James R. Lupski

Frequency of Nonallelic Homologous Recombination Is Correlated with Length of Homology: Evidence that Ectopic Synapsis Precedes Ectopic Crossing-Over

Pengfei Liu, Melanie Lacaria, Feng Zhang et al. · The American Journal of Human Genetics · 2011 · 134 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder

Davor Lessel, Claudia Schob, Sébastien Küry et al. · The American Journal of Human Genetics · 2017 · 109 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Translation of SOX10 3' untranslated region causes a complex severe neurocristopathy by generation of a deleterious functional domain

Ken Inoue, Tomoko Ohyama, Y. Sakuragi et al. · Human Molecular Genetics · 2007 · 34 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16