Evidence map›Paper›PMID 34573334›Full record

ArticleGenes2021

Extended Phenotyping and Functional Validation Facilitate Diagnosis of a Complex Patient Harboring Genetic Variants in

Zhuo Shao, Ikuo Masuho, Anupreet Tumber, Jason T Maynes, Erika Tavares, Asim Ali, Stacy Hewson, Andreas Schulze, Peter Kannu, Kirill A Martemyanov and 1 more

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

Article in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.7field-weighted citation impact, top 26% 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

3 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. Review
  3. Review
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

11 authors at 4 institutions in 2 countries.

Zhuo ShaoDivision of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
Ikuo MasuhoDepartment of Neuroscience, The Scripps Research Institute, 130 Scripps Way, Jupiter, FL 33458, USA.
Anupreet TumberDepartment of Ophthalmology and Vision Sciences, Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
Jason T MaynesDivision of Molecular Medicine, Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
Erika TavaresGenetics and Genome Biology, Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
Asim AliDepartment of Ophthalmology and Vision Sciences, Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
Stacy HewsonDivision of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
Andreas SchulzeDivision of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.ORCID 0000-0001-8491-1095
Peter KannuMedical Genetics, University of Alberta, Edmonton, AB T6G 2R3, Canada.
Kirill A MartemyanovDepartment of Neuroscience, The Scripps Research Institute, 130 Scripps Way, Jupiter, FL 33458, USA.
Ajoy VincentDepartment of Ophthalmology and Vision Sciences, Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.ORCID 0000-0001-6446-3846
Hospital for Sick Children · CAUniversity of Toronto · CAScripps Research Institute · USUniversity of Alberta · CA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Identifying multiple ultra-rare genetic syndromes with overlapping phenotypes is a diagnostic conundrum in clinical genetics. This study investigated the pathogenicity of a homozygous missense variant in

Indexed as

Bioluminescence Resonance Energy Transfer TechniquesCarbon-Carbon LigasesChildExome SequencingEye DiseasesFemaleGenetic Diseases, InbornGenetic VariationGTP-Binding Protein beta SubunitsHEK293 CellsHumansInfant, NewbornIntellectual DisabilityMaleNeonatal ScreeningPhenotypeCarbon-Carbon LigasesGNB5 protein, humanGTP-Binding Protein beta SubunitsMCCC1 protein, humandevelopmental disabilitieselectroretinographyGNB5guanine nucleotide binding protein (G-protein), beta5humanMCCC1metabolism, inborn errorsreceptors, G-protein-coupledwhole exome sequencing

Identifiers

PMID34573334
PMCPMC8469011
OpenAlexW3198451447

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.