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Office
3 Cooper Plz
Suite 200
Camden, NJ 08103Phone+1 856-342-2001
Education & Training
- Children's Hospital of PhiladelphiaResidency, Medical Genetics and Genomics, 1984 - 1987
- Icahn School of Medicine at Mount Sinai/Kravis Children'sResidency, Pediatrics, 1981 - 1984
- Baylor College of MedicineClass of 1981
Certifications & Licensure
- NJ State Medical License 1996 - 2025
- PA State Medical License 1984 - 2024
- American Board of Medical Genetics and Genomics Clinical Biochemical Genetics
- American Board of Medical Genetics and Genomics Clinical Cytogenetics
- American Board of Medical Genetics and Genomics Clinical Genetics
- American Board of Pediatrics Pediatrics
Awards, Honors, & Recognition
- Inside Jersey - Top Doctors for Children Castle Connolly, 2012-2014
- Inside Jersey Magazine Top Doctors Castle Connolly, 2010-2014
- Philadelphia Magazine Castle Connolly, 2006-2014
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Publications & Presentations
PubMed
- 21 citationsVariants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathyNorine Voisin, Rhonda E. Schnur, Sofia Douzgou, Susan M. Hiatt, Cecilie F. Rustad
American Journal of Human Genetics. 2021-05-06 - 404 citationsPhenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number VariantsSanthosh Girirajan, Jill A. Rosenfeld, Bradley P. Coe, Sumit Parikh, Neil R. Friedman
The New England Journal of Medicine. 2012-10-03 - 58 citationsAutosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphismKazuyoshi Fukai, Stuart A. Holmes, Neil J. Lucchese, Victoria Mok Siu, Richard G. Weleber
Nature Genetics. 1995-01-01
Press Mentions
- The Venetian Antithesis: Treating Median Canaliform Nail DystrophyOctober 11th, 2023
Professional Memberships
- American College of Medical GeneticsMember
- American Society of Human GeneticsMember
- Society of Inherited Metabolic DisordersMember
- Society of Pediatric DermatologyMember
- American Medical AssociationMember
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