SimonGabrielKupchikMD

Clinical Genetics, Clinical Molecular Genetics

Physician

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Office
977 48th Street
Brooklyn, NY 11219
Phone+1 718-283-8423

Fax+1 925-307-5235

Dr. Simon Kupchik is a medical geneticist in Brooklyn, NY and is affiliated with multiple hospitals in the area, including Maimonides Medical Center, NYC Health + Hospitals / Coney Island, and Brookdale Hospital Medical Center. He received his medical degree from University of Buenos Aires and has been in practice 33 years. He specializes in clinical genetics and clinical molecular genetics. He has more than 10 publications and 31 citings.

Icahn School of Medicine at Mount Sinai/Kravis Children'sResidency, Pediatrics, 1988 - 1989
Zucker School of Medicine at Hofstra/Northwell at Cohen Children's Medical CenterResidency, Pediatrics, 1985 - 1987
University of Buenos AiresClass of 1984

NJ State Medical License 1988 - Present
NY State Medical License 1988 - 2026
FL State Medical License 1996 - 2005
MN State Medical License 1987 - 1988
American Board of Medical Genetics and Genomics Clinical Genetics
American Board of Pediatrics Pediatrics
American Board of Medical Genetics and Genomics Clinical Molecular Genetics and Genomics

PubMed

6 citations
Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease
Gerarda Cappuccio, Camilla Ceccatelli Berti, Enrico Baruffini, Jennifer A. Sullivan, Vandana Shashi
Human Mutation. 2021-05-11
23 citations
Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability.
Rosalind Verheije, G. Kupchik, Bertrand Isidor, Hester Y. Kroes, Sally Ann Lynch
European Journal of Human Genetics. 2019-02-01
2 citations
ScreenPlus: A comprehensive, multi-disorder newborn screening program.
Nicole R Kelly, Joseph J Orsini, Aaron J Goldenberg, Niamh S Mulrooney, Natalie A Boychuk
Molecular Genetics and Metabolism Reports. 2024-03-01

Journal Articles

The New York Pilot Newborn Screening Program for Lysosomal Storage Diseases: Report of the First 65,000 Infants
Lissette Estrella, Chunli Yu, S Gabriel Kupchik, Sean M Bailey, Randi Wasserman, Ian Holzman, Suhas M Nafday, Robert J Desnick, Amy Yang, Nature