Ryan Richholt

Delineating the <i>GRIN1</i> phenotypic spectrum

Johannes R. Lemke, Kirsten Geider, Katherine L. Helbig et al. · Neurology · 2016 · 207 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Total Extracellular Small RNA Profiles from Plasma, Saliva, and Urine of Healthy Subjects

Ashish Yeri, Amanda Courtright, Rebecca Reiman et al. · Scientific Reports · 2017 · 156 citations · Full text

Life Sciences, Molecular Biology, Gene Expression +13

Canine osteosarcoma genome sequencing identifies recurrent mutations in DMD and the histone methyltransferase gene SETD2

Heather L. Gardner, Karthigayini Sivaprakasam, Natalia Briones et al. · Communications Biology · 2019 · 126 citations · Full text

Medicine, Genetics, Oncology +17

Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation

Chris Balak, Marianne Bénard, Élise Schaefer et al. · The American Journal of Human Genetics · 2019 · 86 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome

Isabelle Schrauwen, Szabolcs Szelinger, Ashley L. Siniard et al. · PLoS ONE · 2015 · 51 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12