Evidence map›Paper›PMID 35008666›Full record

ArticleInternational journal of molecular sciences2021

Novel Homozygous Missense Variant in

Abdullah Y Hassan, Sairah Yousaf, Moran R Levin, Osamah J Saeedi, Saima Riazuddin, Janet L Alexander, Zubair M Ahmed

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of molecular sciences, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.3field-weighted citation impact, top 43% 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

4 citing papers in PubMed, 6 citations in OpenAlex.

  1. Genes · 2026
    Article
  2. Candidate Genes for Non-Syndromic Pediatric Cataracts.Clinical ophthalmology (Auckland, N.Z.) · 2026
    Review
  3. Article
  4. 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

7 authors at 1 institution in 1 country.

Abdullah Y HassanDepartment of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD 21201, USA.
Sairah YousafDepartment of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD 21201, USA.
Moran R LevinDepartment of Ophthalmology and Visual Sciences, School of Medicine, University of Maryland, Baltimore, MD 21201, USA.
Osamah J SaeediDepartment of Ophthalmology and Visual Sciences, School of Medicine, University of Maryland, Baltimore, MD 21201, USA.ORCID 0000-0002-3082-4604
Saima RiazuddinDepartment of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD 21201, USA.
Janet L AlexanderDepartment of Ophthalmology and Visual Sciences, School of Medicine, University of Maryland, Baltimore, MD 21201, USA.
Zubair M AhmedDepartment of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD 21201, USA.ORCID 0000-0003-2914-4502
University of Maryland, Baltimore · US

Funding

Molecular Determinants of Usher Syndrome Disorder in HumansR01DC016295 · NIDCD · UNIVERSITY OF MARYLAND BALTIMORE · PI AHMED, ZUBAIR M. · 2018 to 2022
$2.7M
MOLECULAR GENETICS OF USHER SYNDROME TYPE IR00DC009287 · NIDCD · CINCINNATI CHILDRENS HOSP MED CTR · PI AHMED, ZUBAIR M. · 2009 to 2011
$732k
NIDCD NIH HHS R00 DC009287NIDCD NIH HHS R01 DC016295
6 · The paper itself

Abstract

Congenital cataracts (CC) are responsible for approximately one-tenth of childhood blindness cases globally. Here, we report an African American family with a recessively inherited form of CC. The proband demonstrated decreased visual acuity and bilateral cataracts, with nuclear and cortical cataracts in the right and left eye, respectively. Exome sequencing revealed a novel homozygous variant (c.563A > G; p.(Asn188Ser)) in

Indexed as

Amino Acid SequenceBase SequenceCataractChildConnexinsFemaleHomozygoteHumansMutation, MissenseProtein DomainsConnexinsGJA3 protein, humanAfrican Americancongenital cataractcortical cataractexome sequencingGJA3nuclear cataract

Identifiers

PMID35008666
PMCPMC8745576
OpenAlexW4200412300

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.