SimonGabrielKupchikMD

PubMed

• ScreenPlus: A comprehensive, multi-disorder newborn screening program.
  Nicole R Kelly, Joseph J Orsini, Aaron J Goldenberg, Niamh S Mulrooney, Natalie A Boychuk, Megan J Clarke, Katrina Paleologos, Monica M Martin, Hannah McNeight, Michel...> ;Molecular Genetics and Metabolism Reports. 2024 Mar 1
• 3 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, Tamison Jewett, Tara H. Stamper, Silvia Maitz, Francesco Canonico,...> ;Human Mutation. 2021 May 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, Lara Hawkes, Maja Hempel, Bruce D. Gelb, Jamal Ghoumid, Guylaine D’Amours, Kate Chand...> ;European Journal of Human Genetics. 2019 Feb 1
• The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants.
  Wasserstein, M. P.,Caggana, M.,Bailey, S. M.,Desnick, R. J.,Edelmann, L.,Estrella, L.,Holzman, I.,Kelly, N. R.,Kornreich, R.,Kupchik, S. G.,Martin, M.,Nafday, S. M.,Wa...> ;Genet. Med.. 2018 Aug 11
• Increased prevalence of renal and urinary tract anomalies in children with Down syndrome.
  Kupferman, J.C., Druschel, C.M., Kupchik, G.S.> ;Pediatrics. 2009-10-01
• Genetic counseling for families of patients with fragile X syndrome.
  Barrett, S.K., Drazin, T., Rosa, D., Kupchik, G.S.> ;JAMA. 2004 Jun 23
• 6 citations
  Atypical 18p- syndrome associated with partial trisomy 16p in a chromosomally unbalanced child of consanguineous parents with an identical balanced translocation
  G. Kupchik, Shannon K. Barrett, Arvind Babu, Gustavo A. Charria-Ortiz, Milen Velinov, M Macera> ;European Journal of Medical Genetics. 2005 Jan 1
• GMS syndrome: a new dominant condition with goniodysgenesis, mental retardation, and short stature.
  Kupchik, G. S., Ludman, M. D., Raab, E. L., Gilbert, F.> ;Am J Med Genet. 1992 Jan 1
• Cystic fibrosis and congenital agenesis of the vas deferens, antisperm antibodies and CF-genotype.
  Vazquez-Levin, M. H., Kupchik, G. S., Torres, Y., Chaparro, C. A., Shtainer, A., Bonforte, R. J., Nagler, H. M.> ;J Reprod Immunol. 1994 Dec
• Hypoplastic left heart in a female infant with partial trisomy 4q due to de novo 4;21 translocation.
  Velinov, M., Gu, H., Yeboa, K., Warburton, D., Tubo, T., Dhuper, S., Lanter, S., Delprino, D., Kupchik, G., Jenkins, E. C.> ;Am J Med Genet. 2002 Feb 1
• Polycystic kidneys and del (4)(q21.1q21.3): further delineation of a distinct phenotype.
  Velinov, M., Kupferman, J., Gu, H., Macera, M. J., Babu, A., Jenkins, E. C., Kupchik, G.> ;Eur J Med Genet. 2005 Jun 15
• More than skin deep: a case of congenital lamellar ichthyosis, lymphatic malformation, and other abnormalities.
  Small, K., Ginsburg, H., Greco, M. A., Sarita-Reyes, C., Kupchik, G., Blei, F.> ;Lymphat Res Biol. 2008
• Genotype/phenotype discrepancies in cystic fibrosis.
  Kupchik, G.> ;Lancet. 1991 Jan 12
• PCR-based methylation testing for Prader-Willi or Angelman syndromes using archived fixed-cell suspensions.
  Velinov, M., Gu, H., Shah, K., Genovese, M., Duncan, C., Kupchik, G., Jenkins, E. C.> ;Genet Test. 2001
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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