education - koç Üniversitesi · education • 1991- 1998 phd on medical genetics, institute of...

EDUCATION

• 1991- 1998 PhD on Medical Genetics, Institute of Child Health, Institute of

Health Sciences, Istanbul University, Turkey

• 1988-1991 Family Medicine Specialisation, Şişli Etfal Hospital, Istanbul

• 1984-1989 Faculty of Letters, Classical Archeology Division, Istanbul University, Turkey

• 1978-1984 İstanbul Medical School, Istanbul University, Turkey

• 1971-1978 Üsküdar American Academy for Girls [AAG, ÜAKL]

ACADEMIC & PROFESSIONAL EXPERIENCE

• 12.2009-ongoing Prof. Lecturer; Clinical Genetics & Pediatric Genetics Division, Medical Genetics

Department, Lecturer at Institute of Health Sciences, Istanbul University, Turkey

• 03.2004-12.2009 Assoc. Prof. Lecturer; Chief of Clinical Genetics Division, Medical Genetics

Department, Istanbul University, Turkey

• 05. 1992-03.2004 Specialist, PhD student, post doc; Prenatal Diagnosis and Research Center &

Institute of Child Health, Division of Medical Genetics, Istanbul University

Short term visiting fellow, September 1993, Cedar Sinai Hospital, Genetics Department, UCLA, Los Angeles, USA

Short term visiting fellow, September-October 2000, Medical Genetics & Pediatric Genetics Department, Academic Medisch Centrum, Amsterdam, the Netherlands

Short term laboratory research fellow, February 2007, Genetics Research Laboratory, Free University, Amsterdam, the Netherlands

• 11.1987-05.1992 Resident of Family Medicine, Şişli Etfal Training and Research Hospital & Bakırköy

Mental Health and Psychiatry Hospital, Istanbul, Turkey

• 02.1987-11.1987 Medical Doctor; Beşiktaş Municipality Health Center, Istanbul, Turkey

• 1984-1987 Medical Doctor; IV. Health Center, and Turkish Red Crescent Blood Bank,

Denizli, Turkey

SKILLS AND COMPETENCES

• LANGUAGES Turkish, native language

English, fluent oral and written skills

French, intermediate oral and written skills

Curriculum vitae of Hülya Kayserili 2

CLINICAL & RESEARCH INTERESTS

• Clinical and molecular syndromology; dysmorphology; developmental genetics

• Genetics of mental retardation & autism

• Prenatal genetics & fetal pathology

• Clinical research & research on novel treatment modalities

PROFESSIONAL SOCIETY MEMBERSHIPS

• Türk Tıbbi Genetik Derneği

• European Society of Human Genetics [ESHG]

• International Skeletal Dysplasia Society [ISDS]

• American Society of Human Genetics [ASHG]

PROFESSIONAL DUTIES

• National Specialisation Council for Medical Genetics [TUK; 2009-ongoing, third term]

• Public and Professional Policy Committee [ESHG subcommittee, 2011-4, elected for the second term 2014-7]

• Medical Education Board, Istanbul Medical Faculty [for graduate studies on medical genetics, 2005-ongoing]

• General Secretary of Turkish Medical Genetics Society [2007-9]

• UEMS Delegate for Medical Genetics [2008-14]

ORGANIZATIONAL WORK

• Istanbul Dysmorphology Days /with international participation & CRANIRARE educational contribution

Dec 1-2, 2000 33 Reform Anfisi, İstanbul Medical Faculty

April 12-13 2002 33 Reform Anfisi, İstanbul Medical Faculty

April 15-16 2005 33 Reform Anfisi, İstanbul Medical Faculty

April 24-25, 2009 Nippon Hotel, Taksim

April 29-30, 2011 Nippon Hotel, Taksim

May 3-4, 2013 SALT Galata, Beyoğlu

• European Spinocerebellar Ataxia Workshop [EUROSCA]. İstanbul Uni. Rektörlük Toplantı Salonu, 27 May 2006

• VIII. National Medical Genetics Congress /w international contribution. 06-09 May 2008, Kolin Otel, Çanakkale

• V. National Medical Genetics Symposium: genetics of endocrinological diseases. 08-10 Oct 2009, Abant, Bolu

• Istanbul Clinical Genetics Club Meetings [1st, 13 Nov 2012; 2nd, 11 Jan 2013; 3rd, 30 May 2013; 4th, 25 Oct 2013; 5th, 26 Nov 2013; 6th, 21 Feb 2014; 7th, Nov 28 2014; 8th, Jan 23 2015]

• ESHG-PPPC Workshop, 12-13 February, 2015 Armada Hotel, İstanbul


PUBLICATION INFORMATION [as of February 2015]

PUBLICATIONS

IN INTERNATIONAL PEER-REVIEWED JOURNALS [SCI & SCI-E]

1. Tomas-Roca L, Tsaalbi-Shtylik A, Jansen JG, Singh MK, Epstein JA, Altunoglu U, Verzijl H, Soria L, van Beusekom

E, Roscioli T, Iqbal Z, Gilissen C, Hoischen A, de Brouwer AP, Erasmus C, Schubert D, Brunner H, Pérez Aytés A, Marin F, Aroca P, Kayserili H, Carta A, de Wind N, Padberg GW, van Bokhoven H. De novo mutations in PLXND1 and REV3L cause Möbius syndrome. Nat Commun. 2015 Jun 12;6:7199. doi: 10.1038/ncomms8199

2. Schmidts M, Hou Y, Cortés CR, Mans DA, Huber C, Boldt K, Patel M, van Reeuwijk J, Plaza JM, van Beersum SE, Yap ZM, Letteboer SJ, Taylor SP, Herridge W, Johnson CA, Scambler PJ, Ueffing M, Kayserili H, Krakow D, King SM, Beales PL, Al-Gazali L, Wicking C, Cormier-Daire V, Roepman R, Mitchison HM, Witman GB; UK10K. TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. Nat Commun. 2015 Jun 5;6:7074. doi: 10.1038/ncomms8074.

3. Uyguner ZO, Toksoy G, Altunoglu U, Ozgur H, Basaran S, Kayserili H. A new hereditary congenital facial palsy case supports arg5 in HOX-DNA binding domain as possible hot spot for mutations. Eur J Med Genet. 2015 Jun-Jul;58(6-7):358-63. doi: 10.1016/j.ejmg.2015.05.003. Epub 2015 May 23.

4. Lupiáñez DG, Kraft K, Heinrich V, Krawitz P, Brancati F, Klopocki E, Horn D, Kayserili H, Opitz JM, Laxova R, Santos-Simarro F, Gilbert-Dussardier B, Wittler L, Borschiwer M, Haas SA, Osterwalder M, Franke M, Timmermann B, Hecht J, Spielmann M, Visel A, Mundlos S. Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions. Cell. 2015 May 6. pii: S0092-8674(15)00377-3. doi: 10.1016/j.cell.2015.04.004. [Epub ahead of print]

Publications in international peer reviewed journals

- SCI, SCI-expanded 159

Publications in international peer reviewed journals

- non SCI & non SCI-expanded 11

Publications in national peer-reviewed journals 29

Presentations in international & national congresses

[invited lectures/ oral presentations; posters at international congresses; conferences & oral/ poster presentations at national congresses ]

275[37; 104; 134]

Books & Book Chapters 9

Citations [as of February 2015] 3766 ( 2743+ 23)

H-index 31 ( 30+1)


http://www.ncbi.nlm.nih.gov/pubmed/26068067






5. Akizu N, Cantagrel V, Zaki MS, Al-Gazali L, Wang X, Rosti RO, Dikoglu E, Gelot AB, Rosti B, Vaux KK, Scott EM, Silhavy JL, Schroth J, Copeland B, Schaffer AE, Gordts PL, Esko JD, Buschman MD, Field SJ, Napolitano G, Abdel-Salam GM, Ozgul RK, Sagıroglu MS, Azam M, Ismail S, Aglan M, Selim L, Mahmoud IG, Abdel-Hadi S, Badawy AE, Sadek AA, Mojahedi F, Kayserili H, Masri A, Bastaki L, Temtamy S, Müller U, Desguerre I, Casanova JL, Dursun A, Gunel M, Gabriel SB, de Lonlay P, Gleeson JG. Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.Nat Genet. 2015 May;47(5):528-34. doi: 10.1038/ng.3256. Epub 2015 Apr 6.

6. Yagi H, Takagi M, Hasegawa Y, Kayserili H, Nishimura G. Sclerosteosis (craniotubular hyperostosis-syndactyly)

with complex hyperphalangy of the index finger. Pediatr Radiol. 2015 Apr 3. [Epub ahead of print]

7. Sukalo M, Tilsen F, Kayserili H, Müller D, Tüysüz B, Ruddy DM, Wakeling E, Ørstavik KH, Snape KM, Trembath R, De Smedt M, van der Aa N, Skalej M, Mundlos S, Wuyts W, Southgate L, Zenker M. DOCK6 Mutations are Responsible for a Distinct Autosomal Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies. Hum Mutat. 2015 Mar 30. doi: 10.1002/humu.22795.

8. White J, Mazzeu JF, Hoischen A, Jhangiani SN, Gambin T, Alcino MC, Penney S, Saraiva JM, Hove H, Skovby F,

Kayserili H, Estrella E, Vulto-van Silfhout AT, Steehouwer M, Muzny DM, Sutton VR, Gibbs RA; Baylor-Hopkins Center for Mendelian Genomics, Lupski JR, Brunner HG, van Bon BW, Carvalho CM. DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome. Am J Hum Genet. 2015 Apr 2;96(4):612-22. doi: 10.1016/j.ajhg.2015.02.015. Epub 2015 Mar 26.

9. Bland PJ, Chronnell C, Plagnol V, Kayserili H, Kelsell DP. A severe collodion phenotype in newborn period

associated with a homozygous missense mutation in ALOX12B. Br J Dermatol. 2014 Dec 18. doi: 10.1111/bjd.13627. [Epub ahead of print]

10. Mishra-Gorur K, Çağlayan AO, Schaffer AE, Chabu C, Henegariu O, Vonhoff F, Akgümüş GT, Nishimura S, Han

W, Tu S, Baran B, Gümüş H, Dilber C, Zaki MS, Hossni HA, Rivière JB, Kayserili H, Spencer EG, Rosti RÖ, Schroth J, Per H, Çağlar C, Çağlar Ç, Dölen D, Baranoski JF, Kumandaş S, Minja FJ, Erson-Omay EZ, Mane SM, Lifton RP, Xu T, Keshishian H, Dobyns WB, Chi NC, Šestan N, Louvi A, Bilgüvar K, Yasuno K, Gleeson JG, Günel M. Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors. Neuron. 2014 Dec 17;84(6):1226-39. doi: 10.1016/j.neuron.2014.12.014.

11. Severin F, Borry P, Cornel MC, Daniels N, Fellmann F, Victoria Hodgson S, Howard HC, John J, Kääriäinen H,

Kayserili H, Kent A, Koerber F, Kristoffersson U, Kroese M, Lewis C, Marckmann G, Meyer P, Pfeufer A, Schmidtke J, Skirton H, Tranebjærg L, Rogowski WH. Points to consider for prioritizing clinical genetic testing services: a European consensus process oriented at accountability for reasonableness. Eur J Hum Genet. 2014 Sep 24. doi: 10.1038/ejhg.2014.190. [Epub ahead of print]

12. Campeau PM, Hennekam RC; DOORS syndrome collaborative group. DOORS syndrome: phenotype, genotype

and comparison with Coffin-Siris syndrome. Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):327-32. doi: 10.1002/ajmg.c.31412. Epub 2014 Aug 28.

13. Acuna-Hidalgo R, Schanze D, Kariminejad A, Nordgren A, Kariminejad MH, Conner P, Grigelioniene G, Nilsson

D, Nordenskjöld M, Wedell A, Freyer C, Wredenberg A, Wieczorek D, Gillessen-Kaesbach G, Kayserili H, Elcioglu N, Ghaderi-Sohi S, Goodarzi P, Setayesh H, van de Vorst M, Steehouwer M, Pfundt R, Krabichler B, Curry C, MacKenzie MG, Boycott KM, Gilissen C, Janecke AR, Hoischen A, Zenker M. Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway. Am J Hum Genet. 2014 Sep 4;95(3):285-93. doi: 10.1016/j.ajhg.2014.07.012. Epub 2014 Aug 21.

14. Ansari M, Poke G, Ferry Q, Williamson K, Aldridge R, Meynert AM, Bengani H, Chan CY, Kayserili H, Avci S,

Hennekam RC, Lampe AK, Redeker E, Homfray T, Ross A, Falkenberg Smeland M, Mansour S, Parker MJ, Cook JA, Splitt M, Fisher RB, Fryer A, Magee AC, Wilkie A, Barnicoat A, Brady AF, Cooper NS, Mercer C, Deshpande C, Bennett CP, Pilz DT, Ruddy D, Cilliers D, Johnson DS, Josifova D, Rosser E, Thompson EM, Wakeling E, Kinning E, Stewart F, Flinter F, Girisha KM, Cox H, Firth HV, Kingston H, Wee JS, Hurst JA, Clayton-Smith J, Tolmie J, Vogt J, Tatton-Brown K, Chandler K, Prescott K, Wilson L, Behnam M, McEntagart M, Davidson R,












Lynch SA, Sisodiya S, Mehta SG, McKee SA, Mohammed S, Holden S, Park SM, Holder SE, Harrison V, McConnell V, Lam WK, Green AJ, Donnai D, Bitner-Glindzicz M, Donnelly DE, Nellåker C, Taylor MS, FitzPatrick DR. Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism. J Med Genet. 2014 Oct;51(10):659-68. doi: 10.1136/jmedgenet-2014-102573. Epub 2014 Aug 14.

15. Li B, Krakow D, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics, Chang

Y, Lachman RS, Yilmaz A, Kayserili H, Cohn DH. Opsismodysplasia resulting from an insertion mutation in the SH2 domain, which destabilizes INPPL1. Am J Med Genet A. 2014 Sep;164A(9):2407-11. doi: 10.1002/ajmg.a.36640. Epub 2014 Jun 20. No abstract available.

16. Imagawa E, Kayserili H, Nishimura G, Nakashima M, Tsurusaki Y, Saitsu H, Ikegawa S, Matsumoto N, Miyake. Severe manifestations of hand-foot-genital syndrome associated with a novel HOXA13 mutation. Am J Med Genet A. 2014 Jun 16. doi: 10.1002/ajmg.a.36648. Epub 2014 Jun 16. [Epub ahead of print]

17. N.Failler M, Gee HY, Krug P, Joo K, Halbritter J, Belkacem L, Filhol E, Porath JD, Braun DA, Schueler M, Frigo A, Alibeu O, Masson C, Brochard K, Hurault de Ligny B, Novo R, Pietrement C, Kayserili H, Salomon R, Gubler MC, Otto EA, Antignac C, Kim J, Benmerah A, Hildebrandt F, Saunier S. Mutations of CEP83 cause infantile nephronophthisis and intellectual disability. Am J Hum Genet. 2014 Jun 5;94(6):905-14.

18. Schaffer AE, Eggens VR, Caglayan AO, Reuter MS, Scott E, Coufal NG, Silhavy JL, Xue Y, Kayserili H, Yasuno K, Rosti RO, Abdellateef M, Caglar C, Kasher PR, Cazemier JL, Weterman MA, Cantagrel V, Cai N, Zweier C, Altunoglu U, Satkin NB, Aktar F, Tuysuz B, Yalcinkaya C, Caksen H, Bilguvar K, Fu XD, Trotta CR, Gabriel S, Reis A, Gunel M, Baas F, Gleeson JG. CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration.Cell. 2014 Apr 24;157(3):651-63. doi: 10.1016/j.cell.2014.03.049.

19. Altunoglu U, Satkın B, Uyguner ZO, Kayserili H. Mild nasal clefting may be predictive for ALX4 heterozygotes. Am J Med Genet A. 2014 Apr 24. doi: 10.1002/ajmg.a.36578. [Epub ahead of print]

20. Kantaputra PN, Bongkochwilawan C, Kaewgahya M, Ohazama A, Kayserili H, Erdem AP, Aktoren O, Guven Y. Enamel-renal-gingival syndrome, hypodontia, and a novel FAM20A mutation. Am J Med Genet A. 2014 Apr 22. doi: 10.1002/ajmg.a.36579. [Epub ahead of print] No abstract available.

21. Roifman M, Marcelis CL, Paton T, Marshall C, Silver R, Lohr JL, Yntema HG, Venselaar H, Kayserili H, van Bon B, Seaward G; FORGE Canada Consortium, Brunner HG, Chitayat D. De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype. Clin Genet. 2014 Apr 9. doi: 10.1111/cge.12401. [Epub ahead of print]

22. Uyguner ZO, Kocaoğlu M, Toksoy G, Basaran S, Kayserili H. Novel indel Mutation in the GDF5 Gene is Associated with Brachydactyly Type C in a Four-Generation Turkish Family. Mol Syndromol. 2014 Feb;5(2):81-6. doi: 10.1159/000357264. Epub 2014 Jan 3.

23. Kantaputra PN, Kayserili H, Guven Y, Kantaputra W, Balci MC, Tanpaiboon P, Tananuvat N, Uttarilli A, Dalal A. Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations. Am J Med Genet A. 2014 Jun;164A(6):1443-53. doi: 10.1002/ajmg.a.36489. Epub 2014 Mar 27.










24. Kariminejad A, Bozorgmehr B, Alizadeh H, Ghaderi-Sohi S, Toksoy G, Uyguner ZO, Kayserili H. Skull defects, alopecia, hypertelorism, and notched alae nasi caused by homozygous ALX4 gene mutation. Am J Med Genet A. 2014 May;164A(5):1322-7. doi: 10.1002/ajmg.a.36008. Epub 2014 Mar 25. No abstract available.

25. Nur BG, Pehlivanoğlu S, Mıhçı E, Calışkan M, Demir D, Alper OM, Kayserili H, Lüleci G. Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review. Pediatr Neurol. 2014 May;50(5):482-90. doi: 10.1016/j.pediatrneurol.2014.01.023. Epub 2014 Jan 11.

26. Guven Y, Altunoglu U, Aktoren O, Uyguner ZO, Kayserili H, Kaewkahya M, Kantaputra PN. Twins with hereditary sensory and autonomic neuropathy type IV with preserved periodontal sensation. Eur J Med Genet. 2014 Apr;57(5):240-6. doi: 10.1016/j.ejmg.2014.02.014. Epub 2014 Mar 12.

27. Czeschik JC, Albrecht B, Kayserili H, Kuechler A, Wagner N, Wieczorek D, Lüdecke HJ.A patient with a de-novo

deletion 3p25.3 and features overlapping with Rubinstein-Taybi syndrome. Clin Dysmorphol. 2014 Apr;23(2):67-70. doi: 10.1097/MCD.0000000000000035. No abstract available.

28. Novarino G, Fenstermaker AG, Zaki MS, Hofree M, Silhavy JL, Heiberg AD, Abdellateef M, Rosti B, Scott E, Mansour L, Masri A, Kayserili H, Al-Aama JY, Abdel-Salam GM, Karminejad A, Kara M, Kara B, Bozorgmehri B, Ben-Omran T, Mojahedi F, Mahmoud IG, Bouslam N, Bouhouche A, Benomar A, Hanein S, Raymond L, Forlani S, Mascaro M, Selim L, Shehata N, Al-Allawi N, Bindu PS, Azam M, Gunel M, Caglayan A, Bilguvar K, Tolun A, Issa MY, Schroth J, Spencer EG, Rosti RO, Akizu N, Vaux KK, Johansen A, Koh AA, Megahed H, Durr A, Brice A, Stevanin G, Gabriel SB, Ideker T, Gleeson JG. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science. 2014 Jan 31;343(6170):506-11. doi: 10.1126/science.1247363.

29. Aslanger AD, Altunoglu U, Aslanger E, Satkın BN, Uyguner ZO, Kayserili H. Newly described clinical features in two siblings with MACS syndrome and a novel mutation in RIN2. Am J Med Genet A. 2014 Feb;164(2):484-9. doi: 10.1002/ajmg.a.36277. Epub 2013 Oct 29.

30. Corbacioglu Esmer A, Kalelioglu I, Omeroglu RE, Kayserili H, Gulluoglu M, Has R, Yuksel A. Prenatal ultrasonographic diagnosis of generalized arterial calcification of infancy. J Clin Ultrasound. 2014 Jan 13. doi: 10.1002/jcu.22121. [Epub ahead of print]

31. Schanze D, Kayserili H, Satkın BN, Altunoglu U, Zenker M. Fraser syndrome due to mutations in GRIP1-Clinical phenotype in two families and expansion of the mutation spectrum. Am J Med Genet A. 2013 Dec 19. doi: 10.1002/ajmg.a.36343. [Epub ahead of print] No abstract available.

32. Campeau PM, Kasperaviciute D, Lu JT, Burrage LC, Kim C, Hori M, Powell BR, Stewart F, Félix TM, van den Ende J, Wisniewska M, Kayserili H, Rump P, Nampoothiri S, Aftimos S, Mey A, Nair LD, Begleiter ML, De Bie I, Meenakshi G, Murray ML, Repetto GM, Golabi M, Blair E, Male A, Giuliano F, Kariminejad A, Newman WG, Bhaskar SS, Dickerson JE, Kerr B, Banka S, Giltay JC, Wieczorek D, Tostevin A, Wiszniewska J, Cheung SW, Hennekam RC, Gibbs RA, Lee BH, Sisodiya SM. The genetic basis of DOORS syndrome: an exome-sequencing study. Lancet Neurol. 2014 Jan;13(1):44-58. doi: 10.1016/S1474-4422(13)70265-5. Epub 2013 Nov 29.


33. Schmidts M, Vodopiutz J, Christou-Savina S, Cortés CR, McInerney-Leo AM, Emes RD, Arts HH, Tüysüz B, D'Silva J, Leo PJ, Giles TC, Oud MM, Harris JA, Koopmans M, Marshall M, Elçioglu N, Kuechler A, Bockenhauer D, Moore AT, Wilson LC, Janecke AR, Hurles ME, Emmet W, Gardiner B, Streubel B, Dopita B, Zankl A, Kayserili H, Scambler PJ, Brown MA, Beales PL, Wicking C; UK10K, Duncan EL, Mitchison HM. Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. Am J Hum Genet. 2013 Nov 7;93(5):932-44. doi: 10.1016/j.ajhg.2013.10.003. Epub 2013 Oct 31.

34. Lopez E, Thauvin-Robinet C, Reversade B, Khartoufi NE, Devisme L, Holder M, Ansart-Franquet H, Avila M, Lacombe D, Kleinfinger P, Kaori I, Takanashi J, Le Merrer M, Martinovic J, Noël C, Shboul M, Ho L, Güven Y, Razavi F, Burglen L, Gigot N, Darmency-Stamboul V, Thevenon J, Aral B, Kayserili H, Huet F, Lyonnet S, Le Caignec C, Franco B, Rivière JB, Faivre L, Attié-Bitach T. C5orf42 is the major gene responsible for OFD syndrome type VI. Hum Genet. 2014 Mar;133(3):367-77. doi: 10.1007/s00439-013-1385-1. Epub 2013 Nov 1.

35. Halbritter J, Bizet AA, Schmidts M, Porath JD, Braun DA, Gee HY, McInerney-Leo AM, Krug P, Filhol E, DavisEE, Airik R, Czarnecki PG, Lehman AM, Trnka P, Nitschké P, Bole-Feysot C, Schueler M, Knebelmann B, Burtey S, Szabó AJ, Tory K, Leo PJ, Gardiner B, McKenzie FA, Zankl A, Brown MA, Hartley JL, Maher ER, Li C, Leroux MR, Scambler PJ, Zhan SH, Jones SJ, Kayserili H, Tuysuz B, Moorani KN, Constantinescu A, Krantz ID, Kaplan BS, Shah JV; UK10K Consortium, Hurd TW, Doherty D, Katsanis N, Duncan EL, Otto EA, Beales PL, Mitchison HM, Saunier S, Hildebrandt F. Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. Am J Hum Genet. 2013 Nov 7;93(5):915-25. doi: 10.1016/j.ajhg.2013.09.012. Epub 2013 Oct 17.

36. Murray JE, Bicknell LS, Yigit G, Duker AL, van Kogelenberg M, Haghayegh S, Wieczorek D, Kayserili H, Albert MH, Wise CA, Brandon J, Kleefstra T, Warris A, van der Flier M, Bamforth JS, Doonanco K, Adès L, Ma A, Field M, Johnson D, Shackley F, Firth H, Woods CG, Nürnberg P, Gatti RA, Hurles M, Bober MB, Wollnik B, Jackson AP. Extreme growth failure is a common presentation of ligase IV deficiency. Hum Mutat. 2014 Jan;35(1):76-85. doi: 10.1002/humu.22461. Epub 2013 Nov 8.

