Naomi Meeks

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes

Simone Martinelli, Oliver H.F. Krumbach, Francesca Pantaleoni et al. · The American Journal of Human Genetics · 2018 · 181 citations · Full text

Signal Transduction, Signaling Pathway, Cell Regulation +5

The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families

Michael D. Fountain, Emmelien Aten, Megan T. Cho et al. · Genetics in Medicine · 2016 · 116 citations · Full text

Schaaf-yang Syndrome, Autoimmune Disease, Genetic Disorder +8

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder

Davor Lessel, Claudia Schob, Sébastien Küry et al. · The American Journal of Human Genetics · 2017 · 107 citations · Full text

Neurodevelopmental Disorders, Developmental Biology, Mendelian Disorder +6

Automated syndrome diagnosis by three-dimensional facial imaging

Benedikt Hallgrímsson, J. David Aponte, David C. Katz et al. · Genetics in Medicine · 2020 · 101 citations · Full text

Predominant and novel de novo variants in 29 individuals with <scp><i>ALG13</i></scp> deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions

Bobby G. Ng, Erik A. Eklund, Sergey A. Shiryaev et al. · Journal of Inherited Metabolic Disease · 2020 · 36 citations · Full text