Emily Bryant

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

Kathleen M. Gorman, Esther Meyer, Detelina Grozeva et al. · The American Journal of Human Genetics · 2019 · 62 citations · Full text

Molecular Neuroscience, Progressive Epilepsy-dyskinesia, Neurological Disorder +5

NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism

Hui Guo, Qiumeng Zhang, Rujia Dai et al. · The American Journal of Human Genetics · 2020 · 38 citations · Full text

Neurodevelopmental Disorders, Developmental Biology, Syndromic Autism +10

Biallelic variants in <i>CTU2</i> cause DREAM‐PL syndrome and impair thiolation of tRNA wobble U34

Ranad Shaheen, Paul R. Mark, Christopher T. Prevost et al. · Human Mutation · 2019 · 33 citations

Genetics, Dream-pl Phenotype, Genomic Mechanism +16

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

Laura Castilla‐Vallmanya, Kaja Kristine Selmer, Clémantine Dimartino et al. · Genetics in Medicine · 2020 · 32 citations · Full text

Biology, Medicine, Genetics +12

De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy

Sakshi Singh, Aditi Gupta, Michael Zech et al. · Genetics in Medicine · 2020 · 30 citations · Full text