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Germline selection of PTPN11 (HGNC:9644) variants make a major contribution to both Noonan syndrome's high birth rate and the transmission of sporadic cancer variants resulting in fetal abnormality

Human Mutation(2022)10.1002/humu.24493Source: DataRank Database

Germline selection of PTPN11 (HGNC:9644) variants make a major contribution to both Noonan syndrome's high birth rate and the transmission of sporadic cancer variants resulting in fetal abnormality is a research paper published in Human Mutation (2022). On theSindex it has a DataRank of 0. It has been cited 9 times.

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0DataRank · unranked

Scored on demand from live citation data

Open Access9 citations

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Linked data & code

bioproject hgnc omim refseq uniprot

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (3 grants)Impact (FWCI 0.71)OA: hybridTopics (54)IDs (PubMed, PMC, OpenAlex)Annotations (5)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 (7)

Soo‐Kyung Choi,Song‐Ro Yoon,Anastasiia Sadybekov ORCID,Vsevolod Katritch ORCID,Peter Calabrese ORCID

Live enrichment

PubMed:36349709 PMC:PMC10099774 OpenAlex:https://openalex.org/W4308603283

NIGMS NIH HHS

Grant: R01 GM036745

National Institutes of Health

Grant: 5R01GM036745-26

Genetic Analysis Using Sperm Typing

National Institutes of Health

FWCI

0.71

Citation Percentile

0.7%

Citation Trend

2022

2024

2025

hybridLicense: cc-by

journalhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.24493

publisherhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.24493

journalhttps://doi.org/10.1002/humu.24493

repositoryhttps://pubmed.ncbi.nlm.nih.gov/36349709

repositoryhttps://www.ncbi.nlm.nih.gov/pmc/articles/10099774

Fields of Study

Protein Tyrosine PhosphatasesRNA modifications and cancerGalectins and Cancer Biology0301 basic medicine0303 health sciences03 medical and health sciencesPregnancyFemaleHumansMaleNoonan SyndromeBirth RateSemenExonsMutationNeoplasmsProtein Tyrosine Phosphatase, Non-Receptor Type 11

MeSH Terms

Birth RateExonsFemaleHumansMaleMutationNeoplasmsNoonan SyndromePregnancySemenProtein Tyrosine Phosphatase, Non-Receptor Type 11

Keywords

BiologyPTPN11Noonan syndromeGermlineSelection (genetic algorithm)CancerGeneticsGermline mutationAbnormalityMutationGeneFetal AbnormalitySporadic CancerRasopathiesGermline SelectionSsc Clonal ExpansionMaleProtein Tyrosine Phosphatase, Non-Receptor Type 11ExonsPregnancySemenNeoplasmsHumansFemaleBirth RateResearch Articles

Sustainable Development Goals

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

Germline selection of PTPN11 (HGNC:9644) variants make a major contribution to both Noonan syndrome's high birth rate and the transmission of sporadic cancer variants resulting in fetal abnormality

FAIR Checklist

Authors (7)

Funding (3 grants)

Impact

Open Access

Topics

Annotations (Europe PMC)