Confirmation of COL4A6 variants in X-linked nonsyndromic hearing loss and its clinical implications Article Swipe

PDF

Alexander O’Brien , Wen Yih Aw , Hui Yi Tee , Kaleb M. Naegeli , Güney Bademci , Mustafa Tekin , Kathleen S. Arnos , Arti Pandya ·

YOU? · · 2021 · Open Access · · DOI: https://doi.org/10.1038/s41431-021-00881-2

Related Topics

Concepts

Proband Hearing loss Genetics Phenotype Minigene Exon Biology Mutation Gene Medicine Alternative splicing Audiology

Metadata

Type: article
Language: en
Landing Page: https://doi.org/10.1038/s41431-021-00881-2
PDF: https://www.nature.com/articles/s41431-021-00881-2.pdf
OA Status: bronze
Cited By: 23
References: 33
Related Works: 10
OpenAlex ID: https://openalex.org/W3154290055

All OpenAlex metadata

Raw OpenAlex JSON

OpenAlex ID: https://openalex.org/W3154290055

Canonical identifier for this work in OpenAlex
DOI: https://doi.org/10.1038/s41431-021-00881-2

Digital Object Identifier
Title: Confirmation of COL4A6 variants in X-linked nonsyndromic hearing loss and its clinical implications

Work title
Type: article

OpenAlex work type
Language: en

Primary language
Publication year: 2021

Year of publication
Publication date: 2021-04-12

Full publication date if available
Authors: Alexander O’Brien, Wen Yih Aw, Hui Yi Tee, Kaleb M. Naegeli, Güney Bademci, Mustafa Tekin, Kathleen S. Arnos, Arti Pandya

List of authors in order
Landing page: https://doi.org/10.1038/s41431-021-00881-2

Publisher landing page
PDF URL: https://www.nature.com/articles/s41431-021-00881-2.pdf

Direct link to full text PDF
Open access: Yes

Whether a free full text is available
OA status: bronze

Open access status per OpenAlex
OA URL: https://www.nature.com/articles/s41431-021-00881-2.pdf

Direct OA link when available
Concepts: Proband, Hearing loss, Genetics, Phenotype, Minigene, Exon, Biology, Mutation, Gene, Medicine, Alternative splicing, Audiology

Top concepts (fields/topics) attached by OpenAlex
Cited by: 23

Total citation count in OpenAlex
Citations by year (recent): 2025: 7, 2024: 11, 2023: 1, 2022: 1, 2021: 3

