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Office
705 Riley Hospital Dr
Indianapolis, IN 46202Phone+1 317-948-7450Fax+1 317-968-1193- Is this information wrong?
Education & Training
- Indiana University School of MedicineResidency, Medical Genetics and Genomics, 1996 - 1998
- Indiana University School of MedicineFellowship, Child Neurology, 1989 - 1992
- Indiana University School of MedicineResidency, Pediatrics, 1987 - 1989
- Indiana University School of MedicineClass of 1987
Certifications & Licensure
- IN State Medical License 1989 - 2025
- OH State Medical License 1993 - 2011
- American Board of Psychiatry and Neurology Neurology with Special Qualification in Child Neurology
- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Awards, Honors, & Recognition
- Indianapolis Monthly Castle Connolly, 2010-2013
Publications & Presentations
PubMed
- 23 citationsExpanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.Magdalena Koczkowska, Tom Callens, Alicia Gomes, Angela Sharp, Yunjia Chen
Genetics in Medicine. 2019-04-01 - 24 citationsLoss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital MalformationsJoel J. Hughes, Ebba Alkhunaizi, Paul Kruszka, Louise C. Pyle, Dorothy K. Grange
American Journal of Human Genetics. 2020-01-02 - 27 citationsPathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain sizeDiana Le Duc, Cecilia R Giulivi, Susan M. Hiatt, Eleonora Napoli, Alexios A Panoutsopoulos
Brain. 2019-09-01
Press Mentions
- Interview: “We Intend to Ultimately Develop a Daily Use Oral Care Product with a Natural Substance”March 6th, 2019
- Neurologists at IU Administer First-of-Its-Kind FDA-Approved Gene TherapyJanuary 25th, 2024
Grant Support
- Epoxide Hydrolase And Phenytoin Induced TeratogenesisNational Institute Of Dental &Craniofacial Research1998–2000
Hospital Affiliations
- Select Specialty Hospital of INpolisIndianapolis, Indiana
- Indiana University Health North HospitalCarmel, Indiana
- Indiana University Health University HospitalIndianapolis, Indiana
- Indiana University Health Ball Memorial HospitalMuncie, Indiana
- Riley Hospital for Children at IU HealthIndianapolis, Indiana
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