1864 hubbard avenue · 1992-2000 nih medical scientist training program, san diego, ca. 1994-1998...

of 24 Bonkowsky

Curriculum Vitae Last Updated: 4/2/2018

PERSONAL DATA Name: Joshua Leitch Bonkowsky Birth Place: Boston, Mass. Citizenship: USA BUSINESS ADDRESS Division of Pediatric Neurology, Department of Pediatrics 295 Chipeta Way Salt Lake City, Utah 84108 CONTACT INFORMATION Email: [email protected] EDUCATION Years Degree Institution (Area of Study) 1987-1991 B.A. Harvard University (Biochemistry)

Cambridge, MA. 1992-2000 M.D., Ph.D. University of California-San Diego (Medicine; Biomedical Sciences) La Jolla, CA. 2000-2001 Intern University of Utah School of Medicine (Pediatrics) Salt Lake City, UT. 2001-2003 Resident University of Utah School of Medicine (Pediatrics) Salt Lake City, UT. 2003-2004 Resident Boston Children’s Hospital (Child Neurology)

Boston, MA. 2004-2006 Resident University of Utah School of Medicine (Child Neurology) Salt Lake City, UT. 2011-2012 University of Utah School of Business (Physician Executive Leadership) Salt Lake City, UT. BOARD CERTIFICATION 10/21/2003 American Board of Pediatrics (Pediatrics), Certified 09/07/2010 American Board of Pediatrics (Pediatrics), Maintenance of Certification 06/08/2007 American Board of Psychiatry & Neurology (Neurology), Certified 10/09/2013 American Board of Pediatrics (Pediatrics), Re-Certified CURRENT LICENSES/CERTIFICATIONS 2006-2018 State License (UT) 2006-2018 CS (UT) 2007-2018 DEA Certificate (UT) ACADEMIC HISTORY Neurobiology and Anatomy 02/01/2007 Hire, Adjunct Track, Adjunct Instructor 07/01/2010 Promotion, Adjunct Assistant Professor Neurology 06/01/2011 Hire, Tenure Track, Assistant Professor 07/01/2017 Promotion, Adjunct Associate Professor

of 24 Bonkowsky

Pediatrics (Pediatric Neurology) 8/01/2006 Hire, Tenure Track, Instructor 07/01/2008 Promotion, Assistant Professor 07/01/2013 Award of Tenure 07/01/2013 Promotion to Associate Professor PROFESSIONAL EXPERIENCE Full-Time Positions 2000-2003 Pediatrics Resident, University of Utah, Salt Lake City, UT. 2003-2004 Resident, Child Neurology, Boston Children’s Hospital, Boston, MA. 2004-2006 Resident, Child Neurology, University of Utah, Salt Lake City, UT. 2006-2008 Instructor, Dept. of Pediatrics, University of Utah, Salt Lake City, UT. 2008-2013 Assistant Professor, Dept. of Pediatrics, University of Utah, Salt Lake City, UT. 2013-Present Associate Professor, Dept. of Pediatrics, University of Utah, Salt Lake City, UT. Part-Time Positions Editorial Experience Editorial Boards: PLoS ONE; Associate Editor, 2011-2013. Ad Hoc Reviewer: Acta Neuropathologica. October 2006. American Journal of Medical Genetics. February 2016. March 2017. Annals of Neurology, July 2012; June 2013. BMC Pediatrics, October 2016. Cerebral Cortex, August 2015, September 2015 Chronobiology International, June 2012. Development. October 2008. July 2014. April 2017. Developmental Biology, January 2016. Developmental Dynamics. January 2007; December 2011. Developmental Neurobiology. August 2016; February 2018. European Journal of Pediatrics, November 2010 Genes, Development, and Evolution. January 2006. Human Molecular Genetics. June 2017. Journal of Child Neurology. September 2010. May 2015. August 2015. February 2016. December 2017. February 2018. March 2018. Journal of Neuroinflammation. March 2018. Journal of Pediatric Neurology. November 2008. February 2016. December 2017. Molecular Genetics and Metabolism, November 2015. Molecular Psychiatry, August 2011. Neural Development. May 2009. Neurobiology of Disease, May 2011. Neuroscience. June 2009. July 2014. Neuroscience Letters, March 2013. New England Journal of Medicine. January 2008. Orphanet Journal of Rare Diseases, August 2014. December 2016. Pediatric Infectious Diseases Journal, December 2010 Pediatric Neurology, January 2013. October 2013. Pediatrics, May 2011. August 2014. January 2017. March 2017. September 2017.

of 24 Bonkowsky

PLoS Genetics. November 2013. May 2015. PLOS One, October 2010; November 2011. April 2012. Southern Medical Journal. March 2006. Zebrafish, October 2012. June 2017. SCHOLASTIC HONORS 1987 National Merit Scholar 1991-1992 Fulbright Fellowship, Vienna, Austria 1992-2000 NIH Medical Scientist Training Program, San Diego, CA. 1994-1998 Markey Fellow in Biomedical Sciences, San Diego, CA. 2004-2006 Primary Children’s Medical Center Foundation Scholar 2010 Fellow, Society for Pediatric Research 2013 Award of Research Excellence, Society for Maternal-Fetal Medicine (33rd Annual Meeting) 2016 Visiting Fellow, Clare Hall, University of Cambridge 2016 Parke Davis Exchange Fellowship, School of the Biological Sciences, University of Cambridge 2016-Present Bray Presidential Chair of Pediatric Neurology, University of Utah School of Medicine ADMINISTRATIVE EXPERIENCE Administrative Duties 2007-Present Admissions Committee, Division of Pediatric Neurology, University of Utah. 2009-2011 Admissions Committee, Neurosciences Graduate Program, University of Utah. 2009-2015 Steering Committee, Western Intermountain Neurological Organization. 2007-2009 Web site creation and implementation for Division of Pediatric Neurology. 2011-Present Director, Pediatric Neurology Research, University of Utah 2012, 2014 Reviewer, University of Utah Seed Grant Program 2012 Steering Committee, Southwest Developmental Biology Organization Meeting 2013-2014 Centralized Zebrafish Core Faculty Advisory Board, University of Utah 2014-Present Associate Director, Centralized Zebrafish Core, University of Utah 2013-Present Imaging Core Advisory Board, University of Utah 2013-Present MD/PhD Admissions Committee, University of Utah 2014-2015 Faculty Advisor, Molecular Biology Graduate Program, University of Utah 2014-2016 Residency Director, Child Neurology Residency, University of Utah 2016-Present Associate Chief, Division of Pediatric Neurology, University of Utah 2016-Present Pediatric Neurology Representative, Brain and Spine Center, University of Utah/Primary Children’s 2017- 2018 Genomics Core Steering Committee, Intermountain Healthcare (Department of Pediatrics representative) 2018 AAP Section on Neurology co-Representative to the AAP Annual Leadership Forum, Chicago, IL Professional Organization & Scientific Activities 2011-2016 Member, Scientific Selection Committee, Child Neurology Society 2012-Present Abstract and Workshop Reviewer, Pediatric Academic Societies 2013-2016 Apparent Life Threatening Event Section, American Association of Pediatrics 2013-2016 Member, Scientific Selection and Program Planning Committee, Child Neurology Society