37. Symoens S, Malfait F, D'hondt S, Callewaert B, Dheedene A, Steyaert W, Bächinger HP, De Paepe A,Kayserili H, Coucke PJ. Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans. Orphanet J Rare Dis. 2013 Sep 30;8:154. doi: 10.1186/1750-1172-8-154.

38. Dimopoulou A, Fischer B, Gardeitchik T, Schröter P, Kayserili H, Schlack C, Li Y, Brum JM, Barisic I, Castori M, Spaich C, Fletcher E, Mahayri Z, Bhat M, Girisha KM, Lachlan K, Johnson D, Phadke S, Gupta N, Simandlova M, Kabra M, David A, Nijtmans L, Chitayat D, Tuysuz B, Brancati F, Mundlos S, Van Maldergem L, Morava E, Wollnik B, Kornak U. Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa. Mol Genet Metab. 2013 nov;110(3): 352-61. doi: 10.1016/j.ymgme.2013.08.009. Epub 2013 Aug 24.

39. Kantaputra PN, Kayserili H, Güven Y, Kantaputra W, Balci MC, Tanpaiboon P, Uttarilli A, Dalal A. Oral manifestations of 17 patients affected with mucopolysaccharidosis type VI. J Inherit Metab Dis. 2013 Aug 22. [Epub ahead of print]

40. Wieczorek D, Bögershausen N, Beleggia F, Steiner-Haldenstätt S, Pohl E, Li Y, Milz E, Martin M, Thiele H, Altmüller J, Alanay Y, Kayserili H, Klein-Hitpass L, Böhringer S, Wollstein A, Albrecht B, Boduroglu K, Caliebe A, Chrzanowska K, Cogulu O, Cristofoli F, Czeschik JC, Devriendt K, Dotti MT, Elcioglu N, Gener B, Goecke TO,




Krajewska-Walasek M, Guillén-Navarro E, Hayek J, Houge G, Kilic E, Simsek-Kiper PÖ, López-González V, Kuechler A, Lyonnet S, Mari F, Marozza A, Mathieu Dramard M, Mikat B, Morin G, Morice-Picard F, Ozkinay F, Rauch A, Renieri A, Tinschert S, Utine GE, Vilain C, Vivarelli R, Zweier C, Nürnberg P, Rahmann S, Vermeesch J, Lüdecke HJ, Zeschnigk M, Wollnik B. A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. Hum Mol Genet. 2013 Dec 20;22(25):5121-35. doi: 10.1093/hmg/ddt366. Epub 2013 Aug 1.

41. Iida A, Simsek-Kiper PÖ, Mizumoto S, Hoshino T, Elcioglu N, Horemuzova E, Geiberger S, Yesil G,Kayserili H,

Utine GE, Boduroglu K, Watanabe S, Ohashi H, Alanay Y, Sugahara K, Nishimura G, Ikegawa S. Clinical and Radiographic Features of the Autosomal Recessive form of Brachyolmia Caused by PAPSS2 Mutations. Hum Mutat. 2013 Oct;34(10):1381-6. doi: 10.1002/humu.22377. Epub 2013 Jul 26.

42. Aydin HU, Altunoglu U, Uyguner ZO, Ozkan T, Kayserili H. J Plast Reconstr Aesthet Surg. 2013

Oct;66(10):e287-9. doi: 10.1016/j.bjps.2013.05.011. Epub 2013 Jun 1. Multiple synostoses syndrome in three members of a family displaying a novel mutation in NOGGIN gene. abstract available.

43. Alders M, Mendola A, Adès L, Al Gazali L, Bellini C, Dallapiccola B, Edery P, Frank U, Hornshuh F, Huisman SA,

Jagadeesh S, Kayserili H, Keng WT, Lev D, Prada CE, Sampson JR, Schmidtke J, Shashi V, van Bever Y, Van der Aa N, Verhagen JM, Verheij JB, Vikkula M, Hennekam RC. Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations. Mol Syndromol. 2013 Mar;4(3):107-13. doi: 10.1159/000342486. Epub 2012 Oct 2.

44. Czeschik JC, Voigt C, Alanay Y, Albrecht B, Avci S, Fitzpatrick D, Goudie DR, Hehr U, Hoogeboom AJ,Kayserili H,

Simsek-Kiper PO, Klein-Hitpass L, Kuechler A, López-González V, Martin M, Rahmann S, Schweiger B, Splitt M, Wollnik B, Lüdecke HJ, Zeschnigk M, Wieczorek D. Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome. Hum Genet. 2013 Aug;132(8):885-98. doi: 10.1007/s00439-013-1295-2. Epub 2013 Apr 9.

45. Keupp K, Beleggia F, Kayserili H, Barnes AM, Steiner M, Semler O, Fischer B, Yigit G, Janda CY, Becker J, Breer

S, Altunoglu U, Grünhagen J, Krawitz P, Hecht J, Schinke T, Makareeva E, Lausch E, Cankaya T, Caparrós-Martín JA, Lapunzina P, Temtamy S, Aglan M, Zabel B, Eysel P, Koerber F, Leikin S, Garcia KC, Netzer C, Schönau E, Ruiz-Perez VL, Mundlos S, Amling M, Kornak U, Marini J, Wollnik B. Mutations in WNT1 cause different forms of bone fragility. Am J Hum Genet. 2013 Apr 4;92(4):565-74. doi: 10.1016/j.ajhg. 2013.02.010. Epub 2013 Mar 14.

46. Schmidts M, Arts HH, Bongers EM, Yap Z, Oud MM, Antony D, Duijkers L, Emes RD, Stalker J, Yntema JB,

Plagnol V, Hoischen A, Gilissen C, Forsythe E, Lausch E, Veltman JA, Roeleveld N, Superti-Furga A, Kutkowska-Kazmierczak A, Kamsteeg EJ, Elçioğlu N, van Maarle MC, Graul-Neumann LM, Devriendt K, Smithson SF, Wellesley D, Verbeek NE, Hennekam RC, Kayserili H, Scambler PJ, Beales PL; UK10K, Knoers NV, Roepman R, Mitchison HM. Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. J Med Genet. 2013 May;50(5):309-23. doi: 10.1136/jmedgenet-2012-101284. Epub 2013 Mar 1.

47. Ergul Y, Nisli K, Kayserili H, Karaman B, Basaran S, Koca B, Aydogan U, Omeroglu RE, Dindar A. Cardiovascular

abnormalities in Williams syndrome: 20 years' experience in Istanbul. Acta Cardiol. 2012 Dec;67(6):649-55.

48. Travaglini L, Brancati F, Silhavy J, Iannicelli M, Nickerson E, Elkhartoufi N, Scott E, Spencer E, Gabriel S, Thomas S, Ben-Zeev B, Bertini E, Boltshauser E, Chaouch M, Cilio MR, de Jong MM,Kayserili H, Ogur G, Poretti A, Signorini S, Uziel G, Zaki MS; International JSRD Study Group, Johnson C, Attié-Bitach T, Gleeson JG,


Valente EM. Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. Eur J Hum Genet. 2013 Oct;21(10):1074-8. doi: 10.1038/ejhg.2012.305. Epub 2013 Feb 6.

49. Esmar AÇ, Kalelioğlu I, Kayserili H, Yüksel A, Has R. Prenatal Diagnosis of frontonsal dysplasia with anterior encephalocele. J Turk Ger Gynecol Assoc. 2013 Mar 1;14 (1) 50:2.

50. Dinckan N, Guven Y, Kayserili H, Aktoren O, Uyguner OZ. A novel c.1255G>T (p.D419Y) mutation in SH3BP2 gene causes cherubism in a Turkish family. Oral Surg Oral Med Oral Pathol Oral Radiol. 2012 Nov;114(5):e42-6. doi: 10.1016/j.oooo.2012.01.031. Epub 2012 May 12.

51. Cekmez F, Ince EZ, Coban A, Yildirim S, Bulut EO, Kayserili H. Goldenhar syndrome: a new case expanding the

phenotype by costal agenesis and pulmonary hypoplasia. Eur Rev Med Pharmacol Sci. 2012 Sep;16(9):1307-8. No abstract available.

52. Novarino G, El-Fishawy P, Kayserili H, Meguid NA, Scott EM, Schroth J, Silhavy JL, Kara M, Khalil RO, Ben-

Omran T, Ercan-Sencicek AG, Hashish AF, Sanders SJ, Gupta AR, Hashem HS, Matern D, Gabriel S, Sweetman L, Rahimi Y, Harris RA, State MW, Gleeson JG. Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy. Science. 2012 Oct 19;338(6105):394-7. doi: 10.1126/science.1224631. Epub 2012 Sep 6.

53. Solomon BD, Bear KA, Wyllie A, Keaton AA, Dubourg C, David V, Mercier S, Odent S, Hehr U, Paulussen A,

Clegg NJ, Delgado MR, Bale SJ, Lacbawan F, Ardinger HH, Aylsworth AS, Bhengu NL, Braddock S, Brookhyser K, Burton B, Gaspar H, Grix A, Horovitz D, Kanetzke E, Kayserili H, Lev D, Nikkel SM, Norton M, Roberts R, Saal H, Schaefer GB, Schneider A, Smith EK, Sowry E, Spence MA, Shalev SA, Steiner CE, Thompson EM, Winder TL, Balog JZ, Hadley DW, Zhou N, Pineda-Alvarez DE, Roessler E, Muenke M. Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog. J Med Genet. 2012 Jul;49(7):473-9. doi: 10.1136/jmedgenet-2012-101008.

54. Fischer B, Dimopoulou A, Egerer J, Gardeitchik T, Kidd A, Jost D, Kayserili H, Alanay Y, Tantcheva-Poor I,

Mangold E, Daumer-Haas C, Phadke S, Peirano RI, Heusel J, Desphande C, Gupta N, Nanda A, Felix E, Berry-Kravis E, Kabra M, Wevers RA, van Maldergem L, Mundlos S, Morava E, Kornak U. Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. Hum Genet. 2012 Nov;131(11):1761-73. doi: 10.1007/s00439-012-1197-8. Epub 2012 Jul 8.

55. Hens K, Van El CE, Borry P, Cambon-Thomsen A, Cornel MC, Forzano F, Lucassen A, Patch C, Tranebjaerg L,

Vermeulen E, Salvaterra E, Tibben A, Dierickx K; PPPC of the European Society of Human Genetics. Developing a policy for paediatric biobanks: principles for good practice. Eur J Hum Genet. 2013 Jan;21(1):2-7. doi: 10.1038/ejhg.2012.99. Epub 2012 Jun 20. (H. Kayserili is a member of PPPC )

56. Kayserili H, Kantaputra PN. Multiple supernumerary molars, anterior openbite, and large ear lobules in mucopolysaccharidosis type VI patient. Am J Med Genet A. 2012 Jul;158A(7):1798-800. doi: 10.1002/ajmg.a.35420. Epub 2012 Jun 8. No abstract available.

57. Ergul Y, Nisli K, Kayserili H, Karaman B, Basaran S, Dursun M, Yilmaz E, Ergul N, Unal SN, Dindar A. Evaluation

of coronary artery abnormalities in Williams syndrome patients using myocardial perfusion scintigraphy and CT angiography. Cardiol J. 2012;19(3):301-8.

58. van Bon BW, Gilissen C, Grange DK, Hennekam RC, Kayserili H, Engels H, Reutter H, Ostergaard JR, Morava E,

Tsiakas K, Isidor B, Le Merrer M, Eser M, Wieskamp N, de Vries P, Steehouwer M, Veltman JA, Robertson SP,


Brunner HG, de Vries BB, Hoischen A. Cantú syndrome is caused by mutations in ABCC9. Am J Hum Genet. 2012 Jun 8;90(6):1094-101. doi: 10.1016/j.ajhg.2012.04.014. Epub 2012 May 17.

59. Bonnard C, Strobl AC, Shboul M, Lee H, Merriman B, Nelson SF, Ababneh OH, Uz E, Güran T, Kayserili H, Hamamy H, Reversade B. Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1. Nat Genet. 2012 May 13;44(6):709-13. doi: 10.1038/ng.2259.

60. Chassaing N, Sorrentino S, Davis EE, Martin-Coignard D, Iacovelli A, Paznekas W, Webb BD, Faye-Petersen O, Encha-Razavi F, Lequeux L, Vigouroux A, Yesilyurt A, Boyadjiev SA, Kayserili H, Loget P, Carles D, Sergi C, Puvabanditsin S, Chen CP, Etchevers HC, Katsanis N, Mercer CL, Calvas P, Jabs EW. OTX2 mutations contribute to the otocephaly-dysgnathia complex. J Med Genet. 2012 Jun;49(6):373-9. doi: 10.1136/jmedgenet-2012-100892. Epub 2012 May 10.

61. Mitchell S, Siegel DH, Shieh JT, Stevenson DA, Grimmer JF, Lewis T, Metry D, Frieden I, Blei F, Kayserili H, Drolet BA, Bayrak-Toydemir P. Candidate locus analysis for PHACE syndrome. Am J Med Genet A. 2012 Jun;158A(6):1363-7. doi: 10.1002/ajmg.a.35341. Epub 2012 Apr 27.

62. Roscioli T, Kamsteeg EJ, Buysse K, Maystadt I, van Reeuwijk J, van den Elzen C, van Beusekom E, Riemersma M, Pfundt R, Vissers LE, Schraders M, Altunoglu U, Buckley MF, Brunner HG, Grisart B, Zhou H, Veltman JA, Gilissen C, Mancini GM, Delrée P, Willemsen MA, Ramadža DP, Chitayat D, Bennett C, Sheridan E, Peeters EA, Tan-Sindhunata GM, de Die-Smulders CE, Devriendt K,Kayserili H, El-Hashash OA, Stemple DL, Lefeber DJ, Lin YY, van Bokhoven H. Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan. Nat Genet. 2012 May;44(5):581-5. doi: 10.1038/ng.2253.

63. Yuksel-Apak M, Bögershausen N, Pawlik B, Li Y, Apak S, Uyguner O, Milz E, Nürnberg G, Karaman B, Gülgören A, Grzeschik KH, Nürnberg P, Kayserili H, Wollnik B. A large duplication involving the IHH locus mimics acrocallosal syndrome. Eur J Hum Genet. 2012 Jun;20(6):639-44. doi: 10.1038/ejhg.2011.250. Epub 2012 Jan 11.

64. Kalay E, Sezgin O, Chellappa V, Mutlu M, Morsy H, Kayserili H, Kreiger E, Cansu A, Toraman B, Abdalla EM, Aslan Y, Pillai S, Akarsu NA. Mutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome. Am J Hum Genet. 2012 Jan 13;90(1):76-85. doi: 10.1016/j.ajhg.2011.11.014. Epub 2011 Dec 22.

65. Kayserili H, Altunoglu U, Ozgur H, Basaran S, Uyguner ZO. Mild nasal malformations and parietal foramina caused by homozygous ALX4 mutations. Am J Med Genet A. 2012 Jan; 158A(1):236-44. doi: 10.1002/ajmg.a.34390. Epub 2011 Dec 2.

66. Saraydemir S, Taşpınar N, Eroğul O, Kayserili H, Dinçkan N. Down syndrome diagnosis based on Gabor Wavelet Transform. J Med Syst. 2012 Oct;36(5):3205-13. doi: 10.1007/s10916-011-9811-1. Epub 2011 Nov 30.


67. Rajpopat S, Moss C, Mellerio J, Vahlquist A, Gånemo A, Hellstrom-Pigg M, Ilchyshyn A, Burrows N, Lestringant G, Taylor A, Kennedy C, Paige D, Harper J, Glover M, Fleckman P, Everman D, Fouani M, Kayserili H, Purvis D, Hobson E, Chu C, Mein C, Kelsell D, O'Toole E. Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases. Arch Dermatol. 2011 Jun;147(6):681-6. doi: 10.1001/archdermatol.2011.9. Epub 2011 Feb 21.

68. Hanna RM, Marsh SE, Swistun D, Al-Gazali L, Zaki MS, Abdel-Salam GM, Al-Tawari A, Bastaki L, Kayserili H, Rajab A, Boglárka B, Dietrich RB, Dobyns WB, Truwit CL, Sattar S, Chuang NA, Sherr EH, Gleeson JG. Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families. Neurology. 2011 Jan 25;76(4):373-82. doi: 10.1212/WNL.0b013e318208f492.

69. Davis EE, Zhang Q, Liu Q, Diplas BH, Davey LM, Hartley J, Stoetzel C, Szymanska K, Ramaswami G, Logan CV, Muzny DM, Young AC, Wheeler DA, Cruz P, Morgan M, Lewis LR, Cherukuri P, Maskeri B, Hansen NF, Mullikin JC, Blakesley RW, Bouffard GG; NISC Comparative Sequencing Program, Gyapay G, Rieger S, Tönshoff B, Kern I, Soliman NA, Neuhaus TJ, Swoboda KJ, Kayserili H, Gallagher TE, Lewis RA, Bergmann C, Otto EA, Saunier S, Scambler PJ, Beales PL, Gleeson JG, Maher ER, Attié-Bitach T, Dollfus H, Johnson CA, Green ED, Gibbs RA, Hildebrandt F, Pierce EA, Katsanis N. TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet. 2011 Mar;43(3):189-96. doi: 10.1038/ng.756. Epub 2011 Jan 23.

70. Kayserili H, Wollnik B, Güven G, Emiroğlu MU, Başerer N, Uyguner ZO. A novel homozygous COL11A2 deletion causes a C-terminal protein truncation with incomplete mRNA decay in a Turkish patient. Am J Med Genet A. 2011 Jan;155A(1):180-5. doi: 10.1002/ajmg.a.33780.

71. Kalay E, Yigit G, Aslan Y, Brown KE, Pohl E, Bicknell LS, Kayserili H, Li Y, Tüysüz B, Nürnberg G, Kiess W, Koegl M, Baessmann I, Buruk K, Toraman B, Kayipmaz S, Kul S, Ikbal M, Turner DJ, Taylor MS, Aerts J, Scott C, Milstein K, Dollfus H, Wieczorek D, Brunner HG, Hurles M, Jackson AP, Rauch A, Nürnberg P, Karagüzel A, Wollnik B. CEP152 is a genome maintenance protein disrupted in Seckel syndrome. Nat Genet. 2011 Jan;43(1):23-6. doi: 10.1038/ng.725. Epub 2010 Dec 5.

72. Otto EA, Ramaswami G, Janssen S, Chaki M, Allen SJ, Zhou W, Airik R, Hurd TW, Ghosh AK, Wolf MT, Hoppe B, Neuhaus TJ, Bockenhauer D, Milford DV, Soliman NA, Antignac C, Saunier S, Johnson CA, Hildebrandt F; GPN Study Group. Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. J Med Genet. 2011 Feb;48(2):105-16. doi: 10.1136/jmg.2010.082552. Epub 2010 Nov 10.

73. Johnston JJ, Sapp JC, Turner JT, Amor D, Aftimos S, Aleck KA, Bocian M, Bodurtha JN, Cox GF, Curry CJ, Day R, Donnai D, Field M, Fujiwara I, Gabbett M, Gal M, Graham JM, Hedera P, Hennekam RC, Hersh JH, Hopkin RJ, Kayserili H, Kidd AM, Kimonis V, Lin AE, Lynch SA, Maisenbacher M, Mansour S, McGaughran J, Mehta L, Murphy H, Raygada M, Robin NH, Rope AF, Rosenbaum KN, Schaefer GB, Shealy A, Smith W, Soller M, Sommer A, Stalker HJ, Steiner B, Stephan MJ, Tilstra D, Tomkins S, Trapane P, Tsai AC, Van Allen MI, Vasudevan PC, Zabel B, Zunich J, Black GC, Biesecker LG. Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. Hum Mutat. 2010 Oct;31(10):1142-54. doi: 10.1002/humu.21328.











74. Karakas Z, Tugcu D, Unuvar A, Atay D, Akcay A, Gedik H, Kayserili H, Dogan O, Anak S, Devecioglu O. Li-Fraumeni syndrome in a Turkish family. Pediatr Hematol Oncol. 2010 May;27:297-305. doi: 10.3109/08880011003663374.

75. Li Y, Pawlik B, Elcioglu N, Aglan M, Kayserili H, Yigit G, Percin F, Goodman F, Nürnberg G, Cenani A, Urquhart J, Chung BD, Ismail S, Amr K, Aslanger AD, Becker C, Netzer C, Scambler P, Eyaid W, Hamamy H, Clayton-Smith J, Hennekam R, Nürnberg P, Herz J, Temtamy SA, Wollnik B. LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome. Am J Hum Genet. 2010 May 14;86(5):696-706. doi: 10.1016/j.ajhg.2010.03.004. Epub 2010 Apr 8.

76. Iannicelli M, Brancati F, Mougou-Zerelli S, Mazzotta A, Thomas S, Elkhartoufi N, Travaglini L, Gomes C, Ardissino GL, Bertini E, Boltshauser E, Castorina P, D'Arrigo S, Fischetto R, Leroy B, Loget P, Bonnière M, Starck L, Tantau J, Gentilin B, Majore S, Swistun D, Flori E, Lalatta F, Pantaleoni C, Penzien J, Grammatico P; International JSRD Study Group, Dallapiccola B, Gleeson JG, Attie-Bitach T, Valente EM. Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. Hum Mutat. 2010 May;31(5):E1319-31. doi: 10.1002/humu.21239.

77. Karaman B, Rosti RO, Yilmaz K, Oztürk H, Kayserili H, Başaran S. A de novo complex chromosomal rearrangement involving chromosomes 2, 8 and 13 in a dysmorphic case with polysyndactyly. Turk J Pediatr. 2009 Nov-Dec;51(6):613-6.

78. Denayer E, Devriendt K, de Ravel T, Van Buggenhout G, Smeets E, Francois I, Sznajer Y, Craen M, Leventopoulos G, Mutesa L, Vandecasseye W, Massa G, Kayserili H, Sciot R, Fryns JP, Legius E. Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations. Genes Chromosomes Cancer. 2010 Mar;49(3):242-52. doi: 10.1002/gcc.20735.

79. Rosti RO, Kayserili H. Kabuki make-up syndrome with unilateral renal agenesis. Turk J Pediatr. 2009 May-Jun;51(3):298-300.

80. Harville HM, Held S, Diaz-Font A, Davis EE, Diplas BH, Lewis RA, Borochowitz ZU, Zhou W, Chaki M, MacDonald J, Kayserili H, Beales PL, Katsanis N, Otto E, Hildebrandt F. Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping. J Med Genet. 2010 Apr;47(4):262-7. doi: 10.1136/jmg.2009.071365. Epub 2009 Sep 24.

81. Travaglini L, Brancati F, Attie-Bitach T, Audollent S, Bertini E, Kaplan J, Perrault I, Iannicelli M, Mancuso B, Rigoli L, Rozet JM, Swistun D, Tolentino J, Dallapiccola B, Gleeson JG, Valente EM; International JSRD Study Group, Zankl A, Leventer R, Grattan-Smith P, Janecke A, D'Hooghe M, Sznajer Y, Van Coster R, Demerleir L, Dias K, Moco C, Moreira A, Kim CA, Maegawa G, Petkovic D, Abdel-Salam GM, Abdel-Aleem A, Zaki MS, Marti I, Quijano-Roy S, Sigaudy S, de Lonlay P, Romano S, Touraine R, Koenig M, Lagier-Tourenne C, Messer J, Collignon P, Wolf N, Philippi H, Kitsiou Tzeli S, Halldorsson S, Johannsdottir J, Ludvigsson P, Phadke SR, Udani V, Stuart B, Magee A, Lev D, Michelson M, Ben-Zeev B, Fischetto R, Benedicenti F, Stanzial F, Borgatti R, Accorsi P, Battaglia S, Fazzi E, Giordano L, Pinelli L, Boccone L, Bigoni S, Ferlini A, Donati MA, Caridi G, Divizia MT, Faravelli F, Ghiggeri G, Pessagno A, Briguglio M, Briuglia S, Salpietro CD, Tortorella G, Adami A, Castorina P, Lalatta F, Marra G, Riva D, Scelsa B, Spaccini L, Uziel G, Del Giudice E, Laverda AM, Ludwig K, Permunian A,




Suppiej A, Signorini S, Uggetti C, Battini R, Di Giacomo M, Cilio MR, Di Sabato ML, Leuzzi V, Parisi P, Pollazzon M, Silengo M, De Vescovi R, Greco D, Romano C, Cazzagon M, Simonati A, Al-Tawari AA, Bastaki L, Mégarbané A, Sabolic Avramovska V, de Jong MM, Stromme P, Koul R, Rajab A, Azam M, Barbot C, Martorell Sampol L, Rodriguez B, Pascual-Castroviejo I, Teber S, Anlar B, Comu S, Karaca E, Kayserili H, Yüksel A, Akcakus M, Al Gazali L, Sztriha L, Nicholl D, Woods CG, Bennett C, Hurst J, Sheridan E, Barnicoat A, Hennekam R, Lees M, Blair E, Bernes S, Sanchez H, Clark AE, DeMarco E, Donahue C, Sherr E, Hahn J, Sanger TD, Gallager TE, Dobyns WB, Daugherty C, Krishnamoorthy KS, Sarco D, Walsh CA, McKanna T, Milisa J, Chung WK, De Vivo DC, Raynes H, Schubert R, Seward A, Brooks DG, Goldstein A, Caldwell J, Finsecke E, Maria BL, Holden K, Cruse RP, Swoboda KJ, Viskochil D. Expanding CEP290 mutational spectrum in ciliopathies. Am J Med Genet A. 2009 Oct;149A(10):2173-80. doi: 10.1002/ajmg.a.33025.

