Publications
2026
medRxiv [Preprint]. 21. April 2026. doi: 10.64898/2026.04.20.26351093
PALM3 and hearing loss: a potential dual diagnosis interfering with novel gene discovery
Najarzadeh Torbati P, Hallbrucker L, Hofrichter MAH, Owrang D, Setzke J, Kilimann MW, Hemmatpour A, Rajati M, Karimiani EG, Haaf T, Vogl C, Vona B
bioRxiv [Preprint]. 18. April 2026.
The vacuolar tauopathy-associated mutation D395G confers redox sensitivity to p97/VCP Rout SR, Kulke M, Droemer M, Wendel M, Cheng TC, Mauck TA, Asgari S, Nemec AA, Shein M, Sato Y, Fukai S, Witte G, Tomko Jr. RJ, Stengel F, Zacharias M, Schuetz AK, Sakata E
Mol Med. 07. April 2026. doi: 10.1186/s10020-026-01431-6
Clinical and genetic heterogeneity of syndromic hearing loss and its non-syndromic hearing loss mimics
Koparir A, Carbajal PB, Zamini M, Naghinejad M, Najarzadeh Torbati P, Hofrichter MAH, Tovornik S, Koparir E, Dragicevic Babic N, Rad A, Owrang D, Kalay I, Chamanrou N, Martinez Völter LN, Christophersen N, Baranzehi T, Rajati M, Loum S, Kunstmann E, Shadab M, Abbasi AA, Doosti M, Alidadiani N, Ghaderi S, Haack TB, Alavi S, Doll J, Kremer H, Kordi-Tamandani DM, Murphy D, Mohammad R, Hebestreit H, Ghayoor Karimiani E, Flandin S, Linares P, Villalobos D, Houlden H, Galehdari H, Shehata-Dieler W, Maroofian R, Haaf T, Vona B
medRxiv [Preprint]. 30. March 2026. doi: 10.64898/2026.03.27.26349271
FRMPD4, a causal gene for intellectual disability and epilepsy, is associated with X-linked non-syndromic hearing loss
Liedtke D, Rak K, Schrode KM, Hehlert P, Chamanrou N, Bengl D, Katana R, Heydaran S, Doll J, Han M, Nanda I, Senthilan PR, Jürgens L, Bieniussa L, Voelker J, Neuner C, Hofrichter MAH, Schröder J, Schellens RTW, de Vrieze E, van Wijk E, Zechner U, Herms S, Hoffmann P, Müller T, Dittrich M, Bartsch O, Krawitz PM, Klopocki E, Shehata-Dieler W, Maroofian R, Wang T, Worley PF, Göpfert MC, Galehdari H, Lauer AM, Haaf T, Vona B
MedRxiv [Preprint]. 04. February 2026. doi: 10.64898/2026.01.28.26344748
XPOT Deficiency causes a human disorder through impaired tRNA nuclear export
von Hardenberg S, Niehaus I, Wiemers A, Rothoeft T, Huang K, Petree C, Schäffer V, Phillipe C, Bruel AL, Warnatz K, Zamani M, Ahmadi R, Sedaghat A, Bahram S, Sedighzadeh S, Ebrahimi S, Khalilian S, Landwehr-Kenzel S, Schwerk N, Elsayed A, Rösler J, Lin SJ, Sabu S, Strenzke N, Sogkas G, Vona B, Varshney GK, Di Donato N, Auber B
2025
EMBO Mol Med. 09. December 2025. doi: 10.1038/s44321-025-00350-z
Channelrhodopsin variants for high-rate optogenetic neurostimulation at low light intensities
Roos L, Garrido-Charles A, Albrecht N, Vavakou A, Alekseev A, Bleyer M, Thirumalai A, Mittring A, Alvanos T, Huet AT, Bamberg E, Kusch K, Wolf BJ, Moser T, Mager T
BioRxiv [Preprint]. 17. November 2025. doi: 10.1101/2025.11.16.688700
CochleaNet: deep learning-based image analysis for cochlear connectomics and gene therapy
Roos L, Miraç Diniz A, Koert E, Schilling M, Uhl M, Thirumalai A, Aakhte M, Kusch K, Huisken J, Moser T, Pape C
Sci Adv. 17. October 2025. doi: 10.1126/sciadv.ady8532
Structure and function of otoferlin, a synaptic protein of sensory hair cells essential for hearing
Chen H, Cretu C, Trebilcock A, Evdokimova N, Babai N, Feldmann L, Leidner F, Benseler F, Mutschall S, Esch K, Szabo CZK, Pena V, Pape C, Grubmüller H, Strenzke N, Brose N, Wichmann C, Preobraschenski J, Moser T
Med. 01. October 2025. doi: 10.1016/j.medj.2025.100886
International expert consensus on gene therapy for hereditary hearing loss: Based on clinical trials
Fan X, Gao Z, Zhong J, Chen Y, Chen X, Landegger LD, Moser T, Zeng FG, Sun Y, Jin X, Nash R, Chien WW, Jiang D, Greinwald JH, Bance M, Rodríguez MM, Lee SY, Feng G, Yang H, Wu CC, Xu L, Yuan W, Feng Y, Zhao Y, Vona B, Strenzke N, Beutner D, Amin N, Arwyn-Jones J, Chandrasekeharan D, Shi D, Zhang D, Yang J, Qi J, Wang Q, Yin Y, Cheng YF, Tao Y, Yu Y, Wang D, Jiang L, Guo L, Chen L, Cheng X, Cui C, Lv J, Han S, Wang W, Li Y, Gao X, Liu XZ, Zha D, Shi H, Chen B, Wang Q, Yuan H, Yang S, Yin S, Wu H, Wang Z, Li H, Rubinstein JT, Lustig LR, Chai R, Chen ZY, Shu Y
Mol Biol Cell. 28. August 2025. doi: 10.1091/mbc.E24-11-0519
SynapseNet: Deep Learning for Automatic Synapse Reconstruction
Muth S, Moschref F, Freckmann L, Mutschall S, Hojas-Garcia-Plaza I, Bahr JN, Petrovic A, Do TT, Schwarze V, Archit A, Weyand K, Michanski S, Maus L, Imig C, Hintze A, Brose N, Wichmann C, Fernandez-Busnadiego R, Moser T, Rizzoli SO, Cooper BH, Pape C
Mol Diagn Ther. 01. July 2025. doi: 10.1007/s40291-025-00782-w
Recurrent and Novel Pathogenic Variants in Genes Involved with Hearing Loss in the Pakistani Population
Shadab M, Ben-Mahmoud A, Martínez Völter LN, Abbasi AA, Ku B, Ejaz A, Latif Z, Gupta V, Owrang D, Jang MH, Zhang Z, Mohammad R, Houlden H, Kim HG, Vona B
medRxiv [Preprint]. 28. June 2025. doi: 10.1101/2025.06.26.25330137
Domain specific phenotypic expansion associated with variants in MACF1
Gogate N, Jolly A, Rosenfeld JA, Bahena-Carbajal P, Bernstein JA, Bonner D, Busa T, Cristian I, D'Souza P, Friedman J, Gorokhova S, Haaf T, Herman I, Isin UU, Jhangiani SN, Johnson I, Lenberg J, Macnamara EF, Maroofian R; Undiagnosed Diseases Network, Melissa Racobaldo; Redlich OL, Tifft C, Tos T, Vona B, Zambrano RM, Wentzensen IM, Wigby K, Pehlivan D, Gibbs RA, Lupski JR, Posey JE