of 24 Bonkowsky

2014-Present Executive Committee of the Section on Neurology, American Association of Pediatrics 2014-2017 Pediatric Academic Societies, Program Committee, Child Neurology Society representative 2014-Present Executive Board Member, ALD Connect 2015-2016 Trainee Professional Development Award Selection Committee, Society for Neurosciences 2015-Present Board Member, Global Leukodystrophy Alliance (GLIA) 2016-Present Member, Leukodystrophy Care Network 2016-Present Member, Research Oversight Committee, Child Neurology Society 2017-Present Member, Newborn Screening Translational Research Network 2017-Present Member, Medical and Scientific Board, United Leukodystrophy Foundation Grant Review Committee/Study Section October 2010 Michael J. Fox Foundation for Parkinson’s Research October 2012 Molecular, Cellular and Developmental Neurosciences Study Section, NIH November 2012 Neurology & Neurodegeneration Study Section, Medical Research Council (UK) October 2013 Primary Children’s Hospital Foundation Study Section May 2015 University of Utah Internal Grant Review Committee June 2015 Developmental Brain Disorders (DBD) Study Section, NIH February 2016 NIMHS BRAINS Study Section, NIH April 2016 NINDS ZNS1 SRB-N (12) Study Section, NIH December 2016 United Leukodystrophy Foundation Grant Review December 2016 CCTS, Utah, Peer Grant Review Program March 2017 NIH, Special Emphasis Panel/Scientific Review Group ZGM1 TRN-4 (Loan Repayment Program) June 2017 NIH NIDCR SOARS Study Section October 2017 NIH, Special Emphasis Panel/Scientific Review Group ZRG1 BDCN-W March 2018 Kennedy Krieger Institute, External Reviewer, Innovation Grant Program April 2018 European Research Commission, External Reviewer, ERC Starting Grant Program Symposium/Meeting Chair/Coordinator August 26, 2011 Organizer and Chair, Symposium “Western Leukodystrophy Project Meeting”.

Salt Lake City, UT. USA. October 21, 2009 Organizer and Chair, Symposium “Future Directions in Diagnosis and Treatment of

Leukodystrophies”. Child Neurology Society Meeting. Louisville, KY. USA.

PROFESSIONAL COMMUNITY ACTIVITIES UNIVERSITY COMMUNITY ACTIVITIES SERVICE AT AFFILIATED INSTITUTIONS SERVICE AT PREVIOUS INSTITUTIONS CURRENT MEMBERSHIPS IN PROFESSIONAL SOCIETIES 2000-Present Member, American Association of Pediatrics

of 24 Bonkowsky

2003-Present Member, Child Neurology Society 2008-Present Member, Society for Neurosciences 2010-Present Fellow, Society for Pediatric Research FUNDING Active Grants 11/01/2017-10/31/2018 Pediatric Orphan Neurodegenerative Diseases Direct Costs: $3,000 Funding Source: NSF Role: Co-Investigator 10/01/2017-09/30/2018 Precision Genomic Medicine for Childhood Epilepsy Diagnosis and Treatment Direct Costs: $75,000 Funding Source: Margolis Foundation Role: Principal Investigator 09/01/2017-08/31/2018 Characterization, Genetic Analysis, and Outcomes of Pediatric Epilepsy Direct Costs: $17,500 Funding Source: University of Utah Seed Grant Role: Principal Investigator 08/01/2017-07/30/2018 Access Improvement and Management for Epilepsy with Telehealth (AIM-ET) Direct Costs: $10,000 Funding Source: AAP (American Academy of Pediatrics) Role: Co-Investigator 07/01/2017-06/30/2021 R01 Web tools for physician-driven diagnostic interpretation of genomic patient data Direct Costs: $499,506 Funding Source: NIH Role: Co-Investigator 08/01/2017-07/30/2018 Genetic basis of Multiple Sclerosis in a Pediatric Population Direct Costs: $45,000 Funding Source: Sorenson Legacy Foundation Role: Collaborator 9/30/11-06/30/18 U10 The Utah Regional Network for Excellence in Neuroscience Clinical Trials Direct Costs: $1,400,000 Funding Source: NIH Role: co-Principal Investigator

of 24 Bonkowsky

Pending Grants 11/01/18-10/31/23 Optimization, Modeling, and Discovery using Zebrafish for Hypomyelinating Leukodystrophies Direct Costs: $1,250,000 Funding Source: NIH Role: PI 11/01/18-10/31/23 Molecular Mechanisms and Mediators of Hypoxic Injury to the Developing Brain Direct Costs: $1,250,000 Funding Source: NIH Role: PI 11/01/18-10/31/21 Screenable Zebrafish Model for Drug Discovery in Adrenoleukodystrophy Direct Costs: $750,000 Funding Source: NIH Role: PI 11/01/18-10/31/21 Small Vertebrate Therapeutic Discovery for Vanishing White Matter Disease Direct Costs: $750,000 Funding Source: NIH Role: PI 01/01/19-12/31/19 Zebrafish Therapeutics Discovery for Adrenoleukodystrophy Direct Costs: $150,000 Funding Source: Harrington Discovery Institute Role: PI 03/01/19-02/28/24 Abnormal transcripts associated with Vanishing White Matter Disease Direct Costs: $1,250,000 Funding Source: NIH Role: PI 7/01/18-06/30/23 U10 The Utah Regional Network for Excellence in Neuroscience Clinical Trials Direct Costs: $1,400,000 Funding Source: NIH Role: co-PI Past Grants 06/01/16- 02/28/18 R43 (SBIR) Microfluidic devices for early non-destructive zebrafish genotyping

Direct Costs: $159,641 Funding Source: NIH Role: co- Principal Investigator 03/01/16-02/28/18

of 24 Bonkowsky

Screenable Zebrafish Models for Leukodystrophy Therapeutics Direct costs: $104,000 Funding Source: European Leukodystrophy Association Role: Principal Investigator 08/15/15-02/28/18 R21 Mechanisms of Serotonergic Regulation for Connectivity Development Direct costs: $111,500 Funding Source: NIH Role: Principal Investigator 9/31/12-9/30/17 DP2/New Innovator Trans-cellular Activation of Transcription to Analyze Dopaminergic Axon Reorganization

Direct Costs: $1,500,000 Funding Source: NIH Role: Principal Investigator 06/01/13-05/31/16 Characterization of Genetic Pathways Regulating Connectivity Disruption in Hypoxic Injury Direct Costs: $288,276 Funding Source: March of Dimes Foundation Role: Principal Investigator 01/01/14-12/31/14 In Vivo Myelin Drug Discovery Screen for Vanishing White Matter Disease

Direct costs: $33,000 Funding Source: University of Utah Research Seed Grant Role: Principal Investigator

01/01/14-06/30/15 ALD Connect Direct Costs: $490,000 Funding Source: PCORI Role: Consultant 7/1/10-6/30/15 R01 Genetic and imaging tools to visualize neuronal subsets in developing zebrafish Direct Costs: $1,125,000 Funding Source: NIH Role: Collaborator 4/1/08-3/31/13 K08 DA024753 Characterization and Genetic Analysis of Basal Ganglia Axon Pathfinding.

Direct Costs: $862,000. Funding Source: NIH/NIDA. Role: Principal Investigator

04/01/11-03/31/12 Novel paradigms for understanding inherited leukodystrophies Direct Costs: $40,000 Funding Source: PCMC Foundation Role: Principal Investigator 10/1/10-12/30/11 Development of a Novel Zebrafish Model to Investigate the Role of

Glucocerebrosidase in Parkinson’s Disease Direct Costs: $43,149 Funding Source: Michael J. Fox Foundation Role: Principal Investigator 01/01/10-12/31/10 Development of a Method for Trans-Cellular Activation of Transcription in

Vertebrates Direct costs: $25,000 Funding Source: University of Utah Research Seed Grant

Role: Principal Investigator 01/01/05-06/30/10 Characterization of the role of foxP2 in zebrafish CNS development

Direct costs: $25,000 Funding Source: CHRC Foundation Grant

of 24 Bonkowsky

Role: Principal Investigator 8/1/06-3/31/08 K12 Children’s Health Research Career Development Award, University of Utah Direct Costs: $80,000 Funding Source: NIH

Role: Trainee

1/01/05-12/30/05 Children’s Health Research Center Grant, University of Utah. Characterization of the role of foxP2 in zebrafish CNS development. Direct Costs: $3,000. Funding Source: CHRC Role: Principal Investigator

