Big data approaches to decomposing heterogeneity across the autism spectrum
Autism is a diagnostic label based on behavior. While the diagnostic criteria attempt to
maximize clinical consensus, it also masks a wide degree of heterogeneity between and …
maximize clinical consensus, it also masks a wide degree of heterogeneity between and …
DYRK1A and cognition: A lifelong relationship
ML Arbones, A Thomazeau… - Pharmacology & …, 2019 - Elsevier
The dosage of the serine threonine kinase DYRK1A is critical in the central nervous system
(CNS) during development and aging. This review analyzes the functions of this kinase by …
(CNS) during development and aging. This review analyzes the functions of this kinase by …
Lost in translation: traversing the complex path from genomics to therapeutics in autism spectrum disorder
N Sestan - Neuron, 2018 - cell.com
Recent progress in the genomics of non-syndromic autism spectrum disorder (nsASD)
highlights rare, large-effect, germline, heterozygous de novo coding mutations. This …
highlights rare, large-effect, germline, heterozygous de novo coding mutations. This …
A multiplex human pluripotent stem cell platform defines molecular and functional subclasses of autism-related genes
GY Cederquist, J Tchieu, SJ Callahan, K Ramnarine… - Cell stem cell, 2020 - cell.com
Autism is a clinically heterogeneous neurodevelopmental disorder characterized by
impaired social interactions, restricted interests, and repetitive behaviors. Despite significant …
impaired social interactions, restricted interests, and repetitive behaviors. Despite significant …
Using zebrafish to model autism spectrum disorder: a comparison of ASD risk genes between zebrafish and their mammalian counterparts
V Rea, TJ Van Raay - Frontiers in molecular neuroscience, 2020 - frontiersin.org
Autism spectrum disorders (ASDs) are a highly variable and complex set of neurological
disorders that alter neurodevelopment and cognitive function, which usually presents with …
disorders that alter neurodevelopment and cognitive function, which usually presents with …
The state of research on the genetics of autism spectrum disorder: methodological, clinical and conceptual progress
AB Arnett, S Trinh, RA Bernier - Current opinion in psychology, 2019 - Elsevier
Highlights•Heterogeneity in autism spectrum disorder presents a challenge to clinical care
and research.•Genetic sequencing indicates disruptive gene variants and CNVs account for …
and research.•Genetic sequencing indicates disruptive gene variants and CNVs account for …
Characterizing sensory phenotypes of subgroups with a known genetic etiology pertaining to diagnoses of autism spectrum disorder and intellectual disability
CM Hudac, NR Friedman, VR Ward… - Journal of Autism and …, 2023 - Springer
We aimed to identify unique constellations of sensory phenotypes for genetic etiologies
associated with diagnoses of autism spectrum disorder (ASD) and intellectual disability (ID) …
associated with diagnoses of autism spectrum disorder (ASD) and intellectual disability (ID) …
Characterizing the autism spectrum phenotype in DYRK1A‐related syndrome
EC Kurtz‐Nelson, HM Rea, AC Petriceks… - Autism …, 2023 - Wiley Online Library
Likely gene‐disrupting (LGD) variants in DYRK1A are causative of DYRK1A syndrome and
associated with autism spectrum disorder (ASD) and intellectual disability (ID). While many …
associated with autism spectrum disorder (ASD) and intellectual disability (ID). While many …
The neurodevelopmental disorder risk gene DYRK1A is required for ciliogenesis and control of brain size in Xenopus embryos
ABSTRACT DYRK1A [dual specificity tyrosine-(Y)-phosphorylation-regulated kinase 1 A] is
a high-confidence autism risk gene that encodes a conserved kinase. In addition to autism …
a high-confidence autism risk gene that encodes a conserved kinase. In addition to autism …
Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism
Background Previous research in autism and other neurodevelopmental disorders (NDDs)
has indicated an important contribution of protein-coding (coding) de novo variants (DNVs) …
has indicated an important contribution of protein-coding (coding) de novo variants (DNVs) …