Paper · 31337883

Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome.

McElreavey K and 29 others. Genet Med, 2020. Cited by 53 papers, by iCite.

11 sourcespapers-2026-11-12-0.1.0

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ConductScience Library. Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome. Papers, record 31337883. Release papers-2026-11-12-0.1.0, 12 Nov 2026. https://conductscience.org/library/papers/31337883

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Paper

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

Title: Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome.; PubMed
Journal: Genet Med; PubMed
Year: 2020; PubMed
Publication types: Journal Article, Research Support, Non-U.S. Gov't; PubMed
PubMed: https://pubmed.ncbi.nlm.nih.gov/31337883/; PubMed
DOI: https://doi.org/10.1038/s41436-019-0606-y; PubMed
PMC: https://pmc.ncbi.nlm.nih.gov/articles/PMC6944638/; PubMed
The journal: https://conductscience.org/library/journal-index/9815831; PubMed
Citations, by iCite: 53; iCite
Relative citation ratio, by iCite: 2.75; iCite
Revised in PubMed: 2024-02-14; PubMed

Authors30

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

Order	Author	Forename	ORCID iD
1	McElreavey K	Ken	https://orcid.org/0000-0001-6582-1801
2	Jorgensen A	Anne	https://orcid.org/0000-0002-6409-198X
3	Eozenou C	Caroline
4	Merel T	Tiphanie
5	Bignon-Topalovic J	Joelle
6	Tan DS	Daisylyn Senna
7	Houzelstein D	Denis	https://orcid.org/0000-0002-8536-9039
8	Buonocore F	Federica	https://orcid.org/0000-0002-8274-7241
9	Warr N	Nick	https://orcid.org/0000-0003-0767-1360
10	Kay RGG	Raissa G G

1 to 10 of 30Source PubMed

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Topics19

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

MeSH term	Major
Gonadal Dysgenesis, 46,XY	Major topic
Mutation, Missense	Major topic
RNA Helicases	Major topic
Sequence Analysis, DNA	Major topic
Testis	Major topic
Adolescent
Animals
Child, Preschool
Female
Genetic Predisposition to Disease
Heterozygote
Humans
Infant, Newborn
Male
Mice
Mutagenesis, Site-Directed
Mutation Rate
Protein Domains
Young Adult

Source PubMed

Grants4

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	Stated by
	Wellcome Trust	United Kingdom	PubMed
098513/Z/12/Z	Wellcome Trust	United Kingdom	PubMed
	Department of Health	United Kingdom	PubMed
MC_U142684167	Medical Research Council	United Kingdom	PubMed

Source PubMed

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.

References4

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

Order	PMID	Title	Journal	Year	In Papers	Source
1	1,485,186	Abnormalities of gonadal determination and differentiation.	Semin Perinatol	1992	https://conductscience.org/library/papers/1485186	PubMed
2	834,405	Embryonic testicular regression. A clinical spectrum of XY agonadal individuals.	Obstet Gynecol	1977	https://conductscience.org/library/papers/834405	PubMed
3	2,598,069	[Familial testicular regression syndrome].	Bull Acad Natl Med	1989	https://conductscience.org/library/papers/2598069	PubMed
4	8,496,317	Report of a kindred with X-linked (or autosomal dominant sex-limited) 46,XY partial gonadal dysgenesis.	J Clin Endocrinol Metab	1993	https://conductscience.org/library/papers/8496317	PubMed

Cited by41

The papers in our copy of PubMed whose reference list names this one, newest first. iCite, which reads more sources, counts 53 citations.

PMID	Title	Journal	Year	In Papers	Source
42,510,869	Novel and Known DHX37 Variants in 46,XY DSD: Expanding the Genotypic and Phenotypic Spectrum.	Genes (Basel)	2026	https://conductscience.org/library/papers/42510869	PubMed
42,151,440	DHX37 protein and mRNA expression patterns in breast and ovarian cancer and their prognostic implications.	Histochem Cell Biol	2026	https://conductscience.org/library/papers/42151440	PubMed
42,057,034	Comprehensively identifying and validating the implications of NR5A1 and DHX37 variants for 46,XY disorders of sex development diagnosis.	BMC Med Genomics	2026	https://conductscience.org/library/papers/42057034	PubMed
41,684,880	Twins With Pathogenic RNF113A Variant Presenting With Testicular Regression Syndrome.	JCEM Case Rep	2026	https://conductscience.org/library/papers/41684880	PubMed
41,535,247	Multi-omics analysis the effects of Dhx37 deficiency on testis development and nucleolar homeostasis.	Cell Death Discov	2026	https://conductscience.org/library/papers/41535247	PubMed
41,450,735	Sertoli cells as a hub in testicular development and male reproductive.	Front Cell Dev Biol	2025	https://conductscience.org/library/papers/41450735	PubMed
40,916,030	DHX37 variants in patients with 46,XY disorders or differences of sex development.	Hum Genome Var	2025	https://conductscience.org/library/papers/40916030	PubMed
40,766,295	Case Report: De novo DHX37 mutations in Saudi patients with 46,XY differences of sex development.	Front Endocrinol (Lausanne)	2025	https://conductscience.org/library/papers/40766295	PubMed
40,352,697	An XY Female.	Eur J Case Rep Intern Med	2025	https://conductscience.org/library/papers/40352697	PubMed
40,290,305	Genetic variants and molecular profiling of 46,XY gonadal dysgenesis using whole-exome sequencing.	Front Endocrinol (Lausanne)	2025	https://conductscience.org/library/papers/40290305	PubMed

1 to 10 of 41

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Genes25

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	Source
DHX37	57,647	Swiss-Prot's references	https://conductscience.org/library/genes/57647	NCBI Gene
AMH	268	PubTator's text mining	https://conductscience.org/library/genes/268	NCBI Gene
ATRX	546	PubTator's text mining	https://conductscience.org/library/genes/546	NCBI Gene
CBX2	84,733	PubTator's text mining	https://conductscience.org/library/genes/84733	NCBI Gene
CDC73	79,577	PubTator's text mining	https://conductscience.org/library/genes/79577	NCBI Gene
DHH	50,846	PubTator's text mining	https://conductscience.org/library/genes/50846	NCBI Gene
DHX16	8,449	PubTator's text mining	https://conductscience.org/library/genes/8449	NCBI Gene
DMRT1	1,761	PubTator's text mining	https://conductscience.org/library/genes/1761	NCBI Gene
EMG1	10,436	PubTator's text mining	https://conductscience.org/library/genes/10436	NCBI Gene
FGF9	2,254	PubTator's text mining	https://conductscience.org/library/genes/2254	NCBI Gene

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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

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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

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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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