Evidence map›Paper›PMID 37074134›Full record

ArticleHuman molecular genetics2023

A paradoxical genotype-phenotype relationship: Low level of GOSR2 translation from a non-AUG start codon in a family with profound hearing loss.

Amal Aburayyan, Ryan J Carlson, Grace N Rabie, Ming K Lee, Suleyman Gulsuner, Tom Walsh, Karen B Avraham, Moien N Kanaan, Mary-Claire King

Open access · bronzeAbstract read
In one paragraph

Article in Human molecular genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed, 1 pooled it
0.2field-weighted citation impact, top 43% 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

1 citing paper in PubMed, 1 synthesis or guideline pooled it, 1 citations in OpenAlex.

  1. Pooled it
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

9 authors at 3 institutions in 3 countries.

Amal AburayyanDepartment of Genome Sciences and Department of Medicine, University of Washington, Seattle, WA, USA.
Ryan J CarlsonDepartment of Genome Sciences and Department of Medicine, University of Washington, Seattle, WA, USA.
Grace N RabieHereditary Research Laboratory, Department of Biology, Bethlehem University, Bethlehem, Palestine.
Ming K LeeDepartment of Genome Sciences and Department of Medicine, University of Washington, Seattle, WA, USA.
Suleyman GulsunerDepartment of Genome Sciences and Department of Medicine, University of Washington, Seattle, WA, USA.
Tom WalshDepartment of Genome Sciences and Department of Medicine, University of Washington, Seattle, WA, USA.
Karen B AvrahamDepartment of Human Molecular Genetics and Biochemistry, Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel.
Moien N KanaanHereditary Research Laboratory, Department of Biology, Bethlehem University, Bethlehem, Palestine.
Mary-Claire KingDepartment of Genome Sciences and Department of Medicine, University of Washington, Seattle, WA, USA.
University of Washington · USBethlehem University · PSTel Aviv University · IL

Funding

University of Washington Medical Scientist Training Program: MD/PhDT32GM007266 · NIGMS · UNIVERSITY OF WASHINGTON · PI HORWITZ, MARSHALL S. · 1985 to 2023
$30.4M
Auditory Neuroscience Traning ProgramT32DC005361 · NIDCD · UNIVERSITY OF WASHINGTON · PI Adrian KC Lee, DAVID J PERKEL · 2002 to 2026
$8.8M
Medical Genetics Training GrantT32GM007454 · NIGMS · UNIVERSITY OF WASHINGTON · PI Gail Pairitz Jarvik, Andrew Ben Stergachis · 1985 to 2026
$6.9M
Genomic Approaches to Discovery and Characterization of Genes for Inherited Hearing LossR01DC011835 · NIDCD · TEL AVIV UNIVERSITY · PI AVRAHAM, KAREN B., KANAAN, MOIEN · 2011 to 2022
$3.5M
Discovery and characterization of a novel candidate gene for inherited hearing lossF30DC018702 · NIDCD · UNIVERSITY OF WASHINGTON · PI CARLSON, RYAN JAMES · 2021 to 2021
$40k
NIDCD NIH HHS F30 DC018702NIDCD NIH HHS T32 DC005361NIGMS NIH HHS T32 GM007266NIGMS NIH HHS T32 GM007454NIH HHS R01DC011835
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Hearing LossProtein BiosynthesisCodon, InitiatorGenotypeHumansPeptide Chain Initiation, TranslationalPhenotypeQb-SNARE ProteinsCodon, InitiatorGOSR2 protein, humanQb-SNARE Proteins

Identifiers

PMID37074134
PMCPMC10321379
OpenAlexW4366351364

What OpenQuestion holds

Textmetadata
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.