Evidence map›Paper›PMID 35055180›Full record

ArticleInternational journal of molecular sciences2022

Biallelic Variants in

Nicole J Van Bergen, Daniella H Hock, Lucy Spencer, Sean Massey, Tegan Stait, Zornitza Stark, Sebastian Lunke, Ain Roesley, Heidi Peters, Joy Yaplito Lee and 14 more

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of molecular sciences, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.9field-weighted citation impact, top 30% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed, 10 citations in OpenAlex.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

24 authors at 4 institutions in 1 country.

Nicole J Van BergenBrain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC 3052, Australia.ORCID 0000-0002-6768-3665
Daniella H HockDepartment of Biochemistry and Pharmacology and Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, VIC 3010, Australia.ORCID 0000-0002-6940-4420
Lucy SpencerBrain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC 3052, Australia.
Sean MasseyBrain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC 3052, Australia.
Tegan StaitBrain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC 3052, Australia.
Zornitza StarkDepartment of Paediatrics, University of Melbourne, Parkville, VIC 3010, Australia.ORCID 0000-0001-8640-1371
Sebastian LunkeDepartment of Paediatrics, University of Melbourne, Parkville, VIC 3010, Australia.ORCID 0000-0002-7168-0723
Ain RoesleyVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia.
Heidi PetersDepartment of Metabolic Medicine, Royal Children's Hospital, Parkville, VIC 3052, Australia.
Joy Yaplito LeeDepartment of Paediatrics, University of Melbourne, Parkville, VIC 3010, Australia.
Anna Le FevreVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia.
Oliver HeathDepartment of Metabolic Medicine, Royal Children's Hospital, Parkville, VIC 3052, Australia.ORCID 0000-0003-4191-3319
Cristina MignoneMedical Imaging Department, Royal Children's Hospital, Parkville, VIC 3052, Australia.
Joseph Yuan-Mou YangDepartment of Paediatrics, University of Melbourne, Parkville, VIC 3010, Australia.ORCID 0000-0003-4081-7157
Monique M RyanNeurology Department, Royal Children's Hospital, Parkville, VIC 3052, Australia.
Colleen D'ArcyAnatomical Pathology Department, Royal Children's Hospital, Parkville, VIC 3052, Australia.
Margot NashGeneral Medicine, Royal Children's Hospital, Parkville, VIC 3052, Australia.
Sile SmithPaediatric Intensive Care Unit, Royal Children's Hospital, Parkville, VIC 3052, Australia.
Nikeisha J CaruanaDepartment of Biochemistry and Pharmacology and Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, VIC 3010, Australia.
David R ThorburnBrain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC 3052, Australia.ORCID 0000-0002-7725-9470
David A StroudBrain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC 3052, Australia.ORCID 0000-0002-2048-3383
Susan M WhiteDepartment of Paediatrics, University of Melbourne, Parkville, VIC 3010, Australia.
John ChristodoulouBrain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC 3052, Australia.ORCID 0000-0002-8431-0641
Natasha J BrownDepartment of Paediatrics, University of Melbourne, Parkville, VIC 3010, Australia.
Royal Children's Hospital · AUThe University of Melbourne · AUVictorian Clinical Genetics Services · AUThe University of Sydney · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Pyridine Nucleotide-Disulfide Oxidoreductase Domain 2 (

Indexed as

Mutation, MissenseFatal OutcomeHumansInfantLeigh DiseaseMagnetic Resonance ImagingMaleMitochondrial ProteinsModels, MolecularProteomicsSequence Analysis, RNATumor Suppressor ProteinsWhole Genome SequencingMitochondrial ProteinsTumor Suppressor ProteinsYueF protein, humangenome sequencingmitochondriamitoribosomeoxidative phosphorylationPYROXD2reactive oxygen speciesultrarapid genomics

Identifiers

PMID35055180
PMCPMC8777681
OpenAlexW4206677749

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.