Highlighting rare disease research with a GENETICS and G3 series on genetic models of rare diseases.

Philip Hieter, Brenda Andrews, Douglas Fowler, Hugo Bellen

Abstract read

In one paragraph

Article in G3 (Bethesda, Md.), 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it

0cells of the map it votes in

0citing papers in PubMed

–field-weighted citation impact

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

4 authors.

Philip HieterMichael Smith Laboratories, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.

Brenda AndrewsThe Donnelly Centre and Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 3E1, Canada.

Douglas FowlerDepartment of Genome Sciences and Department of Bioengineering, University of Washington, Seattle, WA, USA.

Hugo BellenDepartments of Molecular and Human Genetics, and Neuroscience Neurological Research Institute, Texas Children's Hospital Baylor College of Medicine, Houston, TX, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Models, GeneticRare DiseasesHumans

Identifiers

PMID37556359

DOI10.1093/g3journal/jkad144

PMCPMC10411584

What Socratic 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 Socratic graph.