Rachel Rabin

Germline AGO2 mutations impair RNA interference and human neurological development

Davor Lessel, Daniela M. Zeitler, Margot R.F. Reijnders et al. · Nature Communications · 2020 · 102 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Diagnostic exome sequencing in children: A survey of parental understanding, experience and psychological impact

Julia Wynn, Ruth Ottman, J. Duong et al. · Clinical Genetics · 2017 · 61 citations

Life Sciences, Genetics, Psychology +13

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature

Erin Torti, Boris Keren, Elizabeth E. Palmer et al. · Genetics in Medicine · 2019 · 41 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

De novo mutations in childhood cases of sudden unexplained death that disrupt intracellular Ca ²⁺ regulation

Matthew Halvorsen, Laura Gould, Xiaohan Wang et al. · Proceedings of the National Academy of Sciences · 2021 · 38 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia

Lynn M. Boyden, Lihi Atzmony, Claire Hamilton et al. · The American Journal of Human Genetics · 2019 · 35 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13