Deborah L. Stabley

<i>HRAS</i> mutation analysis in Costello syndrome: Genotype and phenotype correlation

Karen W. Gripp, Angela E. Lin, Deborah L. Stabley et al. · American Journal of Medical Genetics Part A · 2005 · 189 citations

Life Sciences, Genetics, Molecular Genetics +15

A novel rasopathy caused by recurrent de novo missense mutations in <i>PPP1CB</i> closely resembles Noonan syndrome with loose anagen hair

Karen W. Gripp, Kimberly A. Aldinger, James T. Bennett et al. · American Journal of Medical Genetics Part A · 2016 · 151 citations

Life Sciences, Genetics, Molecular Genetics +17

Diamond–Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes <i>TSR2</i> and <i>RPS28</i>

Karen W. Gripp, Cynthia J. Curry, Ann Haskins Olney et al. · American Journal of Medical Genetics Part A · 2014 · 148 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies

Marcello Niceta, Emilia Stellacci, Karen W. Gripp et al. · The American Journal of Human Genetics · 2015 · 117 citations · Full text

Life Sciences, Developmental Biology, Genetics +17

GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome

Amy Lacroix, Deborah L. Stabley, Rebecca Sahraoui et al. · The American Journal of Human Genetics · 2018 · 115 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12