Publications

2025

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

QJM. 15. October 2025. doi: 10.1093/qjmed/hcaf246
Uncovering Dual Molecular Diagnoses in Families with Complex Phenotypes through Structural and Clinical Study of Novel COL4A6 Variants
Owrang D, Rad A, Cretu C, Lin SJ, Mustafa HM, Huang K, Waheed N, Hussain M, Riaz S, Preobraschenski J, Varshney GK, Oprea G, Vona B

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

MedComm. 08. September 2025. doi: 10.1002/mco2.70363
Is CABP2-Associated Hearing Loss (DFNB93) a Gene Therapy Target? Preclinical Progress and Patient Registry
Vona B, Wollnik B, Strenzke N, Pangršič T, Moser T

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

medRxiv [Preprint]. 25. August 2025. doi: 10.1101/2025.08.13.25333146
The TECTB-C225Y Variant Causing Autosomal Dominant Deafness in a Nicaraguan Family Enhances Sensitivity to Noise-Induced Hearing Loss in Mice
Hale EB, Vona B, Goodyear RJ, Osgood RT, Amr SS, Mojica K, Vera-Monroy R, Callahan K, Gudlewski KL, Quadros R, Ohtsuka M, McGee J, Walsh EJ, Morton CC, Gurumurthy C, Saunders JE, Richardson GP, Indzhykulian AA

J Neural Eng. 01. August 2025. doi: 10.1088/1741-2552/adf00f
Hearing restoration by a low-weight power-efficient multichannel optogenetic cochlear implant system
Jablonski L, Harczos T, Wolf B, Hoch G, Khurana L, Dieter A, Roos L, Hessler R, Ayub S, Ruther P, Moser T

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

STAR Protoc. 18. June 2025. doi: 10.1016/j.xpro.2025.103908
Protocol for a minigene splice assay using the pET01 vector
Andreae H, Curcio M, Owrang D, Esmaeelpour S, Jahnke F, Benseler F, Brose N, Vona B

Nat Commun. 09. April 2025. doi: 10.1038/s41467-025-58738-x
Visual target and task-critical feedback uncertainty impair different stages of reach planning in motor cortex
Amann LK, Casasnovas V, Gail A