Evidence map›Paper›PMID 30574312›Full record

ArticleSAGE open medical case reports2018

Whole-exome sequencing identifies a novel

Rosettia Ho, Adam D McIntyre, Brooke A Kennedy, Robert A Hegele

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

Article in SAGE open medical case reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.5field-weighted citation impact, top 36% 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

5 citing papers in PubMed, 6 citations in OpenAlex.

  1. A Novel HeterozygousPhenomics (Cham, Switzerland) · 2025
    Article
  2. Article
  3. Article
  4. Article
  5. 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

4 authors at 1 institution in 1 country.

Rosettia HoDepartment of Biochemistry, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada.
Adam D McIntyreRobarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada.
Brooke A KennedyRobarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada.
Robert A HegeleDepartment of Biochemistry, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada.
Western University · CA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Isolated brachydactyly is an umbrella term describing disproportionally shortened fingers and toes, often following an autosomal dominant mode of inheritance. Various forms of brachydactyly have been characterized and several causative genes have been found, but many types remain genetically undefined. We describe an Ontario family with mild brachydactyly in which whole-exome sequencing identified a novel variant for brachydactyly type A1 (exon 1, c.285_287dupGAA, p.Glu95_Asn96insLys) in the Indian hedgehog (

Indexed as

autosomal dominant disorderBrachydactyly type A1Indian hedgehogsignalling moleculeskeletal disorderwhole-exome sequencing

Identifiers

PMID30574312
PMCPMC6295682
OpenAlexW2905098948

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.