ArticleNature communications2017
A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction.
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Article in Nature communications, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 104 papers, 5 of them syntheses that pooled it.
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104citing papers in PubMed, 5 pooled it
7.9field-weighted citation impact, top 2% of its field
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Who cites it
104 citing papers in PubMed, 5 syntheses or guidelines pooled it, 150 citations in OpenAlex.
- Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.Human genomics · 2025Pooled it
- A Systematic Review on the Role of the Stria Vascularis in Menière's Disease Pathogenesis.Journal of the Association for Research in Otolaryngology : JARO · 2025Pooled it
- Genome-wide screen of otosclerosis in population biobanks: 27 loci and shared associations with skeletal structure.Nature communications · 2023Pooled it
- Biological insights from multi-omic analysis of 31 genomic risk loci for adult hearing difficulty.PLoS genetics · 2020Pooled it
- Genome-wide association meta-analysis identifies five novel loci for age-related hearing impairment.Scientific reports · 2019Pooled it
- PALM3 and hearing loss: a potential dual diagnosis interfering with novel gene discovery.European journal of human genetics : EJHG · 2026Article
- ATP8B1-TMEM30B Flippase Activity Maintains Stereocilia Lipid Asymmetry Required for Hearing.bioRxiv : the preprint server for biology · 2026Article
- Large-scale mouse mutagenesis identifies novel genes affecting vertebral anatomy.Mammalian genome : official journal of the International Mammalian Genome Society · 2026Article
- Cross-species validation of a human age-related hearing loss candidate KLHDC7B as essential for mammalian hearing.Communications biology · 2025Article
- Intrinsic dysfunction in muscle stem cells lacking dystrophin begins during secondary myogenesis.Nature communications · 2025Article
- Identifying genetic determinants of outer retinal function in mice using a large-scale gene-targeted screen.PLoS genetics · 2025Article
- Genome-Wide Association Study of Age-Related Hearing Loss in CFW Mice Identifies Multiple Genes and Loci, Including Prkag2.Journal of the Association for Research in Otolaryngology : JARO · 2025Article
- Comprehensive genetic profiling of sensorineural hearing loss using an integrative diagnostic approach.Cell reports. Medicine · 2025Article
- Advancing precision ear medicine: leveraging animal models for disease insights and therapeutic innovations.Mammalian genome : official journal of the International Mammalian Genome Society · 2025Review
- IMPC impact on preclinical mouse models.Mammalian genome : official journal of the International Mammalian Genome Society · 2025Article
- Gene Identification for Ocular Congenital Cranial Motor Neuron Disorders Using Human Sequencing, Zebrafish Screening, and Protein Binding Microarrays.Investigative ophthalmology & visual science · 2025Article
- Biallelic variants of SEMA3F are associated with nonsyndromic hearing loss.Molecules and cells · 2025Article
- Twenty-first century mouse genetics is again at an inflection point.Lab animal · 2025Review
- Article
- Commentary: The International Mouse Phenotyping Consortium: high-throughput in vivo functional annotation of the mammalian genome.Mammalian genome : official journal of the International Mammalian Genome Society · 2024Article
44 more citing papers are in PubMed but not listed here.
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Authors and funding
50 authors at 20 institutions in 10 countries.
Michael R BowlMedical Research Council Harwell Institute (Mammalian Genetics Unit and Mary Lyon Centre), Harwell, Oxfordshire, OX11 0RD, UK.
Michelle M SimonMedical Research Council Harwell Institute (Mammalian Genetics Unit and Mary Lyon Centre), Harwell, Oxfordshire, OX11 0RD, UK.
Neil J InghamKing's College London, London, SE1 1UL, UK.
Simon GreenawayMedical Research Council Harwell Institute (Mammalian Genetics Unit and Mary Lyon Centre), Harwell, Oxfordshire, OX11 0RD, UK.
Luis SantosMedical Research Council Harwell Institute (Mammalian Genetics Unit and Mary Lyon Centre), Harwell, Oxfordshire, OX11 0RD, UK.
Heather CaterMedical Research Council Harwell Institute (Mammalian Genetics Unit and Mary Lyon Centre), Harwell, Oxfordshire, OX11 0RD, UK.
Sarah TaylorMedical Research Council Harwell Institute (Mammalian Genetics Unit and Mary Lyon Centre), Harwell, Oxfordshire, OX11 0RD, UK.
Jeremy MasonEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1 SD, UK.ORCID http://orcid.org/0000-0002-2796-5123
Natalja KurbatovaEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1 SD, UK.
Selina PearsonThe Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK.
Lynette R BowerMouse Biology Program, University of California, Davis, California, 95618, USA.
Dave A ClaryMouse Biology Program, University of California, Davis, California, 95618, USA.
Hamid MezianeCELPHEDIA, PHENOMIN, Institut Clinique de la Souris (ICS), 1 rue Laurent Fries, Illkirch-Graffenstaden, F-67404, France.
