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Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus

Med(2020)10.1016/j.medj.2020.06.004Source: DataRank Database

Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus is a research paper published in Med (2020). On theSindex it has a DataRank of 0. It has been cited 72 times.

N/A

0DataRank · unranked

Scored on demand from live citation data

Open Access72 citations

Cite:

Linked data & code

gen omim doi

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (27 grants)Impact (FWCI 3.12)OA: bronzeTopics (54)IDs (PubMed, PMC, OpenAlex)Annotations (3)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 (45)

Alison G. Compton ORCID,Yoshihito Kishita ORCID,Daniella H. Hock ORCID,AnneMarie E. Welch ORCID,Sumudu S. C. Amarasekera ORCID

Live enrichment

PubMed:33575671 PMC:PMC7875323 OpenAlex:https://openalex.org/W3041505009

Japan Agency for Medical Research and Development

Grant: 18ek0109177

Japan Agency for Medical Research and Development

Grant: 19kk0205014

Japan Agency for Medical Research and Development

Grant: 18kk0205002

Japan Agency for Medical Research and Development

Grant: 19ek0109273

National Health and Medical Research Council

Grant: 1155244

National Health and Medical Research Council

Grant: 1068278

Using high-throughput genomics to reveal the deleterious genetic changes that underlie paediatric leukoencephalopathies

National Health and Medical Research Council

Grant: 1140851

Systems approaches to understanding mitochondrial function and dysfunction in disease

National Health and Medical Research Council

Grant: 1113531

Preparing Australia for Genomic Medicine: A proposal by the Australian Genomics Health Alliance

National Health and Medical Research Council

Grant: 1164479

National Institutes of Health

Grant: R35GM122455

Congressionally Directed Medical Research Programs

Grant: PR170396

Japan Society for the Promotion of Science

Grant: 19H03624

Howard Hughes Medical Institute

McCusker Charitable Foundation

National Cancer Institute

National Human Genome Research Institute

State Government of Victoria

Consejo Nacional de Ciencia y Tecnología

National Institute of Mental Health

National Institute of Neurological Disorders and Stroke

Australian Genomics Health Alliance

Australian Mitochondrial Disease Foundation

National Institute on Drug Abuse

Angela Wright Bennett Foundation

National Heart, Lung, and Blood Institute

Office of Health and Medical Research

Ministry of Education, Culture, Sports, Science and Technology

FWCI

3.12

Citation Percentile

0.9%

Citation Trend

2020

2021

2022

2023

2024

2025

2026

bronzeLicense: Elsevier Non-Commercial

journalhttp://www.cell.com/article/S266663402030009X/pdf

publisherhttp://www.cell.com/article/S266663402030009X/pdf

publisherhttps://api.elsevier.com/content/article/PII:S266663402030009X?httpAccept=text/xml

publisherhttps://api.elsevier.com/content/article/PII:S266663402030009X?httpAccept=text/plain

journalhttps://doi.org/10.1016/j.medj.2020.06.004

Fields of Study

Mitochondrial Function and PathologyGenomics and Rare DiseasesPeroxisome Proliferator-Activated Receptors0301 basic medicine03 medical and health sciences0303 health sciences

MeSH Terms

ATPases Associated with Diverse Cellular ActivitiesAustraliaChildHeart FailureHumansMembrane ProteinsCardiomyopathiesUnited StatesMitochondrial ProteinsMitochondrial Diseases

Keywords

Locus (genetics)Gene duplicationMedicineGeneticsBiologyGeneGenomicsCardiomyopathyQuantitative ProteomicsMitochondrial DiseaseSegmental DuplicationAtad3COMPUTATIONAL PLATFORMMitochondrial DiseasesTranslation to Patients610HIGH-THROUGHPUTGENOMIC DISORDERSMitochondrial ProteinsSDG 3 - Good Health and Well-beingde novo duplicationHumansChildCOPY-NUMBER VARIANTSHeart FailureARCHITECTUREMEMBRANE-PROTEINMUTATIONSCHOLESTEROLAustraliaMembrane ProteinsDNAUnited StatesCOMPLEX I DEFICIENCY2700 Medicineperinatal deathATPases Associated with Diverse Cellular ActivitiesCardiomyopathies

Sustainable Development Goals

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