Per-year citation counts (last 5 years)
References (count): 33

Number of works referenced by this work
Related works (count): 10

Other works algorithmically related by OpenAlex

Full payload

id	https://openalex.org/W3154290055
doi	https://doi.org/10.1038/s41431-021-00881-2
ids.doi	https://doi.org/10.1038/s41431-021-00881-2
ids.mag	3154290055
ids.pmid	https://pubmed.ncbi.nlm.nih.gov/33840813
ids.openalex	https://openalex.org/W3154290055
fwci	2.61649128
mesh[0].qualifier_ui	Q000235
mesh[0].descriptor_ui	D024141
mesh[0].is_major_topic	False
mesh[0].qualifier_name	genetics
mesh[0].descriptor_name	Collagen Type IV
mesh[1].qualifier_ui
mesh[1].descriptor_ui	D005260
mesh[1].is_major_topic	False
mesh[1].qualifier_name
mesh[1].descriptor_name	Female
mesh[2].qualifier_ui	Q000235
mesh[2].descriptor_ui	D006319
mesh[2].is_major_topic	False
mesh[2].qualifier_name	genetics
mesh[2].descriptor_name	Hearing Loss, Sensorineural
mesh[3].qualifier_ui	Q000473
mesh[3].descriptor_ui	D006319
mesh[3].is_major_topic	False
mesh[3].qualifier_name	pathology
mesh[3].descriptor_name	Hearing Loss, Sensorineural
mesh[4].qualifier_ui
mesh[4].descriptor_ui	D057898
mesh[4].is_major_topic	False
mesh[4].qualifier_name
mesh[4].descriptor_name	Hemizygote
mesh[5].qualifier_ui
mesh[5].descriptor_ui	D006801
mesh[5].is_major_topic	False
mesh[5].qualifier_name
mesh[5].descriptor_name	Humans
mesh[6].qualifier_ui
mesh[6].descriptor_ui	D008297
mesh[6].is_major_topic	False
mesh[6].qualifier_name
mesh[6].descriptor_name	Male
mesh[7].qualifier_ui
mesh[7].descriptor_ui	D020125
mesh[7].is_major_topic	False
mesh[7].qualifier_name
mesh[7].descriptor_name	Mutation, Missense
mesh[8].qualifier_ui
mesh[8].descriptor_ui	D010375
mesh[8].is_major_topic	False
mesh[8].qualifier_name
mesh[8].descriptor_name	Pedigree
mesh[9].qualifier_ui	Q000235
mesh[9].descriptor_ui	D024141
mesh[9].is_major_topic	False
mesh[9].qualifier_name	genetics
mesh[9].descriptor_name	Collagen Type IV
mesh[10].qualifier_ui
mesh[10].descriptor_ui	D005260
mesh[10].is_major_topic	False
mesh[10].qualifier_name
mesh[10].descriptor_name	Female
mesh[11].qualifier_ui	Q000235
mesh[11].descriptor_ui	D006319
mesh[11].is_major_topic	False
mesh[11].qualifier_name	genetics
mesh[11].descriptor_name	Hearing Loss, Sensorineural
mesh[12].qualifier_ui	Q000473
mesh[12].descriptor_ui	D006319
mesh[12].is_major_topic	False
mesh[12].qualifier_name	pathology
mesh[12].descriptor_name	Hearing Loss, Sensorineural
mesh[13].qualifier_ui
mesh[13].descriptor_ui	D057898
mesh[13].is_major_topic	False
mesh[13].qualifier_name
mesh[13].descriptor_name	Hemizygote
mesh[14].qualifier_ui
mesh[14].descriptor_ui	D006801
mesh[14].is_major_topic	False
mesh[14].qualifier_name
mesh[14].descriptor_name	Humans
mesh[15].qualifier_ui
mesh[15].descriptor_ui	D008297
mesh[15].is_major_topic	False
mesh[15].qualifier_name
mesh[15].descriptor_name	Male
mesh[16].qualifier_ui
mesh[16].descriptor_ui	D020125
mesh[16].is_major_topic	False
mesh[16].qualifier_name
mesh[16].descriptor_name	Mutation, Missense
mesh[17].qualifier_ui
mesh[17].descriptor_ui	D010375
mesh[17].is_major_topic	False
mesh[17].qualifier_name
mesh[17].descriptor_name	Pedigree
type	article
title	Confirmation of COL4A6 variants in X-linked nonsyndromic hearing loss and its clinical implications
awards[0].id	https://openalex.org/G8599100277
awards[0].funder_id	https://openalex.org/F4320337352
awards[0].display_name
awards[0].funder_award_id	R01DC009645
awards[0].funder_display_name	National Institute on Deafness and Other Communication Disorders
biblio.issue	1
biblio.volume	30
biblio.last_page	12
biblio.first_page	7
topics[0].id	https://openalex.org/T10831
topics[0].field.id	https://openalex.org/fields/27
topics[0].field.display_name	Medicine
topics[0].score	0.9997000098228455
topics[0].domain.id	https://openalex.org/domains/4
topics[0].domain.display_name	Health Sciences
topics[0].subfield.id	https://openalex.org/subfields/2723
topics[0].subfield.display_name	Immunology and Allergy
topics[0].display_name	Cell Adhesion Molecules Research
topics[1].id	https://openalex.org/T12610
topics[1].field.id	https://openalex.org/fields/13
