Evidence map›Paper›PMID 36833228›Full record

ArticleGenes2023

Alessia Azzarà, Roberto Rumore, Fulvia Brugnoletti, Elisabetta Tabolacci, Irene Bottillo, Eugenio Sangiorgi, Fiorella Gurrieri

Open access · goldAbstract read
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. 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, top 99% 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, 0 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 4 institutions in 2 countries.

Alessia AzzaràResearch Unit of Medical Genetics, Department of Medicine and Surgery, Università Campus Bio-Medico di Roma, 00128 Rome, Italy.ORCID 0000-0003-3639-6687
Roberto RumoreIstituto di Medicina Genomica, Fondazione Policlinico Universitario A. Gemelli IRCCS-Università Cattolica del Sacro Cuore, 00168 Roma, Italy.
Fulvia BrugnolettiOncogenetics Unit, Service of Oncology, University Hospital of Geneva, 1205 Geneva, Switzerland.
Elisabetta TabolacciIstituto di Medicina Genomica, Fondazione Policlinico Universitario A. Gemelli IRCCS-Università Cattolica del Sacro Cuore, 00168 Roma, Italy.ORCID 0000-0002-4707-2242
Irene BottilloDivision of Medical Genetics, Department of Experimental Medicine, San Camillo-Forlanini Hospital, Sapienza University, 00152 Rome, Italy.
Eugenio SangiorgiIstituto di Medicina Genomica, Fondazione Policlinico Universitario A. Gemelli IRCCS-Università Cattolica del Sacro Cuore, 00168 Roma, Italy.ORCID 0000-0001-9079-9175
Fiorella GurrieriResearch Unit of Medical Genetics, Department of Medicine and Surgery, Università Campus Bio-Medico di Roma, 00128 Rome, Italy.
Università Cattolica del Sacro Cuore · ITUniversità Campus Bio-Medico · ITCarlo Forlanini Hospital · ITUniversity Hospital of Geneva · CH

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Asperger syndrome (AS) is a pervasive developmental disorder characterized by general impairment in socialization, stereotypical behavior, defective adaptation to the social context usually without intellectual disability, and some high functioning areas related to memory and mathematics. Clinical criteria are not well defined and the etiology is heterogeneous and mostly unknown. Like in typical autism spectrum disorders (ASD), the genetic background plays a crucial role in AS, and often an almost mendelian segregation can be observed in some families. We performed a whole exome sequencing (WES) in three relatives of a family with vertical transmission of AS-ASD to identify variants in candidate genes segregating with the phenotype. Variant p.(Cys834Ser) in the

Indexed as

Asperger SyndromeAutism Spectrum DisorderIntellectual DisabilityHumansPhenotypeProteinsProteinsAsperger syndromeautism spectrum disorderscandidate geneexome sequencing

Identifiers

PMID36833228
PMCPMC9957148
OpenAlexW4317809392

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.