ArticleAmerican journal of human genetics2026
Bi-allelic missense variants in human GPN2 result in Perrault syndrome.
Abstract read
In one paragraph
Article in American journal of human genetics, 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
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.
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.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
36 authors.
Thomas B SmithDivision of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology Medicine and Health, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK.
Rabia FaridiLaboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892, USA.
Leigh A M DemainDivision of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology Medicine and Health, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK.
Sayaka InagakiLaboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892, USA.
Yasuko IshibashiLaboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892, USA; Inner Ear Gene Therapy Program, NIDCD, NIH, Bethesda, MD 20892, USA.
Huw B ThomasDivision of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology Medicine and Health, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK.
Inna A BelyantsevaLaboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892, USA.
Alessandro ReaDivision of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology Medicine and Health, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK.
King Lam LaiDivision of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology Medicine and Health, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK.
Arshia MaqboolJinnah Burn and Reconstructive Surgery Centre, Allama Iqbal Medical Research Center, University of Health Sciences, Lahore 54500, Pakistan.
Bushra RaufJinnah Burn and Reconstructive Surgery Centre, Allama Iqbal Medical Research Center, University of Health Sciences, Lahore 54500, Pakistan.
Muhammad Asad UsmaniJinnah Burn and Reconstructive Surgery Centre, Allama Iqbal Medical Research Center, University of Health Sciences, Lahore 54500, Pakistan.
Alejandro A SchäfferCancer Data Science Laboratory, National Cancer Institute, Bethesda, MD 20892, USA.
Robert J MorellGenomics and Computational Biology Core, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892, USA.
Andrew GreenDepartment of Clinical Genetics, Children's Health Ireland at Crumlin, D12 N512 Dublin, Ireland.
Sondhya GhediaDepartment of Clinical Genetics, Royal North Shore Hospital, St Leonards, NSW 2065, Australia.
Mathilda WildingDepartment of Clinical Genetics, Royal North Shore Hospital, St Leonards, NSW 2065, Australia.
Robin HayDepartment of Clinical Genetics, Royal North Shore Hospital, St Leonards, NSW 2065, Australia.
Yuliya SokolovaAdvanced Imaging Core, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892, USA.
Gavin P RiordanLaboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892, USA.
Isabelle SchrauwenDepartment of Translational Neurosciences, University of Arizona College of Medicine Phoenix, Phoenix, AZ 85004, USA.
Khurram LiaqatCenter for Statistical Genetics, Gertrude H. Sergievsky Center, and the Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad 45320, Pakistan.
Saima RiazuddinDepartment of Otorhinolaryngology Head and Neck Surgery, University of Maryland School of Medicine, Baltimore, MD 21201, USA; Department of Molecular Biology and Biochemistry, School of Medicine, University of Maryland, Baltimore, MD 21201, USA.
Zubair M AhmedDepartment of Otorhinolaryngology Head and Neck Surgery, University of Maryland School of Medicine, Baltimore, MD 21201, USA; Department of Molecular Biology and Biochemistry, School of Medicine, University of Maryland, Baltimore, MD 21201, USA.
Wade W ChienInner Ear Gene Therapy Program, NIDCD, NIH, Bethesda, MD 20892, USA.
Langping HeNHS Highly Specialised Rare Mitochondrial Disorders Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE2 4HH, UK; Mitochondrial Research Group, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
Amanda McGovernGenome Editing Unit Core Facility, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PT, UK.
Helen ByersDivision of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology Medicine and Health, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK.
Glenda M BeamanDivision of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology Medicine and Health, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK.
Wasim AhmadDepartment of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad 45320, Pakistan.
Suzanne M LealCenter for Statistical Genetics, Gertrude H. Sergievsky Center, and the Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA; Taub Institute for Alzheimer's Disease and the Aging Brain, Columbia University Medical Center, New York, NY 10032, USA.
Robert W TaylorNHS Highly Specialised Rare Mitochondrial Disorders Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE2 4HH, UK; Mitochondrial Research Group, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
Sheikh RiazuddinJinnah Burn and Reconstructive Surgery Centre, Allama Iqbal Medical Research Center, University of Health Sciences, Lahore 54500, Pakistan.
Raymond T O'KeefeDivision of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology Medicine and Health, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK.
Thomas B FriedmanLaboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address: friedman@nidcd.nih.gov.
William G NewmanDivision of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology Medicine and Health, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK. Electronic address: william.newman@manchester.ac.uk.
Funding
Identification of Nonsyndromic Hearing Impairment GenesR01DC003594 · NIDCD · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI SUZANNE M LEAL · 2004 to 2026
$7.7MSYNTACTIC REPRESENTATIONSP50DC000081 · NIDCD · BOSTON UNIVERSITY MEDICAL CAMPUS · PI NAESER, MARGARET A · 1992 to 2001
$989kISOLATION OF NON SYNDROMIC HEARING LOSS GENESR29DC003594 · NIDCD · ROCKEFELLER UNIVERSITY · PI LEAL, SUZANNE MARGARET · 1998 to 2002
$345kNIDCD NIH HHS P50 DC000081NIDCD NIH HHS R01 DC003594NIDCD NIH HHS R29 DC003594
Abstract
PubMed holds no abstract for this paper.
Identifiers
What OpenQuestion holds
Textmetadata
Read underepoch 390
Registered trials
None linked
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.