Finding the genomic basis of local adaptation: pitfalls, practical solutions, and future directions

S Hoban, JL Kelley, KE Lotterhos… - The American …, 2016 - journals.uchicago.edu
Uncovering the genetic and evolutionary basis of local adaptation is a major focus of
evolutionary biology. The recent development of cost-effective methods for obtaining high …

The role of GABAergic signalling in neurodevelopmental disorders

X Tang, R Jaenisch, M Sur - Nature Reviews Neuroscience, 2021 - nature.com
GABAergic inhibition shapes the connectivity, activity and plasticity of the brain. A series of
exciting new discoveries provides compelling evidence that disruptions in a number of key …

A copy number variation map of the human genome

M Zarrei, JR MacDonald, D Merico… - Nature reviews …, 2015 - nature.com
A major contribution to the genome variability among individuals comes from deletions and
duplications—collectively termed copy number variations (CNVs)—which alter the diploid …

[HTML][HTML] Synaptopathology involved in autism spectrum disorder

S Guang, N Pang, X Deng, L Yang, F He… - Frontiers in cellular …, 2018 - frontiersin.org
Autism spectrum disorder (ASD) encompasses a group of multifactorial neurodevelopmental
disorders characterized by impaired social communication, social interaction and repetitive …

[HTML][HTML] Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24. 32 and a significant overlap with …

Molecular autism, 2017 - Springer
Background Over the past decade genome-wide association studies (GWAS) have been
applied to aid in the understanding of the biology of traits. The success of this approach is …

[HTML][HTML] Genetics and epigenetics of autism spectrum disorder—current evidence in the field

B Wiśniowiecka-Kowalnik, BA Nowakowska - Journal of applied genetics, 2019 - Springer
Autism spectrum disorders (ASD) is a heterogenous group of neurodevelopmental disorders
characterized by problems in social interaction and communication as well as the presence …

[HTML][HTML] Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing

Y Jiang, RKC Yuen, X Jin, M Wang, N Chen… - The American Journal of …, 2013 - cell.com
Autism Spectrum Disorder (ASD) demonstrates high heritability and familial clustering, yet
the genetic causes remain only partially understood as a result of extensive clinical and …

[HTML][HTML] Genome sequencing of autism-affected families reveals disruption of putative noncoding regulatory DNA

TN Turner, F Hormozdiari, MH Duyzend… - The American Journal of …, 2016 - cell.com
We performed whole-genome sequencing (WGS) of 208 genomes from 53 families affected
by simplex autism. For the majority of these families, no copy-number variant (CNV) or …

[HTML][HTML] Maternal plasma folate impacts differential DNA methylation in an epigenome-wide meta-analysis of newborns

BR Joubert, HT Den Dekker, JF Felix, J Bohlin… - Nature …, 2016 - nature.com
Folate is vital for fetal development. Periconceptional folic acid supplementation and food
fortification are recommended to prevent neural tube defects. Mechanisms whereby …

[HTML][HTML] A large data resource of genomic copy number variation across neurodevelopmental disorders

M Zarrei, CL Burton, W Engchuan, EJ Young… - NPJ genomic …, 2019 - nature.com
Copy number variations (CNVs) are implicated across many neurodevelopmental disorders
(NDDs) and contribute to their shared genetic etiology. Multiple studies have attempted to …