Evidence map›Paper›PMID 34733312›Full record

ArticleFrontiers in genetics2021

Identification of Novel and Recurrent Variants in

Kevin T Booth, Yoel Hirsch, Anna C Vardaro, Josef Ekstein, Devorah Yefet, Adina Quint, Tzvi Weiden, David P Corey

Open access · goldAbstract read
In one paragraph

Article in Frontiers in genetics, 2021. 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
0.1field-weighted citation impact, top 60% 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

2 citing papers in PubMed, 3 citations in OpenAlex.

  1. Article
  2. Biallelic Loss-of-Function Variants inInternational journal of molecular sciences · 2023
    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 at 2 institutions in 2 countries.

Kevin T BoothDepartment of Neurobiology, Harvard Medical School, Boston, MA, United States.
Yoel HirschDor Yeshorim, Committee for Prevention of Jewish Genetic Diseases, Brooklyn, NY, United States.
Anna C VardaroDepartment of Neurobiology, Harvard Medical School, Boston, MA, United States.
Josef EksteinDor Yeshorim, Committee for Prevention of Jewish Genetic Diseases, Brooklyn, NY, United States.
Devorah YefetDor Yeshorim, Committee for Prevention of Jewish Genetic Diseases, Jerusalem, Israel.
Adina QuintDor Yeshorim, Committee for Prevention of Jewish Genetic Diseases, Jerusalem, Israel.
Tzvi WeidenDor Yeshorim, Committee for Prevention of Jewish Genetic Diseases, Jerusalem, Israel.
David P CoreyDepartment of Neurobiology, Harvard Medical School, Boston, MA, United States.
Center for Jewish–Christian Understanding and Cooperation · ILHarvard University · US

Funding

TRAINING GRANT IN GENETICST32GM007748 · NIGMS · HARVARD UNIVERSITY (MEDICAL SCHOOL) · PI Anne O'Donnell-Luria, Louise Wilkins-Haug · 1985 to 2026
$12.0M
Gene Therapy for Hearing and Balance DisordersR01DC016932 · NIDCD · HARVARD MEDICAL SCHOOL · PI DAVID P COREY, Benjamin Peter Kleinstiver · 2018 to 2026
$2.8M
NIDCD NIH HHS R01 DC016932NIGMS NIH HHS T32 GM007748
6 · The paper itself

Abstract

Hearing loss is a genetically and phenotypically heterogeneous disorder. The purpose of this study was to determine the genetic cause underlying hearing loss in four Ashkenazi Jewish families. We screened probands from each family using a combination of targeted mutation screening and exome sequencing to identifiy the genetic cause of hearing loss in each family. We identified four variants in

Indexed as

Ashkenazi Jewishdeafnessgenotype-phenotype correlationhearing lossMYO15ARNA-splicing

Identifiers

PMID34733312
PMCPMC8558392
OpenAlexW3205674812

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.