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SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile

Genetics in Medicine(2022)10.1016/j.gim.2022.02.013Source: DataRank Database

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile is a research paper published in Genetics in Medicine (2022). On theSindex it has a DataRank of 0. It has been cited 36 times.

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Open Access36 citations

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gen omim refseq uniprot

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datarank_citation_only_1hop_v6· scope data_onlyMethodology

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Enrichment:Funding (10 grants)Topics (14)IDs (PubMed, PMC)Annotations (4)

FAIR Checklist

Context only (not used in score)

Findable (1/2)

Has DOI

Accessible (1/2)

Open Access

Interoperable (0/2)

Reusable (0/3)

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Authors (100)

Aidin Foroutan ORCID,Jennifer Kerkhof ORCID,Haley McConkey,Michael A. Levy ORCID,Sadegheh Haghshenas ORCID

Live enrichment

PubMed:35341651 PMC:PMC9245088

Medical Research Council

Grant: MC_PC_14089

NEI NIH HHS

Grant: R01 EY025718

NEI NIH HHS

Grant: R01 EY015518

NIH HHS

Grant: S10 OD021553

NHGRI NIH HHS

Grant: U24 HG008956

NHGRI NIH HHS

Grant: UM1 HG006493

Medical Research Council

Grant: MC_EX_MR/M009203/1

Medical Research Council

Grant: MR/M009203/1

National Institute for Health Research (NIHR)

Grant: NF-SI-0512-10113

National Institute for Health Research (NIHR)

Grant: NF-SI-0617-10154

MeSH Terms

HumansKlinefelter SyndromeHypogonadismDNA MethylationPhenotypeSOXC Transcription FactorsNeurodevelopmental DisordersExome Sequencing

Keywords

MethylationGenome sequencingHypogonadismNeurodevelopmental DisorderExomeSox11

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile

FAIR Checklist

Authors (100)

Funding (10 grants)

Topics

Annotations (Europe PMC)