Volkan Okur

TitlePostdoc Fellows and Associates
InstitutionBaylor College of Medicine
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. O'Shea SA, Hickman RA, Cortes E, Vonsattel JP, Fahn S, Okur V, Alcalay RN, Chung WK. Neuropathological Findings in a Case of Parkinsonism and Developmental Delay Associated with a Monoallelic Variant in PLXNA1. Mov Disord. 2021 Nov; 36(11):2681-2687. PMID: 34415653.
      Citations:    Fields:    
    2. Okur V, Hamm L, Kavus H, Mebane C, Robinson S, Levy B, Chung WK. Clinical and genomic characterization of 8p cytogenomic disorders. Genet Med. 2021 Jul 19. PMID: 34282301.
      Citations:    Fields:    
    3. Dworschak GC, Punetha J, Kalanithy JC, Mingardo E, Erdem HB, Akdemir ZC, Karaca E, Mitani T, Marafi D, Fatih JM, Jhangiani SN, Hunter JV, Dakal TC, Dhabhai B, Dabbagh O, Alsaif HS, Alkuraya FS, Maroofian R, Houlden H, Efthymiou S, Dominik N, Salpietro V, Sultan T, Haider S, Bibi F, Thiele H, Hoefele J, Riedhammer KM, Wagner M, Guella I, Demos M, Keren B, Buratti J, Charles P, Nava C, Héron D, Heide S, Valkanas E, Waddell LB, Jones KJ, Oates EC, Cooper ST, MacArthur D, Syrbe S, Ziegler A, Platzer K, Okur V, Chung WK, O'Shea SA, Alcalay R, Fahn S, Mark PR, Guerrini R, Vetro A, Hudson B, Schnur RE, Hoganson GE, Burton JE, McEntagart M, Lindenberg T, Yilmaz Ö, Odermatt B, Pehlivan D, Posey JE, Lupski JR, Reutter H. Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies. Genet Med. 2021 09; 23(9):1715-1725. PMID: 34054129.
      Citations: 1     Fields:    Translation:HumansAnimals
    4. Kim CY, Wirth T, Hubsch C, Németh AH, Okur V, Anheim M, Drouot N, Tranchant C, Rudolf G, Chelly J, Tatton-Brown K, Blauwendraat C, Vonsattel JPG, Cortes E, Alcalay RN, Chung WK. Reply to "PPP2R5D Genetic Mutations and Early Onset Parkinsonism". Ann Neurol. 2021 01; 89(1):195-196. PMID: 33098324.
      Citations:    Fields:    Translation:Humans
    5. Al-Deri N, Okur V, Ahimaz P, Milev M, Valivullah Z, Hagen J, Sheng Y, Chung W, Sacher M, Ganapathi M. A novel homozygous variant in TRAPPC2L results in a neurodevelopmental disorder and disrupts TRAPP complex function. J Med Genet. 2021 09; 58(9):592-601. PMID: 32843486.
      Citations: 1     Fields:    
    6. Kim CY, Wirth T, Hubsch C, Németh AH, Okur V, Anheim M, Drouot N, Tranchant C, Rudolf G, Chelly J, Tatton-Brown K, Blauwendraat C, Vonsattel JPG, Cortes E, Alcalay RN, Chung WK. Early-Onset Parkinsonism Is a Manifestation of the PPP2R5D p.E200K Mutation. Ann Neurol. 2020 11; 88(5):1028-1033. PMID: 32743835.
      Citations: 1     Fields:    Translation:Humans
    7. Chilton I, Okur V, Vitiello G, Selicorni A, Mariani M, Goldenberg A, Husson T, Campion D, Lichtenbelt KD, van Gassen K, Steinraths M, Rice J, Roeder ER, Littlejohn RO, Srour M, Sebire G, Accogli A, Héron D, Heide S, Nava C, Depienne C, Larson A, Niyazov D, Azage M, Hoganson G, Burton J, Rush ET, Jenkins JL, Saunders CJ, Thiffault I, Alaimo JT, Fleischer J, Groepper D, Gripp KW, Chung WK. De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype. Am J Med Genet A. 2020 05; 182(5):962-973. PMID: 32031333.
      Citations:    Fields:    Translation:HumansCells
    8. Okur V, Watschinger K, Niyazov D, McCarrier J, Basel D, Hermann M, Werner ER, Chung WK. Biallelic variants in AGMO with diminished enzyme activity are associated with a neurodevelopmental disorder. Hum Genet. 2019 Dec; 138(11-12):1259-1266. PMID: 31555905.
