Evidence map›Paper›PMID 36672520›Full record

ArticleBiomedicines2022

A Novel Frameshift

Jorge Diogo Da Silva, Natália Oliva-Teles, Nataliya Tkachenko, Joana Fino, Mariana Marques, Ana Maria Fortuna, Dezso David

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

Article in Biomedicines, 2022. 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
0.4field-weighted citation impact, top 31% 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

0 citing papers in PubMed, 2 citations in OpenAlex.

No citing paper in PubMed yet.

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 2 institutions in 1 country.

Jorge Diogo Da SilvaCentro de Genética Médica Jacinto de Magalhães (CGM), Centro Hospitalar Universitário do Porto (CHUPorto), 4099-001 Porto, Portugal.ORCID 0000-0001-7863-0406
Natália Oliva-TelesCentro de Genética Médica Jacinto de Magalhães (CGM), Centro Hospitalar Universitário do Porto (CHUPorto), 4099-001 Porto, Portugal.ORCID 0000-0002-1295-3701
Nataliya TkachenkoCentro de Genética Médica Jacinto de Magalhães (CGM), Centro Hospitalar Universitário do Porto (CHUPorto), 4099-001 Porto, Portugal.
Joana FinoDepartment of Human Genetics, National Health Institute Doutor Ricardo Jorge, Av. Padre Cruz, 1600-609 Lisbon, Portugal.
Mariana MarquesDepartment of Human Genetics, National Health Institute Doutor Ricardo Jorge, Av. Padre Cruz, 1600-609 Lisbon, Portugal.
Ana Maria FortunaCentro de Genética Médica Jacinto de Magalhães (CGM), Centro Hospitalar Universitário do Porto (CHUPorto), 4099-001 Porto, Portugal.
Dezso DavidUMIB-Unidade Multidisciplinar de Investigação Biomédica, ICBAS-Instituto de Ciências Biomédicas Abel Salazar, Universidade do Porto, 4050-345 Porto, Portugal.
Universidade do Porto · PTNational Institute of Health Dr. Ricardo Jorge · PT

Funding

Fundação para a Ciência e Tecnologia HMSP-ICT/0016/2013Fundação para a Ciência e Tecnologia LA/P/0064/2020Fundação para a Ciência e Tecnologia UIDP/00215/2020
6 · The paper itself

Abstract

The genetic complexity of neurodevelopmental disorders (NDD), combined with a heterogeneous clinical presentation, makes accurate assessment of their molecular bases and pathogenic mechanisms challenging. Our purpose is to reveal the pathogenic variant underlying a complex NDD through identification of the "full" spectrum of structural genomic and genetic variants. Therefore, clinical phenotyping and identification of variants by genome and exome sequencing, together with comprehensive assessment of these and affected candidate genes, were carried out. A maternally-inherited familial translocation [t(17;19)(p13.1;p13.3)mat] disrupting the GSG1 like 2 gene (

Indexed as

CHD4-associated ND phenotypedup(2)(q14.3q21.1)familial translocationframeshift CHD4 variantGSG1L2Sifrim–Hitz–Weiss syndrome

Identifiers

PMID36672520
PMCPMC9855399
OpenAlexW4313574335

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.