82. Kayserili H, Uz E, Niessen C, Vargel I, Alanay Y, Tuncbilek G, Yigit G, Uyguner O, Candan S, Okur H, Kaygin S, Balci S, Mavili E, Alikasifoglu M, Haase I, Wollnik B, Akarsu NA. ALX4 dysfunction disrupts craniofacial and epidermal development. Hum Mol Genet. 2009 Nov 15;18(22):4357-66. doi: 10.1093/hmg/ddp391. Epub 2009 Aug 19.

83. Bielas SL, Silhavy JL, Brancati F, Kisseleva MV, Al-Gazali L, Sztriha L, Bayoumi RA, Zaki MS, Abdel-Aleem A, Rosti RO, Kayserili H, Swistun D, Scott LC, Bertini E, Boltshauser E, Fazzi E, Travaglini L, Field SJ, Gayral S, Jacoby M, Schurmans S, Dallapiccola B, Majerus PW, Valente EM, Gleeson JG. Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. Nat Genet. 2009 Sep;41(9):1032-6. doi: 10.1038/ng.423. Epub 2009 Aug 9.

84. Reversade B, Escande-Beillard N, Dimopoulou A, Fischer B, Chng SC, Li Y, Shboul M, Tham PY, Kayserili H, Al-Gazali L, Shahwan M, Brancati F, Lee H, O'Connor BD, Schmidt-von Kegler M, Merriman B, Nelson SF, Masri A, Alkazaleh F, Guerra D, Ferrari P, Nanda A, Rajab A, Markie D, Gray M, Nelson J, Grix A, Sommer A, Savarirayan R, Janecke AR, Steichen E, Sillence D, Hausser I, Budde B, Nürnberg G, Nürnberg P, Seemann P, Kunkel D, Zambruno G, Dallapiccola B, Schuelke M, Robertson S, Hamamy H, Wollnik B, Van Maldergem L, Mundlos S, Kornak U. Mutations in PYCR1 cause cutis laxa with progeroid features. Nat Genet. 2009 Sep;41(9):1016-21. doi: 10.1038/ng.413. Epub 2009 Aug 2.

85. Vega H, Trainer AH, Gordillo M, Crosier M, Kayserili H, Skovby F, Uzielli ML, Schnur RE, Manouvrier S, Blair E, Hurst JA, Forzano F, Meins M, Simola KO, Raas-Rothschild A, Hennekam RC, Jabs EW. Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome. J Med Genet. 2010 Jan;47(1):30-7. doi: 10.1136/jmg.2009.068395. Epub 2009 Jul 1.

86. Furuichi T, Kayserili H, Hiraoka S, Nishimura G, Ohashi H, Alanay Y, Lerena JC, Aslanger AD, Koseki H, Cohn DH, Superti-Furga A, Unger S, Ikegawa S. Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases. J Med Genet. 2009 Aug;46(8):562-8. doi: 10.1136/jmg.2008.065201. Epub 2009 Jun 8.

87. Uzumcu A, Karaman B, Toksoy G, Uyguner ZO, Candan S, Eris H, Tatli B, Geckinli B, Yuksel A,Kayserili H, Basaran S. Molecular genetic screening of MBS1 locus on chromosome 13 for microdeletions and exclusion of


FGF9, GSH1 and CDX2 as causative genes in patients with Moebius syndrome. Eur J Med Genet. 2009 Sep-Oct;52(5):315-20. doi: 10.1016/j.ejmg.2009.05.003. Epub 2009 May 19.

88. Uzumcu A, Candan S, Toksoy G, Uyguner ZO, Karaman B, Eris H, Tatli B, Kayserili H, Yuksel A, Geckinli B, Yuksel-Apak M, Basaran S. Mutational screening of BASP1 and transcribed processed pseudogene TPPsig-BASP1 in patients with Möbius syndrome. J Genet Genomics. 2009 Apr;36(4):251-6. doi:10.1016/S1673-8527(08)60112-5.

89. Hucthagowder V, Morava E, Kornak U, Lefeber DJ, Fischer B, Dimopoulou A, Aldinger A, Choi J, Davis EC, Abuelo DN, Adamowicz M, Al-Aama J, Basel-Vanagaite L, Fernandez B, Greally MT, Gillessen-Kaesbach G, Kayserili H, Lemyre E, Tekin M, Türkmen S, Tuysuz B, Yüksel-Konuk B, Mundlos S, Van Maldergem L, Wevers RA, Urban Z. Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival. Hum Mol Genet. 2009 Jun 15;18(12):2149-65. doi: 10.1093/hmg/ddp148. Epub 2009 Mar 25.

90. Baş F, Kayserili H, Darendeliler F, Uyguner O, Günöz H, Yüksel Apak M, Atalar F, Bundak R, Wilson RC, New MI, Wollnik B, Saka N. CYP21A2 gene mutations in congenital adrenal hyperplasia: genotype-phenotype correlation in Turkish children. J Clin Res Pediatr Endocrinol. 2009;1(3):116-28. doi: 10.4008/jcrpe.v1i3.49. Epub 2009 Feb 2.

91. Tuna EB, Sulun T, Rosti O, El Abdallah F, Kayserili H, Aktoren O. Craniodentofacial manifestations in Hallermann-Streiff syndrome. Cranio. 2009 Jan;27(1):33-8.

92. Chung BD, Kayserili H, Ai M, Freudenberg J, Uzümcü A, Uyguner O, Bartels CF, Höning S, Ramirez A, Hanisch FG, Nürnberg G, Nürnberg P, Warman ML, Wollnik B, Kubisch C, Netzer C. A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats. Hum Mutat. 2009 Apr;30(4):641-8. doi: 10.1002/humu.20916.

93. Kara B, Uzümcü A, Uyguner O, Rosti RO, Koçbaş A, Ozmen M, Kayserili H. Ataxia with vitamin E deficiency associated with deafness. Turk J Pediatr. 2008 Sep-Oct;50(5):471-5.

94. Willaert A, Malfait F, Symoens S, Gevaert K, Kayserili H, Megarbane A, Mortier G, Leroy JG, Coucke PJ, De Paepe A. Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation. J Med Genet. 2009 Apr;46(4):233-41. doi: 10.1136/jmg.2008.062729. Epub 2008 Dec 16.

95. Bartholdi D, Krajewska-Walasek M, Ounap K, Gaspar H, Chrzanowska KH, Ilyana H, Kayserili H, Lurie IW, Schinzel A, Baumer A. Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes. J Med Genet. 2009 Mar;46(3):192-7. doi: 10.1136/jmg.2008.061820. Epub 2008 Dec 9.


96. Nisli K, Oner N, Candan S, Kayserili H, Tansel T, Tireli E, Karaman B, Omeroglu RE, Dindar A, Aydogan U, Başaran S, Ertugrul T. Congenital heart disease in children with Down's syndrome: Turkish experience of 13 years. Acta Cardiol. 2008 Oct;63(5):585-9.

97. Nişli K, Oner N, Kayserili H, Ertuğrul T. A case of Hennekam syndrome presenting with massive pericardial effusion. Turk Kardiyol Dern Ars. 2008 Jul;36(5):325-8. Turkish.

98. Gene symbol: COL11A2. Disease: Otospondylomegaepiphyseal dysplasia. Uyguner ZO, Kayserili H. Hum

Genet. 2008 Oct;124(3):310-1. No abstract available.

99. Guven Y, Rosti RO, Tuna EB, Kayserili H, Aktoren O. Orodental findings of a family with lacrimo-auriculo-dento digital (LADD) syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2008 Dec;106(6):e33-44. doi: 10.1016/j.tripleo.2008.07.019. Epub 2008 Sep 17.

100. Van Maldergem L, Yuksel-Apak M, Kayserili H, Seemanova E, Giurgea S, Basel-Vanagaite L, Leao-Teles E, Vigneron J, Foulon M, Greally M, Jaeken J, Mundlos S, Dobyns WB. Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type. Neurology. 2008 Nov 11;71(20):1602-8. doi: 10.1212/01.wnl.0000327822.52212.c7. Epub 2008 Aug 20.

101. Kara B, Karaman B, Ozmen M, Rosti RO, Calişkan M, Kayserili H, Başaran S. Angelman syndrome: clinical findings and follow-up data of 14 patients. Turk J Pediatr. 2008 Mar-Apr;50(2):137-42.

102. Brancati F, Travaglini L, Zablocka D, Boltshauser E, Accorsi P, Montagna G, Silhavy JL, Barrano G, Bertini E, Emma F, Rigoli L; International JSRD Study Group, Dallapiccola B, Gleeson JG, Valente EM. RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders. Clin Genet. 2008 Aug;74(2):164-70. doi: 10.1111/j.1399-0004.2008.01047.x. Epub 2008 Jun 28.

103. Gordillo M, Vega H, Trainer AH, Hou F, Sakai N, Luque R, Kayserili H, Basaran S, Skovby F, Hennekam RC, Uzielli ML, Schnur RE, Manouvrier S, Chang S, Blair E, Hurst JA, Forzano F, Meins M, Simola KO, Raas-Rothschild A, Schultz RA, McDaniel LD, Ozono K, Inui K, Zou H, Jabs EW. The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity. Hum Mol Genet. 2008 Jul 15;17(14):2172-80. doi: 10.1093/hmg/ddn116. Epub 2008 Apr 14.

104. Kornak U, Reynders E, Dimopoulou A, van Reeuwijk J, Fischer B, Rajab A, Budde B, Nürnberg P, Foulquier F; ARCL Debré-type Study Group, Lefeber D, Urban Z, Gruenewald S, Annaert W, Brunner HG, van Bokhoven H, Wevers R, Morava E, Matthijs G, Van Maldergem L, Mundlos S. Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat Genet. 2008 Jan;40(1):32-4. Epub 2007 Dec 23.


105. Kalay E, Uzumcu A, Krieger E, Caylan R, Uyguner O, Ulubil-Emiroglu M, Erdol H, Kayserili H, Hafiz G, Başerer N, Heister AJ, Hennies HC, Nürnberg P, Başaran S, Brunner HG, Cremers CW, Karaguzel A, Wollnik B, Kremer H. MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation. Am J Med Genet A. 2007 Oct 15;143A(20):2382-9.

106. Brancati F, Barrano G, Silhavy JL, Marsh SE, Travaglini L, Bielas SL, Amorini M, Zablocka D,Kayserili H, Al-Gazali L, Bertini E, Boltshauser E, D'Hooghe M, Fazzi E, Fenerci EY, Hennekam RC, Kiss A, Lees MM, Marco E, Phadke SR, Rigoli L, Romano S, Salpietro CD, Sherr EH, Signorini S, Stromme P, Stuart B, Sztriha L, Viskochil DH, Yuksel A, Dallapiccola B; International JSRD Study Group, Valente EM, Gleeson JG. CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. Am J Hum Genet. 2007 Jul;81(1):104-13. Epub 2007 May 18.

107. Semerci CN, Satiroglu-Tufan NL, Turan S, Bereket A, Tuysuz B, Yilmaz E, Kayserili H, Karaman B, Semiz S, Duzcan F, Bagci H. Detection of Y chromosomal material in patients with a 45,X karyotype by PCR method. Tohoku J Exp Med. 2007 Mar;211(3):243-9.

108. Uyguner O, Kayserili H, Li Y, Karaman B, Nürnberg G, Hennies H, Becker C, Nürnberg P, Başaran S, Apak MY, Wollnik B. A new locus for autosomal recessive non-syndromic mental retardation maps to 1p21.1-p13.3. Clin Genet. 2007 Mar;71(3):212-9.

109. Yuksel A, Kayserili H, Gungor F. Short femurs detected at 25 and 31 weeks of gestation diagnosed as Leroy I-cell disease in the postnatal period: a report of two cases. Fetal Diagn Ther. 2007;22(3):198-202. Epub 2007 Jan 17.

110. Stum M, Davoine CS, Vicart S, Guillot-Noël L, Topaloglu H, Carod-Artal FJ, Kayserili H, Hentati F, Merlini L, Urtizberea JA, Hammouda el-H, Quan PC, Fontaine B, Nicole S. Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndrome. Hum Mutat. 2006 Nov;27(11):1082-91.

111. Kara B, Kayserili H, Imer M, Calişkan M, Ozmen M. Quadrigeminal cistern arachnoid cyst in a patient with Kabuki syndrome. Pediatr Neurol. 2006 Jun;34(6):478-80.

112. Karaman B, Aytan M, Yilmaz K, Toksoy G, Onal EP, Ghanbari A, Engur A, Kayserili H, Yuksel-Apak M, Basaran S. The identification of small supernumerary marker chromosomes; the experiences of 15,792 fetal karyotyping from Turkey. Eur J Med Genet. 2006 May-Jun;49(3):207-14. Epub 2005 Jul 12.

113. Kalay E, Li Y, Uzumcu A, Uyguner O, Collin RW, Caylan R, Ulubil-Emiroglu M, Kersten FF, Hafiz G, van Wijk E, Kayserili H, Rohmann E, Wagenstaller J, Hoefsloot LH, Strom TM, Nürnberg G, Baserer N, den Hollander AI, Cremers FP, Cremers CW, Becker C, Brunner HG, Nürnberg P, Karaguzel A, Basaran S, Kubisch C, Kremer H, Wollnik B. Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss. Hum Mutat. 2006 Jul;27(7):633-9.

114. Uyguner ZO, Siva A, Kayserili H, Saip S, Altintaş A, Apak MY, Albayram S, Işik N, Akman-Demir G, Taşyürekli M, Oz B, Wollnik B. The R110C mutation in Notch3 causes variable clinical features in two Turkish families with CADASIL syndrome. J Neurol Sci. 2006 Jul 15;246(1-2):123-30. Epub 2006 May 30.


115. Rohmann E, Brunner HG, Kayserili H, Uyguner O, Nürnberg G, Lew ED, Dobbie A, Eswarakumar VP, Uzumcu A, Ulubil-Emeroglu M, Leroy JG, Li Y, Becker C, Lehnerdt K, Cremers CW, Yüksel-Apak M, Nürnberg P, Kubisch C, Schlessinger J, van Bokhoven H, Wollnik B. Mutations in different components of FGF signaling in LADD syndrome. Nat Genet. 2006 Apr;38(4):414-7. Epub 2006 Feb 26. Erratum in: Nat Genet. 2006 Apr;38(4):495. Kubisch, Chriütian [corrected to Kubisch, Christian].

116. Uzumcu A, Norgett EE, Dindar A, Uyguner O, Nisli K, Kayserili H, Sahin SE, Dupont E, Severs NJ, Leigh IM, Yuksel-Apak M, Kelsell DP, Wollnik B. Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome. J Med Genet. 2006 Feb;43(2):e5.

117. Kumru P, Aka N, Köse G, Vural ZT, Peker O, Kayserili H. Short rib polydactyly syndrome type 3 with absence of fibulae (Verma-Naumoff syndrome). Fetal Diagn Ther. 2005 Sep-Oct;20(5):410-4.

118. Ozmen M, Tatli B, Aydinli N, Calişkan M, Demirkol M, Kayserili H. Etiologic evaluation in 247 children with global developmental delay at Istanbul, Turkey. J Trop Pediatr. 2005 Oct;51(5):310-3. Epub 2005 Jun 20.

119. Tukel T, Uzumcu A, Gezer A, Kayserili H, Yuksel-Apak M, Uyguner O, Gultekin SH, Hennies HC, Nurnberg P, Desnick RJ, Wollnik B. A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter. J Med Genet. 2005 May;42(5):408-15. Erratum in: J Med Genet. 2005 Nov;42(11):862.

120. Tutunculer F, Darendeliler F, Gunoz H, Karaman B, Kayserili H. 18q deletion syndrome associated with autoimmune thyroid disease presenting as hyperthyroidism. J Pediatr Endocrinol Metab. 2005 Apr;18(4):419-20. No abstract available.

121. Vega H, Waisfisz Q, Gordillo M, Sakai N, Yanagihara I, Yamada M, van Gosliga D, Kayserili H, Xu C, Ozono K, Jabs EW, Inui K, Joenje H. Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion. Nat Genet. 2005 May;37(5):468-70.

122. Valente EM, Marsh SE, Castori M, Dixon-Salazar T, Bertini E, Al-Gazali L, Messer J, Barbot C, Woods CG, Boltshauser E, Al-Tawari AA, Salpietro CD, Kayserili H, Sztriha L, Gribaa M, Koenig M, Dallapiccola B, Gleeson JG. Distinguishing the four genetic causes of Jouberts syndrome-related disorders. Ann Neurol. 2005 Apr;57(4):513-9. Erratum in: Ann Neurol. 2005 Jun;57(6):934.

123. Maas SM, Kayserili H, Lam J, Apak MY, Hennekam RC. Further delineation of Frank-ter Haar syndrome. Am J Med Genet A. 2004 Dec 1;131(2):127-33. Review.

124. Dixon-Salazar T, Silhavy JL, Marsh SE, Louie CM, Scott LC, Gururaj A, Al-Gazali L, Al-Tawari AA,Kayserili H,

Sztriha L, Gleeson JG. Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria. Am J Hum Genet. 2004 Dec;75(6):979-87. Epub 2004 Oct 4.


125. Ozbey H, Darendeliler F, Kayserili H, Korkmazlar U, Salman T. Gender assignment in female congenital adrenal hyperplasia: a difficult experience. BJU Int. 2004 Aug;94(3):388-91.

126. Iacovacci S, Cicuzza S, Odorisio T, Silvestri E, Kayserili H, Zambruno G, Puddu P, D'Alessio M. Novel and recurrent mutations in the integrin beta 4 subunit gene causing lethal junctional epidermolysis bullosa with pyloric atresia. Exp Dermatol. 2003 Oct;12(5):716-20. Erratum in: Exp Dermatol. 2003 Dec;12(6):925

127. Tukel T, Uyguner O, Wei JQ, Yuksel-Apak M, Saka N, Song DX, Kayserili H, Bas F, Gunoz H, Wilson RC, New MI, Wollnik B. A novel semiquantitative polymerase chain reaction/enzyme digestion-based method for detection of large scale deletions/conversions of the CYP21 gene and mutation screening in Turkish families with 21-hydroxylase deficiency. J Clin Endocrinol Metab. 2003 Dec;88(12):5893-7.

128. Dowling O, Difeo A, Ramirez MC, Tukel T, Narla G, Bonafe L, Kayserili H, Yuksel-Apak M, Paller AS, Norton K, Teebi AS, Grum-Tokars V, Martin GS, Davis GE, Glucksman MJ, Martignetti JA. Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis. Am J Hum Genet. 2003 Oct;73(4):957-66. Epub 2003 Sep 12.

129. Wollnik B, Tukel T, Uyguner O, Ghanbari A, Kayserili H, Emiroglu M, Yuksel-Apak M. Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome. Am J Med Genet A. 2003 Sep 15;122A(1):42-5.

130. Uyguner O, Goicoechea de Jorge E, Cefle A, Baykal T, Kayserili H, Cefle K, Demirkol M, Yuksel-Apak M, Rodriguez de Córdoba S, Wollnik B. Molecular analyses of the HGO gene mutations in Turkish alkaptonuria patients suggest that the R58fs mutation originated from central Asia and was spread throughout Europe and Anatolia by human migrations. J Inherit Metab Dis. 2003;26(1):17-23.

131. Maassen JA, Tobias ES, Kayserilli H, Tukel T, Yuksel-Apak M, D'Haens E, Kleijer WJ, Féry F, van der Zon GC. Identification and functional assessment of novel and known insulin receptor mutations in five patients with syndromes of severe insulin resistance. J Clin Endocrinol Metab. 2003 Sep;88(9):4251-7.

132. Mancini GM, van Diggelen OP, Kleijer WJ, Di Rocco M, Farina V, Yuksel-Apak M, Kayserili H, Halley DJ. Studies

on the pathogenesis of Costello syndrome. J Med Genet. 2003 Apr;40(4):e37. No abstract available.

133. Wollnik B, Kayserili H, Uyguner O, Tukel T, Yuksel-Apak M. Haploinsufficiency of TBX3 causes ulnar-mammary syndrome in a large Turkish family. Ann Genet. 2002 Oct-Dec;45(4):213-7.

134. Beltrán-Valero de Bernabé D, Currier S, Steinbrecher A, Celli J, van Beusekom E, van der Zwaag B,Kayserili H, Merlini L, Chitayat D, Dobyns WB, Cormand B, Lehesjoki AE, Cruces J, Voit T, Walsh CA, van Bokhoven H, Brunner HG. Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet. 2002 Nov;71(5):1033-43. Epub 2002 Oct 4.


135. Katsanis N, Eichers ER, Ansley SJ, Lewis RA, Kayserili H, Hoskins BE, Scambler PJ, Beales PL, Lupski JR. BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance. Am J Hum Genet. 2002 Jul;71(1):22-9. Epub 2002 May 15.

136. Seymen F, Tuna B, Kayserili H. Seckel syndrome: report of a case. J Clin Pediatr Dent. 2002 Spring;26(3):305-9.

137. van Bokhoven H, Hamel BC, Bamshad M, Sangiorgi E, Gurrieri F, Duijf PH, Vanmolkot KR, van Beusekom E, van

Beersum SE, Celli J, Merkx GF, Tenconi R, Fryns JP, Verloes A, Newbury-Ecob RA, Raas-Rotschild A, Majewski F, Beemer FA, Janecke A, Chitayat D, Crisponi G, Kayserili H, Yates JR, Neri G, Brunner HG. p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. Am J Hum Genet. 2001 Sep;69(3):481-92. Epub 2001 Jul 17.

138. Onay T, Zielenski J, Topaloglu O, Gokgoz N, Kayserili H, Apak MY, Camcioglu Y, Cokugras H, Akcakaya N, Tsui

LC, Kirdar B. Cystic fibrosis mutations and associated haplotypes in Turkish cystic fibrosis patients. Hum Biol. 2001 Apr;73(2):191-203.

139. Kayserili H, Cox TC, Cox LL, Basaran S, Kiliç G, Ballabio A, Yüksel-Apak M. Molecular characterisation of a new case of microphthalmia with linear skin defects (MLS). J Med Genet. 2001 Jun;38(6):411-7. Review. No abstract available.

140. Lüdecke HJ, Schaper J, Meinecke P, Momeni P, Gross S, von Holtum D, Hirche H, Abramowicz MJ, Albrecht B, Apacik C, Christen HJ, Claussen U, Devriendt K, Fastnacht E, Forderer A, Friedrich U, Goodship TH, Greiwe M, Hamm H, Hennekam RC, Hinkel GK, Hoeltzenbein M, Kayserili H, Majewski F, Mathieu M, McLeod R, Midro AT, Moog U, Nagai T, Niikawa N, Orstavik KH, Plöchl E, Seitz C, Schmidtke J, Tranebjaerg L, Tsukahara M, Wittwer B, Zabel B, Gillessen-Kaesbach G, Horsthemke B. Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. Am J Hum Genet. 2001 Jan;68(1):81-91. Epub 2000 Dec 7.

141. Demuth I, Wlodarski M, Tipping AJ, Morgan NV, de Winter JP, Thiel M, Gräsl S, Schindler D, D'Andrea AD, Altay C, Kayserili H, Zatterale A, Kunze J, Ebell W, Mathew CG, Joenje H, Sperling K, Digweed M. Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9. Eur J Hum Genet. 2000 Nov;8(11):861-8.

142. Bilge I, Kayserili H, Emre S, Nayir A, Sirin A, Tukel T, Bas F, Kilic G, Basaran S, Gunoz H, Apak M. Frequency of renal malformations in Turner syndrome: analysis of 82 Turkish children. Pediatr Nephrol. 2000 Oct;14(12):1111-4.

