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2013 2
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89 results

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Page 1
Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss.
Trpchevska N, Freidin MB, Broer L, Oosterloo BC, Yao S, Zhou Y, Vona B, Bishop C, Bizaki-Vallaskangas A, Canlon B, Castellana F, Chasman DI, Cherny S, Christensen K, Concas MP, Correa A, Elkon R; Estonian Biobank Research Team; Mengel-From J, Gao Y, Giersch ABS, Girotto G, Gudjonsson A, Gudnason V, Heard-Costa NL, Hertzano R, Hjelmborg JVB, Hjerling-Leffler J, Hoffman HJ, Kaprio J, Kettunen J, Krebs K, Kähler AK, Lallemend F, Launer LJ, Lee IM, Leonard H, Li CM, Lowenheim H, Magnusson PKE, van Meurs J, Milani L, Morton CC, Mäkitie A, Nalls MA, Nardone GG, Nygaard M, Palviainen T, Pratt S, Quaranta N, Rämö J, Saarentaus E, Sardone R, Satizabal CL, Schweinfurth JM, Seshadri S, Shiroma E, Shulman E, Simonsick E, Spankovich C, Tropitzsch A, Lauschke VM, Sullivan PF, Goedegebure A, Cederroth CR, Williams FMK, Nagtegaal AP. Trpchevska N, et al. Among authors: vona b. Am J Hum Genet. 2022 Jun 2;109(6):1077-1091. doi: 10.1016/j.ajhg.2022.04.010. Epub 2022 May 16. Am J Hum Genet. 2022. PMID: 35580588 Free PMC article.
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.
Richard EM, Bakhtiari S, Marsh APL, Kaiyrzhanov R, Wagner M, Shetty S, Pagnozzi A, Nordlie SM, Guida BS, Cornejo P, Magee H, Liu J, Norton BY, Webster RI, Worgan L, Hakonarson H, Li J, Guo Y, Jain M, Blesson A, Rodan LH, Abbott MA, Comi A, Cohen JS, Alhaddad B, Meitinger T, Lenz D, Ziegler A, Kotzaeridou U, Brunet T, Chassevent A, Smith-Hicks C, Ekstein J, Weiden T, Hahn A, Zharkinbekova N, Turnpenny P, Tucci A, Yelton M, Horvath R, Gungor S, Hiz S, Oktay Y, Lochmuller H, Zollino M, Morleo M, Marangi G, Nigro V, Torella A, Pinelli M, Amenta S, Husain RA, Grossmann B, Rapp M, Steen C, Marquardt I, Grimmel M, Grasshoff U, Korenke GC, Owczarek-Lipska M, Neidhardt J, Radio FC, Mancini C, Claps Sepulveda DJ, McWalter K, Begtrup A, Crunk A, Guillen Sacoto MJ, Person R, Schnur RE, Mancardi MM, Kreuder F, Striano P, Zara F, Chung WK, Marks WA, van Eyk CL, Webber DL, Corbett MA, Harper K, Berry JG, MacLennan AH, Gecz J, Tartaglia M, Salpietro V, Christodoulou J, Kaslin J, Padilla-Lopez S, Bilguvar K, Munchau A, Ahmed ZM, Hufnagel RB, Fahey MC, Maroofian R, Houlden H, Sticht H, Mane SM, Rad A, Vona B, Jin SC, Haack TB, Makowski C, Hirsch Y, Riazuddin S, Kruer MC. Richard EM, et al. Among authors: vona b. Am J Hum Genet. 2021 Oct 7;108(10):2006-2016. doi: 10.1016/j.ajhg.2021.08.003. Am J Hum Genet. 2021. PMID: 34626583 Free PMC article.
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Pagnamenta AT, Camps C, Giacopuzzi E, Taylor JM, Hashim M, Calpena E, Kaisaki PJ, Hashimoto A, Yu J, Sanders E, Schwessinger R, Hughes JR, Lunter G, Dreau H, Ferla M, Lange L, Kesim Y, Ragoussis V, Vavoulis DV, Allroggen H, Ansorge O, Babbs C, Banka S, Baños-Piñero B, Beeson D, Ben-Ami T, Bennett DL, Bento C, Blair E, Brasch-Andersen C, Bull KR, Cario H, Cilliers D, Conti V, Davies EG, Dhalla F, Dacal BD, Dong Y, Dunford JE, Guerrini R, Harris AL, Hartley J, Hollander G, Javaid K, Kane M, Kelly D, Kelly D, Knight SJL, Kreins AY, Kvikstad EM, Langman CB, Lester T, Lines KE, Lord SR, Lu X, Mansour S, Manzur A, Maroofian R, Marsden B, Mason J, McGowan SJ, Mei D, Mlcochova H, Murakami Y, Németh AH, Okoli S, Ormondroyd E, Ousager LB, Palace J, Patel SY, Pentony MM, Pugh C, Rad A, Ramesh A, Riva SG, Roberts I, Roy N, Salminen O, Schilling KD, Scott C, Sen A, Smith C, Stevenson M, Thakker RV, Twigg SRF, Uhlig HH, van Wijk R, Vona B, Wall S, Wang J, Watkins H, Zak J, Schuh AH, Kini U, Wilkie AOM, Popitsch N, Taylor JC. Pagnamenta AT, et al. Among authors: vona b. Genome Med. 2023 Nov 9;15(1):94. doi: 10.1186/s13073-023-01240-0. Genome Med. 2023. PMID: 37946251 Free PMC article.
