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Phenotypes and Genotypes in Patients with SMC1A-Related Developmental and Epileptic Encephalopathy

Genes(2023)10.3390/genes14040852Source: DataRank Database

Phenotypes and Genotypes in Patients with SMC1A-Related Developmental and Epileptic Encephalopathy is a research paper published in Genes (2023). On theSindex it has a DataRank of 0. It has been cited 17 times.

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0DataRank · unranked

Scored on demand from live citation data

Open Access17 citations

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (5 grants)Impact (FWCI 1.59)OA: goldTopics (34)IDs (PubMed, OpenAlex)SDGs (2)

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)

Jonathan Lopez ORCID,He Fang ORCID,Jacqueline Lee‐Eng,Zhijun Duan ORCID,Xinxian Deng ORCID

Live enrichment

PubMed:37107610 OpenAlex:https://openalex.org/W4362585565

American Epilepsy Society

Grant: 419380040101

American Epilepsy Society

Grant: GM127327

American Epilepsy Society

Grant: GM131745

National Institutes of Health

Grant: 5R35GM131745-05

X chromosome regulation and role in aneuploidy

National Institutes of Health

Grant: 1R01GM127327-01

Gene-by-gene studies of dosage regulation pathways of the mammalian active X chromosome

FWCI

1.59

Citation Percentile

0.8%

Citation Trend

2023

2024

2025

goldLicense: cc-by

journalhttps://www.mdpi.com/2073-4425/14/4/852/pdf?version=1680501071

publisherhttps://www.mdpi.com/2073-4425/14/4/852/pdf?version=1680501071

publisherhttps://www.mdpi.com/2073-4425/14/4/852/pdf

journalhttps://doi.org/10.3390/genes14040852

repositoryhttps://pubmed.ncbi.nlm.nih.gov/37107610

Fields of Study

Genomics and Chromatin DynamicsGenetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesGenomic variations and chromosomal abnormalities0303 health sciences03 medical and health sciences

MeSH Terms

Brain DiseasesDe Lange SyndromeFemaleGenotypeHumansMalePhenotypeGenes, cdc

Keywords

Cornelia de Lange SyndromeBiologyGeneticsGeneCohesinPhenotypeGenotypeChromosomeMaleBrain DiseasesX-chromosome inactivationArticleGenes, cdcDe Lange Syndrome<i>SMC1A</i>-DEEepilepsyHumansescapeFemaledevelopmental and epileptic encephalopathy<i>SMC1A</i>

Sustainable Development Goals

SDG 3: 3. Good healthSDG 0: Good health and well-being