143. Revy P, Muto T, Levy Y, Geissmann F, Plebani A, Sanal O, Catalan N, Forveille M, Dufourcq-Labelouse R, Gennery A, Tezcan I, Ersoy F, Kayserili H, Ugazio AG, Brousse N, Muramatsu M, Notarangelo LD, Kinoshita K, Honjo T, Fischer A, Durandy A. Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2). Cell. 2000 Sep 1;102(5):565-75.


144. van Bokhoven H, Celli J, Kayserili H, van Beusekom E, Balci S, Brussel W, Skovby F, Kerr B, Percin EF, Akarsu N, Brunner HG. Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome. Nat Genet. 2000 Aug;25(4):423-6.

145. Balta G, de Winter JP, Kayserili H, Pronk JC, Joenje H. Fanconi anemia A due to a novel frameshift mutation in hotspot motifs: lack of FANCA protein. Hum Mutat. 2000 Jun;15(6):578.

146. Nuytinck L, Tükel T, Kayserili H, Apak MY, De Paepe A. Glycine to tryptophan substitution in type I collagen in a patient with OI type III: a unique collagen mutation. J Med Genet. 2000 May;37(5):371-5.

147. Tadmouri GO, Bilenoğlu O, Kantarci S, Kayserili H, Perrin P, Başak AN. A rare mutation [IVS-I-130 (G-A)] in a Turkish beta-thalassemia major patient. Am J Hematol. 2000 Apr;63(4):223-5.

148. Savas S, Gokgoz N, Kayserili H, Ozkinay F, Yuksel-Apak M, Kirdar B. Screening of deletions in SMN, NAIP and BTF2p44 genes in Turkish spinal muscular atrophy patients. Hum Hered. 2000 May-Jun;50(3):162-5.

149. Boehmer AL, Brinkmann AO, Sandkuijl LA, Halley DJ, Niermeijer MF, Andersson S, de Jong FH,Kayserili H, de Vroede MA, Otten BJ, Rouwé CW, Mendonça BB, Rodrigues C, Bode HH, de Ruiter PE, Delemarre-van de Waal HA, Drop SL. 17Beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations. J Clin Endocrinol Metab. 1999 Dec;84(12):4713-21.

150. Eraslan S, Kayserili H, Apak MY, Kirdar B. Identification of point mutations in Turkish DMD/BMD families using multiplex-single stranded conformation analysis (SSCA). Eur J Hum Genet. 1999 Oct-Nov;7(7):765-70.

151. Van Kuilenburg AB, Vreken P, Abeling NG, Bakker HD, Meinsma R, Van Lenthe H, De Abreu RA, Smeitink JA, Kayserili H, Apak MY, Christensen E, Holopainen I, Pulkki K, Riva D, Botteon G, Holme E, Tulinius M, Kleijer WJ, Beemer FA, Duran M, Niezen-Koning KE, Smit GP, Jakobs C, Smit LM, Van Gennip AH, et al. Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency. Hum Genet. 1999 Jan;104(1):1-9. Review.

152. Onay T, Kayserili H, Apak MY, Kirdar B. Analysis of infertile brothers with congenital bilateral absence of vas deferens for mutations in the CFTR gene. Clin Genet. 1999 Jan;55(1):63-4. No abstract available.

153. Dutly F, Baumer A, Kayserili H, Yüksel-Apak M, Zerova T, Hebisch G, Schinzel A. Seven cases of Wiedemann-Beckwith syndrome, including the first reported case of mosaic paternal isodisomy along the whole chromosome 11. Am J Med Genet. 1998 Oct 12;79(5):347-53.

154. Onay T, Topaloglu O, Zielenski J, Gokgoz N, Kayserili H, Camcioglu Y, Cokugras H, Akcakaya N, Apak M, Tsui LC, Kirdar B. Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I). Hum Genet. 1998 Feb;102(2):224-30.


155. Karabiyik N, Oğuz F, Sidal M, Hekim N, Kayserili H. A case of brachyolmia. Turk J Pediatr. 1997 Jul-Sep;39(3):415-20.

156. Celik A, Eraslan S, Gökgöz N, Ilgin H, Başaran S, Bökesoy I, Kayserili H, Yüksel-Apak M, Kirdar B. Identification of the parental origin of polysomy in two 49,XXXXY cases. Clin Genet. 1997 Jun;51(6):426-9.

157. Hart LM, Lindhout D, Van der Zon GC, Kayserilli H, Apak MY, Kleijer WJ, Van der Vorm ER, Maassen JA. An insulin receptor mutant (Asp707 --> Ala), involved in leprechaunism, is processed and transported to the cell surface but unable to bind insulin. J Biol Chem. 1996 Aug 2;271(31):18719-24.

158. Matthijs G, Schollen E, Legius E, Devriendt K, Goemans N, Kayserili H, Apäk MY, Cassiman JJ. Unusual molecular findings in autosomal recessive spinal muscular atrophy. J Med Genet. 1996 Jun;33(6):469-74.

159. Esen T, Erdoğru T, Müslümanoğlu M, Kiliçaslan I, Kayserili H. Laparoscopic removal of uterus, seminal vesicle and bilateral ovotestes harboring mature teratoma and carcinoid tumor in an intersex patient. J Urol. 1996 Jun;155(6):2032-3. No abstract available.

IN INTERNATIONAL PEER-REVIEWED JOURNALS [other than SCI & SCI-Expanded]

1. Aydınlı K, Cagdas A, Kayserili H, Tukel T, Ersin H, Apak MY. The effect of preconceptional folic acid treatment on the recurrence risk of nonsyndromic neural tube defects. BJMG 1998; 1 (3):120-124.

2. Kayserili H, Rizzo WB, Aydınlı K, Yüksel A, Yüksel Apak M. Sjögren-Larsson Syndrome in A High Risk Pregnancy Using Enzymatic Methods. Tur J Med Sci. 1998; 28: 307-310.

3. K Aydınlı, F Demir, H Kayserili, T Tukel, H Eris, M Şenocak, MY Apak. Two new formulae in the early prenatal

diagnosis of primary microcephaly: formulae of discriminant analysis and logistic regression analysis. BJMG 1998; 1(4): 160-167.

4. Kayserili H, Saraç Üçsel H, Yüksel Apak M. Additional clinical findings in Neu-Laxova syndrome: a further case

from Turkey. Med Bull Istanbul; 33: 2, 178-184, 2000.

5. Uyguner ZO, Wollnik B, Kayserili H, Tükel T, Başaran S, Yüksel Apak M. Establishment of Nonradioactive Molecular Diagnosis of Fragile X Syndrome. Tr J of Medical Sciences. 2000;30(3): 253-260.

6. Ozturkmen, Yusuf, et al. "Thrombocytopenia and absent radii syndrome with type III phocomelia and

orthopaedic management." Acta Orthopaedica et Traumatologica Turcica 30.4 (2004): 433-436.

7. Akyıldız BN, Urgancı N, Kayserili H, Rosti RO. Hennekam syndrome presenting with abdominal mass. Scottish Medical Journal. 2009 54(3):58.

8. Baş F, Kayserili H, Darendeliler F, Uyguner O, Günöz H, Yüksel-Apak M, Atalar F, Bundak R, Wilson RC, New MI,

Wollnik B, Saka N. CYP21A2 gene mutations in congenital adrenal hyperplasia: genotype-phenotype correlation in Turkish children. J Clin Res Ped Endo 1(3):116–128, 2009


9. Rosti RO, Irem A, Kayserili H and Yalcin S. "Gorlin's Syndrome: Case Report and Management Protocol." Balkan

Journal of Medical Genetics. 12, no. 1 (2009): 61-64.

10. Esmer AÇ, Kalelioğlu İ, Kayserili H, Yüksel A, Has R. Prenatal diagnosis of frontonasal dysplasia with anterior encephalocele. J Turk Ger Gynecol Assoc. 2013; 14(1).50-52.

11. Saraydemir S, Erogul O, Taspinar N and Kayserili H. (2014, April). A medical decision support system based on

Gabor fisher classifier for evaluation of Down syndrome affecteds. In Signal Processing and Communications Applications Conference (SIU), 2014 22nd (pp. 2253-2256). IEEE.

IN NATIONAL PEER-REVIEWED JOURNALS

1. Mehmet Demirhan, Yusuf Öztürkmen, Cengiz Şen, Hülya Kayserili, Yunus V. Sözen. Freeman-Sheldon Sendromu (Islık çalan yüz (whistling face) sendromu) Acta Orthop Traumatol Turc 1994;28 (4): 265-268.

2. Hayri Ermiş, Atıl Yüksel, Rıdvan İlhan, Hülya Kayserili, Engin Bengisu. Prenatal dönemde tanısı koyulan iki intrakraniyal tümör olgusunda hipertelorizm. Türkiye Klinikleri Jinekoloji ve Obstetrik Dergisi. 1994;4 (4): 260-263.

3. Atıl Yüksel, Seher Başaran, Hayri Ermiş, Ertuğ Kovancı, Hülya Kayserili, Yalçın Eğeci. Holoprosensefalinin prenatal tanısı. Jinekoloji Obstetrik Dergisi 1994;8 (4) : 174-179.

4. Hayri Ermiş, Tamer Sözen, Selim Aksöyek, Hülya Kayserili, Rıdvan İlhan, Lemi İbrahimoğlu, Atıl Yüksel. Duodenal Atreziler: Prenatal Tanı, Yönetim ve Prognoz. Jinekoloji ve Obstetrik Dergisi. 1995;9: 88-93.

5. Hülya Kayserili, Deniz Polat, Nalan Gökgöz, Seher Başaran, Birsen Karaman, Betül Kırdar, Aslı Tolun, Kılıç Aydınlı, Atıl Yüksel, Selçuk Apak, Memnune Yüksel Apak: Duchenne Kas Distrofisi için riskli ailelerde taşıyıcılığın belirlenmesi ve prenatal tanı uygulamalarında karşılaşılan sorunlar. İstanbul Çocuk Kliniği Dergisi. 1995;30: 200-206.

6. Bülent Baysal, Hasan Serdaroğlu, Faruk Buyru, Seher Başaran, Hülya Kayserili, Ergin Bengisu. Mikst Gonadal Disgenezi Olgusunda Laparoskopik Gonadektomi. Türk Fertilite Dergisi. Eylül 1995; 3 (3): 222-224.

7. Yusuf Öztürkmen, Mehmet Demirhan, Hülya Kayserili, Önder Kılıçoğlu, Önder Yazcıoğlu. Tip III fokomelili bir olguda trombositopeni radius aplazisi (TAR) sendromu ve ortopedik yaklaşımın irdelenmesi. Acta Ortop Traumatol Turc 1996; 30(4): 433-436.

8. F. Seymen, M. Özgen, H. Kayserili. Bir olgu nedeniyle kleidokraniyal dysostosis. Türk Ortodonti Derneği Dergisi. Nisan 1997;10 (1): 80-84 .

9. Neşe Karaaslan, Turgut Tükel, Hülya Kayserili, Memnune Yüksel-Apak. Ulnar Mammary Sendromu Tanımlanan İlk Türk Ailesi. Türk Pediatri Arşivi. 33 : 217-221,1998.

10. Kılıç Aydınlı, Arzu Çağdaş, Hülya Kayserili, Faik Kuseyri, Hacer Taşkeser-Eriş, Turgut Tükel, Memnune Yüksel-Apak. Prekonsepsiyonel Folik Asit Tedavisinin Nonsendromik Nöral Tüp Defektlerinde Yineleme Riski Üzerine Etkisi. Türkiye Klinikleri Jinekoloji Obstetrik Dergisi. 1999;9: 183-189.

11. Memnune Yüksel-Apak, Seher Başaran, Kılıç Aydınlı, Hülya Kayserili, Birsen Karaman, Deniz Polat, Zuhal Azaklı, Gülleyla Kılıç, Hacer Taşkeser, Atıl Yüksel, Lemi İbrahimoğlu, Hayri Ermiş, Turgut Tükel, Betül Kırdar. Genetik


Hastalıkların Prenatal Tanısı (1995-1997 yıllarındaki uygulama ve araştırmalarımızın sonuçları). İstanbul Tıp Fakültesi Mecmuası 1999; 62 (4): 354-362.

12. Hülya Kayserili, Mehmet Ali Talay, Fatih Dikici, Memnune-Yüksel Apak. Trikorinofalangeal (TRPS III) sendromlu bir olgu sunumu. İstanbul Tıp Fakültesi Mecmuası. 2000;63(1): 94-99.

13. Darendeliler F, Baş F, Saka N, Kayserili H, Apak M, Karaaslan N, Bundak R, Salman T, Günöz H. Kuşkulu genitalyalı 103 hastanın, etyoloji, tanı ve cinsel kimlik açısından değerlendirilmesi. Klinik Gelişim. 13, 2000 (109-114).

14. Firdevs Baş, Hülya Kayserili , Feyza Darendeliler, Turgut Tükel, Rüveyde Bundak, Sema Kabataş, Memnune Yüksel Apak, Nurçin Saka, Hülya Günöz. Beckwith-Wiedemann sendromlu 8 olguda klinik/genetik yaklaşım ve izlem süreci. İstanbul Tıp Fakültesi Mecmuası. 63:2, 2000 (181-187).

15. Figen Seymen, Hakkı Tanyeri, Hülya Kayserili. Sürnümerer dişler: bir olgu nedeniyle 6 yıl süre ile takip. İstanbul Üniversitesi Diş Hekimliği Fakültesi Dergisi. 2000:34, 07-10.

16. Anıl Yeşildal, Hülya Kayserili, Raif Üçsel, Turgut Tükel, Selçuk Apak, Nevin Yalman, Sema Anak, Leyla Kuntsal, Gülay Can, Memnune-Yüksel Apak. Griscelli sendromu: 2 olgu nedeniyle literatür derlemesi. Türkiye Klinikleri Dergisi 10: 153-158, 2001.

17. Söğüt A, Kayserili H, Tükel T, Yüksel-Apak M. Proteus sendromu: iki vakanın takdimi. Çocuk Sağlığı ve Hastalıkları Dergisi. 45:148-152, 2002.

18. Söğüt A, Kayserili H, Tükel T, Çalışkan M, Özmen M, Yüksel-Apak M. Bir Vaka Nedeniyle Menkes Hastalığı. Çocuk Dergisi. 2(1): 57-60, 2002.

19. Ali Bülbül, Hülya Kayserili, Ilmay Bilge, Nurçin Saka. Opsismodisplazi ve tubülopati birlikteliği: bir vaka takdimi. Çocuk Sağlığı ve Hastalıkları Dergisi; 48(3):242-246, 2005.

20. Demet Tekcan, Nevin Hatipoğlu, Ayper Somer, Hülya Kayserili, Melike Keser, Nuran Salman, Işık Yalçın, Ülker Öneş. Düşmeyen ateşin nadir bir nedeni : ektodermal displazi. Klinik Pediatri, Cilt 2, Sayı 1, Ocak-Şubat 2007.

21. H. Kayserili, T. Tükel, B. Karaman, O. Uyguner, A. D. Aslanger, R. Ö. Rosti, D. Açarsöz, H. Eriş, S. Başaran ve M. Yüksel-Apak. “Frajil-X Sendromu Tanısında 20 Yıllık Süreçteki Gelişmeler ve Deneyimlerimiz”. Çocuk Dergisi, Genetik Özel Sayısı 3, 18-22 (2007).

22. Karaman B, Demir Z, Kırmızı N, Yılmaz K, Öztürk S, Başaran S, Kayserili H, Yüksel-Apak M. Down Sendromlu 1416 Postnatal Olgunun Kromozom Analiz Sonuçları”, Çocuk Dergisi, Genetik Özel Sayısı. 3 15-17 (2007).

23. Serpil Eraslan, Sibel Kantarcı, Belgin Eroğlu Kesim, Deniz Açarsöz, Hülya Kayserili, Memnune Yüksel Apak, Betül Kırdar. Prenatal Diagnosis Strategies in Turkish DMD/BMD Families. Çocuk Dergisi 7 (ek sayı 3) : 23-27, 2007.

24. Rosti RÖ, Karataş C, Kayserili H. ‘Mukolipidoz Tip III: Hafif fenotip Zor Tanı’ Çocuk Dergisi 7(4) 279-285, (2007).

25. Pehlivan D, Baş F, Rosti RÖ, Darendeliler F, Kayserili H. ‘A case with mandibuloacral dysplasia and review of the literature’. Çocuk Dergisi. 8(4): 251-256, (2008) .

26. Aslanger AD, Açarsöz D, Kayserili H. Smith-Lemli Opiz sendromlu olguda uE3 düşüklüğünün tanıdaki yeri. Türkiye Klinikleri J Gynecol Obst. 18(6):395-399 (2008).


27. Aslanger, Ayça Dilruba, R. Özgür Rosti, and Hülya Kayserili. "Smith-Lemli-Opitz Sendromu (SLOS): Prenatal ve Postnatal Dönemde Tanısı." J Child 2009; 9(3): 147-152

28. Altunoğlu U, Denayer E, Rosti RÖ, Karaman B, Kayserili H. Türk Noonan sendromlu hastalarda genotip-fenotip ilişkisi. Türkiye Klinikleri J Pediatr. 2009. 18(3): 174-80.

29. Matur Z, Poyraz M, Uyguner O, Kayserili H, Güveli B, Baykan B. Migren, Ak Madde Lezyonları ve Subaraknoid Kanama: Geniş Bir Aile Ağacının Hikâyesi. Nöropsikiyatri Arşivi. 47:162-5, 2010

BOOK CHAPTERS

1. Yüksel Apak M, Başaran S, Kayserili H. Tıbbi Genetik. In: Devecioğlu Ö, Cantez T (eds). Pediatride Rutinler. İstanbul: Nobel Tıp Kitapevleri, 1. Baskı 2000: 451-61.

2. Yüksel Apak M, Başaran S, Kayserili H, Tükel T. Tıbbi Genetik. In: Cantez T, Eker Ömeroğlu R, Uğur Baysal S, Oğuz F (eds). Çocuk Sağlığı ve Hastalıkları. İstanbul, Nobel Tıp Kitabevleri, 2003: 177-204.

3. Yüksel Apak M, Kayserili H. Tıbbi Genetik. In: Devecioğlu Ö, Öneş SÜ, Ünüvar E (eds). Pediatride Rutinler. İstanbul, İstanbul Medikal Yayıncılık, 2.baskı 2005, 669-78.

4. Kayserili H. İskelet Displazileri. In Neyzi O & Ertuğrul T (eds.) Pediatri. XXII. Bölüm: Kemik ve eklem hastalıkları (pp 1801-1840). İstanbul: 2010, Nobel Tıp Kitapevi.

5. Kayserili H. Dismorfoloji. In Hasanoğlu E, Düşünsel R, Bideci A (eds.), Temel Pediatri. VI. Bölüm: Genetik (pp.233-41) 2010, Ankara Güneş Tıp Kitapevleri.

6. Kayserili H, Açarsöz D, Uyguner ZO, Wilson R, Karaman B, Başaran S, "Konjenital Adrenal Hiperplazi: Moleküler Tanı, Fenotip / Genotik Korelasyonu Ve Antenatal Izlem Deneyimlerimiz (1990-2009)", Endokrinoloji Diabet Yıllığı. Yarman S, Alagöl F (eds). İstanbul Tıp Kitapevi, İstanbul, ss.103-113, 2013

7. Hande Yağmur, Atıl Yüksel, Hülya Kayserili. Prenatal sonographic diagnosis and evaluation of isolated macrodactyly. In Choy RKW, Leung TY (eds). Prenatal Diagnosis Morphology Scan and Invasive Methods. 59-70 pp. Croatia, InTech, 2012.

8. F. Güngör Uğurlucan, Hülya Kayserili, Atıl Yüksel. Prenatal Evaluation of Fetuses Presenting with Short Femurs. In Choy RKW, Leung TY (eds). Prenatal Diagnosis Morphology Scan and Invasive Methods. 71-85 pp. Croatia, InTech, 2012.

9. Kayserili H, Başaran S, Uyguner ZO, Karaman B. Tıbbi Genetik. In Devecioğlu Ö, Çıtak A (eds). Pediatride Rutinler. 3. Baskı. İstanbul Tıp Kitapevi, 2014. ss.747-61.

PRESENTATIONS AT SCIENTIFIC MEETINGS

INVITED LECTURES AND ORAL PRESENTATIONS AT INTERNATIONAL SCIENTIFIC MEETINGS

1. Kayserili H., Başaran S., Apak Yüksel M. Aplasia of the tibia with bifid femur and ectrodactyly. Seventh International Clinical Genetics Seminar on Dysmorphology and Genetics of Cardiovascular Disorders (May 27-June 1993), Greece, Samos. Abstract book p:58.


2. Apak YM., Tükel T., Kayserili H., Gülhan A., Onan U., Saka N., Başaran S.: Gingival Fibromatosis, Hypertrichosis, Dysplasia of the Terminal phalanges and a Distinctive Facies in Two Male Patients. 8th International Clinical Genetics Seminar, (June 23-28, 1996), Aegean Sea, Greece. Abstract book p: 67 (O1)

3. Kayserili H., Tükel T., Yüksel A., Kılıç G., Apak YM : Two New Cases With Limb/Pelvis Hypoplasia Syndrome (LPHAS, Al Awadi/Raas-Rothschild Syndrome). 8th International Clinical Genetics Seminar, (June 23-28, 1996), Aegean Sea, Greece. Abstract book p: 107 (p:9)

4. Van Bokhoven H, van Beusekom E, Celli J, Kayserili H, Brunner HG: The gene for autosomal recessive Robinow syndrome is located in 9q. 49th Annual Meeting of the American Society of Human Genetics (ASHG), (October 19-23, 1999), San Francisco, California. Am J Hum Genet 65 ; 4 A32 (OP 166)

5. Celli J, Kayserili H, Van Beusekom E, Balci S, Brussel W, Skovby F, Kerr B, Perçin EF, Akarsu N, Van Bokhoven H, Brunner HG : Homozygous null mutations of ROR2 tyrosine kinase cause the autosomal recessive form of Robinow syndrome : 32nd Annual Meeting of the (ESHG) European Human Genetics , ( 27-30 May 2000), Amsterdam, the Netherlands. Eur J Hum Genet 8; (suppl 1) : 48 (SP-096)

6. Mancini GMS, van Diggelen OP, di Rocco M, Andria G, Kayserili H, Halley D. Studies on the Pathogenesis of CostelloSyndrome. 34th EMG (European Metabolic Group) Meeting, Zurich, Switzerland, 31 May-2 June, 2002.

7. Norgett E, Üzümcü A, Uyguner O, Dindar A, Kayserili H, Nisli K, Dupont E, Severs N, Yüksel-Apak M, Kelsell D.P, Wollnik B, Loss of desmoplakin isoform I causes severe arrythmogenic left and right ventricular cardiomyopathy, palmoplantar keratoderma and wolly hair. European Human Genetics Conference (June 12-15, 2004) Munich Germany, C54 pg 77

8. Uzumcu A, Uyguner O, Dindar A, Norgett EE, Kayserili H, Nisli K, Yüksel-Apak M, Kelsell DP, Wollnik B, Loss of desmoplakin isoform I causes severe arrhythmogenic left and right ventricular cardiomyopathy, palmoplantar keratoderma and woolly hair. 6th Balkan Meeting on Human Genetics, Thessaloniki Greece, Aug 28-31, 2004 abstract book pg.21.

