Evidence map›Paper›PMID 31428484›Full record

ArticleCase reports in genetics2019

A Start Codon Variant in

Nathan R Lindquist, Eric N Appelbaum, Anushree Acharya, Jeffrey T Vrabec, Suzanne M Leal, Isabelle Schrauwen

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

Article in Case reports in genetics, 2019. 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
–field-weighted citation impact, top 93% 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, 2 citations in OpenAlex.

  1. Empty oval window associated with ossicular malformation: Our experience and a review of the literature.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2026
    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

6 authors at 3 institutions in 1 country.

Nathan R LindquistDepartment of Otolaryngology, Head and Neck Surgery, Baylor College of Medicine, Houston, Texas, USA.ORCID https://orcid.org/0000-0001-9015-4895
Eric N AppelbaumDepartment of Otolaryngology, Head and Neck Surgery, Baylor College of Medicine, Houston, Texas, USA.
Anushree AcharyaCenter for Statistical Genetics, Department of Neurology, Gertrude H. Sergievsky Center, Columbia University Medical Center, New York, NY, USA.
Jeffrey T VrabecDepartment of Otolaryngology, Houston Methodist Hospital, Houston, Texas, USA.
Suzanne M LealCenter for Statistical Genetics, Department of Neurology, Gertrude H. Sergievsky Center, Columbia University Medical Center, New York, NY, USA.
Isabelle SchrauwenCenter for Statistical Genetics, Department of Neurology, Gertrude H. Sergievsky Center, Columbia University Medical Center, New York, NY, USA.ORCID https://orcid.org/0000-0001-7310-6082
Columbia University Irving Medical Center · USBaylor College of Medicine · USHouston Methodist · US

Funding

Identification of Nonsyndromic Hearing Impairment GenesR01DC003594 · NIDCD · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI SUZANNE M LEAL · 2004 to 2026
$7.7M
Localization of Nonsyndromic Hearing Impairment GenesR01DC011651 · NIDCD · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI LEAL, SUZANNE M · 2011 to 2020
$2.9M
ISOLATION OF NON SYNDROMIC HEARING LOSS GENESR29DC003594 · NIDCD · ROCKEFELLER UNIVERSITY · PI LEAL, SUZANNE MARGARET · 1998 to 2002
$345k
NIDCD NIH HHS R01 DC003594NIDCD NIH HHS R01 DC011651NIDCD NIH HHS R29 DC003594
6 · The paper itself

Abstract

We performed exome sequencing to evaluate the underlying molecular cause of a patient with bilateral conductive hearing loss due to multiple ossicular abnormalities as well as symphalangism of the fifth digits. This leads to the identification of a novel heterozygous start codon variant in the

Identifiers

PMID31428484
PMCPMC6679842
OpenAlexW2963658977

What OpenQuestion 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 OpenQuestion graph.