topics[1].field.display_name	Biochemistry, Genetics and Molecular Biology
topics[1].score	0.9958999752998352
topics[1].domain.id	https://openalex.org/domains/1
topics[1].domain.display_name	Life Sciences
topics[1].subfield.id	https://openalex.org/subfields/1312
topics[1].subfield.display_name	Molecular Biology
topics[1].display_name	RNA regulation and disease
topics[2].id	https://openalex.org/T11480
topics[2].field.id	https://openalex.org/fields/13
topics[2].field.display_name	Biochemistry, Genetics and Molecular Biology
topics[2].score	0.9887999892234802
topics[2].domain.id	https://openalex.org/domains/1
topics[2].domain.display_name	Life Sciences
topics[2].subfield.id	https://openalex.org/subfields/1312
topics[2].subfield.display_name	Molecular Biology
topics[2].display_name	Connexins and lens biology
funders[0].id	https://openalex.org/F4320337352
funders[0].ror	https://ror.org/04mhx6838
funders[0].display_name	National Institute on Deafness and Other Communication Disorders
is_xpac	False
apc_list.value	2990
apc_list.currency	EUR
apc_list.value_usd	3690
apc_paid
concepts[0].id	https://openalex.org/C188997412
concepts[0].level	4
concepts[0].score	0.8123183250427246
concepts[0].wikidata	https://www.wikidata.org/wiki/Q1640386
concepts[0].display_name	Proband
concepts[1].id	https://openalex.org/C2780493683
concepts[1].level	2
concepts[1].score	0.7972716093063354
concepts[1].wikidata	https://www.wikidata.org/wiki/Q16035842
concepts[1].display_name	Hearing loss
concepts[2].id	https://openalex.org/C54355233
concepts[2].level	1
concepts[2].score	0.6721562147140503
concepts[2].wikidata	https://www.wikidata.org/wiki/Q7162
concepts[2].display_name	Genetics
concepts[3].id	https://openalex.org/C127716648
concepts[3].level	3
concepts[3].score	0.6205018758773804
concepts[3].wikidata	https://www.wikidata.org/wiki/Q104053
concepts[3].display_name	Phenotype
concepts[4].id	https://openalex.org/C166342232
concepts[4].level	5
concepts[4].score	0.6143094897270203
concepts[4].wikidata	https://www.wikidata.org/wiki/Q11936831
concepts[4].display_name	Minigene
concepts[5].id	https://openalex.org/C36823959
concepts[5].level	3
concepts[5].score	0.5771064758300781
concepts[5].wikidata	https://www.wikidata.org/wiki/Q373027
concepts[5].display_name	Exon
concepts[6].id	https://openalex.org/C86803240
concepts[6].level	0
concepts[6].score	0.5759819149971008
concepts[6].wikidata	https://www.wikidata.org/wiki/Q420
concepts[6].display_name	Biology
concepts[7].id	https://openalex.org/C501734568
concepts[7].level	3
concepts[7].score	0.36593097448349
concepts[7].wikidata	https://www.wikidata.org/wiki/Q42918
concepts[7].display_name	Mutation
concepts[8].id	https://openalex.org/C104317684
concepts[8].level	2
concepts[8].score	0.3551570177078247
concepts[8].wikidata	https://www.wikidata.org/wiki/Q7187
concepts[8].display_name	Gene
concepts[9].id	https://openalex.org/C71924100
concepts[9].level	0
concepts[9].score	0.2027556598186493
concepts[9].wikidata	https://www.wikidata.org/wiki/Q11190
concepts[9].display_name	Medicine
concepts[10].id	https://openalex.org/C194583182
concepts[10].level	4
concepts[10].score	0.1932685673236847
concepts[10].wikidata	https://www.wikidata.org/wiki/Q21114084
concepts[10].display_name	Alternative splicing
concepts[11].id	https://openalex.org/C548259974
concepts[11].level	1
concepts[11].score	0.1463017463684082
concepts[11].wikidata	https://www.wikidata.org/wiki/Q569965
concepts[11].display_name	Audiology
keywords[0].id	https://openalex.org/keywords/proband
keywords[0].score	0.8123183250427246
keywords[0].display_name	Proband
keywords[1].id	https://openalex.org/keywords/hearing-loss
keywords[1].score	0.7972716093063354
keywords[1].display_name	Hearing loss
keywords[2].id	https://openalex.org/keywords/genetics
keywords[2].score	0.6721562147140503
keywords[2].display_name	Genetics
keywords[3].id	https://openalex.org/keywords/phenotype
keywords[3].score	0.6205018758773804
keywords[3].display_name	Phenotype
keywords[4].id	https://openalex.org/keywords/minigene
keywords[4].score	0.6143094897270203
keywords[4].display_name	Minigene
keywords[5].id	https://openalex.org/keywords/exon
