Genomics, convergent neuroscience and progress in understanding autism spectrum disorder

HR Willsey, AJ Willsey, B Wang…�- Nature Reviews�…, 2022 - nature.com
More than a hundred genes have been identified that, when disrupted, impart large risk for
autism spectrum disorder (ASD). Current knowledge about the encoded proteins—although�…

[HTML][HTML] Autism spectrum disorder at the crossroad between genes and environment: contributions, convergences, and interactions in ASD developmental�…

C Cheroni, N Caporale, G Testa�- Molecular autism, 2020 - Springer
The complex pathophysiology of autism spectrum disorder encompasses interactions
between genetic and environmental factors. On the one hand, hundreds of genes�…

[HTML][HTML] Multi-level analysis of the gut–brain axis shows autism spectrum disorder-associated molecular and microbial profiles

JT Morton, DM Jin, RH Mills, Y Shao, G Rahman…�- Nature�…, 2023 - nature.com
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by
heterogeneous cognitive, behavioral and communication impairments. Disruption of the gut�…

[HTML][HTML] Inferring the molecular and phenotypic impact of amino acid variants with MutPred2

V Pejaver, J Urresti, J Lugo-Martinez, KA Pagel…�- Nature�…, 2020 - nature.com
Identifying pathogenic variants and underlying functional alterations is challenging. To this
end, we introduce MutPred2, a tool that improves the prioritization of pathogenic amino acid�…

[HTML][HTML] Autism spectrum disorder: neurodevelopmental risk factors, biological mechanism, and precision therapy

L Wang, B Wang, C Wu, J Wang, M Sun�- International journal of�…, 2023 - mdpi.com
Autism spectrum disorder (ASD) is a heterogeneous, behaviorally defined
neurodevelopmental disorder. Over the past two decades, the prevalence of autism�…

[HTML][HTML] iPSC-based disease modeling and drug discovery in cardinal neurodegenerative disorders

H Okano, S Morimoto�- Cell Stem Cell, 2022 - cell.com
It has been 15 years since the birth of human induced pluripotent stem cell (iPSC)
technology in 2007, and the scope of its application has been expanding. In addition to the�…

New insights from the last decade of research in psychiatric genetics: discoveries, challenges and clinical implications

OA Andreassen, GFL Hindley, O Frei…�- World�…, 2023 - Wiley Online Library
Psychiatric genetics has made substantial progress in the last decade, providing new
insights into the genetic etiology of psychiatric disorders, and paving the way for precision�…

Patterns of de novo tandem repeat mutations and their role in autism

I Mitra, B Huang, N Mousavi, N Ma, M Lamkin…�- Nature, 2021 - nature.com
Autism spectrum disorder (ASD) is an early-onset developmental disorder characterized by
deficits in communication and social interaction and restrictive or repetitive behaviours�…

[HTML][HTML] rs-fMRI and machine learning for ASD diagnosis: a systematic review and meta-analysis

CP Santana, EA de Carvalho, ID Rodrigues…�- Scientific reports, 2022 - nature.com
Abstract Autism Spectrum Disorder (ASD) diagnosis is still based on behavioral criteria
through a lengthy and time-consuming process. Much effort is being made to identify brain�…

[HTML][HTML] Insufficient evidence for “autism-specific” genes

SM Myers, TD Challman, R Bernier, T Bourgeron…�- The American Journal of�…, 2020 - cell.com
Despite evidence that deleterious variants in the same genes are implicated across multiple
neurodevelopmental and neuropsychiatric disorders, there has been considerable interest�…