Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting
@article{Betancur2011EtiologicalHI, title={Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting}, author={Catalina Betancur}, journal={Brain Research}, year={2011}, volume={1380}, pages={42-77} }
821 Citations
Etiological heterogeneity in autism spectrum disorders: role of rare variants
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- 2013
The Genetic Basis of Autism Spectrum Disorder
- Biology, Psychology
- 2015
The genetic evaluation of all patients with ASD is now required due to recent advances in knowledge regarding the genetic factors involved in the etiology of autism.
Copy number variants in autism spectrum disorders
- Biology, PsychologyProgress in Neuro-Psychopharmacology and Biological Psychiatry
- 2019
Autism Spectrum Disorder Genetics: Diverse Genes with Diverse Clinical Outcomes
- BiologyHarvard review of psychiatry
- 2014
Findings collectively provide compelling empirical data that the genetic basis of ASD is highly heterogeneous, with hundreds of genes capable of conferring varying degrees of risk, depending on their nature and the predisposing genetic alteration.
Genetic architecture in autism spectrum disorder.
- Biology, PsychologyCurrent opinion in genetics & development
- 2012
Molecular aspects of autism spectrum disorders
- Psychology, Biology
- 2014
Autism does not fit the criteria of known patterns of inheritance, and for the majority of patients polygenic model of inheritance with many interacting genes is the most probable.
[Molecular aspects of autism spectrum disorders].
- Psychology, BiologyPsychiatria polska
- 2014
It is estimated that a specific genetic etiology can be determined in up to 20% of individuals with ASD, and for families where a specific etiology has been identified, the risk of recurrence in siblings generally depends on the etiologic diagnosis.
Autism spectrum disorders: The quest for genetic syndromes
- Medicine, PsychologyAmerican journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
- 2013
This review paper critically examines the prevalence and characteristics of the main genetic syndromes, as well as the possible mechanisms for their association with ASD.
Syndromic autism spectrum disorders: moving from a clinically defined to a molecularly defined approach
- Medicine, PsychologyDialogues in clinical neuroscience
- 2017
The syndromic versus nonsyndromic designation should ultimately be replaced by classification of ASD according to its genetic etiology, which will inform about the associated spectrum and penetrance of neurobehavioral and somatic manifestations.
Genetic risk in autism: new associations and clinical testing.
- Biology, PsychologyExpert opinion on medical diagnostics
- 2011
The article presents the replicated genetic risk factors for ASD and the clinical relevance of these findings focusing on rare copy number variations and single gene mutations and provides an algorithm for clinical genetic testing in individuals who are clinically diagnosed with ASD.
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