The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants
Wasserstein, Melissa P., Caggana, Michele, Bailey, Sean M., Desnick, Robert J., Edelmann, Lisa, Estrella, Lissette, Holzman, Ian, Kelly, Nicole R., Kornreich, Ruth, Kupchik, S. Gabriel, Martin, Monica, Nafday, Suhas M., Wasserman, Randi, Yang, Amy, Yu, Chunli, Orsini, Joseph J.
Published in Genetics in medicine (01.03.2019)
Published in Genetics in medicine (01.03.2019)
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Bi‐allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease
Cappuccio, Gerarda, Ceccatelli Berti, Camilla, Baruffini, Enrico, Sullivan, Jennifer, Shashi, Vandana, Jewett, Tamison, Stamper, Tara, Maitz, Silvia, Canonico, Francesco, Revah‐Politi, Anya, Kupchik, Gabriel S., Anyane‐Yeboa, Kwame, Aggarwal, Vimla, Benneche, Andreas, Bratland, Eirik, Berland, Siren, D'Arco, Felice, Alves, Cesar A., Vanderver, Adeline, Longo, Daniela, Bertini, Enrico, Torella, Annalaura, Nigro, Vincenzo, D'Amico, Alessandra, Knaap, Marjo S., Goffrini, Paola, Brunetti‐Pierri, Nicola
Published in Human mutation (01.06.2021)
Published in Human mutation (01.06.2021)
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Increased prevalence of renal and urinary tract anomalies in children with Down syndrome
Kupferman, Juan C, Druschel, Charlotte M, Kupchik, Gabriel S
Published in Pediatrics (Evanston) (01.10.2009)
Published in Pediatrics (Evanston) (01.10.2009)
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Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability
Verheije, Rosalind, Kupchik, Gabriel S, Isidor, Bertrand, Kroes, Hester Y, Lynch, Sally Ann, Hawkes, Lara, Hempel, Maja, Gelb, Bruce D, Ghoumid, Jamal, D'Amours, Guylaine, Chandler, Kate, Dubourg, Christèle, Loddo, Sara, Tümer, Zeynep, Shaw-Smith, Charles, Nizon, Mathilde, Shevell, Michael, Van Hoof, Evelien, Anyane-Yeboa, Kwame, Cerbone, Gaetana, Clayton-Smith, Jill, Cogné, Benjamin, Corre, Pierre, Corveleyn, Anniek, De Borre, Marie, Hjortshøj, Tina Duelund, Fradin, Mélanie, Gewillig, Marc, Goldmuntz, Elizabeth, Hens, Greet, Lemyre, Emmanuelle, Journel, Hubert, Kini, Usha, Kortüm, Fanny, Le Caignec, Cedric, Novelli, Antonio, Odent, Sylvie, Petit, Florence, Revah-Politi, Anya, Stong, Nicholas, Strom, Tim M, van Binsbergen, Ellen, Devriendt, Koenraad, Breckpot, Jeroen
Published in European journal of human genetics : EJHG (01.02.2019)
Published in European journal of human genetics : EJHG (01.02.2019)
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Genetic Counseling for Families of Patients With Fragile X Syndrome
Barrett, Shannon K, Drazin, Tamara, Rosa, Deborah, Kupchik, Gabriel S
Published in JAMA : the journal of the American Medical Association (23.06.2004)
Published in JAMA : the journal of the American Medical Association (23.06.2004)
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Atypical 18p- syndrome associated with partial trisomy 16p in a chromosomally unbalanced child of consanguineous parents with an identical balanced translocation
Kupchik, Gabriel S., Barrett, Shannon K., Babu, Arvind, Charria-Ortiz, Gustavo, Velinov, Milen, Macera, Michael J.
Published in European journal of medical genetics (2005)
Published in European journal of medical genetics (2005)
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Cystic fibrosis and congenital agenesis of the vas deferens, antisperm antibodies and CF-genotype
Vazquez-Levin, Monica H., Kupchik, Gabriel S., Torres, Yanneth, Chaparro, Carlos A., Shtainer, Alfred, Bonforte, Richard J., Nagler, Harris M.
Published in Journal of reproductive immunology (01.12.1994)
Published in Journal of reproductive immunology (01.12.1994)
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Atypical 18p- syndrome associated with partial trisomy 16p in a chromosomally unbalanced child of consanguineous parents with an identical balanced translocation
KUPCHIK, G, BARRETT, S, BABU, A, CHARRIAORTIZ, G, VELINOV, M, MACERA, M
Published in Annales de génétique (29.09.2004)
Published in Annales de génétique (29.09.2004)
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Journal Article
GMS syndrome: a new dominant condition with goniodysgenesis, mental retardation, and short stature
Kupchik, G S, Ludman, M D, Raab, E L, Gilbert, F
Published in American journal of medical genetics (01.01.1992)
Published in American journal of medical genetics (01.01.1992)
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