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Whole exome sequencing and functional characterization increase diagnostic yield in siblings with a 46, XY difference of sexual development (DSD)

The Journal of Steroid Biochemistry and Molecular Biology(2021)10.1016/j.jsbmb.2021.105908Source: DataRank Database

Whole exome sequencing and functional characterization increase diagnostic yield in siblings with a 46, XY difference of sexual development (DSD) is a research paper published in The Journal of Steroid Biochemistry and Molecular Biology (2021). On theSindex it has a DataRank of 0. It has been cited 1 time.

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Open Access1 citations

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

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Enrichment:Funding (3 grants)Impact (FWCI 0.07)OA: greenTopics (31)IDs (PubMed, PMC, OpenAlex)SDGs (1)

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 (10)

Daniel Wegner ORCID,Sarah Gale,Ping Yang ORCID,Abby Hollander ORCID,Lori St. Dennis-Feezle

Live enrichment

PubMed:33984517 PMC:PMC8725205 OpenAlex:https://openalex.org/W3163268098

Financial Services Commission

Grant: K12 HL120002

Financial Services Commission

Grant: R01 HL149853

Financial Services Commission

Grant: R33 HL120760

FWCI

0.07

Citation Percentile

0.4%

Citation Trend

2023

greenLicense: https://doi.org/10.15223/policy-004

repositoryhttps://scholarworks.indianapolis.iu.edu/bitstreams/97f1d297-1be5-4e9e-80c5-229cbc5db7bb/download

publisherhttps://api.elsevier.com/content/article/PII:S0960076021001011?httpAccept=text/xml

publisherhttps://api.elsevier.com/content/article/PII:S0960076021001011?httpAccept=text/plain

repositoryhttps://hdl.handle.net/1805/35304

Fields of Study

Sexual Differentiation and DisordersHormonal and reproductive studiesProstate Cancer Treatment and Research

MeSH Terms

Exome SequencingAndrostenedioneChild, PreschoolHumansMaleTestosterone17-Hydroxysteroid DehydrogenasesHEK293 CellsDisorder of Sex Development, 46,XY

Keywords

AndrostenedioneDisorders of sex developmentExome sequencingTestosterone (patch)BiologyInternal medicineEndocrinologyAndrogen insensitivity syndromeGeneticsPhenotypeAndrogenMedicineGeneAndrogen receptorHormoneTestosteroneHsd17b317Β-hydroxysteroid Dehydrogenase 3Differences Of Sexual Development

Sustainable Development Goals

SDG 0: Gender equality