keywords[5].score	0.5771064758300781
keywords[5].display_name	Exon
keywords[6].id	https://openalex.org/keywords/biology
keywords[6].score	0.5759819149971008
keywords[6].display_name	Biology
keywords[7].id	https://openalex.org/keywords/mutation
keywords[7].score	0.36593097448349
keywords[7].display_name	Mutation
keywords[8].id	https://openalex.org/keywords/gene
keywords[8].score	0.3551570177078247
keywords[8].display_name	Gene
keywords[9].id	https://openalex.org/keywords/medicine
keywords[9].score	0.2027556598186493
keywords[9].display_name	Medicine
keywords[10].id	https://openalex.org/keywords/alternative-splicing
keywords[10].score	0.1932685673236847
keywords[10].display_name	Alternative splicing
keywords[11].id	https://openalex.org/keywords/audiology
keywords[11].score	0.1463017463684082
keywords[11].display_name	Audiology
language	en
locations[0].id	doi:10.1038/s41431-021-00881-2
locations[0].is_oa	True
locations[0].source.id	https://openalex.org/S121703463
locations[0].source.issn	1018-4813, 1476-5438
locations[0].source.type	journal
locations[0].source.is_oa	False
locations[0].source.issn_l	1018-4813
locations[0].source.is_core	True
locations[0].source.is_in_doaj	False
locations[0].source.display_name	European Journal of Human Genetics
locations[0].source.host_organization	https://openalex.org/P4310319965
locations[0].source.host_organization_name	Springer Nature
locations[0].source.host_organization_lineage	https://openalex.org/P4310319965
locations[0].source.host_organization_lineage_names	Springer Nature
locations[0].license
locations[0].pdf_url	https://www.nature.com/articles/s41431-021-00881-2.pdf
locations[0].version	publishedVersion
locations[0].raw_type	journal-article
locations[0].license_id
locations[0].is_accepted	True
locations[0].is_published	True
locations[0].raw_source_name	European Journal of Human Genetics
locations[0].landing_page_url	https://doi.org/10.1038/s41431-021-00881-2
locations[1].id	pmid:33840813
locations[1].is_oa	False
locations[1].source.id	https://openalex.org/S4306525036
locations[1].source.issn
locations[1].source.type	repository
locations[1].source.is_oa	False
locations[1].source.issn_l
locations[1].source.is_core	False
locations[1].source.is_in_doaj	False
locations[1].source.display_name	PubMed
locations[1].source.host_organization	https://openalex.org/I1299303238
locations[1].source.host_organization_name	National Institutes of Health
locations[1].source.host_organization_lineage	https://openalex.org/I1299303238
locations[1].license
locations[1].pdf_url
locations[1].version	publishedVersion
locations[1].raw_type
locations[1].license_id
locations[1].is_accepted	True
locations[1].is_published	True
locations[1].raw_source_name	European journal of human genetics : EJHG
locations[1].landing_page_url	https://pubmed.ncbi.nlm.nih.gov/33840813
locations[2].id	pmh:oai:pubmedcentral.nih.gov:8738723
locations[2].is_oa	True
locations[2].source.id	https://openalex.org/S2764455111
locations[2].source.issn
locations[2].source.type	repository
locations[2].source.is_oa	False
locations[2].source.issn_l
locations[2].source.is_core	False
locations[2].source.is_in_doaj	False
locations[2].source.display_name	PubMed Central
locations[2].source.host_organization	https://openalex.org/I1299303238
locations[2].source.host_organization_name	National Institutes of Health
locations[2].source.host_organization_lineage	https://openalex.org/I1299303238
locations[2].license
locations[2].pdf_url
locations[2].version	acceptedVersion
locations[2].raw_type	Text
locations[2].license_id
locations[2].is_accepted	True
locations[2].is_published	False
locations[2].raw_source_name	Eur J Hum Genet
locations[2].landing_page_url	https://www.ncbi.nlm.nih.gov/pmc/articles/8738723
indexed_in	crossref, pubmed
authorships[0].author.id	https://openalex.org/A5079374595
authorships[0].author.orcid	https://orcid.org/0000-0003-3917-3796
authorships[0].author.display_name	Alexander O’Brien
authorships[0].countries	US
authorships[0].affiliations[0].institution_ids	https://openalex.org/I114027177, https://openalex.org/I1333535994
