Kyle Retterer

Somatic Mutations in <i>UBA1</i> and Severe Adult-Onset Autoinflammatory Disease

David B. Beck, Marcela A. Ferrada, Keith A. Sikora et al. · New England Journal of Medicine · 2020 · 1.2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Clinical application of whole-exome sequencing across clinical indications

Kyle Retterer, Jane Juusola, Megan T. Cho et al. · Genetics in Medicine · 2015 · 1.1K citations · Full text

Life Sciences, Genetics, Molecular Medicine +14

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Joanna Kaplanis, Kaitlin E. Samocha, Laurens Wiel et al. · Nature · 2020 · 674 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Lot Snijders Blok, Erik Madsen, Jane Juusola et al. · The American Journal of Human Genetics · 2015 · 339 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders

Amanda Lindy, Mary Beth Stosser, Elizabeth Butler et al. · Epilepsia · 2018 · 309 citations · Full text

Life Sciences, Genetics, Epilepsy +9