10/01/01-6/30/05 Primary Children’s Medical Center Foundation Grant. Identification, neurological

characterization, and loci mapping of children with language disorders. Direct Costs: $50,000. Funding Source: PCMC Foundation Role: Principal Investigator

Active Contracts Pending Contracts Past Contracts 11/01/16-07/01/17 Minoryx Pharmaceuticals (Barcelona, Spain) Characterization of the effects of MIN-102 on a zebrafish model of adrenoleukodystrophy. $34,500 08/15/16-04/30/17 Bluebird Bio, Inc. (Cambridge, MA, USA) Natural history of childhood cerebral adrenoleukodystrophy. $40,336 02/01/013-12/31/15 University of Pittsburgh (Pittsburgh, PA, USA) Functional characterization of novel human NAV1 disease-associated genetic variants. $21,500 TEACHING RESPONSIBILITIES/ASSIGNMENTS Education Administration 2006-2007 Pediatric Neurology Lecture Series Director. 2009-2016 Director Pediatric Neurology Morbidity and Mortality Conferences. 2014-2017 Pediatric Neurology Lecture Series Steering Committee. Course and Curriculum Development Courses Directed Course Lectures 2006. Stroke. College of Nursing. Nurse practicioners. 80 students. 2008-present. Neurosciences 6060. Graduate Neuroanatomy. 2 lectures. 2009. Neurosciences 6010. Frontiers in Neurosciences. 1 lecture.

of 24 Bonkowsky

2010-present. Neurosciences 7750. Developmental Neurobiology. 2 lectures. 2012. Medicine for the Molecular Biologist. 2 lectures. 2015. Personalized Medicine. 1 lecture January 2015; 2016. Medical School Neuroanatomy. 2 lectures. Small Group Teaching 2006. Neuro 7020. Neurology Organ System. Cases 2-6. Department of Neurology, School of Medicine.

Medical students. 100 students. Mentoring- Scientific Wendy Osterling resident (MD) 6/2007-6/2010 Project: Characterization of outcomes in children with neurological impairment. David Burrow medical student 6/2008-9/2008 Project: Analysis of foxP2 mutant phenotype. Maddi Filloux undergraduate 6/2008-9/2008 Project: Role of Robo2 on basal ganglia pathfinding Annie Powers resident (MD/PhD) 10/2008-12/2009 Project: Child abuse in children with an apparent life-threatening event Clint Nelson fellow (MD) 6/2008-6/2014 Project: Characterization of inherited leukodystrophies and their clinical outcomes. Kathryn Pavia undergraduate 6/2009-9/2009 Project: Effects of developmental hypoxia on CNS axon pathfinding. Cory Kogelschatz medical student 6/2009-9/2009 Project: Characterization of developmental hypoxia on development of the basal ganglia. Joe Kingston medical student 5/2009-8/2009 Project: Characterization of inherited leukodystrophies. Gabrielle Zimbric pediatrics resident 6/2009-03/2012 Project: Characterization of gastrointestinal outcomes following an ALTE. Beth Turney medical student 11/2009-5/2010 Project: Neurological complications of novel H1N1 influenza Julia Rawlings medical student 11/2009-5/2010 Project: Neurological complications of novel H1N1 influenza Tony Trinh medical student 1/2010-9/2010 Project: Effects of hypoxia on axon pathfinding Younghwan Kim graduate student 1/2010-3/2010 Rotation project: Effects of ablation of dopaminergic neurons on motor behavior Robert Hoki pediatric cardiology fellow 6/2009-6/2011

of 24 Bonkowsky

Project: Characterization of cardiac outcomes following an ALTE. Lingyan Xing graduate student 6/2010-9/2015 Project: Analysis of disease mechanisms in CNS development Eric Hu medical student 5/2011-9/2011 Project: Role of GBA in pathology of Parkinson’s disease Elizabeth Doll pediatrics resident 1/2012-2/2016 Project: Neonatal outcomes and magnesium levels in premature infants Cameron Brimley medical student 9/2011-9/2013 Project: Costs and national burden of inherited leukodystrophies Betsy Ostrander child neurology resident 03/2012-4/2016 Project: Neurological effects of prematurity Regan Stephenson high school student 1/2012-5/2014 Project: Microfluidic devices for zebrafish Tyler Quist undergraduate 06/2012-9/2013 Project: Development of a genetic reporter for zebrafish myelin Shawn Purnell medical student 01/2013-9/2013 Project: Zebrafish model of vanishing white matter disease Danner Peter undergraduate 6/2013-9/2013 Project: Zebrafish model of adrenoleukodystrophy Raheel Samuel graduate student 8/2013-1/2015 Project: Microfluidic genotyping of zebrafish embryos Tiffanie Dahl graduate student 6/2013-8/2015 Project: Synaptic development following hypoxic injury Jong-Hyun Son post-doctoral fellow 9/2013-6/2017 Project: Development of novel tools to label synapses Manijeh Kamyar maternal-fetal medicine fellow 6/2013-1/2014 Project: Role of IL-6 on CNS development Dolan Pritchett undergraduate 9/2013-12/2015 Project: Development of an axon connection marker Meliss Gulbransen undergraduate 9/2013-6/2015 Project: Creation of a genetic activity inhibitor Jingxia Gao post-doctoral fellow 11/2013-3/2017 Project: Trans-cellular activation of transcription Lindsi Roundy medical student 5/2013-9/2015

of 24 Bonkowsky

Project: Effectiveness of a seizure action plan Jackson Richards medical student 11/2013-6/2015 Project: Small compound testing in zebrafish ALD Hannah Gordon graduate student 6/2014-6/2015 Project: Leukodystrophies in humans and Drosophila Matthew Keefe post-doctoral fellow 8/2014-present Project: Connectivity mapping in the vertebrate CNS Gary Nelson pediatric neurology fellow 12/2014-4/2015 Project: Acute flaccid myelitis. Holly Anderson medical student 1/2014-12/2014 Project: Infections in leukodystrophy patients. Meghan Candee assistant professor 6/2014-12/2017 Project: Pediatric Multiple Sclerosis Melissa Wright medical student 6/2014-9/2016 Project: Costs of pediatric multiple sclerosis Scott Treiman undergraduate (Kenyon College) 5/2015-8/2015 Project: Behavior in an abcd1 mutant Michael Sam undergraduate (U New Mexico) 5/2015-8/2015 Project: Zebrafish model of EIF2B5-related leukodystrophies Miranda Bowles undergraduate 7/2015-present Project: CRISPR Homology Knock-in Steven Merrill medical student 6/2016-12/2016 Project: Canavan Disease. Chris Lambert graduate student 6/2016-present Project: Microfluidic zebrafish genotyping Hailee Soderholm undergraduate 7/2016-present Project: Zebrafish vanishing white matter disease Briana Freshner masters student 7/2016-present Project: New drug discovery for leukodystrophies Celestine Gregerson medical student 10/2016-present Project: Genetics of Epilepsy Outcomes Tina Tranh undergraduate 12/2016-8/2017 Project: Drug screening for ALD Chris Espinoza pediatric neurology fellow 09/2016-present

of 24 Bonkowsky

Project: Botulism outcomes in Utah Samira Rosenthal undergraduate 06/2017-9/2017 Project: Chemogenetic screen in zebrafish Katy Glaittli undergraduate 09/2017-present Project: ALD Drug Screening Veronica Urbik medical student 12/2017-present Project: PheWAS of leukodystrophies Mentoring- Career Development Michelle Schober associate professor 9/2013-6/2017 Project: Inflammation and Traumatic Brain Injury Camille Fung associate professor 9/2013-6/2017 Project: Hippocampal neurogenesis and effects of IUGR Russell Butterfield assistant professor 6/2012-6/2017 Project: Collagen VI Myopathies Brandon Zielinski assistant professor 6/2013-6/2017 Project: MRI Connectivity in Autism Karen Chen assistant professor 6/2013-6/2017 Project: Role of NF-κB in Immunodeficiencies Erin Zinkhan assistant professor 6/2014-9/2015 Project: Lipid disorders and IUGR Gary Nelson assistant professor 6/2015-10/2016 Project: Acute Flaccid Myelitis Graduate Student Thesis Committees Caitlin Mencio, Neurosciences Graduate Program 05/2010-6/2014 Lisa Briona, Molecular Biology Graduate Program 05/2011-8/2014 Hannah Gordon, Molecular Biology Graduate Program 06/2011-12/2015

