Evidence map›Paper›PMID 31114025›Full record

ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019

Correction: ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs.

Marina T DiStefano, Sarah E Hemphill, Andrea M Oza, Rebecca K Siegert, Andrew R Grant, Madeline Y Hughes, Brandon J Cushman, Hela Azaiez, Kevin T Booth, Alex Chapin and 11 more

Abstract readPublished Erratum
PubMed Publisher
In one paragraph

Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Review
  2. Article
  3. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

21 authors.

Marina T DiStefanoLaboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, MA, USA.
Sarah E HemphillLaboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, MA, USA.
Andrea M OzaLaboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, MA, USA.
Rebecca K SiegertThe Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Andrew R GrantThe Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Madeline Y HughesThe Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Brandon J CushmanLaboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, MA, USA.
Hela AzaiezMolecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, University of Iowa Hospital and Clinics, Iowa City, IA, USA.
Kevin T BoothMolecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, University of Iowa Hospital and Clinics, Iowa City, IA, USA.
Alex ChapinARUP Laboratories, Salt Lake City, UT, USA.
Hatice DuzkaleDivision of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Tatsuo MatsunagaDivision of Hearing and Balance Research, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
Jun ShenLaboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, MA, USA.
Wenying ZhangThe Heart Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Margaret KennaDept. of Otolaryngology and Communication Enhancement, Boston Children's Hospital, Boston, MA, USA.
Lisa A SchimmentiDepartment of Otorhinolaryngology, Clinical Genomics and Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA.
Mustafa TekinJohn P. Hussman Institute for Human Genomics, University of Miami, Miami, FL, USA.
Heidi L RehmLaboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, MA, USA.
Ahmad N Abou TayounAl Jalila Children's Specialty Hospital, Al Jaddaf, Dubai, United Arab Emirates.
Sami S AmrLaboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, MA, USA. samr@partners.org.ORCID http://orcid.org/0000-0003-0927-6057
ClinGen Hearing Loss Clinical Domain Working Group

Funding

NONSYNDROMIC HEARING LOSS--A COLLABORATIVE STUDYR01DC002842 · NIDCD · UNIVERSITY OF IOWA · PI SMITH, RICHARD J.H. · 1996 to 2024
$12.7M
NIDCD NIH HHS R01 DC002842
6 · The paper itself

Abstract

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Identifiers

PMID31114025

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.