Evidence map›Paper›PMID 35727972›Full record

ArticleProceedings of the National Academy of Sciences of the United States of America2022

Mutations in

Guney Bademci, María Lachgar-Ruiz, Mangesh Deokar, Mohammad Faraz Zafeer, Clemer Abad, Muzeyyen Yildirim Baylan, Neil J Ingham, Jing Chen, Claire J Sineni, Nirmal Vadgama and 11 more

Open access · greenAbstract read
In one paragraph

Article in Proceedings of the National Academy of Sciences of the United States of America, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed, 1 pooled it
0.9field-weighted citation impact, top 31% of its field
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

7 citing papers in PubMed, 1 synthesis or guideline pooled it, 8 citations in OpenAlex.

  1. A Systematic Review of Genes Affecting Endocochlear Potential.Journal of the Association for Research in Otolaryngology : JARO · 2026
    Pooled it
  2. Article
  3. Article
  4. Language models reveal a complex sequence basis for adaptive convergent evolution of protein functions.Proceedings of the National Academy of Sciences of the United States of America · 2025
    Article
  5. Review
  6. Article
  7. Emerging complexities of the mouse as a model for human hearing loss.Proceedings of the National Academy of Sciences of the United States of America · 2022
    Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

21 authors at 7 institutions in 4 countries.

Guney BademciDr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, 33136.ORCID 0000-0002-4052-8833
María Lachgar-RuizWolfson Centre for Age-Related Diseases, King's College London, London, SE1 1UL, United Kingdom.ORCID 0000-0002-0285-622X
Mangesh DeokarDepartment of Pharmacology, Rajarshi Shahu College of Pharmacy, 443001 Malvihir, Buldana, India.
Mohammad Faraz ZafeerJohn P. Hussmann Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136.ORCID 0000-0001-9595-0452
Clemer AbadJohn P. Hussmann Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136.ORCID 0000-0002-9434-1337
Muzeyyen Yildirim BaylanDepartment of Otorhinolaryngology, Faculty of Medicine, Dicle University, Diyarbakir 21200, Turkey.
Neil J InghamWolfson Centre for Age-Related Diseases, King's College London, London, SE1 1UL, United Kingdom.ORCID 0000-0002-0916-7347
Jing ChenWolfson Centre for Age-Related Diseases, King's College London, London, SE1 1UL, United Kingdom.
Claire J SineniJohn P. Hussmann Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136.
Nirmal VadgamaCardiovascular Institute and Department of Cardiothoracic Surgery, Stanford University School of Medicine, Stanford, CA, 94305.
Ioannis KarakikesCardiovascular Institute and Department of Cardiothoracic Surgery, Stanford University School of Medicine, Stanford, CA, 94305.ORCID 0000-0002-4348-600X
Shengru GuoJohn P. Hussmann Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136.
Duygu DumanDepartment of Audiology, Faculty of Health Sciences, Ankara University, Ankara 06100, Turkey.ORCID 0000-0001-7583-0349
Nitu SinghOriental College of Pharmacy and Research, Oriental University, 453555 Indore, Madhya Pradesh, India.
Gaurav HarlalkaDepartment of Pharmacology, Rajarshi Shahu College of Pharmacy, 443001 Malvihir, Buldana, India.ORCID 0000-0001-8968-2447
Shirish P JainDepartment of Pharmacology, Rajarshi Shahu College of Pharmacy, 443001 Malvihir, Buldana, India.
Barry A ChiozaCollege of Medicine and Health, University of Exeter Medical School, RD&E NHS Foundation Trust, Exeter, EX2 5DW, United Kingdom.ORCID 0000-0002-3546-1726
Katherina WalzDr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, 33136.
Karen P SteelWolfson Centre for Age-Related Diseases, King's College London, London, SE1 1UL, United Kingdom.ORCID 0000-0002-8019-5359
Jamal NasirMolecular Biosciences Research Group, Faculty of Health and Society, University of Northampton, Northhampton, NN1 5PH, United Kingdom.ORCID 0000-0001-6378-5616
Mustafa TekinDr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, 33136.ORCID 0000-0002-3525-7960
University of Miami · USKing's College London · GBCardiovascular Institute of the South · USAnkara University · TRDicle University · TRUniversity of Exeter · GBUniversity of Northampton · GB

Funding

A Collaborative Search for New Genes for Non-Syndromic DeafnessR01DC009645 · NIDCD · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI MUSTAFA TEKIN · 2010 to 2026
$11.8M
Genetic Studies of Inner Ear AnomaliesR01DC012836 · NIDCD · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI TEKIN, MUSTAFA · 2013 to 2017
$3.2M
NIDCD NIH HHS R01 DC009645NIDCD NIH HHS R01 DC012836Wellcome Trust 098051
6 · The paper itself

Abstract

Discovery of deafness genes and elucidating their functions have substantially contributed to our understanding of hearing physiology and its pathologies. Here we report on DNA variants in

Indexed as

Hearing Loss, SensorineuralReceptor, Notch2Receptors, Cell SurfaceAnimalsHumansLoss of Function MutationMiceStereociliaReceptor, Notch2Receptors, Cell Surfaceautosomal recessivedeafnesshearing lossMINAR2NOTCH2

Identifiers

PMID35727972
PMCPMC9245706
OpenAlexW4283217261

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.