of 24 Bonkowsky

Lingyan Xing, Neurosciences Graduate Program 6/2010-7/2015 Amy Hanson, Scholarly Oversight Committee, Pediatric Emergency Medicine 12/2012-6/2014 Thao Nguyen, Bioengineering Graduate Program 2/2012-10/2013 Vimal Swarup, Bioengineering Graduate Program 3/2012-1/2014 Sasha Luks-Morgan, Neurosciences Graduate Program 9/2014-present Brent Young, Neurosciences Graduate Program 11/2014-present Satish Ghimere, Molecular Biology Graduate Program 5/2015-present Tejia Zhang, T32 Advisory Committee 2/2018-present PEER-REVIEWED JOURNAL ARTICLES (full list of 79 peer-reviewed publications at http://www.ncbi.nlm.nih.gov/sites/myncbi/josh.bonkowsky.1/bibliograpahy/47650777/public/?sort=date&direction=ascending) Gao J*, Stevenson TJ, Barrios JP, Douglass AD, Bonkowsky, JL. The Midline Axon Crossing Decision is Regulated Through An Activity-Dependent Mechanism by the NMDA Receptor. eNeuro. In press. Lambert CJ*, Freshner BC*, Chung A, Stevenson TJ, Bowles DM*, Samuel R, Gale BK, Bonkowsky JL. An automated system for rapid cellular extraction from live zebrafish embryos and larvae: Development and application to genotyping. PLoS One. 2018 Mar 15;13(3):e0193180. Strachan L*, Stevenson TJ, Freshner B*, Keefe M*, Bowles M*, Bonkowsky JL. A zebrafish model of X-linked adrenoleukodystrophy recapitulates key disease features and demonstrates a developmental requirement for abcd1 in oligodendrocyte patterning and myelination. 2017. Human Molecular Genetics. 2017 Sep15;26(18):3600-3614. Adang LA, Sherbini O, Ball L, Bloom M, Darbari A, Amartino H, DiVito D, Eichler F, Escolar M, Evans SH, Fatemi A, Fraser J, Hollowell L, Jaffe N, Joseph C, Karpinski M, Keller S, Maddock R, Mancilla E, McClary B, Mertz J, Morgart K, Langan T, Leventer R, Parikh S, Pizzino A, Prange E, Renaud DL, Rizzo W, Shapiro J, Suhr D, Suhr T, Tonduti D, Waggoner J, Waldman A, Wolf NI, Zerem A, Bonkowsky JL, Bernard G, van Haren K, Vanderver A; Global Leukodystrophy Initiative (GLIA) Consortium. Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies. Mol Genet Metab. 2017 Aug 20. In press. Wright MA*, Korgenski EK*, Bardsley T, Bonkowsky JL, Candee MS*. Comprehensive population-based determination of pediatric multiple sclerosis health care costs. Neurol Neuroimmunol Neuroinflamm. 2016 Dec 19;4(1):e314.

of 24 Bonkowsky

Merrill ST*, Nelson GR*, Longo N, Bonkowsky JL. Cytotoxic edema and diffusion restriction as an early pathoradiologic marker in canavan disease: case report and review of the literature. Orphanet J Rare Dis. 2016 Dec 7;11(1):169. Keefe MD*, Bonkowsky JL. Transvection Arising from Transgene Interactions in Zebrafish. Zebrafish. 2016 Oct 25. [Epub ahead of print] PubMed PMID: 27779464. Kang PB, Bale JF Jr, Mintz M, Joshi SM, Gilbert DL, Radabaugh C, Ruch-Ross H; Section on Neurology Executive Committee of the American Academy of Pediatrics, and the Board of Directors of the Child Neurology Society. The child neurology clinical workforce in 2015: Report of the AAP/CNS Joint Taskforce. Neurology. 2016 Aug 26. pii: 10.1212/WNL.0000000000003147. [Epub ahead of print] Chen YC, Semenova S, Rozov S, Sundvik M, Bonkowsky JL, Panula P. A novel developmental role for dopaminergic signaling to specify hypothalamic neurotransmitter identity. J Biol Chem. 2016 Aug 18. pii: jbc.M115.697466. [Epub ahead of print] Dukes AA, Bai Q, Van Laar VS, Zhou Y, Ilin V, David CN, Agim ZS, Bonkowsky JL, Cannon JR, Watkins SC, Croix CM, Burton EA, Berman SB. Live imaging of mitochondrial dynamics in CNS dopaminergic neurons in vivo demonstrates early reversal of mitochondrial transport following MPP(+) exposure. Neurobiology of Disease. 2016 Jul 21. Tieder JS, Bonkowsky JL, Etzel RA, Franklin WH, Gremse DA, Herman B, Katz ES, Krilov LR, Merritt JL 2nd, Norlin C, Percelay J, Sapién RE, Shiffman RN, Smith MB; SUBCOMMITTEE ON APPARENT LIFE THREATENING EVENTS. Brief Resolved Unexplained Events (Formerly Apparent Life-Threatening Events) and Evaluation of Lower-Risk Infants: Executive Summary. Pediatrics. 2016 May;137(5). Brief Resolved Unexplained Events (Formerly Apparent Life-Threatening Events) and Evaluation of Lower-Risk Infants: Executive Summary. Joel S. Tieder, Bonkowsky JL, Ruth A. Etzel, Wayne H. Franklin, David A. Gremse, Bruce Herman, Eliot S. Katz, Leonard R. Krilov, J. Lawrence Merritt, Chuck Norlin, Jack Percelay, Robert E. Sapién, Richard N. Shiffman, Michael B.H. Smith, SUBCOMMITTEE ON APPARENT LIFE THREATENING EVENTS. Pediatrics Apr 2016, DOI: 10.1542/peds.2016-0591 Eisenhoffer GT, Slattum G, Ruiz OE, Otsuna H, Bryan CD, Lopez J, Wagner DS, Bonkowsky JL, Chien CB, Dorsky RI, Rosenblatt J. A toolbox to study epidermal cell types in zebrafish. J Cell Sci. 2016 May 5. Milash B, Gao J*, Stevenson TJ, Son JH*, Dahl T*, Bonkowsky JL. Temporal Dysynchrony in brain connectivity gene expression following hypoxia. BMC Genomics. 2016 May 4;17(1):334. Helman G, Bonkowsky JL, Vanderver A. Neurologist Comfort in the Use of Next-Generation Sequencing Diagnostics: Current State and Future Prospects. JAMA Neurol. 2016 Apr 4. Ostrander B*, Bardsley T, Korgenski EK, Greene T, Bonkowsky JL. Neonatal Magnesium Levels Between 24 and 48 Hours of Life and Outcomes for Epilepsy and Motor Impairment in Premature Infants. Pediatr Neurol. 2016 Mar 3. pii: S0887-8994(15)30232-0. Sivachenko A, Gordon HB*, Kimball SS, Gavin EJ, Bonkowsky JL, Letsou A. Neurodegeneration in a Drosophila model of Adrenoleukodystrophy: the roles of the bubblegum and double bubble acyl-CoA synthetases. Disease Models and Mechanisms. 2016 Feb 18. pii: dmm.022244. [Epub ahead of print] Bonkowsky JL. Shedding light on the leukodystrophies. Developmental Medicine and Child Neurology. 2016 Feb 15. doi: 10.1111/dmcn.13019. [Epub ahead of print]

