Steven A. Skinner

Autism and maternally derived aberrations of chromosome 15q

Richard J. Schroer, Mary C. Phelan, Ron C. Michaelis et al. · American Journal of Medical Genetics · 1998 · 372 citations

Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA

Tobias B. Haack, Penelope Hogarth, Michael C. Kruer et al. · The American Journal of Human Genetics · 2012 · 358 citations · Full text

X-linked Dominant Form, Genetic Disorder, Genetics +8

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

Erfan Aref‐Eshghi, Jennifer Kerkhof, Victor P. Pedro et al. · The American Journal of Human Genetics · 2020 · 309 citations · Full text

Neurodevelopmental Disorders, Mendelian Disorder, Epigenetic Change +11

<i>Methyl-CpG-binding protein 2</i> (<i>MECP2</i>) mutation type is associated with disease severity in Rett syndrome

Vishnu Anand Cuddapah, Rajesh B Pillai, Kiran V Shekar et al. · Journal of Medical Genetics · 2014 · 306 citations · Full text

Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders

Shay Ben‐Shachar, Brendan C. Lanpher, Jennifer R. German et al. · Journal of Medical Genetics · 2009 · 265 citations · Full text