Patrick ReillyCELPHEDIA, PHENOMIN, Institut Clinique de la Souris (ICS), 1 rue Laurent Fries, Illkirch-Graffenstaden, F-67404, France.
Osamu MinowaRIKEN BioResource Center, Tsukuba, Ibaraki, 305-0074, Japan.
Lois KelseyThe Centre for Phenogenomics, Toronto, Ontario, Canada, M5T 3H7.
International Mouse Phenotyping Consortium
Glauco P Tocchini-ValentiniMonterotondo Mouse Clinic, Italian National Research Council (CNR), Institute of Cell Biology and Neurobiology, I-00015, Monterotondo Scalo, Italy.
Xiang GaoSKL of Pharmaceutical Biotechnology and Model Animal Research Center, Collaborative Innovation Center for Genetics and Development, Nanjing Biomedical Research Institute, Nanjing University, 210061, Nanjing, China.
Allan BradleyThe Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK.
William C SkarnesThe Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK.
Mark MooreIMPC, San Anselmo, California, 94960, USA.
Arthur L BeaudetDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.
Monica J JusticeThe Centre for Phenogenomics, Toronto, Ontario, Canada, M5T 3H7.
John SeavittDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.
Mary E DickinsonDepartment of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas, 77030, USA.
Wolfgang WurstInstitute of Developmental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health GmbH, Ingolstaedter Landstrasse 1, 85764, Neuherberg, Germany.
Martin Hrabe de AngelisGerman Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health GmbH, Ingolstaedter Landstrasse 1, 85764, Neuherberg, Germany.ORCID http://orcid.org/0000-0002-7898-2353
Yann HeraultCELPHEDIA, PHENOMIN, Institut Clinique de la Souris (ICS), 1 rue Laurent Fries, Illkirch-Graffenstaden, F-67404, France.ORCID http://orcid.org/0000-0001-7049-6900
Shigeharu WakanaRIKEN BioResource Center, Tsukuba, Ibaraki, 305-0074, Japan.ORCID http://orcid.org/0000-0001-8532-0924
Lauryl M J NutterThe Centre for Phenogenomics, Toronto, Ontario, Canada, M5T 3H7.
Ann M FlennikenThe Centre for Phenogenomics, Toronto, Ontario, Canada, M5T 3H7.
Colin McKerlieThe Centre for Phenogenomics, Toronto, Ontario, Canada, M5T 3H7.ORCID http://orcid.org/0000-0002-2232-0967
Stephen A MurrayThe Jackson Laboratory, Bar Harbor, Maine, 04609, USA.
Karen L SvensonThe Jackson Laboratory, Bar Harbor, Maine, 04609, USA.
Robert E BraunThe Jackson Laboratory, Bar Harbor, Maine, 04609, USA.
David B WestChildrens' Hospital Oakland Research Institute, Oakland, California, 94609, USA.
K C Kent LloydMouse Biology Program, University of California, Davis, California, 95618, USA.ORCID http://orcid.org/0000-0002-5318-4144
David J AdamsThe Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK.
Jacqui WhiteThe Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK.
Natasha KarpThe Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK.
Paul FlicekEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1 SD, UK.ORCID http://orcid.org/0000-0002-3897-7955
Damian SmedleyQueen Mary University of London, London, WC1E 6BT, UK.ORCID http://orcid.org/0000-0002-5836-9850
Terrence F MeehanEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1 SD, UK.
Helen E ParkinsonEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1 SD, UK.
Lydia M TeboulMedical Research Council Harwell Institute (Mammalian Genetics Unit and Mary Lyon Centre), Harwell, Oxfordshire, OX11 0RD, UK.
Sara WellsMedical Research Council Harwell Institute (Mammalian Genetics Unit and Mary Lyon Centre), Harwell, Oxfordshire, OX11 0RD, UK.
Karen P SteelKing's College London, London, SE1 1UL, UK.
Ann-Marie MallonMedical Research Council Harwell Institute (Mammalian Genetics Unit and Mary Lyon Centre), Harwell, Oxfordshire, OX11 0RD, UK.
Steve D M BrownMedical Research Council Harwell Institute (Mammalian Genetics Unit and Mary Lyon Centre), Harwell, Oxfordshire, OX11 0RD, UK. s.brown@har.mrc.ac.uk.
