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 …

Sex and gender in neurodevelopmental conditions

S Bölte, J Neufeld, PB Marschik, ZJ Williams… - Nature Reviews …, 2023 - nature.com
Health-related conditions often differ qualitatively or quantitatively between individuals of
different birth-assigned sexes and gender identities, and/or with different gendered …

Rare coding variation provides insight into the genetic architecture and phenotypic context of autism

JM Fu, FK Satterstrom, M Peng, H Brand, RL Collins… - Nature …, 2022 - nature.com
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 …

Genomic architecture of autism from comprehensive whole-genome sequence annotation

B Trost, B Thiruvahindrapuram, AJS Chan… - Cell, 2022 - cell.com
Fully understanding autism spectrum disorder (ASD) genetics requires whole-genome
sequencing (WGS). We present the latest release of the Autism Speaks MSSNG resource …

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 …

Genetic mosaicism in the human brain: from lineage tracing to neuropsychiatric disorders

S Bizzotto, CA Walsh - Nature Reviews Neuroscience, 2022 - nature.com
Genetic mosaicism is the result of the accumulation of somatic mutations in the human
genome starting from the first postzygotic cell generation and continuing throughout the …

5-methylcytosine RNA methyltransferases and their potential roles in cancer

M Li, Z Tao, Y Zhao, L Li, J Zheng, Z Li… - Journal of translational …, 2022 - Springer
Abstract In recent years, 5-methylcytosine (m5C) RNA modification has emerged as a key
player in regulating RNA metabolism and function through coding as well as non-coding …

The RNA methyltransferase NSUN2 and its potential roles in cancer

A Chellamuthu, SG Gray - Cells, 2020 - mdpi.com
5-methylcytosine is often associated as an epigenetic modifier in DNA. However, it is also
found increasingly in a plethora of RNA species, predominantly transfer RNAs, but …

RNA methylations in human cancers

X Han, M Wang, YL Zhao, Y Yang, YG Yang - Seminars in cancer biology, 2021 - Elsevier
RNA methylations, as the prevalent post-transcriptional modifications, are critical in
regulating various biological processes, such as RNA transcription, splicing, structure …

Genetic contributions to autism spectrum disorder

A Havdahl, M Niarchou, A Starnawska… - Psychological …, 2021 - cambridge.org
Autism spectrum disorder (autism) is a heterogeneous group of neurodevelopmental
conditions characterized by early childhood-onset impairments in communication and social …