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Barbara Vona
Barbara Vona
University Medical Center Göttingen
Verified email at med.uni-goettingen.de - Homepage
Title
Cited by
Cited by
Year
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
1122015
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
1092015
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
1022014
Genetics of tinnitus: still in its infancy
B Vona, I Nanda, W Shehata-Dieler, T Haaf
Frontiers in neuroscience 11, 246524, 2017
652017
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
552013
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
492020
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
442014
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
422021
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
402019
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
352021
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
342018
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
332019
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
322022
The Many Faces of DFNB9: Relating OTOF Variants to Hearing Impairment
B Vona, A Rad, E Reisinger
Genes 11 (12), 1411, 2020
312020
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
292016
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
232020
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
232018
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
232018
Diagnostic yield of targeted hearing loss gene panel sequencing in a large german cohort with a balanced age distribution from a single diagnostic center: an eight-year study
A Tropitzsch, T Schade-Mann, P Gamerdinger, S Dofek, B Schulte, ...
Ear and Hearing 43 (3), 1049-1066, 2022
192022
Non-syndromic hearing loss: clinical and diagnostic challenges
B Vona, J Doll, MAH Hofrichter, T Haaf
Medizinische genetik 32 (2), 117-129, 2020
192020
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