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity.
Lin SJ, Vona B, Lau T, Huang K, Zaki MS, Aldeen HS, Karimiani EG, Rocca C, Noureldeen MM, Saad AK, Petree C, Bartolomaeus T, Abou Jamra R, Zifarelli G, Gotkhindikar A, Wentzensen IM, Liao M, Cork EE, Varshney P, Hashemi N, Mohammadi MH, Rad A, Neira J, Toosi MB, Knopp C, Kurth I, Challman TD, Smith R, Abdalla A, Haaf T, Suri M, Joshi M, Chung WK, Moreno-De-Luca A, Houlden H, Maroofian R, Varshney GK. Lin SJ, et al. Among authors: vona b. Genome Med. 2023 Nov 29;15(1):102. doi: 10.1186/s13073-023-01258-4. Genome Med. 2023. PMID: 38031187 Free PMC article.
Heritability and Tinnitus.
Vona B. Vona B. JAMA Otolaryngol Head Neck Surg. 2019 Mar 1;145(3):229-230. doi: 10.1001/jamaoto.2018.3946. JAMA Otolaryngol Head Neck Surg. 2019. PMID: 30653225 No abstract available.
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.
Efthymiou S, Scala M, Nagaraj V, Ochenkowska K, Komdeur FL, Liang RA, Abdel-Hamid MS, Sultan T, Barøy T, Van Ghelue M, Vona B, Maroofian R, Zafar F, Alkuraya FS, Zaki MS, Severino M, Duru KC, Tryon RC, Brauteset LV, Ansari M, Hamilton M, van Haelst MM, van Haaften G, Zara F, Houlden H, Samarut É, Nichols CG, Smeland MF, McClenaghan C. Efthymiou S, et al. Among authors: vona b. Brain. 2024 May 3;147(5):1822-1836. doi: 10.1093/brain/awae010. Brain. 2024. PMID: 38217872 Free PMC article.
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.
Kaiyrzhanov R, Rad A, Lin SJ, Bertoli-Avella A, Kallemeijn WW, Godwin A, Zaki MS, Huang K, Lau T, Petree C, Efthymiou S, Karimiani EG, Hempel M, Normand EA, Rudnik-Schöneborn S, Schatz UA, Baggelaar MP, Ilyas M, Sultan T, Alvi JR, Ganieva M, Fowler B, Aanicai R, Tayfun GA, Al Saman A, Alswaid A, Amiri N, Asilova N, Shotelersuk V, Yeetong P, Azam M, Babaei M, Monajemi GB, Mohammadi P, Samie S, Banu SH, Pinto Basto J, Kortüm F, Bauer M, Bauer P, Beetz C, Garshasbi M, Issa AH, Eyaid W, Ahmed H, Hashemi N, Hassanpour K, Herman I, Ibrohimov S, Abdul-Majeed BA, Imdad M, Isrofilov M, Kaiyal Q, Khan S, Kirmse B, Koster J, Lourenço CM, Mitani T, Moldovan O, Murphy D, Najafi M, Pehlivan D, Rocha ME, Salpietro V, Schmidts M, Shalata A, Mahroum M, Talbeya JK, Taylor RW, Vazquez D, Vetro A, Waterham HR, Zaman M, Schrader TA, Chung WK, Guerrini R, Lupski JR, Gleeson J, Suri M, Jamshidi Y, Bhatia KP, Vona B, Schrader M, Severino M, Guille M, Tate EW, Varshney GK, Houlden H, Maroofian R. Kaiyrzhanov R, et al. Among authors: vona b. Brain. 2024 Apr 4;147(4):1436-1456. doi: 10.1093/brain/awad380. Brain. 2024. PMID: 37951597 Free PMC article.
Gene therapy for deafness: are we there now?
Moser T, Chen H, Kusch K, Behr R, Vona B. Moser T, et al. Among authors: vona b. EMBO Mol Med. 2024 Apr;16(4):675-677. doi: 10.1038/s44321-024-00058-6. Epub 2024 Mar 25. EMBO Mol Med. 2024. PMID: 38528140 Free PMC article.
Genetics of Tinnitus: Still in its Infancy.
Vona B, Nanda I, Shehata-Dieler W, Haaf T. Vona B, et al. Front Neurosci. 2017 May 8;11:236. doi: 10.3389/fnins.2017.00236. eCollection 2017. Front Neurosci. 2017. PMID: 28533738 Free PMC article. Review.
89 results