Katia Sol‐Church

<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

Single-nucleus chromatin accessibility profiling highlights regulatory mechanisms of coronary artery disease risk

Adam W. Turner, Shengen Shawn Hu, José Verdezoto Mosquera et al. · Nature Genetics · 2022 · 157 citations · Full text

Life Sciences, Genetics, Molecular Biology +16

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

Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: A Ras/MAPK pathway syndrome

Angela E. Lin, Mark E. Alexander, Steven D. Colan et al. · American Journal of Medical Genetics Part A · 2011 · 132 citations · Full text

Medicine, Cardiology, Genetics +17