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Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function.
Lin SJ, Vona B, Porter HM, Izadi M, Huang K, Lacassie Y, Rosenfeld JA, Khan S, Petree C, Ali TA, Muhammad N, Khan SA, Muhammad N, Liu P, Haymon ML, Rüschendorf F, Kong IK, Schnapp L, Shur N, Chorich L, Layman L, Haaf T, Pourkarimi E, Kim HG, Varshney GK. Lin SJ, et al. Among authors: haaf t. Hum Mutat. 2022 Oct;43(10):1472-1489. doi: 10.1002/humu.24435. Epub 2022 Jul 21. Hum Mutat. 2022. PMID: 35815345
Confirmation of GRHL2 as the gene for the DFNA28 locus.
Vona B, Nanda I, Neuner C, Müller T, Haaf T. Vona B, et al. Among authors: haaf t. Am J Med Genet A. 2013 Aug;161A(8):2060-5. doi: 10.1002/ajmg.a.36017. Epub 2013 Jun 27. Am J Med Genet A. 2013. PMID: 23813623 Free PMC article.
Confirmation of PDZD7 as a Nonsyndromic Hearing Loss Gene.
Vona B, Lechno S, Hofrichter MA, Hopf S, Läig AK, Haaf T, Keilmann A, Zechner U, Bartsch O. Vona B, et al. Among authors: haaf t. Ear Hear. 2016 Jul-Aug;37(4):e238-46. doi: 10.1097/AUD.0000000000000278. Ear Hear. 2016. PMID: 26849169
Genetics of Tinnitus: Still in its Infancy.
Vona B, Nanda I, Shehata-Dieler W, Haaf T. Vona B, et al. Among authors: haaf t. Front Neurosci. 2017 May 8;11:236. doi: 10.3389/fnins.2017.00236. eCollection 2017. Front Neurosci. 2017. PMID: 28533738 Free PMC article. Review.
Hereditary hearing loss SNP-microarray pilot study.
Vona B, Hofrichter MAH, Schröder J, Shehata-Dieler W, Nanda I, Haaf T. Vona B, et al. Among authors: haaf t. BMC Res Notes. 2018 Jun 14;11(1):391. doi: 10.1186/s13104-018-3466-7. BMC Res Notes. 2018. PMID: 29903040 Free PMC article.
348 results