of 24 Bonkowsky

McPherson AD, Barrios JP, Luks-Morgan SJ*, Manfredi JP, Bonkowsky JL, Douglass AD, Dorsky RI. Motor Behavior Mediated by Continuously Generated Dopaminergic Neurons in the Zebrafish Hypothalamus Recovers after Cell Ablation. Current Biology. 2016 Jan 25;26(2):263-9. Son JH*, Keefe MD*, Stevenson TJ, Barrios JP, Anjewierden S, Newton JB, Douglass AD, Bonkowsky JL. Transgenic FingRs for Live Mapping of Synaptic Dynamics in Genetically-Defined Neurons. Scientific Reports (Nature). 2016 Jan 5;6:18734. Nelson GR*, Bonkowsky JL, Doll E*, Green M, Hedlund GL, Moore KR, Bale JF Jr. Recognition and Management of Acute Flaccid Myelitis in Children. Pediatric Neurology. 2016 Feb;55:17-21. Duncan RN, Xie Y, McPherson AD, Taibi AV, Bonkowsky JL, Douglass AD, Dorsky RI. Hypothalamic radial glia function as self-renewing neural progenitors in the absence of Wnt/β-catenin signaling. Development. 2016 Jan 1;143(1):45-53. Xing L*, Son JH*, Stevenson TJ, Lillesaar C, Bally-Cuif L, Dahl T*, Bonkowsky JL. A Serotonin Circuit Acts as an Environmental Sensor to Mediate Midline Axon Crossing through EphrinB2. Journal of Neuroscience. 2015 Nov 4;35(44):14794-808. Richards J*, Korgenski EK, Srivastava R, Bonkowsky JL. Costs of the diagnostic odyssey in children with inherited leukodystrophies. Neurology. 2015 Sep 29;85(13):1167-70. Roundy LM*, Filloux FM, Kerr L, Rimer A, Bonkowsky JL. Seizure Action Plans Do Not Reduce Health Care Utilization in Pediatric Epilepsy Patients. Journal of Child Neurology. 2015 Aug 5. pii: 0883073815597755. [Epub ahead of print] PubMed PMID: 26245799. Richards J*, Korgenski EK, Taft RJ, Vanderver A, Bonkowsky JL. Targeted leukodystrophy diagnosis based on charges and yields for testing. American Journal of Medical Genetics. 2015 Jul 16. doi: 10.1002/ajmg.a.37215. [Epub ahead of print] PubMed PMID: 26183797. Samuel R*, Stephenson R*, Roy P, Pryor R, Zhou L, Bonkowsky JL*, Gale BK*. Microfluidic-aided genotyping of zebrafish in the first 48 h with 100% viability. Biomedical Microdevices. 2015 [in press] Helman G, Van Haren K, Bonkowsky JL, Bernard G, Pizzino A, Braverman N, Suhr D, Patterson MC, Ali Fatemi S, Leonard J, van der Knaap MS, Back SA, Damiani S, Goldman SA, Takanohashi A, Petryniak M, Rowitch D, Messing A, Wrabetz L, Schiffmann R, Eichler F, Escolar ML, Vanderver A; on behalf of the GLIA Consortium. Disease specific therapies in leukodystrophies and leukoencephalopathies. Mol Genet Metab. 2015 Feb 7. pii: S1096-7192(15)00036-0. doi: 10.1016/j.ymgme.2015.01.014. [Epub ahead of print] Van Haren K, Bonkowsky JL, Bernard G, Murphy JL, Pizzino A, Helman G, Suhr D, Waggoner J, Hobson D, Vanderver A, Patterson MC; on behalf of the GLIA Consortium. Consensus statement on preventive and symptomatic care of leukodystrophy patients. Mol Genet Metab. 2014 Dec 27. pii: S1096-7192(14)00826-9. doi: 10.1016/j.ymgme.2014.12.433. [Epub ahead of print] Doll E*, Wilkes J, Cook LJ, Korgenski EK, Faix RG, Yoder BA, Srivastava R, Sherwin CM, Spigarelli MG, Clark EA, Bonkowsky JL. Neonatal magnesium levels correlate with motor outcomes in premature infants: a long-term retrospective cohort study. Front Pediatr. 2014 Nov 5;2:120

of 24 Bonkowsky

Anderson HM*, Wilkes J, Korgenski EK, Pulsipher MA, Blaschke AJ, Hersh AL, Srivastava R, Bonkowsky JL. Preventable Infections in Children with Leukodystrophy. Annals of Clinical and Translational Neurology. 2014 May 1;1(5):370-374. Purnell SM*, Bleyl SB, Bonkowsky JL. Clinical exome sequencing identifies a novel TUBB4A mutation in a child with static hypomyelinating leukodystrophy. Pediatric Neurology. 2014 Jun;50(6):608-11. Butterfield RJ, Stevenson TJ, Xing L*, Newcomb TM, Nelson B, Zeng W, Li X, Lu HM, Lu H, Farwell Gonzalez KD, Wei JP, Chao EC, Prior TW, Snyder PJ, Bonkowsky JL, Swoboda KJ. Congenital Lethal Motor Neuron Disease with a Novel Defect in Ribosome Biogenesis. Neurology. 2014 Apr 15;82(15):1322-30. Campbell SC, Stockmann C, Balch A, Clark EA, Kamyar M*, Varner M, Korgenski EK, Bonkowsky JL, Spigarelli MG, Sherwin CM. Intrapartum magnesium sulfate and the potential for cardiopulmonary drug-drug interactions. Ther Drug Monit. 2014 Aug;36(4):544-8. Xing, L*, Quist, T*, Stevenson, T., Dahlem T, Bonkowsky JL. Rapid and Efficient Zebrafish Genotyping Using PCR with High-resolution Melt Analysis. J. Vis. Exp. 2014 Feb 5;(84):e51138. Sherwin CM, Balch A, Campbell SC, Fredrickson J, Clark EA, Varner M, Stockmann C, Korgenski EK, Bonkowsky JL, Spigarelli MG. Maternal Magnesium Sulfate Exposure Predicts Neonatal Magnesium Blood Concentrations. Basic Clin Pharmacol Toxicol. 2014 Apr;114(4):318-22. Brimley CJ*, Lopez J, van Haren K, Wilkes J, Sheng X, Nelson C*, Korgenski EK, Srivastava R, Bonkowsky JL. National Variation in Costs and Mortality for Leukodystrophy Patients in US Children's Hospitals. Pediatr Neurol. 2013 Sep;49(3):156-162. Iwasaki K, Taguchi M, Bonkowsky JL, Kuwada JY. Expression of arginine vasotocin receptors in the developing zebrafish CNS. Gene Expr Patterns. 2013 Jul 2;13(8):335-342. Tieder JS, Altman RL, Bonkowsky JL, Brand DA, Claudius I, Cunningham DJ, Dewolfe C, Percelay JM, Pitetti RD, Smith MB. Management of Apparent Life-Threatening Events in Infants: A Systematic Review. Journal of Pediatrics. 2013 Feb 14. doi:pii: S0022-3476(12)01575-2. Schweitzer J, Löhr H, Bonkowsky JL, Hübscher K, Driever W. Sim1a and Arnt2 contribute to hypothalamo-spinal axon guidance by regulating Robo2 activity via a Robo3-dependent mechanism. Development. 2013 Jan;140(1):93-106. Nelson C*, Mundorff MB, Korgenski EK, Brimley CJ*, Srivastava R, and Bonkowsky JL. Determinants of health care utilization in pediatric leukodystrophy patients. Journal of Pediatrics. 2012. Mar;162(3):624-628.e1. Hoki R*, Bonkowsky JL, Minich LL, Srivastava R, Pinto NM. Cardiac testing and outcomes in infants after an apparent life-threatening event. Arch Dis Child. 2012 Dec;97(12):1034-8. Xing L*, Hoshijima K, Grunwald DJ, Fujimoto E, Quist TS*, Sneddon J*, Chien CB, Stevenson TJ, Bonkowsky JL. Zebrafish foxP2 zinc finger nuclease mutant has normal axon pathfinding. PLoS One. 2012. 7(8):e43968.

