Joan M. Stoler

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders

David T. Miller, Yiping Shen, Lauren A. Weiss et al. · Journal of Medical Genetics · 2008 · 430 citations

Life Sciences, Genetics, Molecular Genetics +17

Deletions of <i>NRXN1</i> (neurexin‐1) predispose to a wide spectrum of developmental disorders

Michael S. Ching, Yiping Shen, Wen‐Hann Tan et al. · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 2010 · 309 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations

Jennifer J. Johnston, Isabelle Olivos‐Glander, Christina Killoran et al. · The American Journal of Human Genetics · 2005 · 277 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease

Rachel Ramoni, John J. Mulvihill, David R. Adams et al. · The American Journal of Human Genetics · 2017 · 188 citations · Full text

Public Health, Biomedical Informatics, Health Informatics +13

Copy number variation plays an important role in clinical epilepsy

Heather E. Olson, Yiping Shen, Jennifer Avallone et al. · Annals of Neurology · 2014 · 173 citations

Life Sciences, Genetics, Molecular Genetics +17