Special Issue "Genetic and Phenotypic Subtypes of Autism Spectrum Disorder"
Deadline for manuscript submissions: 20 February 2022.
Interests: autism genomics; deep pPhenotypes; autism subtypes; whole exome/genome sequencing; clinical genetics
Autism Spectrum Disorder (ASD) is a heterogeneous spectrum, both clinically and etiologically, making it a prime candidate for ‘precision medicine’ based on understanding of cause, rather than behaviours alone. The diagnosis of ASD does not imply etiology, but rather a complex constellation of behavioural and developmental symptoms of a group of conditions comprising discrete genetic, metabolic, congenital, and environmental causes. For complex genetic disorders, such as ASDs, it is important to identify biological markers that distinguish subtypes. For some disorders, this could be a phenotypic trait that is specific to one subgroup of individuals with the condition; for others, it could be a genomic, biochemical or chromosomal difference. With current genomics technologies, it is possible to capture a molecular profile of individuals with ASD through their DNA, gut and organ microbes, metabolomic by-products, and the physical and developmental outcomes caused by the interaction of these factors with the environment.
In this special issue we welcome contributions that integrate standardized metrics for subgrouping the ASD phenome (the sum of all phenotypic traits) with its genomic underpinnings. It is the aim of this issue to provide a deeper understanding of genetic and phenotypic subtypes of ASD that can serve as etiologically valid biomarkers for incisive molecular analyses of genes, and gene pathways, which underlie susceptibility to autism and its pathogenesis, that may ultimately enable early diagnosis and more precise, effective treatments.
Dr. M. E. Suzanne Lewis
Manuscript Submission Information
Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All papers will be peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.
Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.
Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2000 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.
- Next Generation Sequencing
- Deep Phenotypes
- Precision Medicine
- Gene Pathways