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Page 1
The DNA methylation landscape of glioblastoma disease progression shows extensive heterogeneity in time and space.
Klughammer J, Kiesel B, Roetzer T, Fortelny N, Nemc A, Nenning KH, Furtner J, Sheffield NC, Datlinger P, Peter N, Nowosielski M, Augustin M, Mischkulnig M, Ströbel T, Alpar D, Ergüner B, Senekowitsch M, Moser P, Freyschlag CF, Kerschbaumer J, Thomé C, Grams AE, Stockhammer G, Kitzwoegerer M, Oberndorfer S, Marhold F, Weis S, Trenkler J, Buchroithner J, Pichler J, Haybaeck J, Krassnig S, Mahdy Ali K, von Campe G, Payer F, Sherif C, Preiser J, Hauser T, Winkler PA, Kleindienst W, Würtz F, Brandner-Kokalj T, Stultschnig M, Schweiger S, Dieckmann K, Preusser M, Langs G, Baumann B, Knosp E, Widhalm G, Marosi C, Hainfellner JA, Woehrer A, Bock C. Klughammer J, et al. Among authors: erguner b. Nat Med. 2018 Oct;24(10):1611-1624. doi: 10.1038/s41591-018-0156-x. Epub 2018 Aug 27. Nat Med. 2018. PMID: 30150718 Free PMC article.
Multimodal analysis of cell-free DNA whole-genome sequencing for pediatric cancers with low mutational burden.
Peneder P, Stütz AM, Surdez D, Krumbholz M, Semper S, Chicard M, Sheffield NC, Pierron G, Lapouble E, Tötzl M, Ergüner B, Barreca D, Rendeiro AF, Agaimy A, Boztug H, Engstler G, Dworzak M, Bernkopf M, Taschner-Mandl S, Ambros IM, Myklebost O, Marec-Bérard P, Burchill SA, Brennan B, Strauss SJ, Whelan J, Schleiermacher G, Schaefer C, Dirksen U, Hutter C, Boye K, Ambros PF, Delattre O, Metzler M, Bock C, Tomazou EM. Peneder P, et al. Among authors: erguner b. Nat Commun. 2021 May 28;12(1):3230. doi: 10.1038/s41467-021-23445-w. Nat Commun. 2021. PMID: 34050156 Free PMC article.
Identifying disease-causing mutations with privacy protection.
Akgün M, Ünal AB, Ergüner B, Pfeifer N, Kohlbacher O. Akgün M, et al. Among authors: erguner b. Bioinformatics. 2021 Jan 29;36(21):5205-5213. doi: 10.1093/bioinformatics/btaa641. Bioinformatics. 2021. PMID: 32683440 Free PMC article.
Myophosphorylase (PYGM) mutations determined by next generation sequencing in a cohort from Turkey with McArdle disease.
Inal-Gültekin G, Toptaş-Hekimoğlu B, Görmez Z, Gelişin Ö, Durmuş H, Ergüner B, Demirci H, Sağıroğlu MŞ, Parman Y, Deymeer F, Yılmaz-Aydoğan H, Pençe S, Bekircan-Kurt CE, Tan E, Erdem-Özdamar S, Üstek D, Giger U, Öztürk O, Serdaroğlu-Oflazer P. Inal-Gültekin G, et al. Among authors: erguner b. Neuromuscul Disord. 2017 Nov;27(11):997-1008. doi: 10.1016/j.nmd.2017.06.004. Epub 2017 Jun 16. Neuromuscul Disord. 2017. PMID: 28967462 Free PMC article.
TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia.
Alanay Y, Ergüner B, Utine E, Haçariz O, Kiper PO, Taşkıran EZ, Perçin F, Uz E, Sağiroğlu MŞ, Yuksel B, Boduroglu K, Akarsu NA. Alanay Y, et al. Among authors: erguner b. Am J Med Genet A. 2014 Feb;164A(2):291-304. doi: 10.1002/ajmg.a.36248. Epub 2013 Nov 5. Am J Med Genet A. 2014. PMID: 24194475 Review.
Hereditary spastic paraplegia with recessive trait caused by mutation in KLC4 gene.
Bayrakli F, Poyrazoglu HG, Yuksel S, Yakicier C, Erguner B, Sagiroglu MS, Yuceturk B, Ozer B, Doganay S, Tanrikulu B, Seker A, Akbulut F, Ozen A, Per H, Kumandas S, Altuner Torun Y, Bayri Y, Sakar M, Dagcinar A, Ziyal I. Bayrakli F, et al. Among authors: erguner b. J Hum Genet. 2015 Dec;60(12):763-8. doi: 10.1038/jhg.2015.109. Epub 2015 Oct 1. J Hum Genet. 2015. PMID: 26423925 Clinical Trial.
Mutation in MEOX1 gene causes a recessive Klippel-Feil syndrome subtype.
Bayrakli F, Guclu B, Yakicier C, Balaban H, Kartal U, Erguner B, Sagiroglu MS, Yuksel S, Ozturk AR, Kazanci B, Ozum U, Kars HZ. Bayrakli F, et al. Among authors: erguner b. BMC Genet. 2013 Sep 28;14:95. doi: 10.1186/1471-2156-14-95. BMC Genet. 2013. PMID: 24073994 Free PMC article.
20 results