Evidence map›Paper›PMID 30736458›Full record

ArticleJournal of clinical medicine2019

Analysis of a Sardinian Multiplex Family with Autism Spectrum Disorder Points to Post-Synaptic Density Gene Variants and Identifies

Elena Bacchelli, Eleonora Loi, Cinzia Cameli, Loredana Moi, Ana Florencia Vega-Benedetti, Sylvain Blois, Antonio Fadda, Elena Bonora, Sandra Mattu, Roberta Fadda and 4 more

Open access · goldAbstract read
In one paragraph

Article in Journal of clinical medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed
8.1field-weighted citation impact, top 2% 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

15 citing papers in PubMed, 48 citations in OpenAlex.

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  6. EnhancingGenes · 2022
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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

14 authors at 4 institutions in 1 country.

Elena BacchelliDepartment of Pharmacy and Biotechnology, University of Bologna, 40126 Bologna, Italy. elena.bacchelli@unibo.it.ORCID 0000-0001-8800-9568
Eleonora LoiDepartment of Biomedical Sciences, Unit of Biology and Genetics, University of Cagliari, 09042 Cagliari, Italy. e.loi14@studenti.unica.it.
Cinzia CameliDepartment of Pharmacy and Biotechnology, University of Bologna, 40126 Bologna, Italy. cinzia.cameli@gmail.com.ORCID 0000-0003-2856-0686
Loredana MoiDepartment of Biomedical Sciences, Unit of Biology and Genetics, University of Cagliari, 09042 Cagliari, Italy. lorymoi@gmail.com.
Ana Florencia Vega-BenedettiDepartment of Biomedical Sciences, Unit of Biology and Genetics, University of Cagliari, 09042 Cagliari, Italy. aflvegabe@gmail.com.
Sylvain BloisDepartment of Biomedical Sciences, Unit of Biology and Genetics, University of Cagliari, 09042 Cagliari, Italy. slvbls@gmail.com.
Antonio FaddaDepartment of Biomedical Sciences, Unit of Biology and Genetics, University of Cagliari, 09042 Cagliari, Italy. fadda85@gmail.com.
Elena BonoraDepartment of Medical and Surgical Sciences, DIMEC, St. Orsola-Malpighi Hospital, University of Bologna, 40138 Bologna, Italy. elena.bonora6@unibo.it.
Sandra MattuDepartment of Biomedical Sciences, Unit of Oncology and Molecular Pathology, University of Cagliari, 09124 Cagliari, Italy. mattu.sandra@yahoo.it.
Roberta FaddaDepartment of Pedagogy, Psychology, Philosophy, University of Cagliari, 09123 Cagliari, Italy. robfadda@gmail.com.
Rita ChessaCenter for Pervasive Developmental Disorders, AO Brotzu, 09134 Cagliari, Italy. richess@libero.it.
Elena MaestriniDepartment of Pharmacy and Biotechnology, University of Bologna, 40126 Bologna, Italy. elena.maestrini@unibo.it.ORCID 0000-0001-5924-3179
Giuseppe DonedduCenter for Pervasive Developmental Disorders, AO Brotzu, 09134 Cagliari, Italy. iosettodoneddu@aob.it.
Patrizia ZavattariDepartment of Biomedical Sciences, Unit of Biology and Genetics, University of Cagliari, 09042 Cagliari, Italy. pzavattari@unica.it.ORCID 0000-0001-8800-9568
University of Cagliari · ITUniversity of Bologna · ITAzienda Ospedaliera G. Brotzu · ITIRCCS Azienda Ospedliero-Universitaria di Bologna Policlinico di Sant'Orsola · IT

Funding

Associazione Italiana Studio Malformazioni (ASM) 2010Fondazione Banco di Sardegna 1175/2009.0470Fondo per la Ricerca Fondamentale Orientata (ex quota 60%), Università di Bologna 2010-2018Fondo per la Ricerca Locale (ex 60%), Università di Cagliari 2010-2018
6 · The paper itself

Abstract

Autism spectrum disorders (ASDs) are a group of neurodevelopmental disorders with high heritability, although their underlying genetic factors are still largely unknown. Here we present a comprehensive genetic characterization of two ASD siblings from Sardinia by genome-wide copy number variation analysis and whole exome sequencing (WES), to identify novel genetic alterations associated with this disorder. Single nucleotide polymorphism (SNP) array data revealed a rare microdeletion involving

Indexed as

ASDautism spectrum disorderCAPGpostsynaptic density proteinsPSD proteinsVDAC3

Identifiers

PMID30736458
PMCPMC6406497
OpenAlexW2912541121

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.