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] Characterization of gene regulatory elements in human fetal cortical development: Enhancing our understanding of neurodevelopmental disorders and …

Q Guo, S Wu, DH Geschwind - Developmental Neuroscience, 2024 - karger.com
The neocortex is the region that most distinguishes human brain from other mammals and
primates [Annu Rev Genet. 2021 Nov; 55 (1): 555–81]. Studying the development of human …

[HTML][HTML] Methods for Neuroscience Drug Development: Guidance on Standardization of the Process for Defining Clinical Outcome Strategies in Clinical Trials

SZ Domingo, J Alonso, M Ferrer, MT Acosta… - European …, 2024 - Elsevier
Neurosciences clinical trials continue to have notoriously high failure rates. Appropriate
outcomes selection in early clinical trials is key to maximizing the likelihood of identifying …

X-chromosome inactivation in human iPSCs provides insight into X-regulated gene expression in autosomes

H Topa, C Benoit-Pilven, T Tukiainen, O Pietiläinen - Genome Biology, 2024 - Springer
Background Variation in X chromosome inactivation (XCI) in human-induced pluripotent
stem cells (hiPSCs) can impact their ability to model biological sex biases. The gene-wise …

High-effect gene-coding variants impact cognition, mental well-being, and neighborhood safety substrates in brain morphology

J Kopal, G Huguet, J Marotta, S Aggarwal, N Osayande… - medRxiv, 2024 - medrxiv.org
Our genetic makeup, together with environmental and social influences, shape our brain's
development. Yet, the imaging genetics field has struggled to integrate all these modalities …

Dissecting the contribution of common variants to risk of rare neurodevelopmental conditions

QQ Huang, EM Wigdor, P Campbell, DS Malawsky… - medRxiv, 2024 - medrxiv.org
Although rare neurodevelopmental conditions have a large Mendelian component, common
genetic variants also contribute to risk. However, little is known about how this polygenic risk …