Simon Gabriel Kupchik MD
Clinical Genetics, Clinical Molecular Genetics
Physician
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977 48th StreetBrooklyn, NY 11219
Phone+1 718-283-8423
Fax+1 718-283-6268
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Summary
- Dr. Simon Kupchik specializes in Medical Genetics with subspecialties in Clinical Genetics and Clinical Molecular Genetics. He completed his education at the University of Buenos Aires in 1984 and underwent pediatrics residency at Zucker School of Medicine at Hofstra/Northwell at Cohen Children's Medical Center and Icahn School of Medicine at Mount Sinai/Kravis Children's by 1989. He has published research on newborn screening and genetic disorders, with notable works in Molecular Genetics and Metabolism Reports and other prestigious journals, contributing significantly to the field with multiple citations. Dr. Kupchik practices in Brooklyn, NY.
Education & Training
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
Certifications & Licensure
NJ State Medical License 1988 - Present
NY State Medical License 1988 - 2028
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
Publications & Presentations
PubMed
- 10 citationsScreenPlus: 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 - 12 citationsBi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem diseaseGerarda Cappuccio, Camilla Ceccatelli Berti, Enrico Baruffini, Jennifer A. Sullivan, Vandana Shashi
Human Mutation. 2021-05-11 - 120 citationsThe New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants.Melissa P. Wasserstein, Michele Caggana, Sean M. Bailey, Robert J. Desnick, Lisa Edelmann
Genetics in Medicine. 2019-03-01
Journal Articles
- The New York Pilot Newborn Screening Program for Lysosomal Storage Diseases: Report of the First 65,000 InfantsLissette Estrella, Chunli Yu, S Gabriel Kupchik, Sean M Bailey, Randi Wasserman, Ian Holzman, Suhas M Nafday, Robert J Desnick, Amy Yang, Nature
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