Evidence map›Paper›PMID 38947059›Full record

ArticleResearch square2024

Human Organoids for Rapid Validation of Gene Variants Linked to Cochlear Malformations.

Mohammad Faraz Zafeer, Memoona Ramzan, Duygu Duman, Ahmet Mutlu, Serhat Seyhan, Tayyar Kalcioglu, Suat Fitoz, Brooke A DeRosa, Shengru Guo, Derek M Dykxhoorn and 1 more

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in Research square, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

11 authors.

Mohammad Faraz ZafeerUniversity of Miami Miller School of Medicine.
Memoona RamzanUniversity of Miami Miller School of Medicine.
Duygu DumanAnkara University Faculty of Health Sciences.
Ahmet MutluIstanbul Medeniyet University.
Serhat SeyhanMemorial Şişli Hospital.
Tayyar KalciogluIstanbul Medeniyet University.
Suat FitozAnkara University School of Medicine.
Brooke A DeRosaUniversity of Miami Miller School of Medicine.
Shengru GuoUniversity of Miami Miller School of Medicine.
Derek M DykxhoornUniversity of Miami Miller School of Medicine.
Mustafa TekinUniversity of Miami Miller School of Medicine.

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
Genetic Studies of Inner Ear AnomaliesR01DC012836 · NIDCD · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI TEKIN, MUSTAFA · 2013 to 2017
$3.2M
NIDCD NIH HHS R01 DC009645NIDCD NIH HHS R01 DC012836
6 · The paper itself

Abstract

Developmental anomalies of the hearing organ, the cochlea, are diagnosed in approximately one-fourth of individuals with congenital deafness. Most patients with cochlear malformations remain etiologically undiagnosed due to insufficient knowledge about underlying genes or the inability to make conclusive interpretations of identified genetic variants. We used exome sequencing for genetic evaluation of hearing loss associated with cochlear malformations in three probands from unrelated families. We subsequently generated monoclonal induced pluripotent stem cell (iPSC) lines, bearing patient-specific knockins and knockouts using CRISPR/Cas9 to assess pathogenicity of candidate variants. We detected

Indexed as

Candidate geneCochlear malformationCRISPR/Cas9DeafnessInner ear anomalyiPSCOrganoidsVariants of uncertain significance

Identifiers

PMID38947059
PMCPMC11213182

What Socratic 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 Socratic graph.