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

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.06.012Source: DataRank Database

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling is a research paper published in The American Journal of Human Genetics (2023). On theSindex it has a DataRank of 0.345. It has been cited 9 times.

N/A

0.345DataRank · unranked

Scored on demand from live citation data

Open Access9 citations

Download PDF

Cite:

Linked data & code

omim refseq

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 (22 grants)Impact (FWCI 1.16)OA: greenTopics (56)IDs (PubMed, PMC, OpenAlex)Annotations (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)

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 100%Citation Network 0%

Base Score Contribution

0.345

From this paper's citation signal

Citation Network Contribution

Citation network not refreshed for this result

This paper's DataRank is currently driven only by its base citation score. Citation network data was not refreshed for this result.

Learn more about DataRank methodology →

Authors (99)

Rossella Venditti ORCID,Evangelos A. Theodorou ORCID,Lauren C. Briere ORCID,Marion Rosello ORCID,Alfonsina Tirozzi ORCID

Live enrichment

PubMed:37451268 PMC:PMC10432144 OpenAlex:https://openalex.org/W4384273946

Associazione Italiana per la Ricerca sul Cancro

Grant: MFAG 2020_25174

National Institutes of Health

Grant: U01HG007690

Horizon 2020

Grant: 779257

Solving the unsolved Rare Diseases

Center for Clinical and Translational Research

Grant: 1UL1TR001102

Agence Nationale de la Recherche

Grant: ANR-22-CE17-028 PEMGeT

Fondation pour la Recherche Médicale

Grant: ECO20170637481

Fondation pour la Recherche Médicale

Grant: MND202003011485

Ente Cassa di Risparmio di Firenze

Grant: ANR-18-IAHU-01

Seventh Framework Programme

Grant: 305444

RD-CONNECT: An integrated platform connecting registries, biobanks and clinical bioinformatics for rare disease research

NINDS NIH HHS

Grant: U01 NS134356

NCATS NIH HHS

Grant: UL1 TR001102

NHGRI NIH HHS

Grant: U01 HG007703

National Institutes of Health

Grant: 1U01HG007690-01

Center for Integrated Approaches to Undiagnosed Diseases

French National Research Agency (ANR)

Grant: ANR-20-CE17-0020

Investigating UNC45A dependent epithelial polarization in microvillus inclusion disease (MVID)-like disease: from mechanism to development of models for preclinical studies

French National Research Agency (ANR)

Grant: ANR-18-CE16-0017

Hubs of subcellular signaling in developing neurons

National Institutes of Health

Grant: 4UL1TR001102-04

Harvard Clinical and Translational Science Center

Ligue Contre le Cancer

Seventh Framework Programme

Telethon Foundation

Common Fund

Horizon 2020 Framework Programme

Tuscany Region

FWCI

1.16

Citation Percentile

0.8%

Citation Trend

2023

2024

2025

2026

greenLicense: other-oa

repositoryhttps://flore.unifi.it/bitstream/2158/1438748/1/Morleo%20et%20al%202023%20PIP5KI%ce%b3.pdf

GREENhttps://flore.unifi.it/bitstream/2158/1438748/1/Morleo%20et%20al%202023%20PIP5KI%ce%b3.pdf

repositoryhttps://flore.unifi.it/bitstream/2158/1438748/1/Morleo%20et%20al%202023%20PIP5KI%ce%b3.pdf

publisherhttps://api.elsevier.com/content/article/PII:S0002929723002136?httpAccept=text/xml

publisherhttps://api.elsevier.com/content/article/PII:S0002929723002136?httpAccept=text/plain

Fields of Study

Cellular transport and secretionGenetic and Kidney Cyst DiseasesRetinal Development and DisordersMedicineBiology0303 health sciences03 medical and health sciencesAnimalsPhosphatidylinositolsSyndromeActinsZebrafishIntellectual DisabilityPhosphoric Monoester HydrolasesPhosphatidylinositol Phosphates

MeSH Terms

ActinsAnimalsIntellectual DisabilityPhosphatidylinositolsPhosphoric Monoester HydrolasesSyndromeZebrafishPhosphatidylinositol Phosphates

Keywords

BiologyMissense mutationLissencephalyJoubert syndromePhosphatidylinositolMicrocephalyPhosphatidylinositol 4,5-bisphosphateGeneticsCell biologyPhenotypeKinaseGeneZebrafishPhosphoinositidesDevelopmental DelayIntellectual DisabilityEndosomesPip5k1cDe Novo Gain-of-function VariantsPhosphatidylinositol 4,5 Bisphosphate (Pi(4,5)p(2))phosphatidylinositol 4Syndromede novo gain-of-function variants; developmental delay; endosomes; intellectual disability; phosphatidylinositol 4,5 bisphosphate (PI(4,5)P; 2; ); phosphoinositides; PIP5K1C; zebrafishPhosphatidylinositolsPIP5K1C; de novo gain-of-function variants; developmental delay; endosomes; intellectual disability; phosphatidylinositol 4,5 bisphosphate (PI(4,5)P(2)); phosphoinositides; zebrafishActinsPhosphoric Monoester Hydrolases5)P(2))PIP5K1C; de novo gain-of-function variants; developmental delay; endosomes; intellectual disability; phosphatidylinositol 4,5 bisphosphate (PI(4,5)P(2)); phosphoinositides; zebrafish; geneticsPhosphatidylinositol PhosphatesAnimals5 bisphosphate (PI(4phosphatidylinositol 4,5 bisphosphate (PI(4,5)P2)

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

FAIR Checklist

DataRank Breakdown

Authors (99)

Funding (22 grants)

Impact

Open Access

Topics

Annotations (Europe PMC)