Stephanie Sacharow

Copy Number Variants in Extended Autism Spectrum Disorder Families Reveal Candidates Potentially Involved in Autism Risk

Daria Salyakina, Holly N. Cukier, Joycelyn M. Lee et al. · PLoS ONE · 2011 · 79 citations · Full text

Genetics, Human Polymorphism, Autism Risk +17

Frequent detection of parental consanguinity in children with developmental disorders by a combined CGH and SNP microarray

Yao‐Shan Fan, Xiaomei Ouyang, Jinghong Peng et al. · Molecular Cytogenetics · 2013 · 33 citations · Full text

Clinical Comparison of Overlapping Deletions of 19p13.3

Hiba Risheg, Romela Pasion, Stephanie Sacharow et al. · American Journal of Medical Genetics Part A · 2013 · 14 citations

Hereditary orotic aciduria (HOA): A novel uridine-5-monophosphate synthase (UMPS) mutation

Hebah S. Al Absi, Stephanie Sacharow, Naser Al Zein et al. · Molecular Genetics and Metabolism Reports · 2021 · 13 citations · Full text

Expanded newborn screening in Puerto Rico and the US Virgin Islands: education and barriers assessment

Ana Morales, Andrea Wierenga, Carla Cuthbert et al. · Genetics in Medicine · 2009 · 10 citations