Natasha Shur

Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

Santhosh Girirajan, Jill A. Rosenfeld, Bradley P. Coe et al. · New England Journal of Medicine · 2012 · 634 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Recessive truncating titin gene, <i>TTN</i> , mutations presenting as centronuclear myopathy

Ozge Ceyhan‐Birsoy, Pankaj B. Agrawal, Carlos Hidalgo et al. · Neurology · 2013 · 217 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Newborn screening for X-linked adrenoleukodystrophy in New York State: Diagnostic protocol, surveillance protocol and treatment guidelines

Beth Vogel, Sue Bradley, Darius J. Adams et al. · Molecular Genetics and Metabolism · 2015 · 123 citations

Medicine, Endocrinology, Pediatrics +16

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

Slavé Petrovski, Sébastien Küry, Candace T. Myers et al. · The American Journal of Human Genetics · 2016 · 119 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Newborn screening for Krabbe disease in New York State: the first eight years’ experience

Joseph J. Orsini, Denise M. Kay, Carlos A. Saavedra‐Matiz et al. · Genetics in Medicine · 2016 · 111 citations · Full text

Medicine, Child Health, Pediatrics +13