Evidence map›Paper›PMID 28273078›Full record

ArticlePloS one2017

Screening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approach.

Denise Yan, Guangxin Xiang, Xingping Chai, Jie Qing, Haiqiong Shang, Bing Zou, Rahul Mittal, Jun Shen, Richard J H Smith, Yao-Shan Fan and 6 more

Open access · goldAbstract read
In one paragraph

Article in PloS one, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.

0numbers the graph read from it
0cells of the map it votes in
18citing papers in PubMed
2.7field-weighted citation impact, top 11% 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

18 citing papers in PubMed, 22 citations in OpenAlex.

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  10. A proposal for comprehensive newborn hearing screening to improve identification of deaf and hard-of-hearing children.Genetics in medicine : official journal of the American College of Medical Genetics · 2019
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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

16 authors at 5 institutions in 3 countries.

Denise YanDepartment of Otolaryngology, University of Miami Miller School of Medicine, Miami, Florida, United States of America.
Guangxin XiangNational Engineering Research Center for Beijing Biochip Technology, Beijing, China.
Xingping ChaiNational Engineering Research Center for Beijing Biochip Technology, Beijing, China.
Jie QingDepartment of Otolaryngology, University of Miami Miller School of Medicine, Miami, Florida, United States of America.
Haiqiong ShangDepartment of Otolaryngology, University of Miami Miller School of Medicine, Miami, Florida, United States of America.
Bing ZouDepartment of Otolaryngology, University of Miami Miller School of Medicine, Miami, Florida, United States of America.
Rahul MittalDepartment of Otolaryngology, University of Miami Miller School of Medicine, Miami, Florida, United States of America.
Jun ShenDepartment of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.
Richard J H SmithDepartment of Otolaryngology - Head and Neck Surgery, Carver College of Medicine, University of Iowa, Iowa City, Iowa, United States of America.
Yao-Shan FanDepartment of Pathology, University of Miami Miller School of Medicine, Miami, Florida, United States of America.
Susan H BlantonDepartment of Otolaryngology, University of Miami Miller School of Medicine, Miami, Florida, United States of America.
Mustafa TekinDepartment of Otolaryngology, University of Miami Miller School of Medicine, Miami, Florida, United States of America.
Cynthia MortonDepartment of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.
Wanli XingNational Engineering Research Center for Beijing Biochip Technology, Beijing, China.
Jing ChengNational Engineering Research Center for Beijing Biochip Technology, Beijing, China.
Xue Zhong LiuDepartment of Otolaryngology, University of Miami Miller School of Medicine, Miami, Florida, United States of America.
University of Miami · USTsinghua University · CNBrigham and Women's Hospital · USMass General Brigham · USUniversity of Iowa · US

Funding

A Collaborative Search for New Genes for Non-Syndromic DeafnessR01DC009645 · NIDCD · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI MUSTAFA TEKIN · 2010 to 2026
$11.8M
Molecular Genetics on Non Syndromic Hearing Loss (NSHL)R01DC005575 · NIDCD · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI LIU, XUE Z · 2001 to 2024
$10.6M
Sensory disorders in COVID -19 as an early identifier and healthcare worker protectionR01DC012115 · NIDCD · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI LIU, XUE Z · 2013 to 2022
$7.2M
SEQuencing a Baby for an Optimal Outcome (SEQaBOO)R01DC015052 · NIDCD · BRIGHAM AND WOMEN'S HOSPITAL · PI MORTON, CYNTHIA CASSON · 2016 to 2020
$3.8M
NIDCD NIH HHS R01 DC005575NIDCD NIH HHS R01 DC009645NIDCD NIH HHS R01 DC012115NIDCD NIH HHS R01 DC015052
6 · The paper itself

Abstract

The unparalleled heterogeneity in genetic causes of hearing loss along with remarkable differences in prevalence of causative variants among ethnic groups makes single gene tests technically inefficient. Although hundreds of genes have been reported to be associated with nonsyndromic hearing loss (NSHL), GJB2, GJB6, SLC26A4, and mitochondrial (mt) MT-RNR1 and MTTS are the major contributors. In order to provide a faster, more comprehensive and cost effective assay, we constructed a DNA fluidic array, CapitalBioMiamiOtoArray, for the detection of sequence variants in five genes that are common in most populations of European descent. They consist of c.35delG, p.W44C, p.L90P, c.167delT (GJB2); 309kb deletion (GJB6); p.L236P, p.T416P (SLC26A4); and m.1555A>G, m.7444G>A (mtDNA). We have validated our hearing loss array by analyzing a total of 160 DNAs samples. Our results show 100% concordance between the fluidic array biochip-based approach and the established Sanger sequencing method, thus proving its robustness and reliability at a relatively low cost.

Indexed as

Oligonucleotide Array Sequence AnalysisConnexin 26Connexin 30ConnexinsDeafnessDNADNA, MitochondrialGenetic Predisposition to DiseaseGenetic TestingHumansMembrane Transport ProteinsMitochondriaPolymerase Chain ReactionSequence Analysis, DNASulfate TransportersWhite PeopleConnexin 26Connexin 30ConnexinsDNADNA, MitochondrialGJB2 protein, humanGJB6 protein, humanMembrane Transport ProteinsSLC26A4 protein, humanSulfate Transporters

Identifiers

PMID28273078
PMCPMC5342170
OpenAlexW2593270699

What OpenQuestion holds

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LicenceCC BY
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Registered trials

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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.