Towards accurate and reliable resolution of structural variants for clinical diagnosis
Structural variants (SVs) are a major source of human genetic diversity and have been
associated with different diseases and phenotypes. The detection of SVs is difficult, and a …
associated with different diseases and phenotypes. The detection of SVs is difficult, and a …
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 …
Clinical and translational implications of an emerging developmental substructure for autism
A vast share of the population-attributable risk for autism relates to inherited polygenic risk. A
growing number of studies in the past five years have indicated that inherited susceptibility …
growing number of studies in the past five years have indicated that inherited susceptibility …
Gene copy number variation and pediatric mental health/neurodevelopment in a general population
We assessed the relationship of gene copy number variation (CNV) in mental health/
neurodevelopmental traits and diagnoses, physical health and cognition in a community …
neurodevelopmental traits and diagnoses, physical health and cognition in a community …
Chromosome X-wide common variant association study in autism spectrum disorder
Autism spectrum disorder (ASD) displays a notable male bias in prevalence. Research into
rare (< 0.1) genetic variants on the X chromosome has implicated over 20 genes in ASD …
rare (< 0.1) genetic variants on the X chromosome has implicated over 20 genes in ASD …
A genetics-first approach to dissecting the heterogeneity of autism: phenotypic comparison of autism risk copy number variants
SJRA Chawner, JL Doherty… - American Journal of …, 2021 - Am Psychiatric Assoc
Objective: Certain copy number variants (CNVs) greatly increase the risk of autism. The
authors conducted a genetics-first study to investigate whether heterogeneity in the clinical …
authors conducted a genetics-first study to investigate whether heterogeneity in the clinical …
Urinary untargeted metabolic profile differentiates children with autism from their unaffected siblings
Autism Spectrum Disorder (ASD) encompasses a clinical spectrum of neurodevelopmental
conditions that display significant heterogeneity in etiology, symptomatology, and severity …
conditions that display significant heterogeneity in etiology, symptomatology, and severity …
What a finding of gene copy number variation can add to the diagnosis of developmental neuropsychiatric disorders
Among medical disciplines, diagnosis in psychiatry depends highly upon descriptive signs
and symptoms, rather than biomarkers. Clear descriptions of specific genetic etiologies have …
and symptoms, rather than biomarkers. Clear descriptions of specific genetic etiologies have …
Mutations in trpγ, the homologue of TRPC6 autism candidate gene, causes autism-like behavioral deficits in Drosophila
A Palacios-Muñoz, D de Paula Moreira, V Silva… - Molecular …, 2022 - nature.com
Abstract Autism Spectrum Disorder (ASD) is characterized by impaired social
communication, restricted interests, and repetitive and stereotyped behaviors. The TRPC6 …
communication, restricted interests, and repetitive and stereotyped behaviors. The TRPC6 …
Association between spectral electroencephalography power and autism risk and diagnosis in early development
Autism spectrum disorder (ASD) has its origins in the atypical development of brain
networks. Infants who are at high familial risk for, and later diagnosed with ASD, show …
networks. Infants who are at high familial risk for, and later diagnosed with ASD, show …