Volkan Okur

Volkan Okur

New York Genome Center - New York / United States
Natural Sciences / Molecular Biology & Genetics
AD Scientific Index ID: 5644802
person_outline Volkan Okur's MOST POPULAR ARTICLES
1-) De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic featuresV Okur, MT Cho, L Henderson, K Retterer, M Schneider, S Sattler, ...Human genetics 135, 699-705, 2016772016
2-) Recessive rare variants in deoxyhypusine synthase, an enzyme involved in the synthesis of hypusine, are associated with a neurodevelopmental disorderM Ganapathi, LR Padgett, K Yamada, O Devinsky, R Willaert, R Person, ...The American Journal of Human Genetics 104 (2), 287-298, 2019552019
3-) The impact of hereditary cancer gene panels on clinical care and lessons learnedV Okur, WK ChungMolecular Case Studies 3 (6), a002154, 2017502017
4-) Early‐Onset Parkinsonism Is a Manifestation of the PPP2R5D p.E200K MutationCY Kim, T Wirth, C Hubsch, AH Németh, V Okur, M Anheim, N Drouot, ...Annals of neurology 88 (5), 1028-1033, 2020432020
5-) Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomaliesGC Dworschak, J Punetha, JC Kalanithy, E Mingardo, HB Erdem, ...Genetics in Medicine 23 (9), 1715-1725, 2021312021