9. Vega H, Waisfisz Q, Gordillo M, Sakai N, Yanagihara I, Yamada M, van Gosliga D, Kayserili H, Xu C, Ozono K, Jabs EW, Inui K, Joenje H. Mutations in ESCO2, establishment of cohesion 1 homolog 2 (S.cerevisease), cause Roberts syndrome. 37th EHGC, Meeting Prague, Czech Republic, May 7-10 2005

10. Kayserili H. (Conference) Genetic mechanisms in human sex determination. Intersex, One day Symposium, Military Museum and Cultural Center, Istanbul Turkey, May 1, 2006

11. Wollnik B, Brunner HG, Kayserili H, Uyguner O, Nürnberg G, Lew ED, Dobbie A, Eswarakumer VP, Uzumcu A, Ulubil-Emiroğlu M, Leroy JG, Li Y, Becker C, Lehnerdt K, Cremers CW, Yüksel Apak M, Nürnberg P, Kubish C, Schlessinger J, van Bokhoven H, Rohmann E. Mutations in different components of FGF-signalling in LADD syndrome. European Journal of Human Genetics, v. 14 supplement 1 May 2006, European Human Genetics Conference (C73), Amsterdam Hollanda, 6-9 May 2006

12. Uyguner O, Ghanbari A, Üzümcü A, Karaman B, Kayserili H, Wollnik B, Yüksel- Apak M, Başaran S. The formation of isochromosome 12p in 8 caese with Palister-Killian syndrome. 6th European Cytogenetics Conference (6th ECC). 7-10 July, 2007. İstanbul-Turkey. Abstract book pp.258. Poster no.: 13.1.O. (sözlü sunum)

13. Akarsu NA, Kayserili H, Vargel I, Alanay Y, Candan Ş, Tunçbilek G, Uyguner O, Balcı S. An undescribed phenotype associated with cranio-fronto-facia-nasal malformations, total alopecia and genital abnormalities. European Human Genetics Conference, Barcelona Spain, 31 May-03 June, 2008, abstract book pg 16, C01.6


14. Akarsu NA, Kayserili H, Uz E, Niessen N, Vargel I, Alanay Y, Tunçbilek G, Yiğit G, Uyguner O, , Candan Ş, Okur H, Kaygın S, Balcı S, Mavili E, Alikaşifoğlu M, Wollnik B. . ALX4 dysfunction disrupts craniofrontonasal and hair follicle development. European Human Genetics Conference, Vienna, Austria, May23-26, 2009, abstract book pg 20, C04.3

15. Hulya Kayserili. (Conference) Craniofrontal Dysostosis: clinical spectrum and diagnosis IV. Dysmorphology Days Nisan 24-25, 2009 . Istanbul

16. Candan Ş. Wollnik B. Kayserili H. Two BPES Syndrome families from Turkey: Two Novel mutations IV. Dysmorphology Days, Nisan 24-25, 2009 . Istanbul

17. Aslanger A,. Pehlivan D, Rosti RO, Kayserili H. A very rare autsomal recessive MCA/MR syndrome: Acro-cardio-facial syndrome (ACFS) . IV. Dysmorphology Days Nisan 24-25, 2009 . Istanbul

18. U. Altunoğlu, B. Karaman, S. Basaran, H. Kayserili. Girl with left hemiatrophy reveals confined mosaicisms for r(13) in fibroblasts. IVth Dysmorphology Days “CRANIRARE Educational Contribution” 24-25 April 2009, İstanbul, Türkiye

19. Bartholdi D, Krajewska-Walasek M, Ounap K, H. Gaspar, K.H. Chrzanowska, H. IIyana, H. Kayserili, I.W.Luire, A. Schinzel, A. Baumer. Familial cases with hypomethylation of the imprinted IGF2-H19 domain in Silver Russel Syndrome (SRS). European Human Genetics Conference 2009, Vienna, Austria, May 23-26, 2009

20. Hulya Kayserili (Conference) Ethical issues in genetic counseling. MediMedGen, Mediterranean Medical Genetics Meeting 2009 Bilkent, Ankara, Turkey 28 June – 1 July 2009.

21. Hülya Kayserili . ALX4-related autosomal recessive frontonasal dysplasia-case presentation. First European Dysmorphology Club, AMC Conference Center, Amsterdam, the Netherlands, 10 March, 2010.

22. Hülya Kayserili (invited lecture). Clinical spectrum of craniofrontonasal and related Syndromes. Thursday May 20st: Meeting of the French Medical Genetics Group. ( Troisiémes Jeudis) Necker-Enfants Malades, University Paris Descartes amphitheatre Maurice Lamy, Paris- France. May 20th 2010

23. Dagmar Wiezcorek, S. Seland, H JLudecke, S. Böhringer, L.Klein-Hitpass, C. Daumer-Haas, N. Elçioğlu, H. Hameister, H Kayserili, A Kobelt, D. Müller, O Rittinger, S Spranger, G. Strobl-Wildemann, J Vodoplutz, R Brekelmans, D.R. Lochmann, U Hehr. Treacher Collins Syndrome- detailed genetic and phenotypic analysis. C.08.1 ESHG Gothenburg, Sweden, June 12-15 2010.

24. E. Kalay, G. Yiğıt, Y. Aslan, K. Brown, E. Pohl, L. Bicknell, H. Kayserili, Y. Li, B. Tüysüz, G. Nürnberg, W. Kiess, M. Koegl, I. Baessmann, K. Buruk, B. Toraman, S. Kayıpmaz, S. Kul, M. İkbal, D. Turner, M. Taylor, J. Aerts, C. Scott, K. Milstein, H. Dollfuss, D. Wieczorek, H. Brunner, M. Hurles, A. Jackson, A. Rauch , P. Nürnberg, A. Karagüzel, B. Wollnik. Mutations of CEP52 encoding a centrosomal preotein cause Seckel syndrome with defective DNA damage response. ( oral presentation, C11.1) European Human Genetics Conference 2011, May 28-31, 2011. Amsterdam, the Netherlands., abstract book p. 37.

25. Yüksel Apak M, Apak S, Uyguner ZO, Karaman B, Gülgönen A, Kayserili H, Wollnik B. ( oral presentation) A large duplication of the IHH-Locus Mimics Acrocallosal Syndrome. Abstract pg 20, V. Dysmorphology Days, Taksim Istanbul 29-30 April, 2011.

26. Aslanger AD, Kayserili H, Toksoy G, Karaman B, Başaran S, Uyguner O. How to approach lissencephaly/subcortical band heterotopia spectrum. Clinical Genetics 78(1) 2010. Abstract of the 9th National Medical Genetics Congress


of Turkish Medical Genetics Society with International Participation December 1-5,2010 p. 13(2/05), (oral presentation).

27. Dinçkan N, Guven Y, Özgür H, Aktören O, Uyguner ZO, Kayserili H. Novel p.D419Y mutation in SH3BP2 gene cause Cherubism in a Turkish Family. Clinical Genetics 78(1) 2010. Abstract of the 9th National Medical Genetics Congress of Turkish Medical Genetics Society with International Participation December 1-5,2010 p. 25(A31), (oral presentation award, 2nd)

28. E. Dumortier, F.Escande-Narducci, M. Holder-Espinasse, J. Andrieux, H. Kayserili , J. Amiel, J. Alessandri, D. Boggio, D. Bonneau, V. Cormier-Daire, A. David, M. Delrue, B. Doray, B. Gilbert, B. Leheup, G. Morin, L.Perrin, N.Philip, S. Manouvrier-Hanu. Clinical and molecular analyses in series of 28 pateints carrying a pathogenic SALL4 mutation ( poster P02.213)Clinical genetics and Dysmorphology . European Human Genetics Conference 2011, May 28-31, 2011. Amsterdam, the Netherlands., abstract book p.118.

29. Altunoglu U., Kalelioglu İ., Has R., Yüksel A., Kayserili H. Hydrolethalus Syndrome with additional features. V. Dysmorphology Days. Taksim, İstanbul. 29-30 April (2011)

30. G. Yigit, F. Percin, Y. Li, N. Bögershausen, L. Basel-Vanagaite, H. Kayserili, Y. Alanay, K. E. Brown, E. Milz, R. Wirth, P. Prontera8, A. Küchler, V. Cormier-Daire, D.Wieczorek, B. Wollnik;. Increased sensitivity to DNA damage in a recessive form of Weaver syndrome caused by functional loss of an E3 ubiquitin ligase . European Human Genetics Conference June 23-26 2012. Nürnberg, Germany. European Journal of Human Genetics Vol 20. Supplement1.

31. Hulya Kayserili (invited lecture). Continuum from monogenic to polygenic and multi-factorial disease. (Conference) , P4 Predictive Preventive Personalized Participatory Medicine Meeting. Anadolu Üniversitesi, Eskişehir, Türkiye. September 13-16 2012

32. E. Pohl, N. Offenhäuser, F. F. J. Kersten, A. Üzümcü, Y. Li, A. K. Rzadzinska, O. Uyguner, G. Yigit, B. Lorente, G. Nürnberg, M. Emiroglu, H. Kayserili, B. Karaman, I. del Castillo, S. Basaran, M. Y. Apak, P. Nürnberg, T. Moser, C. Kubisch, K. P. Steel, P. P. Di Fiore, H. Kremer, B. Wollnik. A novel molecular and functional mechanism predisposing to ototoxicity . European Human Genetics Conference June 23-26 2012. Nürnberg, Germany. European Journal of Human Genetics Vol 20. Supplement1. PL2.4

33. B. Wollnik, E. Pohl, N. Offenhäuser, A. Uzumcu, F.J. Kersten,A.K. Rzadzinska, O. Uyguner, B. Lorente, G. Nürnberg, M. Emiroglu, H. Kayserili, I. del Castillo, P. Nürnberg, T. Moser, C. Kubisch, K.P.Steel, P.P. Di Fiore, H. Kremer, Y. Li. Plenary lecture 1. A novel molecular and functional mechanism predisposing to ototoxicity. American Society of Human Genetics 62nd Annual MeetingNovember 6–10, 2012 San Francisco, California

34. Hulya Kayserili, Sofie Symoens, Fransiska Malfait, Sanne D’hondt, Bert Callewaert, Annelies Dheedene, Wouter Steyaert, Hans Peter Bachinger, Anne De Paepe, Paul J Coucke. Complete deficiency for CREB3L1, encoding the ER-stress transducer OASIS, causes severe autosomal recessive Osteogenesis Imperfecta in Humans. International Skeletal Dysplasia Society 11th Biennial Meeting Bologna, Italy August 28 - 31, 2013

35. Miriam Schmidts, Aideen Aideen, Claudio Cortes, Hulya Kayserili, Nursel Elcioglu, Beyhan Tuysuz, Andreas Zankl, Emma Duncan, Philip Beales, Carol Wicking, Hannah Mitchison. Investigating the molecular basis of Jeune Asphyxiating Thoracic Dysplasia (JATD) using Whole Exome Sequencing and functional follow up studies. International Skeletal Dysplasia Society 11th Biennial Meeting Bologna, Italy. August 28 - 31, 2013

36. Caroline Michot, Carine Le Goff, Yasemin Alanay, Geneviève Baujat, Alice Goldenberg, Bertrand Isidor, Hulya Kayserili, Martine Le Merrer, Marleen Simon, Valérie Cormier-Daire. Clinical and molecular review of 26 cases


with acrodysostosis or acroscyphodysplasia : Phenotypic spectrum of PDE4D and PRKAR1A mutations. International Skeletal Dysplasia Society 11th Biennial Meeting Bologna, Italy. August 28 - 31, 2013

37. M. Ansari, A. Meynert, H. Bengani, D. Braunholz, D. C. Soares, R. C. M. Hennekam, H. Kayserili, S. Avci, E. Wakeling, J. Tolmie, K. Tatton-Brown, M. Splitt, T. Homfray, A. F. Brady, S. G. Mehta, A. Ross, F. J. Kaiser, M. S. Taylor, D. R. FitzPatrick. Trio-based exome sequencing in ten unrelated cases of atypical CdLS. European Human Genetics Conference 2014. May 30 - June 03 2014, Milano, İtalya. C05.6

POSTER PRESENTATIONS AT INTERNATIONAL SCIENTIFIC MEETINGS

1. Başaran S., Hekim N., Kayserili H., Aydınlı K., Özarmağan G., Yüksel-Apak M.: Paracentric inversion 14 and chromosome instability in two unreleated patients with primary amenorrhea. 6th Annual Meeting of The German Society of Human Genetics, (23-26 March 1994), Düsseldorf, Germany. Med Genetik 1:116.

2. Kılıç G, Kayserili H, Başaran S, Schinzel A, Apak YM.: Karyotype and phenotype correlations in structural abnormalities of chromosome 18. 26th Annual Meeting ESHG, (June 1-5 1994), Paris, France. Book of Abstracts

3. Kayserili H., Başaran S., Schinzel A., Apak YM.: Two new cases with partial duplication of 22q. 26 th Annual Meeting ESHG, (June 1-5 1994), Paris, France. Book of Abstracts

4. Onay T., Topaloğlu Ö., Gökgöz N., Kayserili H., Çokuğraş H., Söylemez Y.,Topaloğlu Ö., Gökgöz N., Akçakaya N., Apak M.Y., Kırdar B.:The Molecular Basis of CF in Turkey . 27 th Meeting of the Society of Human Genetics ( ESHG ) & 7th Annual Meeting of the Society of Human Genetics in Germany (GfH) (23-27 May, 1995), Berlin , Germany. Med Genetik 2:259,

5. Başaran S., Kayserili H., Ganbari E., Apak YM. Mixed gonadal dysgenesis: The cytogenetic findings in different tissues and phenotypes of nine patients. 27 th Meeting of the European of the Human Genetics ( ESHG ) & 7th Annual Meeting of the Society of Human Genetics in Germany (GfH), (23-27 May, 1995), Berlin, Germany. Med Genetic 2:234

6. Kılıç G., Yüksel A., Kayserili H., Başaran S., Yüksel- Apak M.:A prenatally diagnosed case of interstitial deletion of chromosome 4q. 27 th Meeting of the Society of Human Genetics ( ESHG ) & 7th Annual Meeting of the Society of Human Genetics in Germany (GfH), (23-27 May, 1995), Berlin, Germany. Med Genetik 2:234

7. Kayserili H., Başaran S., Kılıç G., Yüksel- Apak M. : Microphtalmia with linear skin defects ( MLS ) syndrome ; A further case. 27 th Meeting of the Society of Human Genetics ( ESHG ) & 7th Annual Meeting of the Society of Human Genetics in Germany (GfH), (23-27 May, 1995), Berlin , Germany. Med Genetic 2:234, E-64

8. Kayserili H, Dorak M, Çarin M., Kırdar B., Apak M.Y. : Down syndrome and Major Histocompatility Complex (MHC) association: Homozygosity for HLA-A3/-DR53 ?. International Down’s syndrome Meeting, (20-22 October,1995), Antalya, Turkey. Abs.p. 41 (IDSM 107)

9. Karaman B., Başaran S., Kılıç G., Şenkaya T., Kayserili H., Apak Y. M.: Cytogenetic results of 740 cases with Down syndrome. International Down’s syndrome Meeting, (20-22 October,1995), Antalya-Turkey. Abs.p.67 (IDSM 306).


10. Azaklı Z., Başaran S., Kayserili H., Aydınlı K, Yüksel A., Apak Y. M.: Reasons of refraining from a prenatal invasive test of the women who have increased risk for DS children. International Down’s syndrome Meeting, (20-22 October,1995), Antalya-Turkey. Abs.p.73 (IDSM 401).

11. Başaran S, Kayserili H, Keser İ, Schinzel A, Lüleci G, Apak-Yüksel M : Three Further Cases of Duplication 3q. The 28th Meeting of the ESHG, (April 1996), London, England. Eur J Hum Genet 1996 ; 4 (1) : 31 (P 3.040).

12. Kılıç G, Başaran S, Karaman B, Engür A, Kayserili H, Apak-Yüksel M :A Structurally Abnormal Chromosome 22 Characterized By Fluorescence In situ Hybridization. The 28th Meeting of the ESHG, (April 1996), London, England. Eur J Hum Genet 1996 ; 4 (1) : 31 (P 3.039).

13. Karaman B, Başaran S, Kayserili H, Yüksel M : Identification of a De Novo Structural Abnormal X Chromosome by Fluorescence In situ Hybridization. The 28th Meeting of the ESHG, (April 1996), London, England. Eur J Hum Genet 1996 ; 4 (1) : 31 (P 3.038).

14. Çelik A, Eraslan S, Gökgöz N, Kayserili H, Apak M, Kırdar B : Screening of point mutations by heteroduplex analysis in Turkish DMD/BMD patients. The 28th Meeting of the ESHG, (April 1996), London, England. Eur J Hum Genet 1996 ; 4 (1) : 63 (P 5.037)

15. Savaş S, Gökgöz N, Kayserili H, Polat D, Apak M, Kırdar B : Molecular analysis of childhood onset spinal muscular atrophy in Turkish families. The 28th Meeting of the ESHG, (April 1996), London, England. Eur J Hum Genet 1996 ; 4 (1) : 63 (P 5.038).

16. Onay T, Topaloğlu O, Gökgöz N, Kayserili H, Cokugras H, Söylemez Y, Akcakaya N, Apak M, Kırdar B : Identification of the CFTR gene mutations in Turkey. 28th Meeting of the ESHG, (April 1996), London, England. Eur J Hum Genet 1996 ; 4 (1) : 63-64 (P 5.039).

17. Başaran S., Karaman B., Kılıç G., Şenkaya T., Ganbari E., Kayserili H., Apak YM: Yüksel A., Aydınlı K., İbrahimoğlu L., Ermiş H.: The Rate of Unbalanaced Chromosome Aberrations Prenatal diagnosis Experience. 2nd Balkan Meeting on Human Genetics, (3-6 September 1996), Istanbul, Turkey. Abstract book P: b47.

18. Kayserili H., Küçük Y., Tükel T., Dutly F., Apak YM : Beckwith-Wiedemann syndrome : Clinical Cytogenetic and Molecular Findings in Turkish Patients. 2nd Balkan Meeting on Human Genetics, (3-6 September 1996), Istanbul, Turkey. Abstract book P :e66.

19. Kayserili H., Tükel T., Çıtak A., Dutly F., Yüksel-Apak M: Clinical and Molecular Analysis of Wiliams-Beuren’s Patients . 2nd Balkan Meeting on Human Genetics, (3-6 September 1996), Istanbul-Turkey. Abstract book p: e67.

20. Kayserili H., Aydınlı K., Apak YM: Rizzo W.B., : The Exclusion of Sjögren Larsson Syndrome in A High Risk Pregnancy Using Enzymatic Methods. 2nd Balkan Meeting on Human Genetics, (3-6 September 1996), Istanbul-Turkey. Abstract book p: e68.

21. Kayserili H., Saraç H., Güray A., Tükel T., Apak YM: A Further Case of Neu-Laxova Syndrome From Turkey. 2nd Balkan Meeting on Human Genetics, (3-6 September 1996), Istanbul, Turkey. Abtract book p: e69.

22. Savaş S., Gökgöz N., Kayserili H., Polat D., Apak-Yüksel M, Kırdar B : Molecular analysis of SMN gene in Turkish Spinal muscular atrophy Patients. 5th Asian and Oceanian Congress of Child Neurology, ( 9-11 October 1996 ), İstanbul, Turkey. Abstract book p 227 (PO 127).


23. Eraslan S., Gökgöz N., Çelik A., Kayserili H., Apak M., Kırdar B : Screening of the deletion carriers in DMD/BMD families. 5th Asian and Oceanian Congress of Child Neurology, ( 9- 11 October 1996), İstanbul, Turkey. Abstract book p: 52 (SI Ba).

24. Çelik A., Eraslan S., Gökgöz N., Kayserili H. Apak M. Kırdar B : Screening of point mutations by heteroduplex analysis in Turkish DMD/BMD families. 5th Asian and Oceanian Congress of Child Neurology, (9-11 October 96), İstanbul, Turkey. Abstract book p : 225 (PO 125).

25. Eraslan S., Gökgöz N., Çelik A., Kayserili H., Aydınlı K., Başaran S., Apak M., Kırdar B : Prenatal Diagnosis in Turkish DMD/BMD families. 5th Asian and Oceanian Congress of Child Neurology, (9-11 October 1996), İstanbul, Turkey. Abstract book, p.226 (PO 126).

26. Kayserili H., Kilpatrick MW., Yüksel A., Apak YM., and Tsipouras P.: Prenatal diagnosis of Achondroplasia by direct sequence analysis of the transmembrane domain of the FGFR3 gene. American Society of Human Genetics, (29 October – 2 November 1996) , San Franscisco, USA. Am J Hum Genet 59;4 : A323 (P 1881).

27. Özbey H, Saka N., Avlan S., Aksöyrek F., Darendeliler H., KayseriliH., Baş F. Salman T., Çelik A : Gender Assignment in Female Congenital Adrenal Hyperplasia : What place for Controversy. Intersex An International Workshop 6 November VI. Session, (4-6 November 1996), Istanbul-Turkey .

28. Tadmouri, G.O, Bilenoğlu O., Kantarcı S., Kayserili H., Perrin P., Başak AN : A rare mutation IVS-1-130 (GA) in a Turkish beta-thalassemia major patient. 6th International Conference on Thalassemia and the Haemoglobinopathies 8th Annual Thalassemia Parent and Thalassaemics Internatıonal Conference, (5-10 Aprıl 1997), Malta, Italy. Book of Abstracts P:224

29. Onay, T., Topaloğlu, O., Kayserili, H., Cokuğraş, H., Söylemez, Y., Akcakaya, N., Apak, M., Kırdar, B. : Identification of 4 novel mutations and 1 sequence variation in Turkish CF patients. The 29th meeting European Society of Human Genetics, (17-20 May 1997), Genoa, Italy. Book of Abstracts p: 164 (P 4.343).

30. Savaş, S., Gökgöz, N., Kayserili, H., Polat, D., Ozkınay, F., Apak, M., Kırdar, B. : Molecular analysis of spinal muscular atrophy-associated genes in Turkish families. The 29th meeting of the European Society of Human Genetics, (17-20 May 1997), Genoa, Italy. Book of Abstracts p: 168 (P 4.361).

31. Bilenoğlu, O., Tadmouri G.O, Kantarcı, S., Kayserili, H., Perrin, P., Başak, A.N. : A rare mutation in a Turkish beta-thalassemia major patient : IVS-1-130 (G-A) The 29th meeting of the European Society of Human Genetics, (17-20 May 1997), Genoa, Italy.Book of Abstracts p:177 (P 5.004)

32. Karaman, B., Başaran, S., Kılıç, G., Aytan, M., Kayserili, H., Apak, M. :The identification of de novo structural chromosome abnormalities by FISH. 1st European Cytogenetics Conference, ( June 22-25 1997 ), Athens, Greece. Cytogenet Cell Genet 1997 ; 77 (5) : 158 (P23).

33. Savaş, S., Gökgöz, N., Kayserili, H., Özkınay, F., Apak, M., Kırdar, B. : Deletion analysis of SMNtel, NAIP BTF2p44tel genes in Turkish SMA families 30th Annual Meeting of the European Society of Human Genetics, (10-13 May 1998), Lisboa, Portugal. Abstract book p: 142 (P 4.145).

34. Eraslan, S., Çelik, A., Gökgöz, N., Kayserili, H., Apak, M. , Kırdar, B. : Screening of point mutations using SSCP and heteroduplex analysis in Turkish DMD/BMD families. 30th Annual Meeting of the European Society of Human Genetics, (10-13 May 1998), Lisbon, Portugal. Abstract book p: 139 (P 4.124)


35. Onay, T., Topaloğlu, O., Kayserili, H., Camcıoğlu, Y., Cokugras, H., Akcakaya, N., Apak ,M., Kırdar, B.: Cystic fibrosis mutations and associated haplotypes in Turkey 30th Annual Meeting of the European Society of Human Genetics, (10-13 May 1998), Lisbon, Portugal. Abstract book p: 144 ( 4.158).

36. F Baş, H Kayserili, F Darendeliler, H Günöz, N Saka : Clinical and Genetics Evaluation in 8 patients with Beckwith-Wiedemann Syndrome (BWS). 38th Annual Meeting of the European Society for Pediatric Endocrinology (ESPE), ( 29 August-1 September, 1999 ),Warsaw, Poland. Hormone Research 1999; 51 (suppl 2): 140 (R.30).

37. Somer A.,Yalçın I., Salman N., Poyrazoğlu Ş., Kayserili H., Kılıç G., Apak M.: X-Linked Hyperımmunoglobulin M Syndrome: A Case Report . Fifth Regional Congress Of Pediatrich Societies Turkish Speaking Countries With International Participation, (September 25-28,1999), Bishkek,Kyrgyzstan. Abstract book p: 95.

38. Yüksel-Apak M, Tükel T, Ghanbari A, Kayserili H, Emiroğlu M, Hafız G,Uyguner O, Wollnik B: Heterozygous and homozygous inheritance of the Y90H mutations in the PAX3 gene in a Turkish family with Waardenburg syndrome (WS-1) and Klein-Waardenburg syndrome (WS-III). 10th International Congress of Human Genetics, (May 15-19 2001) Vienna, Austria, Eur J Hum Genet 9 (supplement 1):194 (P0488).

39. Tukel T, Yüksel-Apak M, Wei JQ, Uyguner O, Bas F, Song DX, Kayserili H, Saka N, Günöz H, Wilson RC, New MI, Wollnik B: Mutation screening and prenatal diagnosis in Turkish 21-hydroxylase deficiency families, and development of a novel semi-quantitative PCR/enzyme digestion based approach for detection of large scale deletions/conversions of the gene. 10th International Congress of Human Genetics, (May 15-19 2001) Vienna, Austria, Eur J Hum Genet 9 (supplement 1):245-307

40. Karaman B, Başaran S, Ghanbari A, Kayserili H, Tükel T, Yüksel Apak M: Chromosomal abnormalities in 1099 Turkish patients with MCA/MR. 3th European Cytogenetics Conference (7-10/07/2001) Paris, France, Annales de Genetique, vol 44 supp l, 1-190.

