Vona, Barbara

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08.12.2023

Ca2+-binding to the C2E domain of otoferlin is required for hair cell exocytosis and hearing

Authors Chen H, Monga M, Fang Q, Slitin L, Neef J, Chepurwar SS, Mingroni Netto RC, Lezirovitz K, Tabith A Jr, Benseler F, Brose N, Kusch K, Wichmann C, Strenzke N, Vona B, Preobraschenski J, Moser T Journal Protein & Cell Citation Protein & Cell. 2023 Dec 8:pwad058. accepted manuscript.
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21.11.2023

Unraveling haplotype errors in the DFNA33 locus

Authors Vona B, Regele S, Rad A, Strenzke N, Pater JA, Neumann K, Sturm M, Haack TB, Am Zehnhoff-Dinnesen AG Journal Frontiers in Genetics Citation Front. Genet. 14:1214736. Abstract Genetic heterogeneity makes it difficult to identify the causal genes for hearing loss. Studies from previous decades have mapped numerous genetic
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10.11.2023

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders

Authors Kaiyrzhanov R, Rad A, Lin SJ, Bertoli-Avella A, Kallemeijn WW, Godwin A, Zaki MS, Huang K, Lau T, Petree C, Efthymiou S, Ghayoor Karimiani E, Hempel M, Normand EA, Rudnik-Schöneborn S, Schatz UA, Baggelaar MP, Ilyas M, Sultan T, Alvi JR, Ganieva M, Fowler B, Aanicai R, Akay Tayfun
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14.09.2022

Skeletal Class III Malocclusion Is Associated with ADAMTS2 Variants and Reduced Expression in a Familial Case

Authors Yao S, Zhou X, Vona B, Fan L, Zhang C, Li D, Yuan H, Du Y, Ma L, Pan Y Journal International Journal of Molecular Sciences Citation Int J Mol Sci. 2022 Sep 14;23(18):10673. Abstract Skeletal Class III malocclusion with maxillary deficiency is a severe maxillofacial disease with unclear
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23.07.2022

GGPS1-associated muscular dystrophy with and without hearing loss

Authors Kaiyrzhanov R, Perry L, Rocca C, Zaki MS, Hosny H, Araujo Martins Moreno C, Phadke R, Zaharieva I, Camelo Gontijo C, Beetz C, Pini V, Movahedinia M, Zanoteli E, DiTroia S, Vuillaumier-Barrot S, Isapof A, Mehrjardi MYV, Ghasemi N, Sarkozy A, Muntoni F, Whalen S, Vona B, Houlden H,
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14.07.2022

Is there an unmet medical need for improved hearing restoration?

Authors Wolf BJ, Kusch K, Hunniford V, Vona B, Kühler R, Keppeler D, Strenzke N, Moser T Journal EMBO Molecular Medicine Citation EMBO Mol Med. 2022 Jul 14:e15798. Abstract Hearing impairment, the most prevalent sensory deficit, affects more than 466 million people worldwide (WHO). We presently lack causative treatment for
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11.07.2022

Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function

Authors 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
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07.07.2022

Whole genome sequencing for newborns—The devil is in the details

Authors Vona B Journal Clinicial and Translational Discovery Citation Clin Transl Dis. 2022 Jul 7. Abstract No abtract available. DOI 10.1002/ctd2.102  
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12.03.2022

Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene

Authors Pater JA, Penney C, O’Rielly DD, Griffin A, Kamal L, Brownstein Z, Vona B, Vinkler C, Shohat M, Barel O, French CR, Singh S, Werdyani S, Burt T, Abdelfatah N, Houston J, Doucette LP, Squires J, Glaser F, Roslin NM, Vincent D, Marquis P, Woodland G, Benoukraf T, Hawkey-Noble
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