Non-syndromic hearing loss gene identification: A brief history and glimpse into the future B Vona, I Nanda, MAH Hofrichter, W Shehata-Dieler, T Haaf Molecular and cellular probes 29 (5), 260-270, 2015 | 115 | 2015 |
DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics B Vona, MAH Hofrichter, C Neuner, J Schröder, A Gehrig, ... Clinical genetics 87 (1), 49-55, 2015 | 112 | 2015 |
Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations B Vona, T Müller, I Nanda, C Neuner, MAH Hofrichter, J Schröder, ... Genetics in Medicine 16 (12), 945-953, 2014 | 108 | 2014 |
Genetics of tinnitus: still in its infancy B Vona, I Nanda, W Shehata-Dieler, T Haaf Frontiers in neuroscience 11, 236, 2017 | 66 | 2017 |
Confirmation of GRHL2 as the gene for the DFNA28 locus B Vona, I Nanda, C Neuner, T Müller, T Haaf American Journal of Medical Genetics Part A 161 (8), 2060-2065, 2013 | 55 | 2013 |
Biallelic TANGO1 mutations cause a novel syndromal disease due to hampered cellular collagen secretion C Lekszas, O Foresti, I Raote, D Liedtke, EM König, I Nanda, B Vona, ... Elife 9, e51319, 2020 | 52 | 2020 |
SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling YC Lin, M Niceta, V Muto, B Vona, AT Pagnamenta, R Maroofian, C Beetz, ... The American Journal of Human Genetics 108 (1), 115-133, 2021 | 49 | 2021 |
Terminal chromosome 4q deletion syndrome in an infant with hearing impairment and moderate syndromic features: review of literature B Vona, I Nanda, C Neuner, J Schröder, VM Kalscheuer, ... BMC medical genetics 15, 1-7, 2014 | 44 | 2014 |
Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24 C Hedberg-Oldfors, A Abramsson, DPS Osborn, O Danielsson, ... Human Molecular Genetics 28 (11), 1919-1929, 2019 | 42 | 2019 |
Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss N Trpchevska, MB Freidin, L Broer, BC Oosterloo, S Yao, Y Zhou, B Vona, ... The American Journal of Human Genetics 109 (6), 1077-1091, 2022 | 40 | 2022 |
Age-related hearing loss pertaining to potassium ion channels in the cochlea and auditory pathway B Peixoto Pinheiro, B Vona, H Löwenheim, L Rüttiger, M Knipper, Y Adel Pflügers Archiv-European Journal of Physiology 473 (5), 823-840, 2021 | 39 | 2021 |
The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management L Tranebjærg, N Strenzke, S Lindholm, ND Rendtorff, H Poulsen, ... Human genetics 137, 111-127, 2018 | 38 | 2018 |
Recommendations on collecting and storing samples for genetic studies in hearing and tinnitus research AJ Szczepek, L Frejo, B Vona, N Trpchevska, CR Cederroth, H Caria, ... Ear and Hearing 40 (2), 219-226, 2019 | 37 | 2019 |
The Many Faces of DFNB9: Relating OTOF Variants to Hearing Impairment B Vona, A Rad, E Reisinger Genes 11 (12), 1411, 2020 | 36 | 2020 |
Confirmation of PDZD7 as a nonsyndromic hearing loss gene B Vona, S Lechno, MAH Hofrichter, S Hopf, AK Läßig, T Haaf, A Keilmann, ... Ear and hearing 37 (4), e238-e246, 2016 | 32 | 2016 |
Expanding the clinical phenotype of IARS2-related mitochondrial disease B Vona, R Maroofian, E Bellacchio, M Najafi, K Thompson, A Alahmad, ... BMC Medical Genetics 19, 1-16, 2018 | 26 | 2018 |
Small fish, big prospects: using zebrafish to unravel the mechanisms of hereditary hearing loss B Vona, J Doll, MAH Hofrichter, T Haaf, GK Varshney Hearing research 397, 107906, 2020 | 24 | 2020 |
MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss G Bademci, C Abad, A Incesulu, A Rad, O Alper, SM Kolb, FB Cengiz, ... Human genetics 137, 479-486, 2018 | 24 | 2018 |
TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia LC Tábara, F Al-Salmi, R Maroofian, AM Al-Futaisi, F Al-Murshedi, ... Brain 145 (9), 3095-3107, 2022 | 21 | 2022 |
Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation A Ziegler, R Duclaux-Loras, C Revenu, F Charbit-Henrion, B Begue, ... The American Journal of Human Genetics 108 (6), 1126-1137, 2021 | 21 | 2021 |