Genomics, convergent neuroscience and progress in understanding autism spectrum disorder
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 …
autism spectrum disorder (ASD). Current knowledge about the encoded proteins—although …
New and emerging approaches to treat psychiatric disorders
Psychiatric disorders are highly prevalent, often devastating diseases that negatively impact
the lives of millions of people worldwide. Although their etiological and diagnostic …
the lives of millions of people worldwide. Although their etiological and diagnostic …
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
Some individuals with autism spectrum disorder (ASD) carry functional mutations rarely
observed in the general population. We explored the genes disrupted by these variants from …
observed in the general population. We explored the genes disrupted by these variants from …
The contributions of rare inherited and polygenic risk to ASD in multiplex families
M Cirnigliaro, TS Chang, SA Arteaga… - Proceedings of the …, 2023 - National Acad Sciences
Autism spectrum disorder (ASD) has a complex genetic architecture involving contributions
from both de novo and inherited variation. Few studies have been designed to address the …
from both de novo and inherited variation. Few studies have been designed to address the …
The landscape of tolerated genetic variation in humans and primates
H Gao, T Hamp, J Ede, JG Schraiber, J McRae… - Science, 2023 - science.org
Personalized genome sequencing has revealed millions of genetic differences between
individuals, but our understanding of their clinical relevance remains largely incomplete. To …
individuals, but our understanding of their clinical relevance remains largely incomplete. To …
Molecular and network-level mechanisms explaining individual differences in autism spectrum disorder
The mechanisms underlying phenotypic heterogeneity in autism spectrum disorder (ASD)
are not well understood. Using a large neuroimaging dataset, we identified three latent …
are not well understood. Using a large neuroimaging dataset, we identified three latent …
[HTML][HTML] Genetic causes and modifiers of autism spectrum disorder
L Rylaarsdam, A Guemez-Gamboa - Frontiers in cellular …, 2019 - frontiersin.org
Autism Spectrum Disorder (ASD) is one of the most prevalent neurodevelopmental
disorders, affecting an estimated 1 in 59 children. ASD is highly genetically heterogeneous …
disorders, affecting an estimated 1 in 59 children. ASD is highly genetically heterogeneous …
Neurodevelopmental disorders—the history and future of a diagnostic concept
DJ Morris-Rosendahl, MA Crocq - Dialogues in clinical …, 2020 - Taylor & Francis
This article describes the history of the diagnostic class of neurodevelopmental disorders
(NDDs) up to DSM-5. We further analyze how the development of genetics will transform the …
(NDDs) up to DSM-5. We further analyze how the development of genetics will transform the …
[HTML][HTML] Signalling pathways in autism spectrum disorder: mechanisms and therapeutic implications
CC Jiang, LS Lin, S Long, XY Ke, K Fukunaga… - Signal transduction and …, 2022 - nature.com
Autism spectrum disorder (ASD) is a prevalent and complex neurodevelopmental disorder
which has strong genetic basis. Despite the rapidly rising incidence of autism, little is known …
which has strong genetic basis. Despite the rapidly rising incidence of autism, little is known …
[HTML][HTML] An overview of autism spectrum disorder, heterogeneity and treatment options
Since the documented observations of Kanner in 1943, there has been great debate about
the diagnoses, the sub-types, and the diagnostic threshold that relates to what is now known …
the diagnoses, the sub-types, and the diagnostic threshold that relates to what is now known …