Paper · 17568404

A novel splice site mutation in EYA4 causes DFNA10 hearing loss.

Hildebrand MS and 7 others. Am J Med Genet A, 2007. Cited by 36 papers, by iCite.

11 sourcespapers-2026-11-12-0.1.0

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ConductScience Library. A novel splice site mutation in EYA4 causes DFNA10 hearing loss. Papers, record 17568404. Release papers-2026-11-12-0.1.0, 12 Nov 2026. https://conductscience.org/library/papers/17568404

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Paper

PubMed's record of the paper, with iCite's citation figures. No abstract is shown.

Title: A novel splice site mutation in EYA4 causes DFNA10 hearing loss.; PubMed
Journal: Am J Med Genet A; PubMed
Year: 2007; PubMed
Publication types: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't; PubMed
PubMed: https://pubmed.ncbi.nlm.nih.gov/17568404/; PubMed
DOI: https://doi.org/10.1002/ajmg.a.31860; PubMed
The journal: https://conductscience.org/library/journal-index/101235741; PubMed
Citations, by iCite: 36; iCite
Relative citation ratio, by iCite: 0.81; iCite
Revised in PubMed: 2020-09-30; PubMed

Authors8

The authors in the order PubMed's record lists them, with the ORCID iDs it states.

Order	Author	Forename
1	Hildebrand MS	Michael S
2	Coman D	David
3	Yang T	Tao
4	Gardner RJ	R J McKinlay
5	Rose E	Elizabeth
6	Smith RJ	Richard J H
7	Bahlo M	Melanie
8	Dahl HH	Hans-Henrik M

Source PubMed

Topics17

NLM's MeSH indexing of the paper, its major topics first.

MeSH term	Major
Alternative Splicing	Major topic
Hearing Loss	Major topic
Mutation	Major topic
Trans-Activators	Major topic
Audiometry
Base Sequence
Chromosome Mapping
Chromosomes, Human, Pair 6
DNA Mutational Analysis
Family Health
Female
Genotype
Humans
Lod Score
Male
Pedigree
Polymorphism, Single Nucleotide

Source PubMed

Grants1

Each grant PubMed's record writes, matched to the NIH project NIH's grant and paper links name for this paper, and each of those links the record does not write.

Grant, as the record writes it	Agency	Country	NIH project	Stated by
R01 DC03544	NIDCD NIH HHS	United States	R01DC003544	PubMed and NIH

Source NIH RePORTER

Trials0

The trials whose ClinicalTrials.gov record lists the paper, and the trial numbers the paper's PubMed record names.

None in this release.

Comments and corrections0

PubMed's comments and corrections, NLM's own indexing: retractions first, then expressions of concern, errata and updates, and comments last.

None in this release.

References0

The papers the reference list in PubMed's record names, those in our copy of PubMed, in the list's order.

None in this release.

Cited by27

The papers in our copy of PubMed whose reference list names this one, newest first. iCite, which reads more sources, counts 36 citations.

PMID	Title	Journal	Year	In Papers	Source
39,358,765	Identification of a novel EYA4 likely pathogenic variant in a Chinese family with postlingual non-syndromic hearing loss and analysis of molecular epidemiology of EYA4 variants.	BMC Med Genomics	2024	https://conductscience.org/library/papers/39358765	PubMed
37,885,485	miR-431 secreted by human vestibular schwannomas increases the mammalian inner ear's vulnerability to noise trauma.	Front Neurol	2023	https://conductscience.org/library/papers/37885485	PubMed
37,371,710	Autosomal Dominant Non-Syndromic Hearing Loss (DFNA): A Comprehensive Narrative Review.	Biomedicines	2023	https://conductscience.org/library/papers/37371710	PubMed
35,578,334	Identification of a novel CNV at the EYA4 gene in a Chinese family with autosomal dominant nonsyndromic hearing loss.	BMC Med Genomics	2022	https://conductscience.org/library/papers/35578334	PubMed
34,956,325	Detection and Functional Verification of Noncanonical Splice Site Mutations in Hereditary Deafness.	Front Genet	2021	https://conductscience.org/library/papers/34956325	PubMed
34,847,940	A combined genome-wide association and molecular study of age-related hearing loss in H. sapiens.	BMC Med	2021	https://conductscience.org/library/papers/34847940	PubMed
34,196,366	The Eyes Absent proteins in development and in developmental disorders.	Biochem Soc Trans	2021	https://conductscience.org/library/papers/34196366	PubMed
34,014,435	Deficiency of Klc2 Induces Low-Frequency Sensorineural Hearing Loss in C57BL/6 J Mice and Human.	Mol Neurobiol	2021	https://conductscience.org/library/papers/34014435	PubMed
33,745,059	Genome-first approach to rare EYA4 variants and cardio-auditory phenotypes in adults.	Hum Genet	2021	https://conductscience.org/library/papers/33745059	PubMed
32,277,154	Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants.	Sci Rep	2020	https://conductscience.org/library/papers/32277154	PubMed

1 to 10 of 27

See all 27 cited by

Genes1

The genes the Gene search release ties to the paper: Swiss-Prot's references first, then PubTator's text mining.

Gene	NCBI Gene ID	Linked by	In Genes
EYA4	2,070	PubTator's text mining	https://conductscience.org/library/genes/2070

Source NCBI Gene

Drugs0

The drugs whose trials, in the Pipelines release, list the paper.

None in this release.

Data0

The data bank entries PubMed's record names. Trial numbers are under Trials.

None in this release.

Data dates

The date of each source this release read.

PubMed: 2026-11-06; PubMed
iCite: 2026-11-05; iCite
PMC's ID file: 2026-11-05; PMC's ID file
NIH RePORTER's grant and paper links: 2026-11-01; NIH RePORTER's grant and paper links
Trials: 2026-11-12
Gene search: 2026-11-11
Pipelines: 2026-09-18

Sources 11

ChEMBL, through Open TargetsCC BY-SA 3.0
ClinicalTrials.govNo license stated
HGNCCC0
iCiteCC BY 4.0
NCBI GenePublic domain (US government)
NIH RePORTER's grant and paper linksPublic domain
Open TargetsCC0 1.0
PMC's ID filePublic domain (US government)
PubMedNLM's terms
PubTator 3Public domain
UniProtCC BY 4.0

Each source's terms

ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
ClinicalTrials.govnone stated
HGNCCC0: https://www.genenames.org/about/license/
iCiteCC BY 4.0
NCBI GeneNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
NIH RePORTER's grant and paper linksPublic domain (NIH RePORTER)
Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
PMC's ID fileNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
PubMedNLM's terms
PubTator 3Public domain
UniProtCC BY 4.0. UniProt's licence file: "All databases and documents in the UniProt FTP directory may be copied and redistributed freely, without advance permission, provided that this copyright statement is reproduced with each copy." UniProt asks that users cite its latest paper: The UniProt Consortium, UniProt: the Universal Protein Knowledgebase in 2025, Nucleic Acids Research 53:D609-D617, https://doi.org/10.1093/nar/gkae1010. Read on 9 Nov 2026 at https://www.uniprot.org/help/license

ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.

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