Evidence map›Paper›PMID 29261181›Full record

ArticleGenetics in medicine : official journal of the American College of Medical Genetics2018

Beware the laboratory report: discrepancy in variant classification on reproductive carrier screening.

Aarti Ramdaney, Diane M Dunn, Robert B Weiss, Nancy C Rose

Open access · bronzeAbstract readCase Reports
PubMed Publisher
In one paragraph

Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.1field-weighted citation impact, top 48% 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, 6 citations in OpenAlex.

  1. Interpretation of genomic sequencing: variants should be considered uncertain until proven guilty.Genetics in medicine : official journal of the American College of Medical Genetics · 2018
    Article
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 at 1 institution in 1 country.

Aarti RamdaneyDepartment of Obstetrics, Gynecology and Reproductive Sciences, University of Texas Medical School at Houston, Houston, Texas, USA.
Diane M DunnDepartment of Human Genetics, University of Utah, Salt Lake City, Utah, USA.
Robert B WeissDepartment of Human Genetics, University of Utah, Salt Lake City, Utah, USA.
Nancy C RoseDepartment of Obstetrics and Gynecology, University of Utah, Salt Lake City, Utah, USA.
University of Utah · US

Funding

Genetic modifiers of Duchenne Muscular DystrophyR01NS085238 · NINDS · RESEARCH INST NATIONWIDE CHILDREN'S HOSP · PI KEVIN M FLANIGAN, VERONICA J. VIELAND · 2014 to 2026
$8.6M
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Genetic Carrier ScreeningGenetic CounselingGenetic VariationAdultFemaleHumansMuscular Dystrophy, DuchennePrenatal Diagnosis

Identifiers

PMID29261181
OpenAlexW2766881859

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.