Volkan Okur

Genome Sequencing for Diagnosing Rare Diseases

Monica H. Wojcik, Gabrielle Lemire, Eva Berger et al. · New England Journal of Medicine · 2024 · 144 citations · Full text

De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features

Volkan Okur, Megan T. Cho, Lindsay B. Henderson et al. · Human Genetics · 2016 · 80 citations

Neurodevelopmental Disorders, Developmental Anomaly, Developmental Biology +11

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 · 65 citations · Full text

Developmental Biology, Mendelian Disorder, Brain Development +9

Early‐Onset Parkinsonism Is a Manifestation of the <scp><i>PPP2R5D</i></scp> p.<scp>E200K</scp> Mutation

Christine Kim, Thomas Wirth, Cécile Hubsch et al. · Annals of Neurology · 2020 · 51 citations · Full text

Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies

Gabriel C. Dworschak, Jaya Punetha, Jeshurun C. Kalanithy et al. · Genetics in Medicine · 2021 · 36 citations · Full text