Jennifer B. Humberson

Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice

Dianalee McKnight, Ana Morales, Kathryn E. Hatchell et al. · JAMA Neurology · 2022 · 94 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations in ARID2 are associated with intellectual disabilities

Linshan Shang, Megan T. Cho, Kyle Retterer et al. · Neurogenetics · 2015 · 80 citations

Life Sciences, Genetics, Molecular Genetics +12

TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development

Geeske M. van Woerden, Melanie Bos, Charlotte de Konink et al. · Human Mutation · 2021 · 65 citations · Full text

Life Sciences, Genetics, Neuroscience +17

NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain

Kimberly A. Aldinger, Chi Vicky Cheng, Takae Kiyama et al. · Molecular Cell · 2021 · 57 citations · Full text

Life Sciences, Molecular Biology, Neuroscience +9

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

Benjamin Cogné, Sophie Ehresmann, Éliane Beauregard‐Lacroix et al. · The American Journal of Human Genetics · 2019 · 55 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14