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Targeted Long-Read Sequencing Identifies a Retrotransposon Insertion as a Cause of Altered GNAS Exon A/B Methylation in a Family With Autosomal Dominant Pseudohypoparathyroidism Type 1b (PHP1B)

Journal of Bone and Mineral Research(2020)10.1002/jbmr.4647Source: DataRank Database

Targeted Long-Read Sequencing Identifies a Retrotransposon Insertion as a Cause of Altered GNAS Exon A/B Methylation in a Family With Autosomal Dominant Pseudohypoparathyroidism Type 1b (PHP1B) is a research paper published in Journal of Bone and Mineral Research (2020). On theSindex it has a DataRank of 0. It has been cited 29 times.

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Open Access29 citations

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datarank_citation_only_1hop_v6· scope data_onlyMethodology

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Enrichment:Funding (11 grants)Impact (FWCI 1.60)OA: greenTopics (35)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 (7)

Patrick Hanna ORCID,Miranda Galey ORCID,Monica Reyes,Agnès Linglart ORCID,Evan E. Eichler ORCID

Live enrichment

PubMed:35811283 PMC:PMC9474630 OpenAlex:https://openalex.org/W4285013832

National Human Genome Research Institute

Grant: U01 HG011744

National Human Genome Research Institute

Grant: UM1 HG006493

National Institutes of Health

Grant: R01MH101221

NIH Clinical Center

Grant: DK046718

NIH Clinical Center

Grant: PO1-DK11794

NIH Clinical Center

Grant: PO1‐DK11794

NIDDK NIH HHS

Grant: R01 DK046718

NIDDK NIH HHS

Grant: R37 DK046718

NIDDK NIH HHS

Grant: R56 DK046718

NIDDK NIH HHS

Grant: P01 DK011794

Brotman Baty Institute for Precision Medicine

FWCI

1.60

Citation Percentile

0.8%

Citation Trend

2023

2024

2025

2026

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

repositoryhttps://www.ncbi.nlm.nih.gov/pmc/articles/9474630

publisherhttps://onlinelibrary.wiley.com/doi/pdf/10.1002/jbmr.4647

publisherhttps://onlinelibrary.wiley.com/doi/full-xml/10.1002/jbmr.4647

publisherhttps://academic.oup.com/jbmr/article-pdf/37/9/1711/55456568/jbmr4647.pdf

Fields of Study

Genetic Syndromes and ImprintingGenomics and Rare DiseasesCongenital heart defects research

MeSH Terms

Darbepoetin alfaAnimalsChromograninsExonsPseudohypoparathyroidismRetroelementsDNA MethylationGTP-Binding Protein alpha Subunits, GsMice

Keywords

GNAS complex locusExonBiologyRetrotransposonPseudohypoparathyroidismGeneticsDifferentially methylated regionsMethylationDNA methylationInterspersed repeatMolecular biologyParathyroid hormoneGenomeGeneHuman genomeInternal medicineMedicineGene expressionTransposable elementGnasGs-alphaParent-specific Gnas MethylationTargeted Long-read Sequencing

Sustainable Development Goals

SDG 0: Good health and well-being

Targeted Long-Read Sequencing Identifies a Retrotransposon Insertion as a Cause of Altered GNAS Exon A/B Methylation in a Family With Autosomal Dominant Pseudohypoparathyroidism Type 1b (PHP1B)

FAIR Checklist

Authors (7)

Funding (11 grants)

Impact

Open Access

Topics

Annotations (Europe PMC)