| De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features V Okur, MT Cho, L Henderson, K Retterer, M Schneider, S Sattler, ... Human genetics 135, 699-705, 2016 | 73 | 2016 |
| Recessive rare variants in deoxyhypusine synthase, an enzyme involved in the synthesis of hypusine, are associated with a neurodevelopmental disorder M Ganapathi, LR Padgett, K Yamada, O Devinsky, R Willaert, R Person, ... The American Journal of Human Genetics 104 (2), 287-298, 2019 | 50 | 2019 |
| The impact of hereditary cancer gene panels on clinical care and lessons learned V Okur, WK Chung Molecular Case Studies 3 (6), a002154, 2017 | 48 | 2017 |
| Early‐Onset Parkinsonism Is a Manifestation of the PPP2R5D p.E200K Mutation CY Kim, T Wirth, C Hubsch, AH Németh, V Okur, M Anheim, N Drouot, ... Annals of neurology 88 (5), 1028-1033, 2020 | 42 | 2020 |
| Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies GC Dworschak, J Punetha, JC Kalanithy, E Mingardo, HB Erdem, ... Genetics in Medicine 23 (9), 1715-1725, 2021 | 28 | 2021 |
| De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment V Okur, MT Cho, R van Wijk, B van Oirschot, J Picker, SA Coury, ... European Journal of Human Genetics 27 (7), 1081-1089, 2019 | 24 | 2019 |
| Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia CN Semerci, E Kalay, C Yıldırım, T Dinçer, A Ölmez, B Toraman, ... British Journal of Ophthalmology 98 (6), 832-840, 2014 | 23 | 2014 |
| Clinical and genetic characterization of individuals with predicted deleterious PHIP variants KE Craddock, V Okur, A Wilson, EH Gerkes, K Ramsey, JM Heeley, ... Molecular Case Studies 5 (4), a004200, 2019 | 21 | 2019 |
| Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients NS Abul-Husn, PN Marathe, NR Kelly, KE Bonini, M Sebastin, JA Odgis, ... Genetics in Medicine 25 (9), 100880, 2023 | 16 | 2023 |
| A novel homozygous variant in TRAPPC2L results in a neurodevelopmental disorder and disrupts TRAPP complex function N Al-Deri, V Okur, P Ahimaz, M Milev, Z Valivullah, J Hagen, Y Sheng, ... Journal of medical genetics 58 (9), 592-601, 2021 | 16 | 2021 |
| Pulmonary hypertension in patients with 9q34. 3 microdeletion‐associated Kleefstra syndrome V Okur, S Nees, WK Chung, U Krishnan American Journal of Medical Genetics Part A 176 (8), 1773-1777, 2018 | 15 | 2018 |
| De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities V Okur, Z Chen, L Vossaert, S Peacock, J Rosenfeld, L Zhao, H Du, ... NPJ Genomic Medicine 6 (1), 104, 2021 | 14 | 2021 |
| De novo heterozygous missense and loss‐of‐function variants in CDC42BPB are associated with a neurodevelopmental phenotype I Chilton, V Okur, G Vitiello, A Selicorni, M Mariani, A Goldenberg, ... American Journal of Medical Genetics Part A 182 (5), 962-973, 2020 | 14 | 2020 |
| Biallelic variants in AGMO with diminished enzyme activity are associated with a neurodevelopmental disorder V Okur, K Watschinger, D Niyazov, J McCarrier, D Basel, M Hermann, ... Human Genetics 138, 1259-1266, 2019 | 13 | 2019 |
| Isolated recessive nail dysplasia caused by FZD6 mutations: report of three families and review of the literature C Kasparis, D Reid, NJ Wilson, V Okur, C Cole, CD Hansen, K Bosse, ... Clinical and Experimental Dermatology 41 (8), 884-889, 2016 | 12 | 2016 |
| Biallelic variants in VARS in a family with two siblings with intellectual disability and microcephaly: case report and review of the literature V Okur, M Ganapathi, A Wilson, WK Chung Molecular Case Studies 4 (5), a003301, 2018 | 11 | 2018 |
| Implementation of rapid genome sequencing for critically ill infants with complex congenital heart disease T Hays, R Hernan, M Disco, EL Griffin, N Goldshtrom, D Vargas, ... Circulation: Genomic and Precision Medicine 16 (5), 415-420, 2023 | 9 | 2023 |
| HIF1A as a major vascular endothelial growth factor regulator: do its polymorphisms have an association with age‐related macular degeneration? V Okur, O Cetin, E Cetin, E Tepeli, Y Bulgu, C Yildirim Clinical & experimental ophthalmology 43 (1), 47-53, 2015 | 8 | 2015 |
| Predictive functional, statistical and structural analysis of CSNK2A1 and CSNK2B variants linked to neurodevelopmental diseases P Unni, J Friend, J Weinberg, V Okur, J Hochscherf, I Dominguez Frontiers in Molecular Biosciences 9, 851547, 2022 | 7 | 2022 |
| Neuropathological Findings in a Case of Parkinsonism and Developmental Delay Associated with a Monoallelic Variant in PLXNA1 SA O'Shea, RA Hickman, E Cortes, JP Vonsattel, S Fahn, V Okur, ... Movement Disorders 36 (11), 2681-2687, 2021 | 7 | 2021 |
