Danielle Karlowicz

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia

Claire Guissart, Xénia Latypova, Paul Rollier et al. · The American Journal of Human Genetics · 2018 · 81 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder

Mythily Ganapathi, Leah R. Padgett, Kentaro Yamada et al. · The American Journal of Human Genetics · 2019 · 68 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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 · 42 citations · Full text

Medicine, Genetics, Molecular Genetics +14

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 · 33 citations · Full text

Life Sciences, Genetics, Molecular Biology +16