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Office
145 East 32 Street, PH
New York, NY 10016Phone+1 646-754-2222Fax+1 646-754-2250- Is this information wrong?
Education & Training
- Albert Einstein College of MedicineM.S., Biomedical Research Methodology, 1999 - 2001
- Icahn School of Medicine at Mount SinaiResidency, Medical Genetics and Genomics, 1993 - 1995
- Icahn School of Medicine at Mount Sinai/Kravis Children'sResidency, Pediatrics, 1987 - 1991
- University of AthensClass of 1985
Certifications & Licensure
- NY State Medical License 1990 - 2025
- American Board of Pediatrics Pediatrics
- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Awards, Honors, & Recognition
- CMS Meaningful Use Stage 1 Certification EpicCare Ambulatory EMR, Epic Systems Corporation, 2013
- Elective Attending of the Year NYU Children's Hospital, 2012
- Attending Physician of the Year NYU/Bellevue Pediatric Housestaff, 2002
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Clinical Trials
- Prenatal Non-invasive Aneuploidy Test Utilizing SNPs Trial Start of enrollment: 2012 Jan 01
Publications & Presentations
PubMed
- 21 citationsVariants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.Erin Torti, Boris Keren, Elizabeth E. Palmer, Zehua Zhu, Alexandra Afenjar
Genetics in Medicine. 2019-02-11 - 11 citationsExpanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.Schaida Schirwani, Shadi Albaba, Deanna Alexis Carere, Maria J. Guillen Sacoto, Francisca Milan Zamora
American Journal of Medical Genetics. Part A. 2021-08-26 - 41 citationsGermline AGO2 mutations impair RNA interference and human neurological developmentDavor Lessel, Daniela M. Zeitler, Margot R.F. Reijnders, Andriy Kazantsev, Fatemeh Hassani Nia
Nature Communications. 2020-11-16
Abstracts/Posters
- New syndrome: brain malformations, Peters anomaly and multiple intestinal atresiasJ. G. Pappas, A. L. Shanske, 63rd Annual Meeting of The American Society of Human Genetics, Boston, MA, 10/24/2013
- Aicardi-Goutieres syndrome carrier screening in Ashkenazi Jewish familiesC. Jalas, A. Fedick, C. Landau, C. Halberstam, A. Shaag, W. K. Chung, J. G. Pappas, E. S. Moran, J. Roberts, N. R. Treff, M. Szynkiewicz, G. Rice, Y. J. Crow, O. Elpel..., 63rd Annual Meeting of The American Society of Human Genetics, Boston, MA, 10/23/2013
- Exome sequencing: A challenging prenatal diagnosis caseEmily Bloom, Elsa Reich, Pe'er Dar, Susan Klugman, John Pappas, ACMG Annual Clinical Genetics Meeting, Nashville, TN, 3/27/2013
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Lectures
- Genetics of Autism1/1/2013
- Neurofibroma Educational Series: Neurofibromatosis Type 2: an update1/1/2012
- Autism1/1/2012
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Press Mentions
- It’s a Special Father’s Day for Dad Who Gave 9-Year-Old Son a KidneyJuly 24th, 2024
Professional Memberships
- Fellow
- American College of Medical Genetics and GenomicsFellow
Hospital Affiliations
- NYC Health + Hospitals / BellevueNew York, New York
- NYU Langone HospitalsNew York, New York
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