41. Seymen F, Tuna B, Kayserili H. Seckel Syndrome: Report of a case. 37th Annual Meeting of the Continental European Division of the International Association For Dental Research. Rome, Italy, 5-8 September, 2001.

42. Önal EP, Karaman B, Kayserili H, Tükel T, Yılmaz K, Başaran S, Yüksel-Apak M: Subtelomeric FISH Analysis of 29 Turkish Patients with Mental Retardation. 5th Balkan Meetings on Human Genetics (August 29-September 01, 2002), Sofia, Bulgaria.

43. Önal EP, Karaman B, Yılmaz K, Kayserili H, Apak MY, Başaran S. A child with balanced translocation and partial trisomy 4q / monosomy 9p born to parents, both carrying the same translocaion. 4th European Cytogenetics Conference Bologna Italy, September 6-9, 2003; Annals de Genetique/An International J of Human and Medical Genetics 46(2-3) p.253, 2003.

44. F. Seymen, B. Tuna, K. Gençay, H. Kayserili. Cockayne syndrome : report of case. 19th Congress of the International Association of Paediatric Dentistry. Now Orleans, LA, USA, 15-18 October 2003.

45. MY Apak, O. Uyguner, H. Kayserili, A. Siva, A. Altıntaş, S. Saip, G Akman-Deniz, N. Işık, Z. Yılmaz, B. Wollnik. Notch3 mutations in Turkish families with CADASIL syndrome. American Collage of Medical Genetics Annual Clinical Genetics Meeting. March 4-7, 2004.

46. Siva A, Altıntaş A, Saip S, Uyguner O, Kayserili H, Eskazan E, Albayram S, Yüksel-Apak M, Wollnik B. Notch3 mutations in two Turkish families with CADASIL syndrome. American Academy of Neurology 56th Annual Meeting Apr24-May1, 2004, Neurology 62 , P01.054, (Supplement)


47. Şahin ES, Uyguner ZO, Dindar A, Kılıç A, Eris H, Uzumcu A, Kayserili H, Nişli K, Hofner G, Rauch A, Özer S, Yüksel-Apak M, Pusch M, Wollnik B, Various novel patterns of inheritance of the Long QT syndrome: Pitfalls in molecular genetic diagnosis. European Human Genetics Conference (June 12-15, 2004) Munich Germany, P0777 pg 252 (poster)

48. Tütüncüler F, Günöz H, Baş F, Kayserili H, Saka N, Bundak R, Darendeliler F, Yüksel Apak M. The efficeincy of pamidronate therapy in severe osteoporosis due to tubulopathy associated with opsismodysplasia. 43 rd Annual Meeting of the European Society for Pediatric Endocrinology (ESPE). Basel, Switzerland, Sept 10-13, 2004 (poster)

49. Baş F, Tükel T, Apak.M, Saka N, Atalar F, Darendeliler F, Bundak R, Gökalp S, Kayserili H, Wollnik B, Günöz H. CYP21 Gene Mutations in Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: Genotype-Phenotype Correlation in Turkish Children. European Society for Paediatric Endocrinology (ESPE) 43rd Annual Meeting September 10-13, 2004, Hormone Research 62, P1-388 (Supplement).

50. Tükel T, Üzümcü A, Gezer A, Kayserili H, Yüksel-Apak M, Uyguner O, Gültekin SH, Hennies HC, Nurnberg P, Desnik RJ, Wollnik B. A new syndrome of congenital extraocular muscle fibrosis and ulnar hand anomalies maps to chromosome 21qter. 54th Meeting of American Society of Human Genetics, 26-30 October 2004, Toronto Kanada (poster)

51. H. Kayserili, C. Netzer, A. Üzümcü, B. Chung, O. Uyguner, H. Hennies, P. Numberg, C. Kubisch, M. Yüksel-Apak, B. Wollnik. Clinical and molecular characterization of a novel autosomal recessive Norrie-like syndrome. 37th ESHG, Meeting, Prague, Czech Republic, May 7-10 2005, P0062 pg.93.

52. Karaman B, Yılmaz K, Kayserili H, Yüksel-ApakM, Başaran S. Complex chromosomal rearrangements involving chromosome 4, 5, 6, 9, 11 and 18 with 8 breakpoints in a pregnancy conceived by intracytoplasmic sperm injection. 5th European Cytogenetics Conference Madrid Spaib June 4-5, 2005. Chromosome research vol 13 suppl. 1 2005.( 131.1P) Poster.

53. Kayserili H, Wollnik H, Uyguner ZO, Yüksel Apak M, Sandhoff K. Biochemical and molecular characterization of mutant GM2 activator deficiency gene in a Turkish family. European Journal of Human Genetics, v. 14 supplement 1 May 2006, European Human Genetics Conference (P0713), Amsterdam Hollanda, 6-9 May 2006 (poster)

54. Rosti RO, Uzumcu A, Koçbaş AD, Uyguner ZO, Kayserili H. A large Turkish Bazex-Dupre-Christol syndrome family. European Journal of Human Genetics, v. 14 supplement 1 May 2006, European Human Genetics Conference (P0034), Amsterdam Hollanda, 6-9 May 2006 (Poster)

55. Kocbaş AD, Kayserili H, Karaman B, Başaran S, Yüksel-Apak M. New MCA/MR syndrome; Distinct Facial Features with Cerebellar and Genital Hypoplasia. European Journal of Human Genetics, v. 14 supplement 1 May 2006, European Human Genetics Conference (P0212), Amsterdam Hollanda, 6-9 May 2006 (Poster)

56. Pehlivan D, Karaman B, Yılmaz K, Kayserili H, Başaran S. A rare case of mosaic 22q11 microdeletion syndrome presenting with atypical features. European Journal of Human Genetics, v. 14 supplement 1 May 2006, European Human Genetics Conference (P0303), Amsterdam Hollanda, 6-9 May 2006 (Poster)

57. Karaman B, Kayserili H, Yılmaz K, Kırmızı N, Öztürk H, Demir Z, Apak-Yüksel M, Başaran S. Subtelomeric rearrangements in children with multiple congenital anomalies and mental retardation. 6th European Cytogenetics Conference (6th ECC). 7-10 July, 2007. İstanbul-Turkey. Abstract book pp.50. Poster no.: 1.63-P.


58. Yılmaz K, Karaman B, Uzumcu A, Koçbaş A, Kırmızı N, Demir Z, Uyguner O, Kayserili H, Başaran S. A case with non-mosaic de novo monosomy Xp and trisomy Xq21.2→Xqter: paternal in origin. 6th European Cytogenetics Conference (6th ECC). 7-10 July, 2007. İstanbul-Turkey. Abstract book pp.50. Poster no.: 1.64-P.

59. Kırmızı N, Karaman B, Kayserili H, Yılmaz K, Başaran S. A further case with pure de novo tandem duplication 12p. 6th European Cytogenetics Conference (6th ECC). 7-10 July, 2007. İstanbul-Turkey. Abstract book pp.51. Poster no.: 1.65-P.

60. Öztürk H, Karaman B, Kayserili H, Yılmaz K, Apak-Yüksel M, Başaran S. A new case with microduplication 22q11.2 inherited from mosaic father. 6th European Cytogenetics Conference (6th ECC). 7-10 July, 2007. İstanbul-Turkey. Abstract book pp.51. Poster no.: 1.67-P.

61. Demir Z, Karaman B, Kayserili H, Apak-Yüksel M, Başaran S. Dicentric chromosome 22 causing partial trisomy of 22q10→q13 in a child with Cat Eye syndrome phenotype. 6th European Cytogenetics Conference (6th ECC). 7-10 July, 2007. İstanbul-Turkey. Abstract book pp.61. Poster no.: 1.90-P.

62. Rosti Ö, Karaman B, Kayserili H, Kırmızı N, Başaran S. A de novo complex chromosome rearrangement with breakpoints 8q24.13. 6th European Cytogenetics Conference (6th ECC). 7-10 July, 2007. İstanbul-Turkey. Abstract book pp.85. Poster no.: 1.143-P.

63. Altunoğlu U, Karaman B, Kayserili H, Yılmaz K, Başaran S. De novo monosomy of 22pter->q13 caused by unusual unbalanced translocation. 6th European Cytogenetics Conference (6th ECC). 7-10 July, 2007. İstanbul-Turkey. Abstract book pp.95. Poster no.: 1.165-P

64. Candan Ş, Karaman B, Kayserili H, Kırmızı N, Başaran S. A case of monosomy 8p23.3->pter and 16p13.3-pter; cytogenetic, molecular cytogenetic and clinical findings. 6th European Cytogenetics Conference (6th ECC). 7-10 July, 2007. İstanbul-Turkey. Abstract book pp.96. Poster no.: 1.167-P.

65. Koçbaş A, Karaman B, Başaran S, Yüksel Apak M, Kayserili H. Palister-Killian phenotype and follow-up data of 12 cases with 12p tetrasomy and trisomy. 6th European Cytogenetics Conference (6th ECC). 7-10 July, 2007. İstanbul-Turkey. Abstract book pp.99. Poster no.: 1.174-P.

66. Semerci CN, Şatıroğlu Tufan NL, Turan S, Bereket A, Tüysüz B, Yılmaz E, Kayserili H, Karaman B, Semiz S, Düzcan F, Bağcı H. Detection of Y chromosomal material in patients with a 45,X karyotype by PCR method. 6th European Cytogenetics Conference (6th ECC).7-10 July, 2007. İstanbul-Turkey. Abstract book pp.125. Poster no.: 1.238-P.

67. Pehlivan D, Açarsöz D, Azaklı Z, Kayserili H, Başaran S. False negative results in non-invasive Down syndrome screening tests. 6th European Cytogenetics Conference (6th ECC). 7-10 July, 2007. İstanbul-Turkey. Abstract book pp.249. Poster no.: 12.15-P.

68. Üzümcü A, Ghanbari A, Karaman B, Uyguner O, Kayserili H, Wollnik B, Yüksel-Apak M, Başaran S. Identification of parental origins and delineation of structural abnormalities involving chromosome 9. 6th European Cytogenetics Conference (6th ECC). 7-10 July, 2007. İstanbul-Turkey. Abstract book pp.261. Poster no.: 13.7-P.

69. Kayserili H, Uyguner O, Emiroglu MU, Basarer N, Wollnik B. Homozygous c2763delT (p. P425Pfx62) in Col 11A2 gene causes no-mRNA decay in otospondylomegaepeiphyseal dysplasia (OSMED). 8th Meeting of the International Skeletal Dysplasia Society Albi, France. July19-22, 2007 Molecular characterization no: 15 (poster)

70. Pehlivanoglu S, Mıhçı E, Kayserili H, Çalşıkan MO, Taçoy Ş, Luleci G, Alper OM. FGFR2 mutations in Turkish patients with craniosynostosis syndrome by DHPLC. European Human Genetics Conference, Barcelona, Spain. 31 May-03 June, 2008, EJ Hum Genet 16:Supp. 2. P01.156 (Poster)


71. Uyguner ZO, Kayserili H, Güven G, Emiroğlu MU, Başerer N, Wollnik B. A novel homozygous COL11A2 deletion causes a C-terminal protein truncation without mRNA decay in a Turkish patient. European Human Genetics Conference, Barcelona Spain, 31 May-03 June, 2008, EJ Hum Genet 16:Supp. 2. P01.162 (Poster)

72. Güven G, Kayserili H, Üzümcü A, Eriş H, Karaman B, Başaran S, Uyguner O. Investigation of CYFIP1 and CYFIP2 genes in patients with autosomal recessive non-syndromic mental retardation. European Human Genetics Conference, Barcelona Spain, 31 May-03 June, 2008, EJ Hum Genet 16:Supp. 2. P05..144 (Poster)

73. Bas F, Darendeliler F, Kayserili H, Uyguner O, Wollnik B, Saka N, Yüksel-Apak M, Basaran S, Bundak R, Günöz H. CYP21 gene mutations in congenital adrenal hyperplasia : Geneotype-phenotype correlation in Turkish children. 47th Annual Meeting of the European Society for Pediatric Endocrinology (ESPE) Istanbul, Turkey September 20-23,2008. Hormone Research 2008 ; 70 (suppl1 ) p 156 p2d2525 sex differentiation

74. Kayserili H, Güran T, Rosti Ö, Bereket A. Hypertelorism, fractures and mild delay: confirmation of an entitiy . Can it be named ‘’Dysosteoscraniofrontal Syndrome’’?. 13th Manchester Dysmorphology Conference , Manchester Conference Center 28th to 31st October 2008. Posters 29

75. Altunoglu U, Karaman B, Basaran S, Kayserili H. Girl with left hemiatrophy reveals confined mosaicims for r(13) in fibroblasts. European Human Genetics Conference, Vienna, Austria, May23-26, 2009, EJ Hum Genet 17:Supp. 2. P03.108

76. Karaman B, Kayserili H, Kaleleioğlu İ, Has R, Basaran S. Prenatal diagnosis of de novo terminal deletion 4p in 5 cases. Seventh European Cytogenetics Conference, Stocholm, Sweden 4-7 July, 2009 Chromosome Research 17. Supp. 2009 p 222 13. 40 –P

77. Kayserili H., Altunoglu U., Özgür H., Başaran S., Uyguner ZO. New ALX4 phenotype due to novel homozygous mutation. p.Q2225E. Clinical Genetics and Dysmorphology Meeting. 12-15 June 2010. ESHG, Göteborg Sweden, pp 76, P02.081.

78. Özgür H, Toksoy G, Altunoglu U, Kayserili H, Başaran S, Uyguner O. Novel de novo splice site mutation in EFNB1 gene cause craniofrontonasal syndrome. Clinical Genetics 78(1) 2010. Abstract of the 9th National Medical Genetics Congress of Turkish Medical Genetics Society with International Participation December 1-5,2010 p. 25(A32).

79. Hülya Kayserili, Carine Bonnard, Hanan, Tülay Güran, Anna Stobl, Elif Uz, Ayça Dilruba Aslanger, Kamel Ajlouni, Hane Lee, Abdullah Bereket, Barry Merriman, Bruno Reversade. ‘’Hamamy Syndrome’’ (Fronto-cardio-skeletal syndrome; Dysosteocraniofrontal Syndrome), the first human phenotype linked to a very early expressed transcription factor gene family. 14.th Manchester Dysmorphology Conference, October 11-14, 2010. Manchester, United Kingdom.

80. H. Kayserili, A. D. Aslanger, U. Altunoglu, E. Aslanger, B. Satkin, Z. O. Uyguner. Novel c.1731delC mutation in RIN2 gene in two Turkish siblings with MACS / RIN2 syndrome. European Human Genetics Conference 2012. Nürnberg, Germany. European Journal of Human Genetics Vol 20. Supplement1. P02.157

81. S. Ergin, B. Karaman, B. Satkin, I. H. Kalelioglu, H. Kayserili, A. Yuksel, S. Basaran. Array-CGH results in fetuses with central nervous system. European Human Genetics Conference 2012. Nürnberg, Germany. European Journal of Human Genetics Vol 20. Supplement1. P05.07


82. S. Basaran, B. Karaman, M. Kirgiz, G. Toksoy, I. H. Kalelioglu, R. Has, K. Aydinli, H. Ermis, H. Kayserili, T. Dehgan, B. Satkin, A. Yuksel. Indications for Fetal Karyotyping and Ultrasonographic Findings in Common Trisomies; Alterations in over 2 Decades. European Human Genetics Conference 2012. Nürnberg, Germany. European Journal of Human Genetics Vol 20. Supplement1. P05.22

83. B. Karaman, B. Satkin, I. H. Kalelioglu, R. Has, S. Ergin, H. Kayserili, H. Ermis, A.Yuksel, S. Basaran; Chromosomal Imbalances in Holoprosencephaly Sequence; Results of 87 Cases Diagnosed Prenatally. European Human Genetics Conference 2012. Nürnberg, Germany. European Journal of Human Genetics Vol 20. Supplement1. P05.29

84. G. Toksoy, B. Karaman, Z. Uyguner1, K. Yılmaz1, R. Has, H. Kayserili, S. Basaran The Efficiency Of Multiplex Ligation-Dependent Probe Amplification Technique In The Diagnosis Of Fetal Chromosomal Abnormalities; European Human Genetics Conference 2012. Nürnberg, Germany. Eur J Hum Genet Vol 20. Supp 1. P05.36

85. O. Z. Uyguner, M. Kocaoglu, G. Toksoy, S. Basaran, H. Kayserili ;Novel indel mutation in CDMP1 gene is associated with brachydactyly type C in a four generation Turkish family. European Human Genetics Conference 2012. Nürnberg, Germany. European Journal of Human Genetics Vol 20. Supplement1. P12.030

86. B. Fischer, T. Gardeitchik, A. Dimopoulou, D. Kouwenberg, S. Sprenger, C. Schlack, B.Fauler, S. Mundlos, L. Nijtmans, H. Kayserili, B. Wollnik, E. Morava, U. Kornak Further molecular characterization of PYCR1-related cutis laxa; European Human Genetics Conference 2012. Nürnberg, Germany. European Journal of Human Genetics Vol 20. Supplement1. P12.061

87. Hülya Kayserili, Umut Altunoglu, Bilge Satkın. Expanding the spectrum for KIF7 related phenotypes : The mildest and of the spectrum. 15. Manchester Dysmorphology Conference, Manchester, England. October 22-25 2012

88. T. Roscioli, E-J. Kamsteeg, K. Buysse, I. Maystadt, J. van Reeuwijk, C. van den Elzen, E. Van Beusekom, M. Riemersma,R. Pfundt, L.E.L.M. Vissers, M. Schraders, M.F. Buckley, H.G. Brunner, H. Zhou, J.A. Veltman, C. Gilissen, G.M.S. Mancini, M.A. Willemsen, D. Petkovic´ Ramadzˇa, D. Chitayat, C. Bennett, E. Sheridan, E.A.J. Peeters, G.M.B. Tan-Sindhunata, H. Kayserili, O. Abd El-Fattah El-Hashash, D.L. Stemple, D.J. Lefeber, Y-Y. Lin, H. van Bokhoven. Next generation sequencing detects mutations in ISPD as a common cause of Walker-Warburg syndrome with defective glycosylation of adystroglycan. American Society of Human Genetics 62nd Annual MeetingNovember 6–10, 2012 San Francisco, California. 214

89. M. Schmidts, H.H. Arts, Z. Yap, E.M.H.F Boengers, D. Anthony, M.M. Oud, S. alTurki, L. Duijkers, J. Stalker, J.B. Yntema, A. Hoischen, R. Bogdanovic, A. Peco-Antic, C. Gillisen, H. Kayserili, I. Veltman, A. Kutkowska, E.J. Kamsteeg, R.C.M. Hennekam, P. Scambler, P.L. Beales, C. UK10K Consortium, N.V.A.M. Knoers, R. Roepman, H.M. Mitchison. DYNC2H1 Mutations are commonly found in Jeune Asphyxating Thoracic Dysplasia (JATD) without extraskeletal features while IFT140 mutations cause JATD with renal involvement. American Society of Human Genetics 62nd Annual MeetingNovember 6–10, 2012 San Francisco, California. 216

90. Sahin Avcı, Bilge Nihan Satkın, Z. Oya Uyguner, Umut Altunoğlu, Hülya Kayserili. Aarskog-Scott syndrome: Four molecularly proven cases. European Human Genetics Conference 2013. June8-11, 2013, Paris, France.

91. Z. Oya Uyguner, Hilal Özgür, Umut Altunoğlu, Güven Toksoy, Seher Başaran, Hans van Bokhoven, Hülya Kayserili. Is Arg5 in HOX_DNA binding domain of HOXB1 hot spot for congenital facial paralysis mimicking Moebius syndrome? June 8-11, 2013, Paris, France.

92. Nuriye Dinçkan, Hülya Kayserili, Z. Oya Uyguner. Contribution of MSX1, PAX9, AXIN2 and WNT10A genes in four families with non synromic tooth agenesis. June8-11, 2013, Paris, France.


93. Firdevs Dinçsoy, Nuriye Dinçkan, Yeliz Güven, Umut Altunoğlu, Senem Selvi Kuvvetli, Firdevs Baş, Z. Oya Uyguner and Hülya Kayserili. Drawbacks of genotype-phenotype correlation in Cleidocranial Dysplasia in eleven families. June8-11, 2013, Paris, France.

94. Volkan Karaman, Umut Altunoğlu, Güven Toksoy, Birsen Karaman, Hülya Kayserili, Z. Oya Uyguner. Molecular Test Results of Syndromic Craniosynostosis Patients: genotype- phenotype correlations. June 8-11, 2013, Paris, France

95. H. Kayserili, U. Altunoglu, C. Bonnard, A. Ayaz, Y. Guven, B. Reversade. Three new patients with Hamamy syndrome: expanding the phenotype. European Human Genetics Conference 2014. May 30 - June 03 2014, Milan, Italy. P11.071-S

96. S. Basaran, B. Karaman, M. Kirgiz, I. H. Kalelioglu, R. Has, H. Kayserili, A. Yuksel. Trisomy 16 Detected In Chorionic Villous Samples; Evaluation of 10 New Cases. European Human Genetics Conference 2014. May 30 - June 03 2014, Milan, Italy . P01.116-M

97. G. Toksoy, Z. Karakaş, H. Kayserili, V. Karaman, S. Başaran, Z. Uyguner. HBB gene mutation spectrum of beta-thalasemia patients from Turkey. European Human Genetics Conference 2014. May 30 - June 03 2014, Milan, Italy. P07.04-M

98. V. Karaman, G. Toksoy, S. Avcı, B. Karaman, U. Altunoglu, S. Basaran, H. Kayserili, Z. O. Uyguner. Molecular Diagnostic Algorithm of Syndromic Craniosynostosis. European Human Genetics Conference 2014. May 30 - June 03 2014, Milan, Italy. P11.049-S

99. U. Altunoglu, C. Bonnard, S. Avcı, B. Karaman, B. Reversade, H. Kayserili. Unique frontonasal dysplasia case with anencephaly with possible link to a novel gene. European Human Genetics Conference 2014. May 30 - June 03 2014, Milan, Italy. P11.066-M

100. S. Gümüs, S. Sapmaz, U. Altunoglu, H. Kayserili . Two cases of Opitz GBBB syndrome. European Human Genetics Conference 2014. May 30 - June 03 2014, Milan, Italy. P11.111-S

101. B. Peterlin, L. Vidmar, P. Borry, M. Cornel, C. van El, F. Fellmann, F. Forzano, L. Henneman, H. Howard, H. Kayserili, C. Patch, A. Maver; Expanded carrier screening tests currently on the commercial market. European Human Genetics Conference 2014. May 30 - June 03 2014, Milan, Italy. P14.75-S

102. B. Karaman, N. Satkin, U. Altunoglu, G. Toksoy, H. Kayserili, O. Uyguner, S. Basaran. Homozygous SHOX gene deletion detected by array CGH in a girl with langer mesomelic dysplasia. European Human Genetics Conference 2014. May 30 - June 03 2014, Milan, İtalya. J04.33

103. O. Z. Uyguner, D. Ustek, G. Toksoy, Z. Gormez, O. Hacariz, M. Sagiroglu, S. Basaran, H. Kayserili. Novel alteration in AMPD2 gene segregates with non-syndromic intellectual disability linked to MRT4 locus, conjointly responsible from Pontocerebellar hypoplasia. European Human Genetics Conference 2014. May 30 - June 03 2014, Milan, Italy. J08.05

104. T. Kalayci, N. B. Satkın, U. Altunoğlu, B. Karaman, H. Kayserili. 17q22 microdeletion syndrome; a case report. European Human Genetics Conference 2014. May 30 - June 03 2014, Milan, Italy . J11.01

INVITED LECTURES, ORAL AND POSTER PRESENTATIONS AT NATIONAL SCIENTIFIC MEETINGS


1. Kayserili H, Kuseyri F, Karaman B, Kılıç G, Güler A, Başaran S, Apak YM. Tekrarlayan fetal kayıpları olan çiftlerde sitogenetik incelemeler. Ankara Üniversitesi Tıp Fakültesi 2. Ulusal Çocuk Sağlığı Kongresi (27-30 Nisan 1992), Ankara. Özet kitabı [sözlü sunum]

2. Kayserili H, Elkabez B, Hüner G, Demirkol M, Yüksel A, Apak YM. Alfa-1-antitripsin eksikliğinde moleküler incelemeler ve prenatal tanı. 16. Pediatrik Gastroenteroloji ve Hepatoloji Kongresi, (26-28 Nisan 1994 ), İstanbul. Özet kitabı, s99 [sözlü sunum]

