Colby T. Marvin

De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay

Jessica X. Chong, Margaret J. McMillin, Kathryn M. Shively et al. · The American Journal of Human Genetics · 2015 · 157 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns

Tara Wenger, Abbey Scott, Lukas Kruidenier et al. · The American Journal of Human Genetics · 2025 · 15 citations · Full text

Medicine, Genetics, Pediatrics +17

Variants regulating <i>ZBTB4</i> are associated with age‐at‐onset of Alzheimer's disease

Elizabeth Blue, Chang‐En Yu, Timothy A. Thornton et al. · Genes Brain & Behavior · 2017 · 10 citations

Life Sciences, Genetics, Molecular Genetics +17