Evidence map›Paper›PMID 41959831›Full record

ArticlemedRxiv : the preprint server for health sciences2026

Daniel Liedtke, Kristen Rak, Katrina M Schrode, Philip Hehlert, Niloofar Chamanrou, Daniel Bengl, Radoslaw Katana, Soganad Heydaran, Julia Doll, Mei Han and 28 more

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

38 authors.

Daniel LiedtkeInstitute of Clinical Genetics and Genomic Medicine, University Hospital Würzburg, Würzburg, Germany.ORCID 0000-0003-0934-7169
Kristen RakDepartment of Oto-Rhino-Laryngology, Head and Neck Surgery and the Comprehensive Hearing Center, University Hospital Würzburg, Würzburg, Germany.ORCID 0000-0003-2109-3536
Katrina M SchrodeDepartment of Otolaryngology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Philip HehlertDepartment of Cellular Neurobiology, University of Göttingen, Göttingen, Germany.ORCID 0000-0003-3794-3267
Niloofar ChamanrouDepartment of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz 6135783151, Iran.
Daniel BenglInstitute of Clinical Genetics and Genomic Medicine, University Hospital Würzburg, Würzburg, Germany.
Radoslaw KatanaDepartment of Cellular Neurobiology, University of Göttingen, Göttingen, Germany.
Soganad HeydaranDepartment of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz 6135783151, Iran.
Julia DollInstitute of Human Genetics, Julius-Maximilians-University Würzburg, Würzburg, Germany.ORCID 0000-0002-0037-9079
Mei HanDepartment of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Indrajit NandaInstitute of Clinical Genetics and Genomic Medicine, University Hospital Würzburg, Würzburg, Germany.
Pingkalai R SenthilanNeurobiology and Genetics, Theodor-Boveri-Institute, Biocenter, Julius-Maximilians-University of Würzburg, Am Hubland, Würzburg, Germany.
Lukas JürgensDepartment of Oto-Rhino-Laryngology, Head and Neck Surgery and the Comprehensive Hearing Center, University Hospital Würzburg, Würzburg, Germany.
Linda BieniussaDepartment of Oto-Rhino-Laryngology, Head and Neck Surgery and the Comprehensive Hearing Center, University Hospital Würzburg, Würzburg, Germany.ORCID 0000-0001-8024-6681
Johannes VoelkerDepartment of Oto-Rhino-Laryngology, Head and Neck Surgery and the Comprehensive Hearing Center, University Hospital Würzburg, Würzburg, Germany.
Cordula NeunerInstitute of Human Genetics, Julius-Maximilians-University Würzburg, Würzburg, Germany.
Michaela Ah HofrichterInstitute of Clinical Genetics and Genomic Medicine, University Hospital Würzburg, Würzburg, Germany.
Jörg SchröderInstitute of Human Genetics, Julius-Maximilians-University Würzburg, Würzburg, Germany.
Renske T W SchellensDepartment of Otorhinolaryngology, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
Erik de VriezeDepartment of Otorhinolaryngology, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.ORCID 0000-0003-3448-3269
Erwin van WijkDepartment of Otorhinolaryngology, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
Ulrich ZechnerInstitute of Human Genetics, University Medical Center, Johannes Gutenberg University, Mainz, Germany.
Stefan HermsInstitute of Human Genetics, University of Bonn, Bonn, Germany.ORCID 0000-0002-2786-8200
Per HoffmannInstitute of Human Genetics, University of Bonn, Bonn, Germany.ORCID 0000-0002-6573-983X
Tobias MüllerDepartment of Bioinformatics, Biocenter, Julius-Maximilians-University Würzburg, Würzburg, Germany.
Marcus DittrichInstitute of Clinical Genetics and Genomic Medicine, University Hospital Würzburg, Würzburg, Germany.
Oliver BartschHuman Genetics Unit, Medical Care Centre, Johannes Gutenberg University Mainz, Mainz, Germany.
Peter M KrawitzInstitute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.ORCID 0000-0002-3194-8625
Eva KlopockiInstitute of Clinical Genetics and Genomic Medicine, University Hospital Würzburg, Würzburg, Germany.ORCID 0000-0003-1438-2081
Wafaa Shehata-DielerDepartment of Oto-Rhino-Laryngology, Head and Neck Surgery and the Comprehensive Hearing Center, University Hospital Würzburg, Würzburg, Germany.
Reza MaroofianDepartment of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, WC1N 3BG, UK.ORCID 0000-0001-6763-1542
Tao WangDepartment of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Paul F WorleyDepartment of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.ORCID 0000-0002-5086-614X
Martin C GöpfertDepartment of Cellular Neurobiology, University of Göttingen, Göttingen, Germany.
Hamid GalehdariDepartment of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz 6135783151, Iran.
Amanda M LauerDepartment of Otolaryngology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.ORCID 0000-0003-4184-7374
Thomas HaafInstitute of Human Genetics, Julius-Maximilians-University Würzburg, Würzburg, Germany.
Barbara VonaInstitute of Human Genetics, Julius-Maximilians-University Würzburg, Würzburg, Germany.ORCID 0000-0002-6719-3447

Funding

TRANSCRIPTIONAL MECHANISMS OF HIPPOCAMPAL AGINGP01AG009973 · NIA · UNIVERSITY OF NORTH CAROLINA CHAPEL HILL · PI JAMES J KNIERIM · 1991 to 2026
$52.4M
NIA NIH HHS P01 AG009973
6 · The paper itself

Abstract

Background: Understanding the phenotypic spectrum of disease-associated genes is essential for accurate diagnosis and targeted therapy. Methods: We performed genetic analysis in two unrelated families presenting with non-syndromic sensorineural hearing loss, identifying maternally inherited missense variants in Results: Three affected males from two unrelated families presented with prelingual, bilaterally symmetrical sensorineural hearing loss, with confirmed congenital onset in one individual and no evidence of neurodevelopmental abnormalities. Cross-species analyses demonstrated evolutionarily conserved expression of Conclusions: Our findings expand the phenotypic spectrum of

Indexed as

Drosophila modelFERM and PDZ domains containing protein 4 (FRMPD4)mouse modelnon-syndromic hearing lossnovel gene discoverysensorineural hearing lossX-linkedzebrafish model

Identifiers

PMID41959831
PMCPMC13060437

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.