of 24 Bonkowsky

Lambert AM, Bonkowsky JL, and Masino MA. The dopaminergic diencephalospinal tract mediates a developmental switch in the locomotor pattern of larval zebrafish. Journal of Neuroscience. 2012. 32: 13488-13500 Zimbric G*, Bonkowsky JL, Jackson WD, Maloney CJ, Srivastava R. Adverse outcomes associated with gastroesophageal reflux disease are rare following an apparent life-threatening event. Journal of Hospital Medicine. 2012. 7(6):476-81. Stevenson TJ, Trinh T*, Kogelschatz C*, Fujimoto E, Lush ME, Piotrowski T, Brimley CJ*, Bonkowsky JL. Hypoxia disruption of vertebrate CNS pathfinding through EphrinB2 is rescued by magnesium. PLoS Genetics. 2012 Apr;8(4):e1002638. PMID: 22511881 Lakhina V, Maraccio C, Shao X, Lush M, Jain R, Fujimoto E, Bonkowsky J, Granato M, Raper J. Netrin/DCC signaling guides olfactory sensory axons to their correct location in the olfactory bulb. Journal of Neuroscience. 2012 Mar 28;32(13):4440-56. PMID: 22457493 Amir-Zilberstein L, Blechman J, Sztainberg Y, Norton WJH, Reuveny A, Borodovsky N, Tahor M, Bonkowsky JL, Bally-Cuif L, Chen A, Levkowitz G. Homeodomain protein Otp and activity-dependent splicing modulate neuronal adaptation to stress. Neuron. 2012. 26;73(2):279-91. Berry JG, Poduri A, Bonkowsky JL, Zhou J, Graham DA, Welch C, Putney H, Srivastava R. The Impact of Children with Neurological Impairment on the U.S. Inpatient Healthcare System: A Cohort Study. PLoS Medicine. 2012. 9(1):e1001158. Gutnick, A, Blechman J, Kaslin J, Affolter M, Bonkowky JL, Levkowitz G. The hypothalamic neuropeptide oxytocin is required for formation of the neuro-vascular interface of the pituitary. Developmental Cell. 2011. 18:642-54. Fujimoto E, Gaynes B, Brimley CJ*, Chien CB, Bonkowsky JL. Gal80 Intersectional Regulation of Cell-Type Specific Expression in Vertebrates. Developmental Dynamics. 2011 Oct;240(10):2324-34. Willis MW*, Bonkowsky JL, Srivastava R, Grimmer JF. Usefulness of airway evaluation in infants initially seen with an apparent life-threatening event. Archives Otolaryngology Head & Neck Surgery. 2011. 137(4):359-62. Fujimoto E, Stevenson TJ, Chien CB, Bonkowsky JL. Identification of a dopaminergic enhancer indicates complexity in vertebrate dopamine neuron phenotype specification. Developmental Biology. 2011. 352(2):393-404. Guenther E, Powers A*, Srivastava R, Bonkowsky JL. Abusive head trauma in children presenting with an apparent life-threatening event. Journal of Pediatrics. 2010. 157(5):821-5. Ekstrand JJ, Herbener A, Rawlings J*, Turney B*, Ampofo K, Korgenski EK, Bonkowsky JL. Heightened neurologic complications in children with pandemic H1N1 influenza. Annals of Neurology. 2010. 68(5):762-6. Bonkowsky JL, Nelson C*, Kingston JL*, Filloux FM, Mundorff MB, Srivastava R. The burden of inherited leukodystrophies in children. Neurology. 2010. 75(8):718-25. Bonkowsky JL, Guenther E, Srivastava R, Filloux FM. Seizures in children following an apparent life-threatening event. Journal of Child Neurology. 2009. 24(6):709-13.

http://www.ncbi.nlm.nih.gov/pubmed/20955853




of 24 Bonkowsky

Kastenhuber, E., Kern, U., Bonkowsky, J.L., Chien, C.-B., Driever, W., and Schweitzer, J. Netrin-DCC, Robo-Slit and HSPGs coordinate lateral positioning of longitudinal dopaminergic diencephalospinal axons. Journal of Neuroscience. 2009. 29:8914-26. Bonkowsky, J.L., Wang, X., Fujimoto, E., Lee, E.J., Chien, C.-B., and Dorsky, R.I. Domain-specific regulation of foxP2 CNS expression by lef1. BMC Developmental Biology. 2008. 8:103. Bonkowsky, J.L., Guenther E, Filloux, FM, and Srivastava, R. Death, child abuse, and adverse neurological outcomes following an apparent life-threatening event. Pediatrics. 2008. 122:125-31. Bonkowsky, J.L., and Chien, C.-B. Isolation and cloning of zebrafish foxP2. Developmental Dynamics. 2005. 234:740-6. Bonkowsky JL, and Filloux, F.M. Extrapontine myelinolysis in a pediatric case of diabetic ketoacidosis and cerebral edema. Journal of Child Neurology, 2003. 18: 144-7. Bonkowsky, J.L., Frazer, J.K., Buchi, K.F., and Byington, C.L. Metamizole use by Latino immigrants: a common and potentially harmful home remedy. Pediatrics, 2002. 109: e98. Bonkowsky JL, Christenson, J.C., Nixon, G.W., and Pavia, A.T. Cerebral aneurysms in a child with acquired immune deficiency syndrome during rapid immune reconstitution. Journal of Child Neurology, 2002. 17: 457-60. Duke, T., Blaschke, A.J., Sialis, S., and Bonkowsky, J.L. Hypoxaemia in acute respiratory and non-respiratory illnesses in neonates and children in a developing country. Archives of Disease in Childhood, 2002. 86: 108-12. Yoshikawa*, S., Bonkowsky*, J.L., Kokel, M., Shyn, S., and Thomas, J.B. The Derailed guidance receptor does not require kinase activity in vivo. Journal of Neuroscience, 2001. 21: RC119. Bonkowsky*, J.L, Yoshikawa*, S., O’Keefe, D.D., Scully, A.L., and Thomas, J.B. Axon routing across the midline controlled by the Drosophila Derailed receptor. Nature, 1999. 402: 540-4. Bonkowsky, J.L., and Thomas, J.B. Cell-type specific modular regulation of derailed in the Drosophila nervous system. Mechanisms of Development, 1998. 82: 181-4. Oates, A.C., Bonkowsky, J.L., Irvine, D.V., Kelly, L.E., Thomas, J.B., and Wilks, A.F. Embryonic expression and activity of doughnut, a second RYK homolog in Drosophila. Mechanisms of Development, 1998. 78: 165-9. Callahan, C.A., Bonkovsky, J.L., Scully, A.L., and Thomas, J.B. Derailed is required for muscle attachment site selection in Drosophila. Development, 1996. 122: 2761-67. Moll, T., Dirick, L., Auer, H., Bonkovsky, J., and Nasmyth, K. SWI6 is a regulatory subunit of two different cell-cycle START-dependent transcription factors in S. cerevisiae. Journal of Cell Science, 1992. 16: 87-96. REVIEW ARTICLES Gordon HB, Letsou A, Bonkowsky JL. The leukodystrophies. Semin Neurol. 2014 Jul;34(3):312-20.