3. Yıldız K., İnce Ü., Yüksel A., Aydınlı K., Kayserili H. Perinatal Otopsi ile Prenatal Tanı ve Genetik Değerlendirmenin Korelasyonu. XI. Ulusal Patoloji Kongresi (5-9 Ekim 1994). Kuşadası, İzmir. Özet kitabı s169 (P-246) [en iyi poster çalışması ödülü]

4. Kayserili H., Ataman M., Güler A., Fryns J.P., Apak YM. Frajil-X sendromu : Klinik, sitogenetik ve moleküler sonuçlarımız. Ulusal 3. Tıbbi Biyoloji Kongresi (29 Ekim-1 Kasım 1994), Antalya. Özet kitabı (SG-71) [en iyi poster çalışması ödülü]

5. Kılıç G., Kayserili H., Başaran S., Schinzel A., Apak YM. 18. kromozoma ait yapısal anomalilerde karyotip-genotip korelasyonu. Ulusal 3. Tıbbi Biyoloji Kongresi, (29 Ekim - 1 Kasım 1994), Antalya. Özet kitabı (SG-96/A)

6. Şenkaya T., Başaran S., Yüksel A., Aydınlı K., İbrahimoğlu L., Ermiş H., Karaman B., Güler A., Kılıç G., Kayserili H., Apak M.Y. : Patolojik US bulgularında sitogenetik inceleme sonuçları. Ulusal 3. Tıbbi Biyoloji Kongresi, (29 Ekim - 1 Kasım 1994), Antalya. Özet kitabı (SG-96/B )

7. Polat D., Başaran S., Kayserili H., Karaman B., Tolunay A., Kırdar B.,Apak M.Y: Duchenne Kas Distrofisi için riskli ailelerde prenatal tanı uygulamalarımız. Ulusal 3. Tıbbi Biyoloji Kongresi, (29 Ekim - 1 Kasım 1994) , Antalya. Özet kitabı (MG-98)

8. Baysal B., Serdaroğlu H., Buyru F., Kayserili H., Bengisu E: Laparoskopik Gonadektomi. 1. Uluslararası Jinekoloji ve Obstetrik Kongresi, (3-6 Haziran 1995), Antalya. Özet kitabı s13 p16

9. Tükel T. Kayserili H., Matthijs G., Cassiman Y.Y., Çalışkan M., Apak YM.: SMA Hastalarında genetik danışma ve Prenatal Tanıda Moleküler çalışmaların önemi : 36 ailede ilk sonuçlarımız. II. Çocuk Nörolojisi Günleri, (21-22 Eylül 1995), İstanbul. Özet kitabı [sözlü sunum]

10. Poda M., Deymeer F., Serdaroğlu P., Kayserili H., Apak YM. Özdemir C., Özçelik T : SMNt ve SMNc (Survival Motor Neuron) Genlerinin PCR ile SMA Hastalarında İncelenmesi. II. Çocuk Nörolojisi Günleri, (21-22 Eylül 1995), İstanbul. Özet kitabı [sözlü sunum]

11. Eraslan S., Gökgöz N., Çelik A., Kayserili H., Apak YM.: Türk DMD/BMD ailelerinde DNA analizi. II. Çocuk Nörolojisi Günleri, (21-22 Eylül 1995), İstanbul. Özet kitabı [sözlü sunum]

12. H. Kayserili, A.Güler, G.Matthijs, P Fryns, M.Özmen, M.Y.Apak : Frajil- X sendromu : Genetik danışma ve prenatal tanıda moleküler incelemelerin rolü. II. Çocuk Nörolojisi Günleri,(21- 22 Eylül 1995), İstanbul. [sözlü sunum]

13. Sevtap Savaş, Nalan Gökgöz, Hülya Kayserili, Deniz Polat, Memnune Y Apak, Betül Kırdar.: Türk Spinal Müsküler Atrofi Ailelerinin Moleküler Analizi. XIII. Ulusal Biyokimya Kongresi, (26-30 Mart 1996), Antalya. Özet kitabı,(C-129)

14. Bilge, I., Kayserili, H., Değerli, İ., Baş, F., Tükel, T., Kılıç, G., Günöz H, Nayır A, S. Emre, Şirin A : Turner Sendromunda Ürogenital Sistem Bulguları. XLI. Milli Pediatri Kongresi, (27-30 Haziran 1997), Van. Özet kitabı (Pl19)

15. Baş F., Kayserili H., Darendeliler F., Apak YM., Saka N. : Beckwith Wiedemann Sendromlu (BWS) 4 Olguda Klinik ve Genetik Yaklaşım. II. Ulusal Pediatrik Endokrinoloji Kongresi, (8-10 Ekim 1997), Bornova-İzmir. Özet kitabı s 59 (P38)


16. Eraslan, S., Çelik, A., Gökgöz, N., Kayserili, H., Apak, M., Kırdar, B. : Türk DMD/BMD Ailelerinde SSCP ve Heterodupleks Analizi Kullanılarak Nokta Mutasyonlarının Taranması. 3. Ulusal Prenatal Tanı ve Tıbbi Genetik Kongresi, (26-30 Nisan 1998), Marmaris, Muğla. Özet kitabı, s 77 (SS 7) [sözlü sunum]

17. Ghanbari, A., Kayserili, H., Karaman, B., Aydınlı, K., Başaran, S., Apak, M.: Prenatal evrede saptanan ender bir de novo ins(9;13) (q22.2;q12.3q14) olgusu 3.Ulusal Prenatal Tanı ve Tıbbi Genetik Kongresi, (26-30 Nisan 1998), Marmaris, Muğla. Özet kitabı, s 90 (PT 10)

18. Sadıkoğlu, B., Kayserili, H., Hüner, G., Tükel, T., D’Alessio, M., Apak, M. : Pilor Atrezisi ile Birlikte Junctional Epidermolizis Bülloza Saptanan Bir Olgu 3. Ulusal Prenatal Tanı ve Tıbbi Genetik Kongresi, (26-30 Nisan 1998), Marmaris, Muğla. Özet kitabı, s 95 (KG 2)

19. Karaaslan, N., Tükel, T., Kayserili, H., Apak, M. : Ulnar Mammary Sendromu Tanımlanan İlk Türk Ailesi 3. Ulusal Prenatal Tanı ve Tıbbi Genetik Kongresi, (26-30 Nisan 1998), Marmaris, Muğla. Özet kitabı, s 96 (KG 3)

20. Berkil, H., Tükel, T., Kayserili, H., Apak, M. : De Barsy sendromlu Bir Olgu Sunumu 3. Ulusal Prenatal Tanı ve Tıbbi Genetik Kongresi, ( 26-30 Nisan 1998), Marmaris, Muğla. Özet kitabı, s 101 (KG 13).

21. Aytan, M., Karaman, B., Kılıç, G., Kayserili, H., Tükel, T., Başaran, S., Apak, M.:CATCH 22 Sitogenetik ve Moleküler Sitogenetik Bulguları. 3. Ulusal Prenatal Tanı ve Tıbbi Genetik Kongresi, (26-30 Nisan 1998), Marmaris, Muğla. Özet kitabı, s 102 (SG 1)

22. Onay, T., Kayserili, H., Apak, M., Camcıoğlu Y, Çokuğraş H, Akçakaya N, Kırdar B : Türk Kistik Fibroz Hastalarında Saptanan mutasyonlar ve Bağlantı Haplotipleri 3. Ulusal Prenatal Tanı ve Tıbbi Genetik Kongresi, (26-30 Nisan 1998), Marmaris, Muğla. Özet kitabı, s 116 (MG 1)

23. Uyguner, O., Wollink, B., Kayserili, H., Tükel, T., Kılıç, G., Başaran, S., Cenani,A., Apak, M. : Frajil-X sendromunun moleküler tanısında PCR uygulamaları 3. Ulusal Prenatal Tanı ve Tıbbi Genetik Kongresi, (26-30 Nisan 1998), Marmaris, Muğla. Özet kitabı, s 119 (MG 6).

24. Kayserili, H., Onay, T., Apak, M., Kırdar, B. : CBAVD Hastasının CFTR Geninin 7.Eksonunda Yeni Bir Yanlış Anlamlı Mutasyonun (S307N) Belirlenmesi 3. Ulusal Prenatal Tanı ve Tıbbi Genetik Kongresi, (26-30 Nisan 1998),Marmaris, Muğla.Özet kitabı, s 122 (MG 11)

25. Eraslan, E.İ., Apak , M., Özmen, M., Kayserili, H.: Frajil-X sendromlu çocuklarda psiko-elementer eğitim programı uygulaması IV. Çocuk Nörolojisi Günleri, (11-14 Kasım 1998), İstanbul. Özet kitabı s 30 (P 22)

26. Somer A., Kayserili H., Yalçın I., Salman N., Poyrazoğlu Ş., Durandy A., Apak M.: Hyper İmmunglobin M Sendromu: İki Olgu Sunumu. 15. Ulusal İmmunoloji Kongresi, (13-16 Ekim 1999 ), Antalya. Özet kitabı (P 29)

27. Yalçın I., Somer A., Sarıbeyoğlu E., Salman N., Kayserili H., Ochs H.D., Apak M.: Lökosit Adhezyon Defekti Tip 1: Olgu Sunumu. 15. Ulusal İmmunoloji Kongresi, ( 13-16 Ekim 1999 ), Antalya. Özet kitabı s 38

28. E. Sarıbeyoğlu, A.Yeşildal, T.Tükel, H. Kayserili, M. Apak : Williams sendromu : 25 olgumuzun klinik bulguları ve moleküler sonuçlarının sunumu. 22. Pediatri Günleri ve 2.Pediatri Hemşireliği Günleri, (18-21 Nisan 2000 ), İstanbul. Özet kitabı s 244, (P 4) [en iyi poster çalışması ödülü]

29. A. Söğüt, H. Kayserili, T. Tükel, M.Y. Apak : Proteus sendromu. 22.Pediatri Günleri ve 2. Pediatri Hemşireliği Günleri, (18-21 Nisan 2000 ), İstanbul. Özet kitabı s 244 (P 9).

30. Adnan Yüksel, Hülya Kayserili, Turgut Tükel, Birsen Karaman, Seher Başaran, Memnune Yüksel Apak : Genetik polikliniğinde incelenen multiple konjenital anomali / mental retardasyon grubunda spesifik genetik tanı oranları. IV.Ulusal Prenatal Tanı ve Tıbbi Genetik Kongresi, (3-6 Mayıs 2000), İzmir. Özet kitabı s 165 (KG-31)

31. Birsen Karaman, Seher Başaran, Asadollah Ghanberi, Hülya Kayserili, Turgut Tükel, Memnune Yüksel Apak : De Novo Dengesiz Kromozom Anomalileri : Tanısı ve Sınıflandırılması. IV.Ulusal Prenatal Tanı ve Tıbbi Genetik Kongresi, (3-6 Mayıs 2000), İzmir. Özet kitabı s207 (SG-25)


32. Turgut Tükel, Memnune Yüksel Apak, Oya Uyguner, Firdevs Baş, Hülya Kayserili, Nurçin Saka, Hülya Günöz, Bernd Wollnik : Steroid 21-Hidroksilaz eksikliği olan çocukluk yaş grubu hastalarda CYP21 geni mutasyonlarının araştırılması. IV.Ulusal Prenatal Tanı ve Tıbbi Genetik Kongresi, (3-6 Mayıs 2000), İzmir.Özet kitabı s 249 (MG-21)

33. Hülya Kayserili, Turgut Tükel, Deniz Açarsöz, Esadullah Ghanberi, Memnune Yüksel Apak : Lizozomal Depo Hastalıklarında post ve prenatal tanı deneyimlerimiz. IV. Ulusal Prenatal Tanı ve Tıbbi Genetik Kongresi, (3-6 Mayıs 2000), İzmir. Özet kitabı s 250 (Mg-22)

34. Anıl Yeşildal, Ebru Sarıbeyoğlu, Turgut Tükel, Memnune Yüksel Apak, Hülya Kayserili, Günter Hafız, Melike Emiroğlu, Bernd Wollnik : Waardenburg Sendromu : 6 Türk ailesine ait 16 hastada klinik ve moleküler değerlendirme sonuçlarımız. IV. Ulusal Prenatal Tanı ve Tıbbi Genetik Kongresi, (3-6 Mayıs 2000), İzmir. Özet kitabı s 260 (MG-32) [en iyi poster çalışması ödülü]

35. Deniz Açarsöz, Hülya Kayserili, Seher Başaran, Birsen Karaman, Turgut Tükel, Oya Uyguner, Memnune Yüksel Apak : Tek Gen Hastalıklarında Post ve PrenataL Tanı Sonuçlarımız. IV.Ulusal Tanı ve Prenatal Tanı Kongresi, (3-6 Mayıs 2000), İzmir. Özet kitabı s 261 (MG-33).

36. Adnan Yüksel, Hülya Kayserili, Turgut Tükel, Memnune Yüksel-Apak : Mental Retardasyonlu 3025 çocukta spesifik Genetik Tanı Oranları. Ulusal Çocuk Nörolojisi Kongresi, (14-16 Mayıs 2000), Ankara. Özet kitabı s 105 (P-29).

37. N. Aydınlı, M. Calay, H. Kayserili, M. Çalışkan, M. Özmen : Sjogren Larsson Sendromunda manyetik rezonans spektroskopi. Ulusal Çocuk Nörolojisi Kongresi, (14-16 Mayıs 2000), Ankara. Özet kitabı s 98 (P-22)

38. A. Yüksel, H. Kayserili, T. Tükel, D. Açarsöz, S. Başaran, M. Y. Apak. Mental retarde çocuklarda Frajil X Sendromu : Klinik, sitogenetik ve moleküler değerlendirme. 7th Mediterranean Child Neurology and 3rd Turkish Child Neurology Joint Congress and 5th Child Neurology Meeting, 30 May-1 June 2001, İstanbul-Turkey. Özet Kitabı (TP 46)

39. E. Eraslan, H. Kayserili, M. Özmen, D. Açarsöz, M. Y. Apak. Frajil X Sendromlu çocuklarda Brushing (Wilbarger protokolü) eğitim programı uygulanması. 7th Mediterranean Child Neurology and 3rd Turkish ChildNeurology Joint Congress and 5th Child Neurology Meeting (30 Mayıs-1 Haziran 2001), İstanbul-Turkey. Özet Kitabı (TP 63)

40. Karaman B, Ghanbari A, Engür A, Aytan M, Yılmaz K, Toksoy G, Kayserili H, Yüksel Apak M, Başaran S.: Fetal Karyotip analizinde saptanan marker kromozomların aydınlatılması: 20 olgunluk seri sonuçları. V. Ulusal Prenatal Tanı ve Tıbbi Genetik Kongresi. Özet Kitabı sf: 56, Konya, Selçuk Üniversitesi, Meram Tıp Fakültesi; 09-12 Ekim 2002. [sözlü sunum]

41. Önal E. Perim, Karaman B, Kayserili H, Yılmaz K, Tükel T, Başaran S, Yüksel Apak M.: Mental Retardasyonlu 29 olguda subtelomerik FISH analizi. V. Ulusal Prenatal Tanı ve Tıbbi Genetik Kongresi. Özet Kitabı sf: 55, Konya, Selçuk Üniversitesi, Meram Tıp Fakültesi; 09-12 Ekim 2002. [sözlü sunum]

42. Kılıç G, Başaran S, Kayserili H, Macit S, Yüksel Apak M, Aytoz A. : Resiprokal bir translokasyon taşıyıcısında preimplentasyon genetik tanısı. V. Ulusal Prenatal Tanı ve Tıbbi Genetik Kongresi. Özet Kitabı sf: 82, Konya, Selçuk Üniversitesi, Meram Tıp Fakültesi; 09-12 Ekim 2002 [en iyi sözlü sunum ödülü]

43. Kayserili H. [konferans]. Nadir Genetik Hastalıklara Yaklaşım. V. Ulusal Prenatal Tanı ve Tıbbi Genetik Kongresi. Özet Kitabı sf: 44-45, Konya, Selçuk Üniversitesi, Meram Tıp Fakültesi; 09-12 Ekim 2002

44. Kayserili H. [konferans]. Dismorfoloji Forumu. 46.Milli Pediatri Kongresi, 15-19 Ekim 2002, Mersin

45. Kayserili H. Merkezi Sinir Sistemi Malformasyonları. 47. Milli Pediatri Kongresi - 3. Çocuk Hemşireliği Kongresi-2.Pediatri Asistanları Kongresi. 21-23 Ekim 2003, Çırağan Palace Hotel Kempinski, İstanbul [panel].

46. Kayserili H. Uzmanına Danışalım. Dismorfik Çocuk. 47. Milli Pediatri Kongresi-3. Çocuk Hemşireliği Kongresi-2. Pediatri Asistanları Kongresi. 21-23 Ekim 2003, Çırağan Palace Hotel Kempinski, İstanbul [panel].


47. Kayserili H. [sözlü sunum] Spina bifidalı çocuğu olan ailelere öneriler. Spina Bifida Hasta Okulu. 25.02.2004, İstanbul.

48. Kayserili H. Majör ve Minör Malformasyonlu Çocuğa Yaklaşım. 26. Pediatri Günleri ve 5. Pediatri Hemşireliği Günleri. 20-22 Nisan 2004, Crowne Plaza Hotel, İstanbul.

49. Karaman B, Ghanbari A., Önal E.P., Kayserili H, Yüksel Apak M, Başaran S. 3:1 dağılımı gösteren resiprokal translokasyonlar. VI. Ulusal Prenatal Tanı ve Tıbbi genetik Kongresi, 21-24 Nisan 2004, Bellek Antalya. [sözlü sunu]. Kongre kitapçığı sf. 68.B-8. 0.6

50. Ghanbari A, Karaman B, Kayserili H, Uyguner O, Yüksel Apak M, Başaran S, Wollnik B. Pallister-Killian Sendromlu 7 hastada sitogenetik ve moleküler inceleme sonuçları. VI. Ulusal Prenatal Tanı ve Tıbbi Genetik Kongresi, 21-24 Nisan 2004, Bellek Antalya. Kongre kitapçığı sf. 141 [poster]

51. Atalar F, Tükel T, Yüksel-Apak M, Uyguner O, Kayserili H, Wollnik B. Steroid 21-hidroksilaz eksikliğinde CYP21 geni mutasyonlarının araştırılması ve yeni PCR restriksiyon enzim kesimi yönteminin geliştirilmesi. VI. Ulusal Prenatal Tanı ve Tıbbi Genetik Kongresi, 21-24 Nisan 2004, Bellek Antalya. Kongre kitapçığı sf. 53 [bildiri].

52. Üzümcü A, Uyguner O, Şahin ES, Dindar A, Kayserili H, Nisli K, Norgett EE, Kelsel DP, Yüksel-Apak M, Wollnik B. Ağır aritmojenik sol ve sağ ventriküler kardiyomiyopati, palmoplantar keratoderma ve yünsü saç bulguları olan bir olguda desmoplakin izoform I kaybının gösterilmesi. VI. Ulusal Prenatal Tanı ve Tıbbi Genetik Kongresi, 21-24 Nisan 2004, Bellek Antalya. Kongre kitapçığı sf. 158 [poster]

53. Hülya Kayserili. Dismorfizm ve işitme kayıpları. II. Ulusal Odyoloji ve Konuşma Bozuklukları Kongresi. 23-25 Eylül 2004, The Marmara, İstanbul.

54. Kayserili H. Obezitenin eşlik ettiği genetik sendromlar. 27.Pediatri Günleri, 4-7 Nisan 2005, İstanbul

55. Kayserili H, Konjenital Kalp Hastalıklarında Genotip-Fenotip İlişkisi. 3. Ulusal Tıbbi Genetik Sempozyumu, 27-29 Mayıs 2005, Bursa [sözlü sunu]

56. Kayserili H. [konferans]. Klinik genetikte akış şemaları: Multiple konjenital anomali/mental retardasyon grubunda. VII. Ulusal Prenatal Tanı ve Tıbbi Genetik Kongresi . Kayseri, 17-20 Mayıs 2006.

57. Rosti RÖ, Karataş C, Kayserili H. Mukolipidoz Tip III: Hafif Fenotip-Zor Tanı. VII. Ulusal Prenatal Tanı ve Tıbbi Genetik Kongresi (P192). Kayseri, 17-20 Mayıs 2006 [poster]

58. Pehlivan D, Açarsöz D, Azaklı Z, Kayserili H, Başaran S. Down Sendromlu olguların antenatal dönemdeki biyokimyasal tarama testlerinin yeniden değerlendirilmesi. VII. Ulusal Prenatal Tanı ve Tıbbi Genetik Kongresi (P177). Kayseri, 17-20 Mayıs 2006 [poster].

59. Candan Ş, F Baş, Karataş M, Apak M, Kayserili H. Down sendromlu olgu serisinde tiroid disfonksiyonu etyolojisine yaklaşım. VII. Ulusal Prenatal Tanı ve Tıbbi Genetik Kongresi (P185). Kayseri, 17-20 Mayıs 2006 [poster].

60. Açarsöz D, Koçbaş AD, Sancaklı Ö, Yardımcı T, Kayserili H. Smith-Lemli Opitz sendromlu olgu: tanı kriterleri olarak üçlü testte estriol düşüklüğü. VII. Ulusal Prenatal Tanı ve Tıbbi Genetik Kongresi (P206). Kayseri, 17-20 Mayıs 2006.

61. Koçbaş AD, Kayserili H, Uyguner O, Karaman B, Başaran S, Apak MY. Frajil X Sendromu: klinik ve moleküler yaklaşımın genetik danışmaya etkisi. VII. Ulusal Prenatal Tanı ve Tıbbi Genetik Kongresi (S27). Kayseri, 17-20 Mayıs 2006 [bildiri]

62. Yılmaz K, Karaman B, Üzümcü A, Koçbaş A, Demir Z, Kayserili H, Başaran S. De novo, nonmozaik kökenli Xp monozomi ve Xp21.2→Xqter trizomili bir olgu sunumu. VII. Ulusal Prenatal Tanı ve Tıbbi Genetik Kongresi (P33). Kayseri, 17-20 Mayıs 2006 [poster].

63. Demir Z, Kırmızı N, Yılmaz K, Öztürk H, Önal EP, Karaman B, Başaran S, Kayserili H, Yüksel Apak M. Trizomi 21li 1368 postnatal olgunun kromozom analiz sonuçları. VII. Ulusal Prenatal Tanı ve Tıbbi Genetik Kongresi (P38). Kayseri, 17-20 Mayıs 2006 [poster].


64. Alper Ö, Mıhçı E, Kayserili H, Çalışkan Özcan M, Taçoy Ş, Wong CLJ, Lüleci G. Kraniyosinosztoz sendromlu Türk olgularında FGFR2 gen mutasyonları. VII. Ulusal Prenatal Tanı ve Tıbbi Genetik Kongresi (P79). Kayseri, 17-20 Mayıs 2006 [poster].

65. Hülya Kayserili [konferans]. Minör Anomalilerden Klinik Tanıya. 29.Pediatri ve 8.Pediatri Hemşireliği Günleri, 10-13 Nisan 2007, İstanbul.

66. Hülya Kayserili [konferans]. Sürrenal Hastalıkları. Konjenital adrenal hiperplazi: Tanı, genetik, tedavi ve gebelik. Mezuniyet sonrası eğitim kurusu programı. İÜ Merkez Kampüsü, Beyazıt, 21 Kasım 2008, İstanbul.

67. Hülya Kayserili [konferans]. Dismorfizmden Klinik Tanıya 6. Çocuk Nörolojisi Günleri, 24-26 Mayıs 2007 , İstanbul.

68. Hülya Kayserili [konferans]. Kalıtım Modelleri: Örnek Hastalıklarda Dismorfizmden Klinik ve Kesin Tanıya. IV. Pediatrik Endokrinoloji ve Oksoloji Derneği Sempozyumu, 8-9 Haziran 2007, İstanbul.

69. Kara B, Dilruba Koçbaş A, Gleeson JD, Kayserili H. Basit giral paternli mikrosefali tanılı 5 olgunun klinik ve radyolojik özellikleri. 4. Ulusal Genetik Sempozyumu. 4-6 Kasım. 9 Eylül Üniversitesi-İzmir. Bildiri Özet Kitabı sf.36 [sözlü bildiri], 2007.

70. Dilruba Aslanger A, Üzümcü A, Üstek D, Uyguner O, Kayserili H. Kortikal gelişim malformasyonlarında genotip-fenotip ilişkisi: Lizensefali ve serebellar hipoplazisi olan iki kuzende RELN geninin incelenmesi. 4. Ulusal Genetik Sempozyumu. 4-6 Kasım. 9 Eylül Üniversitesi-İzmir. Bildiri özet Kitabı sf.30 [sözlü bildiri], 2007.

