Evidence map›Paper›PMID 39596641›Full record

ArticleGenes2024

Looks Can Be Deceiving: Diagnostic Power of Exome Sequencing in Debunking 15q11.2 Copy Number Variations.

Camilla Meossi, Alessia Carrer, Claudia Ciaccio, Laura Pezzoli, Lidia Pezzani, Rosa Maria Silipigni, Francesca L Sciacca, Romano Tenconi, Silvia Esposito, Arianna De Laurentiis and 6 more

Abstract read
In one paragraph

Article in Genes, 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

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

16 authors.

Camilla MeossiFondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20100 Milan, Italy.ORCID 0000-0002-6574-9608
Alessia CarrerDepartment of Health Sciences, University of Milan, 20100 Milan, Italy.ORCID 0000-0002-2638-9910
Claudia CiaccioFondazione IRCCS Istituto Neurologico C. Besta, 20100 Milan, Italy.ORCID 0000-0002-4100-7028
Laura PezzoliLaboratory of Medical Genetics, ASST Papa Giovanni XXIII, 24100 Bergamo, Italy.ORCID 0000-0002-8111-563X
Lidia PezzaniFondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20100 Milan, Italy.ORCID 0000-0002-4601-2985
Rosa Maria SilipigniFondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20100 Milan, Italy.
Francesca L SciaccaFondazione IRCCS Istituto Neurologico C. Besta, 20100 Milan, Italy.
Romano TenconiClinical Genetics Unit, Department of Women and Children's Health, University of Padova, 35100 Padova, Italy.
Silvia EspositoFondazione IRCCS Istituto Neurologico C. Besta, 20100 Milan, Italy.ORCID 0000-0002-6330-2562
Arianna De LaurentiisFondazione IRCCS Istituto Neurologico C. Besta, 20100 Milan, Italy.
Chiara PantaleoniFondazione IRCCS Istituto Neurologico C. Besta, 20100 Milan, Italy.
Paola MarchisioFondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20100 Milan, Italy.
Federica NatacciFondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20100 Milan, Italy.ORCID 0000-0002-8625-3089
Stefano D'ArrigoFondazione IRCCS Istituto Neurologico C. Besta, 20100 Milan, Italy.ORCID 0000-0001-5188-9418
Maria IasconeLaboratory of Medical Genetics, ASST Papa Giovanni XXIII, 24100 Bergamo, Italy.
Donatella MilaniFondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20100 Milan, Italy.ORCID 0000-0002-3087-8514

Funding

This study was partially funded by Italian Ministry of Health - Current research IRCCS Current research IRCCS
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Autism Spectrum DisorderChromosomes, Human, Pair 15DNA Copy Number VariationsExome SequencingAdolescentChildChild, PreschoolChromosome DeletionChromosome DuplicationExomeFemaleGenetic TestingHumansInfantIntellectual DisabilityMale15q11.2 microdeletion15q11.2 microduplicationalternative diagnosisBP1-BP2 CNVsdouble diagnosisexome sequencingrare diseases

Identifiers

PMID39596641
PMCPMC11594224

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.