Pilot corpus: NIH-funded biomedical datasets. Any DOI can be scored on demand — network effects sharpen as coverage grows.

BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.11.003Source: DataRank Database

BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms is a research paper published in The American Journal of Human Genetics (2020). On theSindex it has a DataRank of 1.7. It has been cited 49 times, with 41 citing works in its 1-hop citation network.

N/A

1.7DataRank · unranked

Scored on demand from live citation data

Open Access49 citations · 41 citing works in its network

Download PDF

Cite:

Linked data & code

omim refseq doi

DataRank reads this dataset's downstream impact straight off the citation graph — no black box, no proprietary weighting. How is this computed?

›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (6 grants)Impact (FWCI 2.57)OA: greenTopics (70)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)

FAIR checklist signals are shown for context only and do not affect DataRank scoring.

Run a calibrated FAIR evaluation for this paper →

We only score data papers we can read in full — never from an abstract alone.

DataRank Breakdown

Base Score 34%Citation Network 66%

Base Score Contribution

0.587

From this paper's citation signal

Citation Network Contribution

1.2

From 31 citing papers with measurable signal

Learn more about DataRank methodology →

Top 5 citers driving the network score

Ranked by each citer's contribution to N(p) — log1p(C_q) divided by its reference count — out of 41 citers.

Loss of Bicra impairs Drosophila learning and choice abilities
Neuroscience Letters20213 citations7 referencesContributes 0.198
Identification of a novel BICRA variant leading to the newly described Coffin–Siris syndrome 12
Brain and Development20224 citations12 referencesContributes 0.134
A de novo variant of BICRA results in Coffin–Siris syndrome 12
Molecular Genetics & Genomic Medicine20233 citations14 referencesContributes 0.099
Neurodevelopmental Disorders and the Mystery of the Genes Involved: A Case Report of a BICRA Heterozygous Mutation Identified in Autism Spectrum Disorder
Cureus20241 citations10 referencesContributes 0.069
Case Report: BAF-Opathies/SSRIDDs Due to a de novo ACTL6A Variant, Previously Considered to Be Heart-Hand Syndrome
Frontiers in Cardiovascular Medicine20212 citations18 referencesContributes 0.061

Authors (53)

Tahsin Stefan Barakat ORCID,Brittany C. Michel,Nazar Mashtalir ORCID,Jennifer B. Phillips ORCID,Alfredo M. Valencia ORCID

Live enrichment

PubMed:33232675 PMC:PMC7820627 OpenAlex:https://openalex.org/W3107126205

NIH HHS

Grant: R24 OD022005

ZonMw

Grant: 91617021

NHGRI NIH HHS

Grant: U01 HG007709

NINDS NIH HHS

Grant: U54 NS093793

ZonMw

National Institutes of Health

FWCI

2.57

Citation Percentile

0.9%

Citation Trend

2021

2022

2023

2024

2025

2026

greenLicense: http://www.elsevier.com/open-access/userlicense/1.0/

repositoryhttps://www.ncbi.nlm.nih.gov/pmc/articles/7820627

publisherhttps://api.elsevier.com/content/article/PII:S0002929720304006?httpAccept=text/xml

publisherhttps://api.elsevier.com/content/article/PII:S0002929720304006?httpAccept=text/plain

journalhttps://doi.org/10.1016/j.ajhg.2020.11.003

Fields of Study

Chromatin Remodeling and CancerGenomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental DisordersAdolescentAnimalsChildChild, PreschoolChromosomal Proteins, Non-HistoneDevelopmental DisabilitiesDrosophila ProteinsDrosophila melanogasterFemaleGenes, DominantGenetic VariationHaploinsufficiencyHumansInfantMaleMicroscopy, ConfocalMutation, MissenseNeurogliaNeuronsPhenotypeProtein BindingTumor Suppressor ProteinsZebrafishZebrafish Proteins

MeSH Terms

AdolescentAnimalsChildDevelopmental DisabilitiesChild, PreschoolChromosomal Proteins, Non-HistoneDrosophila melanogasterFemaleGenes, DominantHumansInfantMaleNeurogliaNeuronsPhenotypeProtein BindingGenetic VariationZebrafishMicroscopy, ConfocalMutation, MissenseTumor Suppressor ProteinsDrosophila ProteinsZebrafish ProteinsHaploinsufficiency

Keywords

GeneticsHaploinsufficiencyBiologyPhenotypeSWI/SNFZebrafishLoss functionChromatin remodelingMissense mutationIntellectual disabilityGeneChromatinDrosophilaDevelopmental DelayPosition Effect VariegationGltscr1Ncbaf ComplexCg11873Bafopathy

Sustainable Development Goals

SDG 0: Good health and well-being

Related Papers (2)

Systematic mapping of genetic interactions for de novo fatty acid synthesis identifies C12orf49 as a regulator of lipid metabolism

N/A

3.0DataRank · unranked

Nature Metabolism(2020)

co-cited

10.1038/s42255-020-0211-z

hu.MAP 2.0: Integration of over 15,000 proteomic experiments builds a global compendium of human multiprotein assemblies

Top 37%

0.526DataRank

bioRxiv (Cold Spring Harbor Laboratory)(2020)

co-cited

10.1101/2020.09.15.298216

BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms

FAIR Checklist

DataRank Breakdown

Top 5 citers driving the network score

Authors (53)

Funding (6 grants)

Impact

Open Access

Topics

Annotations (Europe PMC)

Related Papers (2)