Sarah E. Raible

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

Michael D. Fountain, David S. Oleson, Megan Rech et al. · Genetics in Medicine · 2019 · 73 citations · Full text

Cornelia de Lange syndrome in diverse populations

Leah Dowsett, Antonio R. Porras, Paul Kruszka et al. · American Journal of Medical Genetics Part A · 2019 · 53 citations · Full text

Autoimmune Disease, Ophthalmology, Scleroderma +15

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay

Lisenka E.L.M. Vissers, Sreehari Kalvakuri, Elke de Boer et al. · The American Journal of Human Genetics · 2020 · 47 citations · Full text

Developmental Biology, Cause Neurodevelopmental Delay, Genetic Disorder +9

Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss

Sarah E. Sheppard, Sawona Biswas, Mindy H. Li et al. · Genetics in Medicine · 2018 · 40 citations · Full text

Clinical and molecular spectrum of CHOPS syndrome

Sarah E. Raible, Devanshi Mehta, Chiara Bettale et al. · American Journal of Medical Genetics Part A · 2019 · 37 citations · Full text