Finding the genomic basis of local adaptation: pitfalls, practical solutions, and future directions
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 …
evolutionary biology. The recent development of cost-effective methods for obtaining high …
The role of GABAergic signalling in neurodevelopmental disorders
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 …
exciting new discoveries provides compelling evidence that disruptions in a number of key …
A copy number variation map of the human genome
A major contribution to the genome variability among individuals comes from deletions and
duplications—collectively termed copy number variations (CNVs)—which alter the diploid …
duplications—collectively termed copy number variations (CNVs)—which alter the diploid …
[HTML][HTML] Synaptopathology involved in autism spectrum disorder
Autism spectrum disorder (ASD) encompasses a group of multifactorial neurodevelopmental
disorders characterized by impaired social communication, social interaction and repetitive …
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 …
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 …
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
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 …
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 …
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 …
fortification are recommended to prevent neural tube defects. Mechanisms whereby …
[HTML][HTML] A large data resource of genomic copy number variation across neurodevelopmental disorders
Copy number variations (CNVs) are implicated across many neurodevelopmental disorders
(NDDs) and contribute to their shared genetic etiology. Multiple studies have attempted to …
(NDDs) and contribute to their shared genetic etiology. Multiple studies have attempted to …