authorships[0].affiliations[0].raw_affiliation_string	Department of Pediatrics, Division of Genetics and Metabolism, UNC Chapel Hill, Chapel Hill, NC, USA
authorships[0].institutions[0].id	https://openalex.org/I1333535994
authorships[0].institutions[0].ror	https://ror.org/00qz24g20
authorships[0].institutions[0].type	healthcare
authorships[0].institutions[0].lineage	https://openalex.org/I1333535994
authorships[0].institutions[0].country_code	US
authorships[0].institutions[0].display_name	University of North Carolina Health Care
authorships[0].institutions[1].id	https://openalex.org/I114027177
authorships[0].institutions[1].ror	https://ror.org/0130frc33
authorships[0].institutions[1].type	education
authorships[0].institutions[1].lineage	https://openalex.org/I114027177
authorships[0].institutions[1].country_code	US
authorships[0].institutions[1].display_name	University of North Carolina at Chapel Hill
authorships[0].author_position	first
authorships[0].raw_author_name	Alexander O’Brien
authorships[0].is_corresponding	False
authorships[0].raw_affiliation_strings	Department of Pediatrics, Division of Genetics and Metabolism, UNC Chapel Hill, Chapel Hill, NC, USA
authorships[1].author.id	https://openalex.org/A5083456746
authorships[1].author.orcid	https://orcid.org/0000-0002-1724-412X
authorships[1].author.display_name	Wen Yih Aw
authorships[1].countries	US
authorships[1].affiliations[0].institution_ids	https://openalex.org/I114027177, https://openalex.org/I1333535994
authorships[1].affiliations[0].raw_affiliation_string	UNC Catalyst For Rare Diseases, UNC Eshelman School of Pharmacy, UNC Chapel Hill, Chapel Hill, NC, USA
authorships[1].institutions[0].id	https://openalex.org/I1333535994
authorships[1].institutions[0].ror	https://ror.org/00qz24g20
authorships[1].institutions[0].type	healthcare
authorships[1].institutions[0].lineage	https://openalex.org/I1333535994
authorships[1].institutions[0].country_code	US
authorships[1].institutions[0].display_name	University of North Carolina Health Care
authorships[1].institutions[1].id	https://openalex.org/I114027177
authorships[1].institutions[1].ror	https://ror.org/0130frc33
authorships[1].institutions[1].type	education
authorships[1].institutions[1].lineage	https://openalex.org/I114027177
authorships[1].institutions[1].country_code	US
authorships[1].institutions[1].display_name	University of North Carolina at Chapel Hill
authorships[1].author_position	middle
authorships[1].raw_author_name	Wen Yih Aw
authorships[1].is_corresponding	False
authorships[1].raw_affiliation_strings	UNC Catalyst For Rare Diseases, UNC Eshelman School of Pharmacy, UNC Chapel Hill, Chapel Hill, NC, USA
authorships[2].author.id	https://openalex.org/A5080580338
authorships[2].author.orcid
authorships[2].author.display_name	Hui Yi Tee
authorships[2].countries	US
authorships[2].affiliations[0].institution_ids	https://openalex.org/I114027177, https://openalex.org/I1333535994
authorships[2].affiliations[0].raw_affiliation_string	UNC Catalyst For Rare Diseases, UNC Eshelman School of Pharmacy, UNC Chapel Hill, Chapel Hill, NC, USA
authorships[2].institutions[0].id	https://openalex.org/I1333535994
authorships[2].institutions[0].ror	https://ror.org/00qz24g20
authorships[2].institutions[0].type	healthcare
authorships[2].institutions[0].lineage	https://openalex.org/I1333535994
authorships[2].institutions[0].country_code	US
authorships[2].institutions[0].display_name	University of North Carolina Health Care
authorships[2].institutions[1].id	https://openalex.org/I114027177
authorships[2].institutions[1].ror	https://ror.org/0130frc33
authorships[2].institutions[1].type	education
authorships[2].institutions[1].lineage	https://openalex.org/I114027177
authorships[2].institutions[1].country_code	US
authorships[2].institutions[1].display_name	University of North Carolina at Chapel Hill
authorships[2].author_position	middle
authorships[2].raw_author_name	Hui Yi Tee
authorships[2].is_corresponding	False
authorships[2].raw_affiliation_strings	UNC Catalyst For Rare Diseases, UNC Eshelman School of Pharmacy, UNC Chapel Hill, Chapel Hill, NC, USA
authorships[3].author.id	https://openalex.org/A5006369163
