Ganka Douglas

Neuroligin 2 nonsense variant associated with anxiety, autism, intellectual disability, hyperphagia, and obesity

Daniel J. Parente, Caryn Garriga, Berivan Baskin et al. · American Journal of Medical Genetics Part A · 2016 · 125 citations

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Lot Snijders Blok, Justine Rousseau, Joanna Twist et al. · Nature Communications · 2018 · 116 citations · Full text

Brain Development, Genetics, Molecular Biology +25

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

Jung‐Hyun Kim, Deepali N. Shinde, Margot R.F. Reijnders et al. · The American Journal of Human Genetics · 2016 · 111 citations · Full text

Developmental Biology, Mendelian Disorder, Brain Development +11

NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

Paige Martin, Yu Kigoshi-Tansho, Roger B. Sher et al. · Nature Communications · 2020 · 91 citations · Full text

WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features

Cara Skraban, Constance Wells, Preetha Markose et al. · The American Journal of Human Genetics · 2017 · 90 citations · Full text

Intellectual Impairment, Corticobasal Degeneration, Neurological Disorder +7