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Exome sequencing reveals neurodevelopmental genes in simplex consanguineous Iranian families with syndromic autism

BMC Medical Genomics(2024)10.1186/s12920-024-01969-6Source: DataRank Database

Exome sequencing reveals neurodevelopmental genes in simplex consanguineous Iranian families with syndromic autism is a research paper published in BMC Medical Genomics (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 (4 grants)Impact (FWCI 2.63)OA: goldTopics (51)IDs (PubMed, PMC, OpenAlex)Annotations (3)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 (16)

Hossein Sadeghi ORCID,Feyzollah Hashemi‐Gorji ORCID,Reza Mirfakhraie ORCID,Vijay Gupta ORCID,Afif Ben‐Mahmoud ORCID

Live enrichment

PubMed:39103847 PMC:PMC11302097 OpenAlex:https://openalex.org/W4401332437

Congressionally Directed Medical Research Program

Grant: OC220235

National Institute of Child Health and Human Development

Grant: NICHD 5R01HD033004-15

Research Department of the School of Medicine Shahid Beheshti University of Medical Sciences

Grant: Pajoohan code: 21827

NICHD NIH HHS

Grant: R01 HD033004

FWCI

2.63

Citation Percentile

0.9%

Citation Trend

2024

2025

2026

goldLicense: cc-by

journalhttps://doi.org/10.1186/s12920-024-01969-6

publisherhttps://doi.org/10.1186/s12920-024-01969-6

publisherhttps://link.springer.com/content/pdf/10.1186/s12920-024-01969-6.pdf

publisherhttps://link.springer.com/article/10.1186/s12920-024-01969-6/fulltext.html

repositoryhttps://pubmed.ncbi.nlm.nih.gov/39103847

Fields of Study

Genomics and Rare DiseasesAutism Spectrum Disorder ResearchGenetics and Neurodevelopmental DisordersHumansIranConsanguinityMaleFemalePedigreeExome SequencingAutistic DisorderChildForkhead Transcription FactorsNerve Tissue ProteinsAdultSyndromeExomeChild, Preschool

MeSH Terms

Exome SequencingAdultAutistic DisorderChildChild, PreschoolConsanguinityFemaleHumansIranMaleNerve Tissue ProteinsPedigreeSyndromeForkhead Transcription FactorsExome

Keywords

Exome sequencingHuman geneticsAutismBiologyGeneticsGeneExomeAutism spectrum disorderMedicineBioinformaticsMutationPsychiatryIranMuscular dystrophyNeurodevelopmental DisorderSyndromic AutismDe Novo VariantsConsanguineous Simplex Family

Sustainable Development Goals

SDG 0: Good health and well-being

Exome sequencing reveals neurodevelopmental genes in simplex consanguineous Iranian families with syndromic autism

FAIR Checklist

Authors (16)

Funding (4 grants)

Impact

Open Access

Topics

Annotations (Europe PMC)