Evidence map›Paper›PMID 33050239›Full record

ArticleJournal of personalized medicine2020

Evaluation of Chromosome Microarray Analysis in a Large Cohort of Females with Autism Spectrum Disorders: A Single Center Italian Study.

Sara Calderoni, Ivana Ricca, Giulia Balboni, Romina Cagiano, Denise Cassandrini, Stefano Doccini, Angela Cosenza, Deborah Tolomeo, Raffaella Tancredi, Filippo Maria Santorelli and 1 more

Open access · goldAbstract read
In one paragraph

Article in Journal of personalized medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
1.0field-weighted citation impact, top 25% 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

10 citing papers in PubMed, 12 citations in OpenAlex.

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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

11 authors at 3 institutions in 1 country.

Sara CalderoniDepartment of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Viale del Tirreno 331, Calambrone, 56128 Pisa, Italy.
Ivana RiccaMolecular Medicine, IRCCS Fondazione Stella Maris, via dei Giacinti 2, Calambrone, 56128 Pisa, Italy.
Giulia BalboniDepartment of Philosophy, Social and Human Sciences and Education, University of Perugia, Piazza G. Ermini 1, 06123 Perugia, Italy.
Romina CagianoDepartment of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Viale del Tirreno 331, Calambrone, 56128 Pisa, Italy.
Denise CassandriniMolecular Medicine, IRCCS Fondazione Stella Maris, via dei Giacinti 2, Calambrone, 56128 Pisa, Italy.
Stefano DocciniMolecular Medicine, IRCCS Fondazione Stella Maris, via dei Giacinti 2, Calambrone, 56128 Pisa, Italy.
Angela CosenzaDepartment of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Viale del Tirreno 331, Calambrone, 56128 Pisa, Italy.
Deborah TolomeoMolecular Medicine, IRCCS Fondazione Stella Maris, via dei Giacinti 2, Calambrone, 56128 Pisa, Italy.
Raffaella TancrediDepartment of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Viale del Tirreno 331, Calambrone, 56128 Pisa, Italy.
Filippo Maria SantorelliMolecular Medicine, IRCCS Fondazione Stella Maris, via dei Giacinti 2, Calambrone, 56128 Pisa, Italy.
Filippo MuratoriDepartment of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Viale del Tirreno 331, Calambrone, 56128 Pisa, Italy.
Fondazione Stella Maris · ITUniversity of Pisa · ITUniversity of Perugia · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Autism spectrum disorders (ASD) encompass a heterogeneous group of neurodevelopmental disorders resulting from the complex interaction between genetic and environmental factors. Thanks to the chromosome microarray analysis (CMA) in clinical practice, the accurate identification and characterization of submicroscopic deletions/duplications (copy number variants, CNVs) associated with ASD was made possible. However, the widely acknowledged excess of males on the autism spectrum reflects on a paucity of CMA studies specifically focused on females with ASD (f-ASD). In this framework, we aim to evaluate the frequency of causative CNVs in a single-center cohort of idiopathic f-ASD. Among the 90 f-ASD analyzed, we found 20 patients with one or two potentially pathogenic CNVs, including those previously associated with ASD (located at 16

Indexed as

Array-Comparative Genomic Hybridization (Array-CGH)autism spectrum disorderscopy number variantsfemales

Identifiers

PMID33050239
PMCPMC7720139
OpenAlexW3092272070

What OpenQuestion holds

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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.