Jeff M. Milunsky

Clinical Genetic Testing for Patients With Autism Spectrum Disorders

Yiping Shen, Kira A. Dies, Ingrid A. Holm et al. · PEDIATRICS · 2010 · 394 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Rapid-Onset Obesity With Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Presenting in Childhood

Diego Ize-Ludlow, Juliette Gray, Mark A. Sperling et al. · PEDIATRICS · 2007 · 237 citations

Life Sciences, Genetics, Pediatrics +11

Ataxia, Dementia, and Hypogonadotropism Caused by Disordered Ubiquitination

David Margolin, Maria Kousi, Yee-Ming Chan et al. · New England Journal of Medicine · 2013 · 232 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients

Gijs W.E. Santen, Emmelien Aten, Anneke T. Vulto‐van Silfhout et al. · Human Mutation · 2013 · 220 citations

Life Sciences, Genetics, Molecular Genetics +17

TFAP2A Mutations Result in Branchio-Oculo-Facial Syndrome

Jeff M. Milunsky, Tom A. Maher, Geping Zhao et al. · The American Journal of Human Genetics · 2008 · 211 citations · Full text

Life Sciences, Genetics, Ophthalmology +12