Ruth McGowan

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

Alexander Hoischen, Bregje W.M. van Bon, Benjamín Rodríguez‐Santiago et al. · Nature Genetics · 2011 · 277 citations

Somatic Variant, Autoimmune Disease, Mendelian Disorder +5

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder

Sara Cuvertino, Helen M. Stuart, Kate Chandler et al. · The American Journal of Human Genetics · 2017 · 135 citations · Full text

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

Christopher T. Gordon, Shifeng Xue, Gökhan Yigit et al. · Nature Genetics · 2017 · 131 citations · Full text

Mendelian Disorder, Autoimmune Disease, Genetic Disorder +5

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

Anne O’Donnell‐Luria, Lynn Pais, Víctor Faúndes et al. · The American Journal of Human Genetics · 2019 · 97 citations · Full text

Neurodevelopmental Disorders, Developmental Biology, Heterozygous Variants +8

Cellular mosaicism in the methylation and expression of hemizygous loci in the mouse.

Ruth McGowan, Robert M. Campbell, Alan C. Peterson et al. · Genes & Development · 1989 · 84 citations · Full text

Epigenetic Change, Genetics, Dna Methylation +18