[HTML][HTML] Autism spectrum disorder: definition, epidemiology, causes, and clinical evaluation
H Hodges, C Fealko, N Soares - Translational pediatrics, 2020 - ncbi.nlm.nih.gov
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits
in social communication and the presence of restricted interests and repetitive behaviors …
in social communication and the presence of restricted interests and repetitive behaviors …
[HTML][HTML] Tackling healthcare access barriers for individuals with autism from diagnosis to adulthood
N Malik-Soni, A Shaker, H Luck, AE Mullin… - Pediatric …, 2022 - nature.com
Most individuals with autism spectrum disorder (ASD)—a complex, life-long developmental
disorder—do not have access to the care required to address their diverse health needs …
disorder—do not have access to the care required to address their diverse health needs …
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes
To capture the full spectrum of genetic risk for autism, we performed a two-stage analysis of
rare de novo and inherited coding variants in 42,607 autism cases, including 35,130 new …
rare de novo and inherited coding variants in 42,607 autism cases, including 35,130 new …
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 …
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 - National Acad Sciences
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 …
from both de novo and inherited variation. Few studies have been designed to address the …
Spatial and cell type transcriptional landscape of human cerebellar development
KA Aldinger, Z Thomson, IG Phelps, P Haldipur… - Nature …, 2021 - nature.com
The human neonatal cerebellum is one-fourth of its adult size yet contains the blueprint
required to integrate environmental cues with developing motor, cognitive and emotional …
required to integrate environmental cues with developing motor, cognitive and emotional …
Recent ultra-rare inherited variants implicate new autism candidate risk genes
Autism is a highly heritable complex disorder in which de novo mutation (DNM) variation
contributes significantly to risk. Using whole-genome sequencing data from 3,474 families …
contributes significantly to risk. Using whole-genome sequencing data from 3,474 families …
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
Most genes associated with neurodevelopmental disorders (NDDs) were identified with an
excess of de novo mutations (DNMs) but the significance in case–control mutation burden …
excess of de novo mutations (DNMs) but the significance in case–control mutation burden …
A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex
The genetic etiology of autism spectrum disorder (ASD) is multifactorial, but how
combinations of genetic factors determine risk is unclear. In a large family sample, we show …
combinations of genetic factors determine risk is unclear. In a large family sample, we show …
SUPERGNOVA: local genetic correlation analysis reveals heterogeneous etiologic sharing of complex traits
Local genetic correlation quantifies the genetic similarity of complex traits in specific
genomic regions. However, accurate estimation of local genetic correlation remains …
genomic regions. However, accurate estimation of local genetic correlation remains …