Association between gut microbiota and autism spectrum disorder: a systematic review and meta-analysis
M Xu, X Xu, J Li, F Li - Frontiers in psychiatry, 2019 - frontiersin.org
Autism spectrum disorder (ASD) is characterized by stereotyped behavior and deficits in
communication and social interactions. Gastrointestinal (GI) dysfunction is an ASD …
communication and social interactions. Gastrointestinal (GI) dysfunction is an ASD …
[PDF][PDF] Getting to the cores of autism
The genetic architecture of autism spectrum disorder (ASD) is itself a diverse allelic
spectrum that consists of rare de novo or inherited variants in hundreds of genes and …
spectrum that consists of rare de novo or inherited variants in hundreds of genes and …
Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes
Genetic variants that inactivate protein-coding genes are a powerful source of information
about the phenotypic consequences of gene disruption: genes critical for an organism's …
about the phenotypic consequences of gene disruption: genes critical for an organism's …
[PDF][PDF] Predicting splicing from primary sequence with deep learning
The splicing of pre-mRNAs into mature transcripts is remarkable for its precision, but the
mechanisms by which the cellular machinery achieves such specificity are incompletely …
mechanisms by which the cellular machinery achieves such specificity are incompletely …
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 …
Predicting polygenic risk of psychiatric disorders
Genetics provides two major opportunities for understanding human disease—as a
transformative line of etiological inquiry and as a biomarker for heritable diseases. In …
transformative line of etiological inquiry and as a biomarker for heritable diseases. In …
[PDF][PDF] Extreme polygenicity of complex traits is explained by negative selection
Complex traits and common diseases are extremely polygenic, their heritability spread
across thousands of loci. One possible explanation is that thousands of genes and loci have …
across thousands of loci. One possible explanation is that thousands of genes and loci have …
[PDF][PDF] Genetic control of expression and splicing in developing human brain informs disease mechanisms
Tissue-specific regulatory regions harbor substantial genetic risk for disease. Because brain
development is a critical epoch for neuropsychiatric disease susceptibility, we characterized …
development is a critical epoch for neuropsychiatric disease susceptibility, we characterized …
Insights into genetics, human biology and disease gleaned from family based genomic studies
Identifying genes and variants contributing to rare disease phenotypes and Mendelian
conditions informs biology and medicine, yet potential phenotypic consequences for …
conditions informs biology and medicine, yet potential phenotypic consequences for …
Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants
The exome sequences of approximately 8,000 children with autism spectrum disorder (ASD)
and/or attention deficit hyperactivity disorder (ADHD) and 5,000 controls were analyzed …
and/or attention deficit hyperactivity disorder (ADHD) and 5,000 controls were analyzed …