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MED12 Loss‐of‐Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63868Source: DataRank Database

MED12 Loss‐of‐Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability is a research paper published in American Journal of Medical Genetics Part A (2024). On theSindex it has a DataRank of 0. It has been cited 7 times.

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Open Access7 citations

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Enrichment:Funding (1 grants)Impact (FWCI 1.14)OA: bronzeTopics (47)IDs (PubMed, PMC, OpenAlex)Annotations (1)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 (6)

Elizabeth Mizerik ORCID,Carlos A. Bacino ORCID,Hongzheng Dai ORCID,Liesbeth Vossaert ORCID,Daryl A. Scott ORCID

Live enrichment

PubMed:39215511 PMC:PMC11637953 OpenAlex:https://openalex.org/W4402099044

Eunice Kennedy Shriver National Institute of Child Health and Human Development

Grant: R01HD098458

FWCI

1.14

Citation Percentile

0.8%

Citation Trend

2024

2025

2026

bronzeLicense: http://onlinelibrary.wiley.com/termsAndConditions#vor

journalhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.a.63868

publisherhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.a.63868

publisherhttps://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63868

journalhttps://doi.org/10.1002/ajmg.a.63868

repositoryhttps://pubmed.ncbi.nlm.nih.gov/39215511

Fields of Study

RNA modifications and cancerCongenital Diaphragmatic Hernia StudiesPediatric Hepatobiliary Diseases and Treatments

MeSH Terms

Abnormalities, MultipleLoss of Function MutationAnus, ImperforateBlepharoptosisChild, PreschoolCleft PalateConstipationFemaleHeart Defects, CongenitalHumansInfantMaleIntellectual DisabilityMuscle HypotoniaPhenotypeBlepharophimosisFaciesX-Linked Intellectual DisabilityMental Retardation, X-LinkedGenetic Diseases, X-LinkedGenetic Association StudiesMediator ComplexAgenesis of Corpus CallosumHernias, Diaphragmatic, Congenital

Keywords

Intellectual disabilityFrameshift mutationMissense mutationNonsenseGeneticsExome sequencingNonsense mutationMedicineBiologyGenePhenotypeCDHCongenital Diaphragmatic HerniaMed12Mediator Complex Subunit 12Ohdo SyndromeHardikar SyndromeLujan–fryns SyndromeCdh+Opitz–kaveggia Syndrome

Sustainable Development Goals

SDG 0: Gender equality