authorships[3].author.orcid	https://orcid.org/0000-0002-7551-4108
authorships[3].author.display_name	Kaleb M. Naegeli
authorships[3].countries	US
authorships[3].affiliations[0].institution_ids	https://openalex.org/I114027177, https://openalex.org/I1333535994
authorships[3].affiliations[0].raw_affiliation_string	UNC Catalyst For Rare Diseases, UNC Eshelman School of Pharmacy, UNC Chapel Hill, Chapel Hill, NC, USA
authorships[3].institutions[0].id	https://openalex.org/I1333535994
authorships[3].institutions[0].ror	https://ror.org/00qz24g20
authorships[3].institutions[0].type	healthcare
authorships[3].institutions[0].lineage	https://openalex.org/I1333535994
authorships[3].institutions[0].country_code	US
authorships[3].institutions[0].display_name	University of North Carolina Health Care
authorships[3].institutions[1].id	https://openalex.org/I114027177
authorships[3].institutions[1].ror	https://ror.org/0130frc33
authorships[3].institutions[1].type	education
authorships[3].institutions[1].lineage	https://openalex.org/I114027177
authorships[3].institutions[1].country_code	US
authorships[3].institutions[1].display_name	University of North Carolina at Chapel Hill
authorships[3].author_position	middle
authorships[3].raw_author_name	Kaleb M. Naegeli
authorships[3].is_corresponding	False
authorships[3].raw_affiliation_strings	UNC Catalyst For Rare Diseases, UNC Eshelman School of Pharmacy, UNC Chapel Hill, Chapel Hill, NC, USA
authorships[4].author.id	https://openalex.org/A5015795915
authorships[4].author.orcid	https://orcid.org/0000-0002-4052-8833
authorships[4].author.display_name	Güney Bademci
authorships[4].countries	US
authorships[4].affiliations[0].institution_ids	https://openalex.org/I145608581, https://openalex.org/I4210131692
authorships[4].affiliations[0].raw_affiliation_string	Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL, USA
authorships[4].institutions[0].id	https://openalex.org/I4210131692
authorships[4].institutions[0].ror	https://ror.org/02vawgn43
authorships[4].institutions[0].type	other
authorships[4].institutions[0].lineage	https://openalex.org/I4210131692
authorships[4].institutions[0].country_code	US
authorships[4].institutions[0].display_name	Dr. John T. Macdonald Foundation
authorships[4].institutions[1].id	https://openalex.org/I145608581
authorships[4].institutions[1].ror	https://ror.org/02dgjyy92
authorships[4].institutions[1].type	education
authorships[4].institutions[1].lineage	https://openalex.org/I145608581
authorships[4].institutions[1].country_code	US
authorships[4].institutions[1].display_name	University of Miami
authorships[4].author_position	middle
authorships[4].raw_author_name	Guney Bademci
authorships[4].is_corresponding	False
authorships[4].raw_affiliation_strings	Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL, USA
authorships[5].author.id	https://openalex.org/A5075112348
authorships[5].author.orcid	https://orcid.org/0000-0002-3525-7960
authorships[5].author.display_name	Mustafa Tekin
authorships[5].countries	US
authorships[5].affiliations[0].institution_ids	https://openalex.org/I145608581, https://openalex.org/I4210131692
authorships[5].affiliations[0].raw_affiliation_string	Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL, USA
authorships[5].institutions[0].id	https://openalex.org/I4210131692
authorships[5].institutions[0].ror	https://ror.org/02vawgn43
authorships[5].institutions[0].type	other
authorships[5].institutions[0].lineage	https://openalex.org/I4210131692
authorships[5].institutions[0].country_code	US
authorships[5].institutions[0].display_name	Dr. John T. Macdonald Foundation
authorships[5].institutions[1].id	https://openalex.org/I145608581
authorships[5].institutions[1].ror	https://ror.org/02dgjyy92
authorships[5].institutions[1].type	education
authorships[5].institutions[1].lineage	https://openalex.org/I145608581
authorships[5].institutions[1].country_code	US
authorships[5].institutions[1].display_name	University of Miami
authorships[5].author_position	middle
authorships[5].raw_author_name	Mustafa Tekin
authorships[5].is_corresponding	False
