Evidence map›Paper›PMID 30564329›Full record

ArticleClinical case reports2018

Novel mutation in

Dora J Melber, Tara S Andreasen, Rong Mao, Tatiana Tvrdik, Christine E Miller, Thomas R Moore, Douglas A Woelkers, Leah M Lamale-Smith

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Clinical case reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. Novel mutation inClinical case reports · 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

8 authors.

Dora J MelberDepartment of Obstetrics, Gynecology and Reproductive Sciences University of California San Diego La Jolla California.ORCID 0000-0002-6197-6619
Tara S AndreasenDivision of Genetics Department of Pediatrics University of California San Diego La Jolla California.
Rong MaoDepartment of Pathology University of Utah Salt Lake City Utah.
Tatiana TvrdikDepartment of Pathology University of Utah Salt Lake City Utah.
Christine E MillerARUP Laboratories Salt Lake City Utah.
Thomas R MooreDivision of Maternal-Fetal Medicine Department of Obstetrics, Gynecology, and Reproductive Sciences University of California San Diego La Jolla California.
Douglas A WoelkersDivision of Maternal-Fetal Medicine Department of Obstetrics, Gynecology, and Reproductive Sciences University of California San Diego La Jolla California.
Leah M Lamale-SmithDivision of Maternal-Fetal Medicine Department of Obstetrics, Gynecology, and Reproductive Sciences University of California San Diego La Jolla California.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Whole exome sequencing (WES) was used to determine the etiology of recurrent hydrops fetalis in this case of Hennekam lymphangiectasia-lymphedema syndrome-1. WES is a useful approach for diagnosing rare single-gene conditions with nonspecific phenotypes and should be considered early in the diagnostic process of investigating fetal abnormalities.

Indexed as

congenital abnormalitiesexome sequencinggenetic testingHennekam syndromehydrops fetalisprenatal diagnosis

Identifiers

PMID30564329
PMCPMC6293140

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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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.