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 …

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 …

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 …

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 …

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 …

The contributions of rare inherited and polygenic risk to ASD in multiplex families

M Cirnigliaro, TS Chang, SA Arteaga… - Proceedings of the …, 2023 - pnas.org
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 …

Functional neurogenomics in autism spectrum disorders: A decade of progress

LK Bicks, DH Geschwind - Current Opinion in Neurobiology, 2024 - Elsevier
Advances in autism spectrum disorder (ASD) genetics have identified many genetic causes,
reflecting remarkable progress while at the same time identifying challenges such as …

[HTML][HTML] The female protective effect against autism spectrum disorder

EM Wigdor, DJ Weiner, J Grove, JM Fu, WK Thompson… - Cell Genomics, 2022 - cell.com
Autism spectrum disorder (ASD) is diagnosed three to four times more frequently in males
than in females. Genetic studies of rare variants support a female protective effect (FPE) …

Brain organoid protocols and limitations

HH Zhao, G Haddad - Frontiers in Cellular Neuroscience, 2024 - frontiersin.org
Stem cell-derived organoid technology is a powerful tool that revolutionizes the field of
biomedical research and extends the scope of our understanding of human biology and …

[HTML][HTML] The impact of paternal age on new mutations and disease in the next generation

KA Wood, A Goriely - Fertility and Sterility, 2022 - Elsevier
Advanced paternal age is associated with an increased risk of fathering children with
genetic disorders and other adverse reproductive consequences. However, the mechanisms …