authorships[5].raw_affiliation_strings	Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL, USA
authorships[6].author.id	https://openalex.org/A5076258777
authorships[6].author.orcid
authorships[6].author.display_name	Kathleen S. Arnos
authorships[6].countries	US
authorships[6].affiliations[0].institution_ids	https://openalex.org/I66108857
authorships[6].affiliations[0].raw_affiliation_string	Emeritus, Department of Science, Technology, & Mathematics, Gallaudet University, Washington, DC, USA
authorships[6].institutions[0].id	https://openalex.org/I66108857
authorships[6].institutions[0].ror	https://ror.org/02b9aym09
authorships[6].institutions[0].type	education
authorships[6].institutions[0].lineage	https://openalex.org/I66108857
authorships[6].institutions[0].country_code	US
authorships[6].institutions[0].display_name	Gallaudet University
authorships[6].author_position	middle
authorships[6].raw_author_name	Kathleen Arnos
authorships[6].is_corresponding	False
authorships[6].raw_affiliation_strings	Emeritus, Department of Science, Technology, & Mathematics, Gallaudet University, Washington, DC, USA
authorships[7].author.id	https://openalex.org/A5010370816
authorships[7].author.orcid	https://orcid.org/0000-0002-8889-0663
authorships[7].author.display_name	Arti Pandya
authorships[7].countries	US
authorships[7].affiliations[0].institution_ids	https://openalex.org/I114027177, https://openalex.org/I1333535994
authorships[7].affiliations[0].raw_affiliation_string	Department of Pediatrics, Division of Genetics and Metabolism, UNC Chapel Hill, Chapel Hill, NC, USA
authorships[7].institutions[0].id	https://openalex.org/I1333535994
authorships[7].institutions[0].ror	https://ror.org/00qz24g20
authorships[7].institutions[0].type	healthcare
authorships[7].institutions[0].lineage	https://openalex.org/I1333535994
authorships[7].institutions[0].country_code	US
authorships[7].institutions[0].display_name	University of North Carolina Health Care
authorships[7].institutions[1].id	https://openalex.org/I114027177
authorships[7].institutions[1].ror	https://ror.org/0130frc33
authorships[7].institutions[1].type	education
authorships[7].institutions[1].lineage	https://openalex.org/I114027177
authorships[7].institutions[1].country_code	US
authorships[7].institutions[1].display_name	University of North Carolina at Chapel Hill
authorships[7].author_position	last
authorships[7].raw_author_name	Arti Pandya
authorships[7].is_corresponding	False
authorships[7].raw_affiliation_strings	Department of Pediatrics, Division of Genetics and Metabolism, UNC Chapel Hill, Chapel Hill, NC, USA
has_content.pdf	True
has_content.grobid_xml	True
is_paratext	False
open_access.is_oa	True
open_access.oa_url	https://www.nature.com/articles/s41431-021-00881-2.pdf
open_access.oa_status	bronze
open_access.any_repository_has_fulltext	False
created_date	2025-10-10T00:00:00
display_name	Confirmation of COL4A6 variants in X-linked nonsyndromic hearing loss and its clinical implications
has_fulltext	True
is_retracted	False
updated_date	2025-11-06T03:46:38.306776
primary_topic.id	https://openalex.org/T10831
primary_topic.field.id	https://openalex.org/fields/27
primary_topic.field.display_name	Medicine
primary_topic.score	0.9997000098228455
primary_topic.domain.id	https://openalex.org/domains/4
primary_topic.domain.display_name	Health Sciences
primary_topic.subfield.id	https://openalex.org/subfields/2723
primary_topic.subfield.display_name	Immunology and Allergy
primary_topic.display_name	Cell Adhesion Molecules Research
related_works	https://openalex.org/W2057888336, https://openalex.org/W2564366248, https://openalex.org/W1989836398, https://openalex.org/W2075056041, https://openalex.org/W1991800715, https://openalex.org/W2011842392, https://openalex.org/W2129548423, https://openalex.org/W1970503178, https://openalex.org/W2313404803, https://openalex.org/W2032865024
cited_by_count	23
counts_by_year[0].year	2025
counts_by_year[0].cited_by_count	7
counts_by_year[1].year	2024
counts_by_year[1].cited_by_count	11
counts_by_year[2].year	2023
counts_by_year[2].cited_by_count	1
counts_by_year[3].year	2022
counts_by_year[3].cited_by_count	1
counts_by_year[4].year	2021
