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Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delay

Molecular Genetics and Metabolism(2022)10.1016/j.ymgme.2022.03.007Source: DataRank Database

Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delay is a research paper published in Molecular Genetics and Metabolism (2022). On theSindex it has a DataRank of 0. It has been cited 14 times.

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Open Access14 citations

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

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Enrichment:Funding (11 grants)Impact (FWCI 1.31)OA: hybridTopics (50)Linked Datasets (4)DataCite Reuse (4)IDs (PubMed, PMC, OpenAlex)SDGs (1)

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Context only (not used in score)

Findable (2/2)

Has DOI
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Accessible (1/2)

Open Access

Interoperable (2/2)

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Reusable (0/3)

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Authors (12)

Jill A. Rosenfeld ORCID,Lindsay C. Burrage ORCID,Lisa Emrick ORCID,Seema R. Lalani ORCID,Ruben Attali

Live enrichment

PubMed:35361529 PMC:PMC10200280 OpenAlex:https://openalex.org/W4220975248

Office of Strategic Coordination

Grant: U54 NS108251

National Institutes of Health

Grant: R01 GM11447

National Institutes of Health

Grant: P40 OD010440

NIGMS NIH HHS

Grant: R01 GM114471

NHGRI NIH HHS

Grant: U01 HG007709

National Institutes of Health

Grant: 5R01AT011447-03

Spinal Cord Nociceptive Circuits that Deliver Outputs to the Brain to Initiate Pain

National Institutes of Health

Grant: 5U01HG007709-04

BCM CLINICAL SITE FOR AN UNDIAGNOSED DISEASES NETWORK (UDN)

National Institutes of Health

Grant: 1P40OD010440-01

Caenorhabditis Genetics Center

National Institutes of Health

Grant: 5R01GM114471-05

Cell Cycle Regulation of Membrane Trafficking

National Institutes of Health

Grant: 3U54NS108251-04S1

Multi-organism platform for functional analysis of Undiagnosed Diseases Network (UDN) variants

Children's Discovery Institute

FWCI

1.31

Citation Percentile

0.8%

Citation Trend

2023

2024

2025

2026

hybridLicense: cc-by-nc-nd

journalhttps://www.sciencedirect.com/science/article/pii/S1096719222001706/pdf

publisherhttps://www.sciencedirect.com/science/article/pii/S1096719222001706/pdf

publisherhttps://api.elsevier.com/content/article/PII:S1096719222001706?httpAccept=text/xml

publisherhttps://api.elsevier.com/content/article/PII:S1096719222001706?httpAccept=text/plain

journalhttps://doi.org/10.1016/j.ymgme.2022.03.007

Fields of Study

Genetics, Aging, and Longevity in Model OrganismsMitochondrial Function and PathologyPhotosynthetic Processes and Mechanisms0301 basic medicine0303 health sciences03 medical and health sciences

MeSH Terms

AnimalsChildDevelopmental DisabilitiesHumansMicrocephalyNuclear ProteinsPhenotypePhosphoprotein PhosphatasesSeizuresCaenorhabditis elegansMutation, MissenseCaenorhabditis elegans ProteinsF-Box ProteinsSeparase

Keywords

MicrocephalyProbandLoss functionBiologyGeneticsPhenotypeMissense mutationGeneMutantMutationDevelopmental DelayC. ElegansPph-5Ppp5c572Developmental DisabilitiesF-Box ProteinsICTS (Institute of Clinical and Translational Sciences)Mutation, MissenseNuclear ProteinsSeizuresMedicine and Health SciencesPhosphoprotein PhosphatasesAnimalsHumansMissenseCaenorhabditis elegansCaenorhabditis elegans ProteinsChildSeparase

Sustainable Development Goals

SDG 0: Good health and well-being

Additional file 2 of Circadian clock-related genome-wide mendelian randomization identifies putatively genes for ulcerative colitis and its comorbidity

10.6084/m9.figshare.25132172figshare

Additional file 2 of Circadian clock-related genome-wide mendelian randomization identifies putatively genes for ulcerative colitis and its comorbidity

10.6084/m9.figshare.25132172.v1figshare

Additional file 1 of Circadian clock-related genome-wide mendelian randomization identifies putatively genes for ulcerative colitis and its comorbidity

10.6084/m9.figshare.25132087figshare

Additional file 1 of Circadian clock-related genome-wide mendelian randomization identifies putatively genes for ulcerative colitis and its comorbidity

10.6084/m9.figshare.25132087.v1figshare