Evidence map›Paper›PMID 35047835›Full record

ArticleHGG advances2021

Variants in

Alexa Derksen, Hung-Yu Shih, Diane Forget, Lama Darbelli, Luan T Tran, Christian Poitras, Kether Guerrero, Sundaresan Tharun, Fowzan S Alkuraya, Wesam I Kurdi and 7 more

Open access · goldAbstract read
In one paragraph

Article in HGG advances, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.4field-weighted citation impact, top 41% 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

6 citing papers in PubMed, 9 citations in OpenAlex.

  1. Review
  2. Article
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  4. Review
  5. Review
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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

17 authors at 8 institutions in 3 countries.

Alexa DerksenChild Health and Human Development Program, Research Institute of the McGill University Health Centre, Montréal, QC H4A 3J1, Canada.
Hung-Yu ShihDepartment of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT 84132, USA.
Diane ForgetTranslational Proteomics Laboratory, Institut de Recherches Cliniques de Montréal, Montréal, QC H2W 1R7, Canada.
Lama DarbelliChild Health and Human Development Program, Research Institute of the McGill University Health Centre, Montréal, QC H4A 3J1, Canada.
Luan T TranChild Health and Human Development Program, Research Institute of the McGill University Health Centre, Montréal, QC H4A 3J1, Canada.
Christian PoitrasTranslational Proteomics Laboratory, Institut de Recherches Cliniques de Montréal, Montréal, QC H2W 1R7, Canada.
Kether GuerreroChild Health and Human Development Program, Research Institute of the McGill University Health Centre, Montréal, QC H4A 3J1, Canada.
Sundaresan TharunDepartment of Biochemistry, Uniformed Services University of Health Sciences (USUHS), Bethesda, MD 20814, USA.
Fowzan S AlkurayaDepartment of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh 12713, Saudi Arabia.
Wesam I KurdiDepartment of Obstetrics and Gynecology, Maternal Fetal Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh 12713, Saudi Arabia.
Cam-Tu Emilie NguyenNeurosciences Department, Université de Montréal, Montréal, QC H3T 1J4, Canada.
Anne-Marie LabergeService de Génétique Médical, CHU Sainte-Justine, Montréal, QC H3T 1C5, Canada.
Yue SiGeneDx, Gaithersburg, MD 20877, USA.
Marie-Soleil GauthierTranslational Proteomics Laboratory, Institut de Recherches Cliniques de Montréal, Montréal, QC H2W 1R7, Canada.
Joshua L BonkowskyDepartment of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT 84132, USA.
Benoit CoulombeTranslational Proteomics Laboratory, Institut de Recherches Cliniques de Montréal, Montréal, QC H2W 1R7, Canada.
Geneviève BernardChild Health and Human Development Program, Research Institute of the McGill University Health Centre, Montréal, QC H4A 3J1, Canada.
McGill University Health Centre · CAMontreal Clinical Research Institute · CAKing Faisal Specialist Hospital & Research Centre · SAUniversity of Utah · USCentre Hospitalier Universitaire Sainte-Justine · CAMcGill University · CAUniformed Services University of the Health Sciences · USUniversité de Montréal · CA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Leukodystrophies, genetic neurodevelopmental and/or neurodegenerative disorders of cerebral white matter, result from impaired myelin homeostasis and metabolism. Numerous genes have been implicated in these heterogeneous disorders; however, many individuals remain without a molecular diagnosis. Using whole-exome sequencing, biallelic variants in

Indexed as

leukodystrophyleukoencephalopathyLSM1-7 complexLSM2-8 complexLSM7neurodevelopment

Identifiers

PMID35047835
PMCPMC8756503
OpenAlexW3159323407

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.