71. Candan Ş, Kayserili H, Güven G, Eriş H, Başaran S, Uyguner O. Aristaless related homeobox (ARX) geni. 4. Ulusal Genetik Sempozyumu. 4-6 Kasım. 9 Eylül Üniversitesi-İzmir. Bildiri Özet Kitabı sf.22 [sözlü bildiri], 2007. B-8.

72. Altunoğlu U, Tatlı B, Kayserili H, Özmen M, Üzümcü A, Ulubil-Emiroğlu M, Wollnik B, Uyguner ZO. Zellweger Sendromu spektrumu: Etkilenmiş iki kardeşte fenotipik değişkenlik ve yeni PEX26 p.P118R (c.353C>G) gen mutasyonunun tanımlanması. 9 Eylül Üniversitesi-İzmir. 4. Ulusal Genetik Sempozyumu. 4-6 Kasım. Bildiri Özet Kitabı sf.34 [sözlü bildiri], 2007.

73. Pehlivan, D., D. Açarsöz, B. Karaman, S. Başaran ve H. Kayserili, “Tuberoskleroz: Klinik Tanı, Özgün Genetik danışma ve prenatal tanı sonuçlarımız” , 4. Ulusal Genetik Sempozyumu. 4-6 Kasım. 9 Eylül Üniversitesi-İzmir. Bildiri Özet Kitabı sf.26 [sözlü bildiri], 2007.

74. Özgür Rosti, Mine Çalışkan, Selçuk Apak, Hülya Kayserili. Rett Sendromlu olguda klinik özellikler ve genotip-fenotip korrelasyonu. 4. Ulusal Genetik Sempozyumu. 4-6 Kasım. 2007, 9 Eylül Üniversitesi-İzmir. Bildiri Özet Kitabı sf.24. [sözlü bildiri], 2007.

75. Kayserili H. Minör Anomaliler ve Olgulara Klinik Yaklaşım. Uluslar arası Katılımlı IIIV. Ulusal Tıbbi Genetik Kongresi. 06-09 Mayıs 2008. Çanakkale. [konferans].

76. Kayserili H, Elçioğlu N. Özgün hastalıklarda laboratuar desteği nasıl planlanmalıdır? Uluslar arası Katılımlı IIIV. Ulusal Tıbbi Genetik Kongresi. 06-09 Mayıs 2008. Çanakkale. [sözlü sunum]

77. Davut Pehlivan, Baş F., Rösti RÖ., Darendeliler F., Kayserili H. [sözlü sunum ikincilik ödülü]. Mandibuloakral displazi: olgu sunumu ve laminopatilere genel bakış. Uluslar arası Katılımlı IIIV. Ulusal Tıbbi Genetik Kongresi. 06-09 Mayıs 2008. Çanakkale.

78. Şükrü Candan, Kayserili H. Zellweger sendromu spektrumu: olgu sunumu. Uluslararası Katılımlı IIIV. Ulusal Tıbbi Genetik Kongresi. 06-09 Mayıs 2008. Çanakkale. [sözlü sunum]

79. Zeynel Demir, Karaman B., Yılmaz K., Öztürk H., Kayserili H., Başaran S. 1,9 ve 11. Kromozomlar Arasında 4 kırık noktası ile oluşan kompleks kromozom anomalisinin prenatal tanısı. Uluslar arası Katılımlı IIIV. Ulusal Tıbbi Genetik Kongresi. 06-09 Mayıs 2008. Çanakkale. [sözlü sunum]


80. Z. Gamze Güven, Kayserili H., Üzümcü A., Eriş H., Yılmaz K., Karaman B., Başaran S., Uyguner ZO. Otozomal Resesif Non-sendromik mental retardasyon olgularında CYFIP1 ve CYFIP2 genlerinin incelenmesi. 51. Uluslararası Katılımlı IIIV. Ulusal Tıbbi Genetik Kongresi. [poster] 06-09 Mayıs 2008. Çanakkale.

81. Abdullah Üzümcü, Toksoy G., Candan Ş., Uyguner ZO., Karaman B., Eriş H., Tatlı B., Kayserili H., Geçkinli B., Yüksel-Apak M., Başaran S. [poster] Moebius sendromu ile 13q11.2-q13.1 kromozomal bölgesi ilişkisinin delesyon haritalaması yöntemi ile incelenmesi. Uluslararası Katılımlı IIIV. Ulusal Tıbbi Genetik Kongresi. 06-09 Mayıs 2008. Çanakkale.

82. Umut Altunoğlu, Uyguner ZO., Kayserili H. [poster birincilik ödülü] İki yeni Limb/Pelvis hipoplazi/aplazi sendromu olgusunda klinik ve moleküler bulgularımız. Uluslararası Katılımlı IIIV. Ulusal Tıbbi Genetik Kongresi. 06-09 Mayıs 2008. Çanakkale.

83. Aslanger Ayça, Selen Ş, Uyguner ZO, Kayserili H. [sözlü sunum birincilik ödülü]. Güneşe duyarlı olmayan trikotiyodistrofi: TTDN1 geninde yeni bir “dur” kodonu mutasyonu. Uluslararası Katılımlı IIIV. Ulusal Tıbbi Genetik Kongresi. 06-09 Mayıs 2008. Çanakkale.

84. Rasim Özgür Rosti, Van Reeuwijk J, Aslanger AD, Van Bokhoven H, Kayserili H. İki kızkardeşte sendromik konjenital müsküler distrofi spektrumu: klinik ve moleküler yaklaşım. Uluslararası Katılımlı IIIV. Ulusal Tıbbi Genetik Kongresi. 06-09 Mayıs 2008. Çanakkale. [sözlü sunum]

85. Suray Pehlivanoğlu, Mıhçı E, Kayserili H, Alper Ö, Taçoy Ş, Lüleci G. Kraniosinostotik sendromlu olgularda FGFR2 geninin DHPLC analizi ile değerlendirilmesi. Uluslararası Katılımlı IIIV. Ulusal Tıbbi Genetik Kongresi. 06-09 Mayıs 2008. Çanakkale.

86. Hülya Kayserili. [konferans] Konjenital anomaliler: Temel bilgiler, klinik genetik yaklaşım. Türkiye Maternal Fetal Tıp ve Perinatoloji Derneği Marmara Bölgesi Çalışma Grubu. Kocaeli Üniversitesi Kadın Hastalıkları ve Doğum AD. 14.11.2008, Kocaeli.

87. Karaman B, Kayserili H, Kırmızı N, Öztürk H, Yılmaz K, Temur Z, Başaran S. Cinsiyet Kromozom Anomalilerinde Sitogenetik ve Moleküler Sitogenetik Yaklaşım. Endokrin Hastalıklar ve Genetik Sempozyumu, 8-10 Ekim 2009, Abant, Türkiye. [sözlü sunum]

88. Aslan H, Karaman B, Kayserili H, Güran T, Başaran S. X/Y Translokasyonuna bağlı SHOX Delesyonu Saptanan Ailede Leri-Weil ve Turner Sendromu Birlikteliği. Endokrin Hastalıklar ve Genetik Sempozyumu, 8-10 Ekim 2009, Abant, Türkiye. [sözlü sunum].

89. Satkın NB, Karaman B, Kayserili H, Kırmızı N, Yılmaz K, Öztürk H, Temur Z, Akkaya N, Başaran S. Turner Sendromunun Genotipik-Fenotipik Yelpazesi. Endokrin Hastalıklar ve Genetik Sempozyumu, 8-10 Ekim 2009, Abant, Türkiye.

90. Kayserili H. [sözlü sunum] Pediatride Uzmanına Danışalım Kursu. Genetik konsültasyon: kime, niçin, ne zaman isteyelim? Portaxe, Baltalimanı-İstanbul [21 Şubat 2010, 21 Mart 2010, 4 Nisan 2010, 2 Mayıs 2010]

91. H. Kayserili. [konferans] Pediyatride Uzmanına Danışalım. Dismorfik Çocuğa Yaklaşım. Portaxe, Baltalimanı -İstanbul [Ekim 2010, Kasım 2010, 05 Aralık 2010, 9 Ocak 2011]

92. H. Kayserili. [konferans] İşitme kayıpları ve dismorfizm. KBB Derneği, Mezuniyet Sonrası Eğitim Toplantısı, Anemon Otel, Eskişehir. 23 Mart 2010.

93. H. Kayserili. [konferans] Genetik konsültasyon kime, niçin, ne zaman isteyelim? Osmangazi Tıp Fakültesi, Çocuk Sağlığı ve Hastalıkları AD, Eskişehir, 24 Mart 2010.

94. H. Kayserili. [konferans] Dismorfik Çocuga Yaklaşım. Sitogenetik Çalıştayı Osmangazi Üniversitesi, Tıbbi Genetik AD, Eskişehir, Ekim 2010.

95. H. Kayserili. [panel konuşması] X’e bağlı kalıtım ve genetik danışmadaki zorluklar. IX. Ulusal Tıbbi Genetik Kongresi 1-5 Aralık 2010, Conrad Otel, İstanbul.


96. H. Kayserili. [konferans] Dismorfik Çocuğa Yaklaşım (8 Mart 2011). 7. Uludağ Pediatri Kış Kongresi, Grand Yazıcı Otel, Uludağ, Bursa, 06-09 Mart 2011.

97. H. Kayserili. [konferans] “Klinik Tanı ve İzlemde Genetik Yaklaşımın Katkısı” (31 Mart 2011) . 33. Pediatri Günleri ve 12. Pediyatri Hemşireliği Günleri, 28-31 Mart 2011, Ceylan Intercontinental, İstanbul.

98. H. Kayserili. [konferans] From Monogenic to Polygenic & Multifactorial Diseases. Yeditepe Tıp & Eczacılık Fakülteleri, Bireye Özgü Tıp Kongresi. 15-17 Nisan 2011, Yeditepe Kampüsü, İstanbul.

99. H. Kayserili. [panel moderatörü] Otizm. Acıbadem Üniversitesi Tıp Fakültesi, Pediatri Anabilim Dalı Toplantıları V. Acıbadem Maslak Hastanesi 4B Konferans Salonu, İstanbul, 17 Şubat 2012.

100. H. Kayserili. [panelist] Prenatal Tanı Yaklaşımı Paneli, 4 Nisan 2012. 34. Pediatri Günleri ve 13. Pediatri Hemşireliği Günleri, İstanbul, Ceylan İntercontinental Hotel, 3-6 Nisan 2012.

101. H. Kayserili. [panel moderatörü] Tiroid ve Sürrenal Paneli. 24. Endokrinoloji ve Metabolizma Hastalıkları Mezuniyet Sonrası Eğitim Kursu ve 10. Diyabet Günleri. Askeri Müze ve Kültür Sitesi, İstanbul, 17-18 Kasım 2012.

102. H. Kayserili. [lecture] Klinik değerlendirmenin özgünlüğü. İ.Ü. İstanbul Tıp Fakültesi Çocuk Sağlığı ve Hastalıkları Anabilim Dalı. Tıbbi Genetikle Tanışma, 16.12.2012.

103. H. Kayserili. [lecture] Tanı gruplarında akış şemaları. İ.Ü. İstanbul Tıp Fakültesi Çocuk Sağlığı ve Hastalıkları Anabilim Dalı. Tıbbi Genetikle Tanışma, 16.12.2012.

104. H. Kayserili. [lecture] Dismorfolojide tanımlamalar ve klinik örnekler. İ.Ü. İstanbul Tıp Fakültesi Çocuk Sağlığı ve Hastalıkları Anabilim Dalı. Tıbbi Genetikle Tanışma, 16.12.2012.

105. H. Kayserili. [lecture] Klinikten araştırmaya. İ.Ü. İstanbul Tıp Fakültesi Çocuk Sağlığı ve Hastalıkları Anabilim Dalı. Tıbbi Genetikle Tanışma, 16.12.2012.

106. Yeliz Güven, Mustafa Suat Alıkma, Sahin Avcı, Oya Aktören, Hülya Kayserili. Erythrodontia in Congenital Erythropoietic Porphyria: A Case Report. 19. Türk Pedodonti Derneği Kongresi, 04-07 Ekim 2012, Belek-Antalya. P 114 [poster].

107. Şahin Avcı, Umut Altunoğlu, Bregje van Bon, Hülya Kayserili. Schinzel Giedion Sendromu: Klinik ve Moleküler Tanılı Olgu. 10. Ulusal Tıbbi Genetik Kongresi, Bursa Uludağ Üniversitesi. 19-23 Aralık 2012.

108. Kübra Ermiş, Şahin Avcı, Umut Altunoğlu, Hülya Kayserili, Oya Uyguner, Birsen Karaman. Aynı ailede ALX1 ilişkili frontonazal displazi fenotipi ile uyumlu iki olgu sunumu. 10. Ulusal Tıbbi Genetik Kongresi, Bursa Uludağ Üniversitesi, 19-23 Aralık 2012.

109. Firdevs Dinçsoy, H. Kayserili. Lipoid Proteinozis tanılı iki olguda klinik bulgular ve moleküler sonuçlar. 10. Ulusal Tıbbi Genetik Kongresi, Bursa Uludağ Üniversitesi, 19-23 Aralık 2012.

110. H Kayserili [conference] Olgularla dismorfik bulgulardan klinik tanıya. 35. Pediatri Günleri ve 14. Pediatri Hemşireliği Günleri. Sheraton İstanbul Ataköy Otel, İstanbul. 09-12 Nisan 2013.

111. Hülya Kayserili. [konferans] Bilimsel Makalenin Yazılması. Araştırmada Temel İlkeler Kursu, İstanbul Tıp Fakültesi, 12 Nisan 2013.

112. Hülya Kayserili. Mukopolisakkoridoz Tanısı ile Genetik Yaklaşım. MPS Farkındalık Günü, Aile Toplantıları. İspirtohane, Ataköy. [26 Mayıs 2013, 25 Mayıs 2014]

113. Hülya Kayserili. [konferans] Nörogenetik Hastalıklarda Kliniğin ve Yeni Teknolojilerin Tanıya Katkısı. Çocuk Nörolojisi Aylık Toplantısı, Point Otel Taksim, 27 Kasım 2013.

114. H. Kayserili. [konferans] Hemato-onkolojik bulguları olan malformasyon sendromları. 1. Hematolojik Genetik Sempozyumu. Ege Tıp Fakültesi. 02 Aralık 2013, İzmir. [s 32]


115. H Kayserili. [panelist] Doğumsal kalp hastalıklarında genetik. Pediatrik Kardiyolojide Güncelleme 2013. 7. Geleneksel Kardiovasküler Güncelleme Toplantısı 20-21 Aralık 2013, Beyazıt - İstanbul.

116. H Kayserili, B Karaman, O Uyguner. [panelist] Genetik hastalıkların tanısında yeni teknolojilerin rolü. 36. Pediatri günleri ve 15. Pediatri Hemşireliği Günleri. Point Barbaros Hotel, İstanbul. 8-11 Nisan 2014.

117. Hülya Kayserili. [konferans] Dismorfik Çocuğa Klinik Yaklaşım. 58. Milli Pediyatri Kongresi, 26-30 Mayıs 2014 , Antalya.

118. Hülya Kayserili. [konferans] Yeni Nesil Dizileme Teknoloijilerinin Kliniğe Yansımaları. 37. Pediyatri Günleri 8-11 Nisan 2015, Grand Wyndam Levent, İstanbul

119. İstanbul Tıp Fakültesi Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, Mezuniyet Sonrası Eğitim Programı Sunumları

İstanbul Tıp Fakültesi, 1933 Reform Anfisi (1999-2008) ve İSTEM Toplantı Salonu (2011-2014)

• H. Kayserili. Dergi toplantısı. 12.05.1999.

• H. Kayserili. Mental retarde çocuğa yaklaşım. 26.05.2000.

• H. Kayserili. Patoloji için örneklerin alınması, saklanması ve taşınması. 26.10.2001.

• H. Kayserili. Mikrodelesyon sendromları, klinik ve sitogenetik yaklaşım. 18.12.2002.

• H. Kayserili. Frajil X Sendromu, klinik, sitogenetik, moleküler tanı ve ailelere yaklaşım. 28.03.2003.

• H. Kayserili. Doğumsal anomalilere genetik yaklaşım. 21.01.2004.

• H. Kayserili. Dismorfik çocuğa yaklaşım. 26.11.2004

• H. Kayserili. Kardiyovasküler sistem hastalıklarında fenotip-genotip ilişkisi. 02.12.2005.

• H. Kayserili. Tek gen hastalıklarında örnek vakalar ile prenatal tanı yaklaşımları. 06.01.2006.

• H. Kayserili. Dismorfizmden klinik tanıya I-II. 12.12.2007 - 14.12.2007

• H. Kayserili. Hiperelastisite sendromları, tanı ve tedavi. 21.03.2008.

• H. Kayserili. Makrosefali ve ilişkili sendromlar. 11.05.2011.

• H. Kayserili. Embriyogenezden genetik tanıya. 19.10.2012.

• H. Kayserili. Array teknolojilerinin klinik tanıya katkısı. 06.03.2013.

• H. Kayserili. B. Karaman, Z.O. Uyguner. Merkezi sinir sistemi ile ilgili sendromik ve non-sendromik hastalıklarda moleküler ve klinik yaklaşım. 20.12.2013.

• H. Kayserili. Hemato-Onkolojik bulguları olan malformasyon sendromları. 19.11.2014.

RESEARCH ACTIVITIES

INTERNATIONAL RESEARCH PROJECTS

• Cloning of the novel genes for new complementation group of Fanconi anemia. Fanconi Anemia Dutch Cancer Institute, 1996-7. PI: Hans Joenje, PhD. Clinical coordinators for Turkey: H. Kayserili, Ç. Altay.

• “Kraniyofasiyel Malformasyonlara Klinik ve Genetik Yaklaşım” CRANIRARE, CRANIRARE consortium [E-Rare (ERA-Net for research programs for rare diseases) network supported by European Commission under the Sixth Framework Program] SBAG- 108S312. Principal Investigator for Istanbul group, April 2009-May 2012.


• “Kraniyofasiyel Malformasyonlara Klinik ve Genetik Yaklaşım” CRANIRARE-2, CRANIRARE-2 consortium [E-Rare (ERA-Net for research programs for rare diseases) network supported by European Commission under the Seventh Framework Program] SBAG- 112S398. Principal Investigator of group 4, October 2012-ongoing.

• Novartis CAFQ056B2214/CAFQ056B2278. A randomized, double-blind, placebo-controlled, parallel group study to evaluate the efficacy and safety of AFQ056 in adolescent patients with Fragile-X syndrome. Multinational Clinical Trial. Site: 0380, PI: Hulya Kayserili. October 2012-December 2013.

NATIONAL RESEARCH PROJECTS

Kalıtsal mental retardasyonda moleküler analizler: bağlantı analizi ve aday gen taramaları

Principal Investigator: Assoc. Prof. Oya Uyguner, PhD. Associate Investigator: Assoc. Prof. Hülya Kayserili

TUBITAK SBAG- 3275, Term: 2006-9, Funding: 150.000 YTL

INSTITUTIONAL RESEARCH PROJECTS

Frajil-X sendromu ve taşıyıcıların tanısında DNA analiz yöntemlerinin kullanılması

PI: Assoc. Prof. Zehra Oya Uyguner, PhD. AI: Assoc. Prof. Hülya Kayserili, MD, PhD.

[İstanbul Üniversitesi Bilimsel Araştırma Fonu (BAP) 10006/250897; 1997-1999]

13. kromozomun q12.2-q13 bölgesinin Moebius sendromu ile olan ilişkisinin araştırılması

PI: Prof. Seher Başaran, PhD. AI: Assoc. Prof. Hülya Kayserili, MD, PhD. [BAP 480/1406; 2005-2008]

Bazex-Dupre-Christol sendromuna ait genin klonlanması

PI: Assoc. Prof. Hülya Kayserili [BAP 482/0505; 2006]

Multiple patolojik ultrason bulgusu saptanan fetuslarda kromozomların subtelomerik bölgelerinin multiprobe telomer sistem ve MLPA yöntemleri ile karşılaştırmalı olarak araştırılması

PI: Assoc. Prof. Birsen Karaman, PhD. AI: Assoc. Prof. Hülya Kayserili, MD, PhD. [BAP2008/1515; 2008-11]

Multipl konjenital anomali / mental retardasyonlu olgularda yüksek rezolüsyonlu bantlama tekniği ile interstisyel dengesizliklerin ve FISH tekniği ile subtelomerik düzenlemelerin araştırılması

PI: Assoc. Prof. Hülya Kayserili, MD, PhD. [YÖP-24/3101; 2007; 2008-10; funding 75.000 YTL]

Mikroskobik olarak dengeli translokasyon saptanan klinik olarak etkilenmiş olgularda submikroskobik yeniden düzenlenmelerin SNP/CNV array teknolojisi ile araştırılması


PI: Prof. Seher Basaran, PhD. AI: Prof. Hülya Kayserili, MD, PhD. [YÖP-13607; 2011-3; funding 75.000 YTL]

Non-spesifik mental retardasyonlu olgularda submikroskobik mikrodel/dup’ların CMA ile araştırılması

PI: Prof. Hülya Kayserili, MD, PhD. [YÖP-13619; 2011-3; funding 75.000 YTL]

Fetal MSS anomalilerinde submikroskobik kromozom anomalilerinin moleküler tekniklerle araştırılması

PI: Assoc. Prof. Birsen Karaman, PhD; AI: Assoc. Prof. Hülya Kayserili, MD, PhD. [BAP-17468; 2012-3]

Hiyalin fibromatozis sendromunun doğal seyri (klinik ve hücresel düzeyde)

PI: Assoc. Prof. Birsen Karaman, PhD; AI: Assoc. Prof. Hülya Kayserili, MD, PhD; [BAP-37625; 2013-5]

Dengesiz genomik yeniden düzenlenmelerin tanısında SNP mikro-array teknolojisinin katkıları

PI: Assoc. Prof. Birsen Karaman, PhD; AI: Assoc. Prof. Hülya Kayserili, MD, PhD [ÖNAP-8563; 2013-6]

EDUCATIONAL ACTIVITIES

Teaching experience

• 1996-2004 Applied course instructor, 4th term medical genetics, Istanbul Medical Faculty

• 2000-2004 Lecturer of pediatric genetics, 3rd, 4th and 6th term, Istanbul Medical Faculty

Lecturer, MSc and PhD programmes for genetics, Institute of Health Sciences Supervisor, 4th term pediatrics curriculum

• 2004-2014 Lecturer & instructor on medical genetics, 4th, 5th and 6th term, Istanbul Medical Faculty

Specialty training curriculum supervisor for medical genetics

• 2013- 2014 Supervisor of updated curriculum for 2nd and 3rd term students

Theses advisor

Residency, medical genetics

• Rasim Özgür Rosti, MD

Topic: Clinical and molecular studies on autosomal recessive microcephaly

Otozomal resesif mikrosefalide klinik ve moleküler çalışmalar [May 2009]

• Ayça Dilruba Aslanger, MD

Topic: Genotype-phenotype correlation in neuronal migration disorders

Nöronal migrasyon anomalilerinde genotip-fenotip ilişkisi [June 2010]


• Umut Altunoğlu, MD

Topic: Clinical classification of frontonasal dysplasia phenotypes and screening of neurocristopathy genes

FND olgularında klinik sınıflandırma ve nörokristopati genlerinin araştırılması [May 2012]

MSc & PHD, genetics

• Nuriye Dinçkan, Dt

Classification and etiopathogenesis of congenital malformations of the oral cavity and mandibula

Doğumsal ağız-çene malformasyonlarının sınıflandırılması ve etyopatogenezi [December 2011]

• Şafak Saraydemir, PhD

Topic: Identification of dysmorphic syndromes by using face recognition techniques

Görüntü işleme teknikleri kullanılarak dismorfik hastalıkların ayırt edilmesi [2012-]

Clinical advisor [ethical approval IU: 2012/69-916]

EDITORIAL RESPONSIBILITIES

International

• EJMG Editorial Board Member 2005 - present

• AJMG Part A Editorial Board Member 2010 - present

• J Hum Genet Editorial Board Member 2015 - present

National editorial board membership & reviewer

• Çocuk Dergisi [ISSN 1302-9940] 2003-2013

• Medicus Nobel 2006-2010

Reviewer

• Marmara Medical Journal

• Dokuz Eylül Üniversitesi Tıp Fakültesi Dergisi

• Türk Pediatri Arşivi

• Türkiye Klinikleri

• Turkish Journal of Hematology

• Turkish Journal of Pediatrics


CITATIONS

Citations as of February 05, 2015


education - koç Üniversitesi · education • 1991- 1998 phd on medical genetics, institute of...

Documents