Literature DB >> 32037010

Genetic Variation across Phenotypic Severity of Autism.

Claudio Toma1.   

Abstract

It is still unclear how genetic factors of autism spectrum disorder (ASD) are implicated in the significant clinical heterogeneity ranging from intellectual disability (ID) to high-functioning profiles. Here, evidence from recent genetic studies encompassing common and rare variants are combined to suggest a genetic model that may explain the broad gradient of phenotypic severity observed in ASD.
Copyright © 2020 Elsevier Ltd. All rights reserved.

Entities:  

Keywords:  autism spectrum disorder; common variants; gene-truncating alleles; genetics; intellectual disability; next-generation sequencing

Mesh：

Year:  2020        PMID： 32037010     DOI： 10.1016/j.tig.2020.01.005

Source DB:  PubMed          Journal:  Trends Genet        ISSN： 0168-9525            Impact factor:   11.639


  5 in total

Review 1.  The Relationship between Autism and Ehlers-Danlos Syndromes/Hypermobility Spectrum Disorders.

Authors:  Emily L Casanova; Carolina Baeza-Velasco; Caroline B Buchanan; Manuel F Casanova
Journal:  J Pers Med       Date:  2020-12-01

Review 2.  Genetic and molecular biology of autism spectrum disorder among Middle East population: a review.

Authors:  Zahra Rahmani; Mohammad Reza Fayyazi Bordbar; Mohsen Dibaj; Maliheh Alimardani; Meysam Moghbeli
Journal:  Hum Genomics       Date:  2021-03-12       Impact factor: 4.639

3.  Yield of array-CGH analysis in Tunisian children with autism spectrum disorder.

Authors:  Fethia Chehbani; Pasquale Tomaiuolo; Chiara Picinelli; Marco Baccarin; Paola Castronovo; Maria Luisa Scattoni; Naoufel Gaddour; Antonio M Persico
Journal:  Mol Genet Genomic Med       Date:  2022-06-27       Impact factor: 2.473

Review 4.  The Role of Genetics, Epigenetics, and the Environment in ASD: A Mini Review.

Authors:  Asim A Khogeer; Iman S AboMansour; Dia A Mohammed
Journal:  Epigenomes       Date:  2022-06-19

5.  Involvement of the 14-3-3 Gene Family in Autism Spectrum Disorder and Schizophrenia: Genetics, Transcriptomics and Functional Analyses.

Authors:  Bàrbara Torrico; Ester Antón-Galindo; Noèlia Fernàndez-Castillo; Eva Rojo-Francàs; Sadaf Ghorbani; Laura Pineda-Cirera; Amaia Hervás; Isabel Rueda; Estefanía Moreno; Janice M Fullerton; Vicent Casadó; Jan K Buitelaar; Nanda Rommelse; Barbara Franke; Andreas Reif; Andreas G Chiocchetti; Christine Freitag; Rune Kleppe; Jan Haavik; Claudio Toma; Bru Cormand
Journal:  J Clin Med       Date:  2020-06-13       Impact factor: 4.241
  5 in total

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