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Page 1
Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis.
Fenwick AL, Kliszczak M, Cooper F, Murray J, Sanchez-Pulido L, Twigg SR, Goriely A, McGowan SJ, Miller KA, Taylor IB, Logan C; WGS500 Consortium; Bozdogan S, Danda S, Dixon J, Elsayed SM, Elsobky E, Gardham A, Hoffer MJ, Koopmans M, McDonald-McGinn DM, Santen GW, Savarirayan R, de Silva D, Vanakker O, Wall SA, Wilson LC, Yuregir OO, Zackai EH, Ponting CP, Jackson AP, Wilkie AO, Niedzwiedz W, Bicknell LS. Fenwick AL, et al. Among authors: bozdogan s. Am J Hum Genet. 2016 Jul 7;99(1):125-38. doi: 10.1016/j.ajhg.2016.05.019. Epub 2016 Jun 30. Am J Hum Genet. 2016. PMID: 27374770 Free PMC article.
Contribution of genotypes in Prothrombin and Factor V Leiden to COVID-19 and disease severity in patients at high risk for hereditary thrombophilia.
Kiraz A, Sezer O, Alemdar A, Canbek S, Duman N, Bisgin A, Cora T, Ruhi HI, Ergoren MC, Geçkinli BB, Sag SO, Gözden HE, Oz O, Altıntaş ZM, Yalcıntepe S, Keskin A, Tak AY, Paskal ŞA, Yürekli UF, Demirtas M, Evren EU, Hanta A, Başdemirci M, Suer K, Balta B, Kocak N, Karabulut HG, Cobanogulları H, Ateş EA, Bozdoğan ST, Eker D, Ekinci S, Nergiz S, Tuncalı T, Yagbasan S, Alavanda C, Kutlay NY, Evren H, Erdoğan M, Altıner S, Sanlidag T, Gonen GA, Vicdan A, Eras N, Eker HK, Balasar O, Tuncel G, Dundar M, Gurkan H, Temel SG. Kiraz A, et al. Among authors: bozdogan st. J Med Virol. 2023 Feb;95(2):e28457. doi: 10.1002/jmv.28457. J Med Virol. 2023. PMID: 36597901
Plasminogen activator inhibitor-1 5G/5G genotype is associated with early spontaneous recanalization of the infarct-related artery in patients presenting with acute ST-elevation myocardial infarction.
Cagliyan CE, Yuregir OO, Balli M, Tekin K, Akilli RE, Bozdogan ST, Turkmen S, Deniz A, Baykan OA, Aslan H, Cayli M. Cagliyan CE, et al. Among authors: bozdogan st. Coron Artery Dis. 2013 May;24(3):196-200. doi: 10.1097/MCA.0b013e32835d7633. Coron Artery Dis. 2013. PMID: 23283030
Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome.
Karaca E, Yuregir OO, Bozdogan ST, Aslan H, Pehlivan D, Jhangiani SN, Akdemir ZC, Gambin T, Bayram Y, Atik MM, Erdin S, Muzny D, Gibbs RA, Lupski JR; Baylor-Hopkins Center for Mendelian Genomics. Karaca E, et al. Among authors: bozdogan st. Am J Med Genet A. 2015 Nov;167A(11):2795-9. doi: 10.1002/ajmg.a.37263. Epub 2015 Aug 4. Am J Med Genet A. 2015. PMID: 26238661 Free PMC article.
Phenotypic expansion illuminates multilocus pathogenic variation.
Karaca E, Posey JE, Coban Akdemir Z, Pehlivan D, Harel T, Jhangiani SN, Bayram Y, Song X, Bahrambeigi V, Yuregir OO, Bozdogan S, Yesil G, Isikay S, Muzny D, Gibbs RA, Lupski JR. Karaca E, et al. Among authors: bozdogan s. Genet Med. 2018 Dec;20(12):1528-1537. doi: 10.1038/gim.2018.33. Epub 2018 Apr 26. Genet Med. 2018. PMID: 29790871 Free PMC article.
Paralog Studies Augment Gene Discovery: DDX and DHX Genes.
Paine I, Posey JE, Grochowski CM, Jhangiani SN, Rosenheck S, Kleyner R, Marmorale T, Yoon M, Wang K, Robison R, Cappuccio G, Pinelli M, Magli A, Coban Akdemir Z, Hui J, Yeung WL, Wong BKY, Ortega L, Bekheirnia MR, Bierhals T, Hempel M, Johannsen J, Santer R, Aktas D, Alikasifoglu M, Bozdogan S, Aydin H, Karaca E, Bayram Y, Ityel H, Dorschner M, White JJ, Wilichowski E, Wortmann SB, Casella EB, Kitajima JP, Kok F, Monteiro F, Muzny DM, Bamshad M, Gibbs RA, Sutton VR; University of Washington Center for Mendelian Genomics, Baylor-Hopkins Center for Mendelian Genomics, Telethon Undiagnosed Diseases Program; Van Esch H, Brunetti-Pierri N, Hildebrandt F, Brautbar A, Van den Veyver IB, Glass I, Lessel D, Lyon GJ, Lupski JR. Paine I, et al. Among authors: bozdogan s. Am J Hum Genet. 2019 Aug 1;105(2):302-316. doi: 10.1016/j.ajhg.2019.06.001. Epub 2019 Jun 27. Am J Hum Genet. 2019. PMID: 31256877 Free PMC article.
Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder.
Hengel H, Hannan SB, Dyack S, MacKay SB, Schatz U, Fleger M, Kurringer A, Balousha G, Ghanim Z, Alkuraya FS, Alzaidan H, Alsaif HS, Mitani T, Bozdogan S, Pehlivan D, Lupski JR, Gleeson JJ, Dehghani M, Mehrjardi MYV, Sherr EH, Parks KC, Argilli E, Begtrup A, Galehdari H, Balousha O, Shariati G, Mazaheri N, Malamiri RA, Pagnamenta AT, Kingston H, Banka S, Jackson A, Osmond M; Care4Rare Canada Consortium; Genomics England Research Consortium; Rieß A, Haack TB, Nägele T, Schuster S, Hauser S, Admard J, Casadei N, Velic A, Macek B, Ossowski S, Houlden H, Maroofian R, Schöls L. Hengel H, et al. Among authors: bozdogan s. Am J Hum Genet. 2021 Jun 3;108(6):1069-1082. doi: 10.1016/j.ajhg.2021.04.024. Epub 2021 May 21. Am J Hum Genet. 2021. PMID: 34022130 Free PMC article.
45 results