of 24 Bonkowsky

BOOKS Bale JF, Bonkowsky JL, Filloux FM, Hedlund GL, Nielsen DM, and Larsen PD. Pediatric Neurology: A Colour Handbook. 2011. Manson Publishing Ltd. BOOK CHAPTERS Bonkowsky, J.L.,Nance, M.A., Hauser, W.A., Anderson, V.E. (2008). Chapter 17: Genetic diseases associated with epilepsy. In Epilepsy: A Comprehensive Textbook. Lippincott Williams&Wilkins, 2nd Edition; Philadelphia, USA. OTHER (Commentary/Letters/Editorials/Case Reports/Video/Film) Bonkowsky, J.L. Leukodystrophies. Epilepsy and Behavior. 2011. Bonkowsky, J.L., Ramaekers, V.T., Quadros, E.V., and Lloyd, M. Progressive Encephalopathy in a Child with Cerebral Folate Deficiency Syndrome. Journal of Child Neurology. 2008. 23:1460-3. Bonkowsky, J.L., Filloux, F.M., and Warner, J.E. Splenial Corpus Callosum Lesion and Hemifield Visual Color Anomia Associated With Intracranial Hypertension. Journal of Child Neurology. 2007. 22:1132-4. Bonkowsky, J., and Pavia, A. Cerebral vasculopathy with aneurysm formation in HIV-infected young adults. Neurology. 2007. 68: 623. Bonkowsky, J.L., Sondrup, C*, and Benedict, S. Acute reversible cerebellar ataxia associated with metronidazole use. Neurology. 2007. 68: 180. Bonkowsky, J.L., Filloux, FM., and Byington, C.L. Herpes simplex virus CNS relapse during treatment of infantile spasms with ACTH. Pediatrics. 2006. 117:e1045-8. Bonkowsky, J.L., Sarco, D., and Pomeroy, S.L. Ataxia and Shaking in a 2-year-old: acute marijuana intoxication presenting as a seizure. Pediatric Emergency Care. 2005. 21:527-8. Benedict, S.L., Bonkowsky, J.L., Thompson, J.A., Van Orman, C.B., Boyer, R.S., Bale, J.F., Jr., and Filloux, F.M. Cerebral sinovenous thrombosis in children: another reason to treat iron deficiency anemia. Journal of Child Neurology. 2004. 19:526-31. Bonkowsky, J.L., Bohnsack, J.F., Pennington, M.J., Viskochil, D., and Thompson, J.A. Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinemia (LACH) in two brothers: a novel syndrome? American Journal of Medical Genetics. 2004. 128:52-6. Bonkowsky, J.L., Johnson, J., Carey, J., Smith, A.D., and Swoboda, K. An infant with primary tooth loss and palmar hyperkeratosis: a novel mutation in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis. Pediatrics. 2003. 112:e237-41. PENDING PUBLICATIONS Bonkowsky, J.L., Wilkes, J., Shyr, D. Scope and Burden of Non-Standard of Care Hematopoietic Stem Cell Transplantation in Pediatric Leukodystrophy Patients. Under review.

of 24 Bonkowsky

Ostrander, B.E.P., Butterfield, R.J., Pedersen, B.S., Farrell, A., Layer, R.M., Ward, A., Miller, C., DiSera, T., Filloux, F.M., Candee, M.S., Newcomb, T., Bonkowsky, J.L.*, Marth, G.T.,* Quinlan, A.R.* Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathy. Under review. Bakian, A.V., Bilder, D.A., Korgenski, E.K., Bonkowsky, J.L. Autism Spectrum Disorder and Neonatal Serum Magnesium Levels in Preterm Infants. Under review. Gregerson, C.Y., Wilkes, J., M., Filloux, F.M., Bonkowsky, J.L. Pediatric Epilepsy Patient Outcomes are Adversely Impacted by Socioeconomic Status. Under review. UNPUBLISHED POSTER PRESENTATIONS G Helman, RJ Taft, JL Bonkowsky, F Eichler, A Pizzino, A Vanderver. Pediatric Neurologist Use of Next-Generation Sequencing Diagnostics: Current State and Future Prospects. October 2015. 44th Annual Meeting of the Child Neurology Society, Washington, DC Xing, L., Fujimoto, E., Hoshijima, K., Grunwald, D., and Bonkowsky, J.L. foxP2 controls development of CNS connectivity. November 2011. Society for Neurosciences Meeting. Lambert, A.M., Bonkowsky, J.L., and Masino, M. The Dopaminergic Diencephalospinal Tract Mediates the Developmental Switch In The Locomotor Pattern Of Larval Zebrafish. November 2011. Society for Neurosciences Meeting. Bonkowsky, J.L., Fujimoto, E., Stevenson, T.J., and Chien, C.-B. Identification of a dopaminergic enhancer reveals complex logic for vertebrate dopamine neuron phenotype specification. February 2011. 4th Strategic Conference of Zebrafish Investigators. Poster #144. Nelson, C., Nelson, J., Mundorff, M., Filloux, F.M., Srivastava, R., and Bonkowsky, J.L. Inherited leukodystrophies: outcomes and establishment of a centralized database. October 2009. Child Neurology Society Meeting. Poster #30. Guenther, E., Powers, A., Srivastava, R., and Bonkowsky, J.L. Characteristics of children presenting with apparent life threatening events found to have physical abuse. May 2009. Pediatric Academic Societies. Poster #2808.481. Pitetti, R.D., Brand, D., Altman, R., Claudius, I., Tieder, J.S., Percelay, J.M., DeWolfe, C., and Bonkowsky, J. Do all children who have experienced an apparent life-threatening event need to be admitted? May 2009. Pediatric Academic Societies, Poster #2808.75. Bonkowsky, J.L., and Fujimoto, E. Development of a zebrafish cerebral palsy model. 3rd Strategic Conference of Zebrafish Investigators, January 2009. Poster. Bonkowsky, J.L., Wang, X., Fujimoto, E., Lee, E.J., Chien, C.-B., and Dorsky, R.I. foxP2 CNS expression is regulated by lef1. American Neurological Association Meeting, October 2008. Poster #T9. Bonkowsky, J.L., Fujimoto, E., and Chien, C.-B. Identification and Generation of Enhancers to Analyze Pathfinding of Basal Ganglia Neurons. International Conference on Zebrafish Development and Genetics. June 2008. Poster #296.

of 24 Bonkowsky

Schweitzer, J., Kastenhuber, E., Kern, U., Bonkowsky, J., Chien, C.-B., and Driever, W. Longitudinal axon tract formation in the zebrafish hindbrain is orchestrated by multiple players. International Conference on Zebrafish Development and Genetics. June 2008. Poster #517. Bonkowsky, J.L., Wang, X., Fujimoto, E., Lee, E.J., Chien, C.-B., and Dorsky, R.I. foxP2 CNS expression is regulated by lef1. International Conference on Zebrafish Development and Genetics. June 2008. Poster #276. Bonkowsky, J.L., and Chien, C.-B. Characterization of Basal Ganglia Axon Pathfinding Using Zebrafish. Society for Neuroscience Meeting, November 2007. Poster #103481. Bonkowsky, J.L., and Chien, C.-B. Characterization of Basal Ganglia Axon Pathfinding Using Zebrafish. American Neurological Association Meeting, October 2007. Poster #M107. Bonkowsky, J.L., and Chien, C.-B. Characterization of Basal Ganglia Axon Pathfinding in Zebrafish. Child Neurology Society Meeting, October 2007. Poster #P1. Bonkowsky, J.L., and Filloux, F.M. Neurological evaluation, EEG, and CNS imaging in infants after an apparent life threatening event (ALTE). Child Neurology Society Meeting, September 2005. Poster #30. Benedict SL, Bonkowsky JL, Thompson JA, Van Orman CB, Bale JF, Filloux FM. Intracranial venous sinus thrombosis in children: a reason to treat iron-deficiency anemia. Child Neurology Society Meeting, October 2002. Poster #97. Bonkowsky JL, Filloux FM. Extrapontine myelinolysis in a pediatric case of diabetic ketoacidosis and cerebral edema. Child Neurology Society Meeting, October 2002. Poster #211. ORAL PRESENTATIONS Keynote/Plenary Lectures Meeting Presentations (Not Published Abstracts and Not Unpublished Posters) National 2018. JM Downie, SB Gibson, S Tsetsou, MD Keefe, KL Russell, KP Figueroa, MB Bromberg, LC Murtaugh, SM Pulst, JL Bonkowsky, LB Jorde. TP73 is an amyotrophic lateral sclerosis candidate risk gene. American Academy of Neurology. Los Angeles, CA. 2018. Bonkowsky J.L. Leukodystrophy Cases. Leukodystrophy Care Network Meeting. Nashville, T.N. USA. 2014. Bonkowsky, J.L. Preventable infections in children with leukodystrophies. United Leukodystrophy Foundation Meeting. Baltimore, MD. USA. 2009. Bonkowsky, J.L. The burden of inherited leukodystrophies in children. Child Neurology Society Meeting, Louisville, KY. USA. 2009. Bonkowsky, J.L., Kogelschatz, C., and Fujimoto, E. Effect of Developmental Hypoxia on CNS Connectivity. Child Neurology Society Meeting. Louisville, KY. USA. 2008. Bonkowsky, J.L., Fujimoto, E., and Chien, C.-B. Genetic enhancers for analysis of diencephalic dopaminergic neuron pathfinding in zebrafish. Society for Neuroscience Meeting, Washington, D.C., USA.

