Evidence map›Paper›PMID 37510307›Full record

ArticleGenes2023

The Carrier Frequency of Two

Joanne E Davidson, Jacqueline S Russell, Noelia Nunez Martinez, David R Mowat, Kristi J Jones, Edwin P Kirk, Didu Kariyawasam, Michelle Farrar, Arlene D'Silva

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

Article in Genes, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.9field-weighted citation impact, top 23% 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

3 citing papers in PubMed, 3 citations in OpenAlex.

  1. Article
  2. Article
  3. 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

9 authors at 4 institutions in 1 country.

Joanne E DavidsonDepartment of Neurology, Sydney Children's Hospitals Network, Sydney, NSW 2031, Australia.
Jacqueline S RussellCentre for Clinical Genetics, Sydney Children's Hospital, Randwick, Sydney, NSW 2031, Australia.
Noelia Nunez MartinezCentre for Clinical Genetics, Sydney Children's Hospital, Randwick, Sydney, NSW 2031, Australia.
David R MowatCentre for Clinical Genetics, Sydney Children's Hospital, Randwick, Sydney, NSW 2031, Australia.
Kristi J JonesDepartment of Clinical Genetics, The Children's Hospital at Westmead, and Discipline of Paediatrics and Child Health, University of Sydney, Sydney, NSW 2006, Australia.
Edwin P KirkCentre for Clinical Genetics, Sydney Children's Hospital, Randwick, Sydney, NSW 2031, Australia.
Didu KariyawasamDepartment of Neurology, Sydney Children's Hospitals Network, Sydney, NSW 2031, Australia.
Michelle FarrarDepartment of Neurology, Sydney Children's Hospitals Network, Sydney, NSW 2031, Australia.ORCID 0000-0002-4472-0902
Arlene D'SilvaDepartment of Neurology, Sydney Children's Hospitals Network, Sydney, NSW 2031, Australia.
UNSW Sydney · AUSydney Children's Hospital · AUSydney Children’s Hospitals Network · AUThe University of Sydney · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundCurrent carrier screening methods do not identify a proportion of carriers that may have children affected by spinal muscular atrophy (SMA). Additional genetic data is essential to inform accurate risk assessment and genetic counselling of SMA carriers. This study aims to quantify the various genotypes among parents of children with SMA.

methodA retrospective cohort study was undertaken at Sydney Children's Hospital Network, the major SMA referral centre for New South Wales, Australia. Participants included children with genetically confirmed SMA born between 2005 and 2021. Data was collected on parent genotype inclusive of copy number of

resultsSMA carrier testing was performed in 118/154 (76.6%) parents, incorporating 59 probands with homozygous

conclusionsThis study confirmed a small but substantial proportion of silent carriers not identified by conventional screening within an Australian context. Accordingly, the effectiveness of carrier screening for SMA is linked with genetic counselling to enable health literacy regarding high and low risk results and is complemented by new-born screening and maintaining clinical awareness for SMA. Gene conversion events may underpin the associations between parent carrier status and proband

Indexed as

Muscular Atrophy, SpinalAustraliaChildExonsHumansParentsRetrospective StudiesSurvival of Motor Neuron 1 ProteinSurvival of Motor Neuron 2 ProteinSMN1 protein, humanSMN2 protein, humanSurvival of Motor Neuron 1 ProteinSurvival of Motor Neuron 2 Proteincarrier frequencyreproductive carrier screeningsilent carrierspinal muscular atrophy

Identifiers

PMID37510307
PMCPMC10379112
OpenAlexW4383600298

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.