John Pappas MD

Clinical Genetics, Molecular Genetic Pathology

Associate Professor, Pediatrics, New York University School of Medicine

160 E 32nd StNew York, NY 10016
Phone+1 646-754-2222
Fax+1 646-754-2250

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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

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Certifications & Licensure

NY State Medical License 1990 - 2027
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 - Core EMR, Epic Systems Corporation, 2013
CMS Meaningful Use Stage 1 Certification EpicCare Ambulatory EMR, Epic Systems Corporation, 2013
Elective Attending of the Year NYU Children's Hospital, 2012

Clinical Trials

Prenatal Non-invasive Aneuploidy Test Utilizing SNPs Trial
TERMINATED

Publications & Presentations

PubMed

2 citations
Expanding the phenotypic spectrum of COLEC10-Related 3MC syndrome: A glimpse into COLEC10-Related 3MC syndrome in the Ashkenazi Jewish population.
Rachel Rabin, Yoel Hirsch, Wendy K Chung, Josef Ekstein, Ephrat Levy-Lahad
American Journal of Medical Genetics. Part A. 2022-10-01
8 citations
De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations.
Kerith-Rae Dias, Colleen M Carlston, Laura E R Blok, Lachlan De Hayr, Urwah Nawaz
Genetics in Medicine. 2022-09-01
4 citations
Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder.
Marije Meuwissen, Aline Verstraeten, Emmanuelle Ranza, Justyna Iwaszkiewicz, Maaike Bastiaansen
Genetics in Medicine. 2022-07-01

Abstracts/Posters

New syndrome: brain malformations, Peters anomaly and multiple intestinal atresias
J. 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 families
C. 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 case
Emily Bloom, Elsa Reich, Pe'er Dar, Susan Klugman, John Pappas, ACMG Annual Clinical Genetics Meeting, Nashville, TN, 3/27/2013

Lectures