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A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder

Genetics in Medicine(2022)10.1016/j.gim.2022.07.021Source: DataRank Database

A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder is a research paper published in Genetics in Medicine (2022). On theSindex it has a DataRank of 0. It has been cited 4 times.

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0DataRank · unranked

Scored on demand from live citation data

Open Access4 citations

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (4 grants)Impact (FWCI 0.31)OA: bronzeTopics (63)IDs (PubMed, PMC, OpenAlex)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 (20)

Kristin Grimsrud,Louise Lanoue ORCID,Alena Egense,Brandon Willis,Johanna Hörberg ORCID

Live enrichment

PubMed:36205747 PMC:PMC9598985 OpenAlex:https://openalex.org/W4301394407

National Institutes of Health

Grant: 1U41HG006834-01A1

A Unified Clinical Genomics Database

National Institutes of Health

Grant: U01HG007690

National Institutes of Health

Grant: 1U01HG007690-01

Center for Integrated Approaches to Undiagnosed Diseases

National Institutes of Health

Grant: 5U42OD012210-15

UCD Mutant Mouse Regional Resource Center

FWCI

0.31

Citation Percentile

0.5%

Citation Trend

2023

2024

2025

bronzeLicense: Elsevier Non-Commercial

journalhttp://www.gimjournal.org/article/S1098360022008723/pdf

publisherhttp://www.gimjournal.org/article/S1098360022008723/pdf

publisherhttps://api.elsevier.com/content/article/PII:S1098360022008723?httpAccept=text/xml

publisherhttps://api.elsevier.com/content/article/PII:S1098360022008723?httpAccept=text/plain

journalhttps://doi.org/10.1016/j.gim.2022.07.021

Fields of Study

RNA modifications and cancerBlood disorders and treatmentsRNA and protein synthesis mechanisms0301 basic medicine0303 health sciences03 medical and health sciences

Keywords

LethalityEmbryonic stem cellSynthetic lethalityNeurodevelopmental disorderMedicineBiologyGeneticsGeneSyndrome (mesh)Inbred C57BL (mesh)3102 Bioinformatics and Computational Biology (for-2020)Novel gene discoveryNeurodevelopmental Disorders (mesh)Inbred C57BL3105 Genetics (for-2020)Mice0604 Genetics (for)1103 Clinical Sciences (for)Nonverbal neurodevelopment delays2.1 Biological and endogenous factorsAnimals (mesh)Methyltransferases (mesh)PediatricGenetics & HeredityHumans (mesh)Mice (mesh)SyndromeBiological SciencesGenetics & Heredity (science-metrix)Precision genomicsAdenosine Diphosphate570Saccharomyces cerevisiae ProteinsSaccharomyces cerevisiae Proteins (mesh)Clinical SciencesBioinformatics and Computational Biology610Saccharomyces cerevisiaeArticleTranslational geneticsAdenosine Diphosphate (mesh)AnimalsHumansHistidineSaccharomyces cerevisiae (mesh)Pediatric (rcdc)31 Biological Sciences (for-2020)Genetics (rcdc)Human Genome2.1 Biological and endogenous factors (hrcs-rac)Undiagnosed Diseases NetworkMethyltransferasesHuman Genome (rcdc)Precision animal modelingMice, Inbred C57BLNeurodevelopmental DisordersHistidine (mesh)

Sustainable Development Goals

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