Evidence map›Paper›PMID 31621509›Full record

ReviewTrends in hearing

Diagnosing and Preventing Hearing Loss in the Genomic Age.

John H McDermott, Leslie P Molina-Ramírez, Iain A Bruce, Ajit Mahaveer, Mark Turner, Gino Miele, Richard Body, Rachel Mahood, Fiona Ulph, Rhona MacLeod and 7 more

Open access · goldAbstract readReview
In one paragraph

Review in Trends in hearing. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed, 1 pooled it
1.7field-weighted citation impact, top 19% 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

15 citing papers in PubMed, 1 synthesis or guideline pooled it, 27 citations in OpenAlex.

  1. Guideline
  2. Review
  3. Article
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  5. Review
  6. Article
  7. Review
  8. Article
  9. Article
  10. Review
  11. Article
  12. Article
  13. Navigating Hereditary Hearing Loss: Pathology of the Inner Ear.Frontiers in cellular neuroscience · 2021
    Review
  14. Review
  15. 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

17 authors at 6 institutions in 2 countries.

John H McDermottManchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, UK.ORCID 0000-0002-5220-8837
Leslie P Molina-RamírezManchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, UK.ORCID 0000-0001-7573-6846
Iain A BruceHearing Health Theme, Manchester NIHR Biomedical Research Centre, UK.
Ajit MahaveerNewborn Intensive Care Unit, Manchester University NHS Foundation Trust, UK.
Mark TurnerNewborn Intensive Care Unit, Liverpool Women's Hospital, UK.
Gino MieleGenedrive Diagnostics Ltd, Manchester, UK.
Richard BodyEmergency Department, Manchester University NHS Foundation Trust, UK.
Rachel MahoodManchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, UK.
Fiona UlphDivision of Psychology & Mental Health, School of Health Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, University of Manchester, UK.
Rhona MacLeodManchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, UK.
Karen HarveyNewborn Intensive Care Unit, Liverpool Women's Hospital, UK.
Nicola BoothNewborn Intensive Care Unit, Manchester University NHS Foundation Trust, UK.
Leigh A M DemainManchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, UK.
Paul WilsonAlliance Manchester Business School, University of Manchester, UK.
Graeme C BlackManchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, UK.
Cynthia C MortonHearing Health Theme, Manchester NIHR Biomedical Research Centre, UK.
William G NewmanManchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, UK.
University of Manchester · GBManchester Academic Health Science Centre · GBManchester University NHS Foundation Trust · GBUniversity of Liverpool · GBBroad Institute · USSt Mary's Hospital · GB

Funding

TRAINING GRANT IN GENETICST32GM007748 · NIGMS · HARVARD UNIVERSITY (MEDICAL SCHOOL) · PI Anne O'Donnell-Luria, Louise Wilkins-Haug · 1985 to 2026
$12.0M
SEQuencing a Baby for an Optimal Outcome (SEQaBOO)R01DC015052 · NIDCD · BRIGHAM AND WOMEN'S HOSPITAL · PI MORTON, CYNTHIA CASSON · 2016 to 2020
$3.8M
Department of Health II-LB-0417-20002NIDCD NIH HHS R01 DC015052NIGMS NIH HHS T32 GM007748
6 · The paper itself

Abstract

Over the past two decades, significant technological advances have facilitated the identification of hundreds of genes associated with hearing loss. Variants in many of these genes result in severe congenital hearing loss with profound implications for the affected individual and their family. This review collates these advances, summarizing the current state of genomic knowledge in childhood hearing loss. We consider how current and emerging genetic technologies have the potential to alter our approach to the management and diagnosis of hearing loss. We review approaches being taken to ensure that these discoveries are used in clinical practice to detect genetic hearing loss as soon as possible to reduce unnecessary investigations, provide information about reproductive risks, and facilitate regular follow-up and early treatment. We also highlight how rapid sequencing technology has the potential to identify children susceptible to antibiotic-induced hearing loss and how this adverse reaction can be avoided.

Indexed as

GenomicsChildHearing LossHumanscongenitalgeneticsgenomicshearing lossscreening

Identifiers

PMID31621509
PMCPMC6798159
OpenAlexW2972950263

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.