      Citations: 4     Fields:    Translation:HumansCells
    9. Craddock KE, Okur V, Wilson A, Gerkes EH, Ramsey K, Heeley JM, Juusola J, Vitobello A, Dupeyron MB, Faivre L, Chung WK. Clinical and genetic characterization of individuals with predicted deleterious PHIP variants. Cold Spring Harb Mol Case Stud. 2019 08; 5(4). PMID: 31167805.
      Citations: 2     Fields:    Translation:Humans
    10. Okur V, LeDuc CA, Guzman E, Valivullah ZM, Anyane-Yeboa K, Chung WK. Homozygous noncanonical splice variant in LSM1 in two siblings with multiple congenital anomalies and global developmental delay. Cold Spring Harb Mol Case Stud. 2019 06; 5(3). PMID: 31010896.
      Citations: 2     Fields:    Translation:HumansAnimalsCells
    11. Okur V, Cho MT, van Wijk R, van Oirschot B, Picker J, Coury SA, Grange D, Manwaring L, Krantz I, Muraresku CC, Hulick PJ, May H, Pierce E, Place E, Bujakowska K, Telegrafi A, Douglas G, Monaghan KG, Begtrup A, Wilson A, Retterer K, Anyane-Yeboa K, Chung WK. De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment. Eur J Hum Genet. 2019 07; 27(7):1081-1089. PMID: 30778173.
      Citations: 3     Fields:    Translation:HumansCellsCTClinical Trials
    12. Ganapathi M, Padgett LR, Yamada K, Devinsky O, Willaert R, Person R, Au PB, Tagoe J, McDonald M, Karlowicz D, Wolf B, Lee J, Shen Y, Okur V, Deng L, LeDuc CA, Wang J, Hanner A, Mirmira RG, Park MH, Mastracci TL, Chung WK. Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder. Am J Hum Genet. 2019 02 07; 104(2):287-298. PMID: 30661771.
      Citations: 6     Fields:    Translation:HumansCells
    13. Okur V, Ganapathi M, Wilson A, Chung WK. Biallelic variants in VARS in a family with two siblings with intellectual disability and microcephaly: case report and review of the literature. Cold Spring Harb Mol Case Stud. 2018 10; 4(5). PMID: 30275004.
      Citations: 2     Fields:    Translation:Humans
    14. Okur V, Nees S, Chung WK, Krishnan U. Pulmonary hypertension in patients with 9q34.3 microdeletion-associated Kleefstra syndrome. Am J Med Genet A. 2018 08; 176(8):1773-1777. PMID: 30063093.
      Citations:    Translation:HumansCells
    15. Okur V, Chung WK. The impact of hereditary cancer gene panels on clinical care and lessons learned. Cold Spring Harb Mol Case Stud. 2017 Nov; 3(6). PMID: 29162654.
      Citations: 12     Fields:    Translation:Humans
    16. Okur V, Cho MT, Henderson L, Retterer K, Schneider M, Sattler S, Niyazov D, Azage M, Smith S, Picker J, Lincoln S, Tarnopolsky M, Brady L, Bjornsson HT, Applegate C, Dameron A, Willaert R, Baskin B, Juusola J, Chung WK. De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features. Hum Genet. 2016 07; 135(7):699-705. PMID: 27048600.
      Citations: 14     Fields:    Translation:Humans
    17. Karacasu M, Okur V, Er A. A study on the rheological properties of recycled rubber-modified asphalt mixtures. ScientificWorldJournal. 2015; 2015:258586. PMID: 25695096.
      Citations:    Fields:    
    18. Okur V, Cetin O, Cetin E, Tepeli E, Bulgu Y, Yildirim C. HIF1A as a major vascular endothelial growth factor regulator: do its polymorphisms have an association with age-related macular degeneration? Clin Exp Ophthalmol. 2015 Jan-Feb; 43(1):47-53. PMID: 24995509.
      Citations: 1     Fields:    Translation:Humans
    19. Semerci CN, Kalay E, Yildirim C, Dinçer T, Olmez A, Toraman B, Koçyigit A, Bulgu Y, Okur V, Satiroglu-Tufan L, Akarsu NA. Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia. Br J Ophthalmol. 2014 Jun; 98(6):832-40. PMID: 24568872.
      Citations: 9     Fields:    Translation:HumansCells
    20. Akman M, Cebeci D, Okur V, Angin H, Abali O, Akman AC. The effects of iron deficiency on infants' developmental test performance. Acta Paediatr. 2004 Oct; 93(10):1391-6. PMID: 15499963.
      Citations: 30     Fields:    Translation:HumansCTClinical Trials
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