counts_by_year[4].cited_by_count	3
locations_count	3
best_oa_location.id	doi:10.1038/s41431-021-00881-2
best_oa_location.is_oa	True
best_oa_location.source.id	https://openalex.org/S121703463
best_oa_location.source.issn	1018-4813, 1476-5438
best_oa_location.source.type	journal
best_oa_location.source.is_oa	False
best_oa_location.source.issn_l	1018-4813
best_oa_location.source.is_core	True
best_oa_location.source.is_in_doaj	False
best_oa_location.source.display_name	European Journal of Human Genetics
best_oa_location.source.host_organization	https://openalex.org/P4310319965
best_oa_location.source.host_organization_name	Springer Nature
best_oa_location.source.host_organization_lineage	https://openalex.org/P4310319965
best_oa_location.source.host_organization_lineage_names	Springer Nature
best_oa_location.license
best_oa_location.pdf_url	https://www.nature.com/articles/s41431-021-00881-2.pdf
best_oa_location.version	publishedVersion
best_oa_location.raw_type	journal-article
best_oa_location.license_id
best_oa_location.is_accepted	True
best_oa_location.is_published	True
best_oa_location.raw_source_name	European Journal of Human Genetics
best_oa_location.landing_page_url	https://doi.org/10.1038/s41431-021-00881-2
primary_location.id	doi:10.1038/s41431-021-00881-2
primary_location.is_oa	True
primary_location.source.id	https://openalex.org/S121703463
primary_location.source.issn	1018-4813, 1476-5438
primary_location.source.type	journal
primary_location.source.is_oa	False
primary_location.source.issn_l	1018-4813
primary_location.source.is_core	True
primary_location.source.is_in_doaj	False
primary_location.source.display_name	European Journal of Human Genetics
primary_location.source.host_organization	https://openalex.org/P4310319965
primary_location.source.host_organization_name	Springer Nature
primary_location.source.host_organization_lineage	https://openalex.org/P4310319965
primary_location.source.host_organization_lineage_names	Springer Nature
primary_location.license
primary_location.pdf_url	https://www.nature.com/articles/s41431-021-00881-2.pdf
primary_location.version	publishedVersion
primary_location.raw_type	journal-article
primary_location.license_id
primary_location.is_accepted	True
primary_location.is_published	True
primary_location.raw_source_name	European Journal of Human Genetics
primary_location.landing_page_url	https://doi.org/10.1038/s41431-021-00881-2
publication_date	2021-04-12
publication_year	2021
referenced_works	https://openalex.org/W153986935, https://openalex.org/W2775913251, https://openalex.org/W2055242504, https://openalex.org/W2362253184, https://openalex.org/W2057662638, https://openalex.org/W2077460683, https://openalex.org/W2114495222, https://openalex.org/W1488029276, https://openalex.org/W2043730073, https://openalex.org/W2026959629, https://openalex.org/W1981750477, https://openalex.org/W2050576557, https://openalex.org/W2462549196, https://openalex.org/W2777138482, https://openalex.org/W2803065696, https://openalex.org/W2952683165, https://openalex.org/W2160995259, https://openalex.org/W1970413157, https://openalex.org/W2059145105, https://openalex.org/W2143238378, https://openalex.org/W2051978340, https://openalex.org/W2116686526, https://openalex.org/W2078566494, https://openalex.org/W2066457451, https://openalex.org/W2142524353, https://openalex.org/W2027624780, https://openalex.org/W2133310312, https://openalex.org/W1983198201, https://openalex.org/W2151377064, https://openalex.org/W2143945867, https://openalex.org/W2094975368, https://openalex.org/W2032323657, https://openalex.org/W2060216312
referenced_works_count	33
abstract_inverted_index
cited_by_percentile_year.max	99
cited_by_percentile_year.min	89
countries_distinct_count	1
institutions_distinct_count	8
sustainable_development_goals[0].id	https://metadata.un.org/sdg/3
sustainable_development_goals[0].score	0.8299999833106995
sustainable_development_goals[0].display_name	Good health and well-being
citation_normalized_percentile.value	0.86641957
citation_normalized_percentile.is_in_top_1_percent	False
citation_normalized_percentile.is_in_top_10_percent	False