Helmholtz Zentrum München · DEMount Sinai Hospital · CAInstitut Clinique de la Souris · FRMary Lyon Centre at MRC Harwell · GBNational Research Council · ITRIKEN BioResource Research Center · JPEuropean Bioinformatics Institute · GBWellcome Sanger Institute · GBBaylor College of Medicine · USJackson Laboratory · USUniversity of California, Davis · USKing's College London · GBLudwig-Maximilians-Universität München · DECentre National de la Recherche Scientifique · FREnZinc (United States) · USHeidelberg University · DEInstitute of Medical Microbiology and Hygiene · DELeibniz-Institute for Food Systems Biology at the Technical University of Munich · DEModel Animal Research Center · CNQueen Mary University of London · GB
Funding
UM1HG006348: Cas9 Genome Integrity Supplemental ProposalUM1HG006348 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI Jason D. Heaney, Chih-Wei Logan Hsu · 2016 to 2026
$47.5MThe Jackson Laboratory Knockout Mouse Production and Phenotyping Project (JAX KOMP2)UM1OD023222 · OD · JACKSON LABORATORY · PI ROBERT E BRAUN, Stephen A Murray · 2016 to 2026
$47.2MKOMP2-Phase3 Production and Phenotyping by the DTCC Consortium TCP Transfer to UC DavisUM1OD023221 · OD · UNIVERSITY OF CALIFORNIA AT DAVIS · PI KC KENT LLOYD · 2016 to 2026
$45.7MUCD Mutant Mouse Regional Resource CenterU42OD012210 · OD · UNIVERSITY OF CALIFORNIA AT DAVIS · PI KC KENT LLOYD · 2012 to 2026
$29.2MMouse Phenotyping Informatics Infrastructure - MP12UM1HG006370 · NHGRI · EUROPEAN MOLECULAR BIOLOGY LABORATORY · PI Pilar Cacheiro Martinez, Helen Elizabeth Parkinson · 2016 to 2026
$20.4MKOMP Phase II Mouse Production and CryopreservationU42OD011175 · OD · UNIVERSITY OF CALIFORNIA AT DAVIS · PI LLOYD, KC KENT · 2012 to 2015
$18.9MHigh Throughput Production and Cryopreservation of Knockout MiceU42OD011185 · OD · JACKSON LABORATORY · PI MURRAY, STEPHEN A, TAFT, ROBERT A · 2012 to 2015
$17.9MCRSPR II Supplement: Consortium for the production and cryopreservation of knockout miceU42OD011174 · OD · BAYLOR COLLEGE OF MEDICINE · PI BEAUDET, ARTHUR L. · 2012 to 2015
$17.7MConsortium for Broad Based Disease Phenotyping of Knockout MiceU54HG006348 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI BEAUDET, ARTHUR L., PAYLOR, RICHARD E · 2011 to 2015
$17.0MKOMP Phase II Mouse PhenotypingU54HG006364 · NHGRI · UNIVERSITY OF CALIFORNIA AT DAVIS · PI LLOYD, KC KENT · 2011 to 2015
$16.3MThe Jackson Laboratory KOMP2 Phenotyping CenterU54HG006332 · NHGRI · JACKSON LABORATORY · PI BRAUN, ROBERT E, SVENSON, KAREN L · 2011 to 2015
$12.8MMouse Phenotyping Informatics Infrastruture - MP12U54HG006370 · NHGRI · EUROPEAN MOLECULAR BIOLOGY LABORATORY · PI BROWN, STEVE, FLICEK, PAUL · 2011 to 2015
$11.4MMedical Research Council G0300212Medical Research Council MC_QA137918Medical Research Council MC_U142684171Medical Research Council MC_U142684172Medical Research Council MC_U142684175Medical Research Council MC_UP_1502/1Medical Research Council MC_UP_1502/3Medical Research Council MR/N012119/1NHGRI NIH HHS U54 HG006332NHGRI NIH HHS U54 HG006348NHGRI NIH HHS U54 HG006364NHGRI NIH HHS U54 HG006370NHGRI NIH HHS UM1 HG006348NHGRI NIH HHS UM1 HG006370NIH HHS U42 OD011174NIH HHS U42 OD011175NIH HHS U42 OD011185NIH HHS U42 OD012210NIH HHS UM1 OD023221NIH HHS UM1 OD023222Wellcome Trust
Abstract
The developmental and physiological complexity of the auditory system is likely reflected in the underlying set of genes involved in auditory function. In humans, over 150 non-syndromic loci have been identified, and there are more than 400 human genetic syndromes with a hearing loss component. Over 100 non-syndromic hearing loss genes have been identified in mouse and human, but we remain ignorant of the full extent of the genetic landscape involved in auditory dysfunction. As part of the International Mouse Phenotyping Consortium, we undertook a hearing loss screen in a cohort of 3006 mouse knockout strains. In total, we identify 67 candidate hearing loss genes. We detect known hearing loss genes, but the vast majority, 52, of the candidate genes were novel. Our analysis reveals a large and unexplored genetic landscape involved with auditory function.The full extent of the genetic basis for hearing impairment is unknown. Here, as part of the International Mouse Phenotyping Consortium, the authors perform a hearing loss screen in 3006 mouse knockout strains and identify 52 new candidate genes for genetic hearing loss.
Indexed as
AnimalsDatasets as TopicGenetic TestingHearing LossHearing TestsMiceMice, KnockoutPhenotypeProtein Interaction Maps
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