Published Data Registry

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Title	Authors	Journal	Publication Year	DOI PMID
PALM3 and hearing loss: a potential dual diagnosis interfering with novel gene discovery	Najarzadeh Torbati P, Hallbrucker L, (...), Vona B	European Journal of Human Genetics	2026	10.1038/s41431-026-02206-7 42527583
A comparative survey of functional evidence use in hearing and vision loss genetics	Inan RA, DiStefano MT, (...), Vona B	Communications Medicine	2026	10.1038/s43856-026-01650-2 42218268
Molecular basis for a Ca2+ binding hierarchy in the EF-hand motifs of CaBP2	Motosugi R, Walinda E, (...), Sakata E	Journal of Biological Chemistry	2026	10.1016/j.jbc.2026.113492 42648358
Early Proteinuria as a Predictor of Renal Dysfunction following Allogeneic Hematopoietic Stem Cell Transplantation in Acute Myeloid Leukemia	Schwarz F, Westhofen G, (...), Wallbach M	Researchsquare	2026	10.21203/rs.3.rs-10732107/v1
Innervated human cardiac muscle model reveals sympathetic drivers of KCNH2-associated arrhythmias	Schneider LV, Setya MG, (...), Zafeiriou M	Nature Communications	2026	10.1038/s41467-026-76956-9 42686760
FFAR2 activation induces IL-22-dependent intestinal immune responses to suppress CNS autoimmunity	Jevtić B, Lazarević M, (...), Miljković �	EMBO Molecular Medicine	2026	10.1038/s44321-026-00517-2 42693313
Deep learning for interactive and automated inner retinal layer segmentation in OCT of patients with retinitis pigmentosa using limited training data	Laurence D, Schilling M, Grimm N, Macé E, Bemme S, Pape C	medRxiv	2026	10.64898/2026.06.16.26355668
In silico framework for benchmarking optogenetic hearing restoration	Khurana L, Nejedly P, (...), Jablonski L	Journal of Neural Engineering	2026	10.1088/1741-2552/ae9eec 42648323
Thousandfold Expansion Microscopy	Hu H, Krah D, (...), Boyden ES	bioRxiv	2026	10.64898/2026.05.31.729018
TECTB Variants Reveal Tectorial Membrane Vulnerability in Dominant Non‐Syndromic Hearing Loss	Hale EB, Vona B, (...), Indzhykulian AA	Advanced Science	2026	10.1002/advs.77543 42702881
Visual target and task-critical feedback uncertainty impair different stages of reach planning in motor cortex	Amann LK, Casasnovas V, Gail A	Nature Communications	2025	10.1038/s41467-025-58738-x 40204716
Protocol for a minigene splice assay using the pET01 vector	Andreae H, Curcio M, (...), Vona B	STAR Protocols	2025	10.1016/j.xpro.2025.103908 40536876
Domain specific phenotypic expansion associated with variants in MACF1	Gogate N, Jolly A, (...), Posey JE	medRxiv	2025	10.1101/2025.06.26.25330137 40666329
Recurrent and Novel Pathogenic Variants in Genes Involved with Hearing Loss in the Pakistani Population	Shadab M, Ben-Mahmoud A, (...), Vona B	Molecular Diagnosis & Therapy	2025	10.1007/s40291-025-00782-w 40377830
Hearing restoration by a low-weight power-efficient multichannel optogenetic cochlear implant system	Jablonski L, Harczos T, (...), Moser T	Journal of Neural Engineering	2025	10.1088/1741-2552/adf00f 40664220
Gradual recovery of auditory brainstem responses in the first DFNB9 patients with successful virus-mediated gene therapy	Vona B, Strenzke N	Med	2025	10.1016/j.medj.2025.100775 40782672
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, (...), Indzhykulian AA	medRxiv	2025	10.1101/2025.08.13.25333146 40832383
SynapseNet: Deep Learning for Automatic Synapse Reconstruction	Muth S, Moschref F, (...), Pape C	Molecular Biology of the Cell	2025	10.1091/mbc.e24-11-0519 40875337
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	MedComm	2025	10.1002/mco2.70363 40927552
Structure and function of otoferlin, a synaptic protein of sensory hair cells essential for hearing	Chen H, Cretu C, (...), Moser T	Science Advances	2025	10.1126/sciadv.ady8532 41091875
Uncovering Dual Molecular Diagnoses in Families with Complex Phenotypes through Structural and Clinical Study of Novel COL4A6 Variants	Owrang D, Rad A, (...), Vona B	QJM: An International Journal of Medicine	2025	10.1093/qjmed/hcaf246 41092388
International expert consensus on gene therapy for hereditary hearing loss: Based on clinical trials	Fan X, Gao Z, (...), Shu Y	Med	2025	10.1016/j.medj.2025.100886 41135524
Neurogenetic Disorders with Hearing Loss: Mechanisms, Classifications, and Emerging Insights.	Owrang D, Vona B	Current neurology and neuroscience reports	2025	10.1007/s11910-025-01466-y 41191133
Structure and function of otoferlin, a synaptic protein of sensory hair cells essential for hearing	Chen H, Cretu C, (...), Moser T	bioRxiv	2025	10.1101/2025.05.10.653085
CochleaNet: deep learning-based image analysis for cochlear connectomics and gene therapy	Roos L, Diniz AM, (...), Pape C	bioRxiv	2025	10.1101/2025.11.16.688700

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