of 24 Bonkowsky

2007. Bonkowsky, J.L., Srivastava, R., Guenther, E., and Filloux, F.M. Death, Child Abuse, and Epilepsy Following an ALTE (Apparent Life-Threatening Event). Child Neurology Society Meeting, Quebec City, Canada. 2007. Bonkowsky, J.L., Guenther, E., Srivastava, R., and Filloux, F.M. Apparent Life-Threatening Events (ALTE) are a Significant Risk Factor for Child Abuse and Epilepsy. Pediatric Academic Society Meeting. Toronta, Canada. 2006. Bonkowsky, J.L. Hearing and Language Development. Biological Basis of Pediatric Practice. Deer Valley, Utah, USA. 2006. Bonkowsky, J.L. Investigating the function of language development genes using zebrafish as a model system. Western Intermountain Neurological Organization Meeting, Salt Lake City, Utah, USA. 2005. Bonkowsky, J.L. Neurological evaluation of infants after an apparent life-threatening event (ALTE). Western Intermountain Neurological Organization Meeting. Salt Lake City, Utah, USA. 2002. Bonkowsky, J.L., Frazer, K.J., Buchi, K.F., and Byington, C.L. Metamizole use: an under-recognized health risk in Latino immigrants. Pediatric Academic Societies Meeting. Baltimore, MD, USA. Invited/Visiting Professor Presentations November, 2017. Bonkowsky, J.L. Leukodystrophies: Current and Future Insights. The Sean Logan Distinguished Lecture Series on Neurodegeneration. Department of Neurology. University of Pittsburgh, Pittsburgh, Pennsylvania. USA October, 2017. Bonkowsky, J.L. From Tank to Bedside and Back Again: Integrating Discovery and Treatment in Pediatric Neurological Diseases. Children’s Hospital of Atlanta. Emory University, Atlanta, Georgia. USA. September, 2016. Bonkowsky, J.L. Integrating Discovery and Treatment in Pediatric Neurological Diseases. Department of Neurology. Columbia University, New York City, New York. USA. Grand Rounds Presentations November, 2017. Bonkowsky, J.L. Leukodystrophies: Current and Future Directions. Department of Neurology Grand Rounds, University of Pittsburgh, Pittsburgh, Pennsylvania. USA. October, 2017. Bonkowsky, J.L. Leukodystrophies: Etiology, Diagnosis, and Treatment. Department of Neurology Grand Rounds, University of Utah, Salt Lake City, Utah. USA. September, 2013. Bonkowsky, J.L. Why Zebrafish Matter: Translational Research in the Era of Health Care Reform. Department of Pediatrics. Grand Rounds. University of Utah, Salt Lake City, Utah. USA. December, 2012. Bonkowsky, J.L. Leukodystrophies: White Matters. Department of Pediatrics Grand Rounds, University of Utah, Salt Lake City, Utah. USA. July, 2012. Bonkowsky, J.L. An Overview of Leukodystrophies and their Health Care Impact. Neurosciences Grand Rounds, University of California, San Diego, California, USA.

of 24 Bonkowsky

2010. Bonkowsky, J.L. ALTEs (Apparent Life-Threatening Events). Department of Pediatrics. Salt Lake City, Utah, USA. 2009. Bonkowsky, J.L. The Burden of Inherited Leukodystrophies in Children. Department of Neurology. Salt Lake City, Utah, USA. 2007. Bonkowsky, J.L. Pediatric Neurodevelopmental Disorders. Department of Neurology. Salt Lake City, Utah, USA. 2006. Bonkowsky, J.L. Death, child abuse, and adverse neurological outcomes following an ALTE. Department of Neurology, Salt Lake City, Utah, USA. International Presentations April, 2018 Bonkowsky, J.L. Hypoxia and Connectivity in the Developing Vertebrate Nervous System. Keystone Symposium. Oxford University, Oxford, England. March, 2018 Bonkowsky, J.L. Novel Insights and Discoveries for Leukodystrophies Using Zebrafish. European Leukodystrophy Meeting, Paris, France March, 2016 Bonkowsky, J.L. From Tank to Bedside: Zebrafish and Pediatric Neurodevelopmental Disorders, University of Cambridge, Department of Physiology, Development, and Neurosciences, Cambridge, England. September, 2015 Bonkowsky, J.L. From tank to bedside and back again: Integrating Discovery and Treatment in Pediatric Neurological Diseases, Zebrafish for Personalized/Precision Medicine, Toronto, Canada. April, 2010 Bonkowsky, J.L. Genetic Tools and Analysis of Vertebrate Extrapyramidal Circuitry. Department of Developmental Biology, University of Freiburg, Freiburg, Germany. PATENTS U.S. Provisional Application No. 62/528,339, filed July 3, 2017, entitled “Rapid Non-Destructive Genetic Material Collection” CLINICAL IMPROVEMENT PROJECTS In-patient to Out-patient Transition Work Group. 3/2017-9/2017. Division of Pediatric Neurology. Pediatric Specialty Services. Pediatric Neurology Hospitalization and Charges Reduction. 5/2017-8/2017. Department of Pediatrics. Development of Anti-Epileptic Stewardship. 5/2017-present. Department of Pediatrics; Intermountain Healthcare. VOLUNTEER and OTHER Soccer Coach 2008-2009, Co-ed Under-6.

of 24 Bonkowsky

Stirba Foundation 5K Run Volunteer, 6/2010. Summer Camp, Wasatch Presbyterian Church, 6/2010 Soccer Coach 2010-2011. Boys Under-9. Soccer Coach 2011-2012. Boys Under-10. Treasurer, Lego First League Team, 2012-13. Soccer Coach 2013-2014. Boys Under-9. Maddy’s Run, September 2013, 1st place (overall) Xterra Park City 10k 2014, 1st place (Men’s Masters) Salt Lake City School District Science Fair, 2015, judge. Soccer Coach 2015. Co-ed Under 5. Soccer Coach 2016-17. Co-ed Under 6. Xterra National Trail Championship 2016, 3rd place (Men’s 45-49). Organizer, Whittier Elementary School Coding Club, 2016-17. Leadville Trail 100 Run. Finisher, August 2017. West High School, Ultimate Frisbee Coach (7th&8th grades), 2018-19.

1864 hubbard avenue · 1992-2000 nih medical scientist training program, san diego, ca. 1994-1998...

Documents