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 …

[HTML][HTML] The impact of paternal age on new mutations and disease in the next generation

KA Wood, A Goriely - Fertility and Sterility, 2022 - Elsevier
Advanced paternal age is associated with an increased risk of fathering children with
genetic disorders and other adverse reproductive consequences. However, the mechanisms …

Synthesis of genetic association studies on autism spectrum disorders using a genetic model-free approach

I Mpoulimari, E Zintzaras - Psychiatric genetics, 2022 - journals.lww.com
Background Autism spectrum disorder (ASD) is a clinically and genetically heterogeneous
group of neurodevelopmental disorders. Despite the extensive efforts of scientists, the …

Clinical autism subscales have common genetic liabilities that are heritable, pleiotropic, and generalizable to the general population

TR Thomas, T Koomar, LG Casten, AJ Tener… - Translational …, 2022 - nature.com
The complexity of autism's phenotypic spectra is well-known, yet most genetic research uses
case-control status as the target trait. It is undetermined if autistic symptom domain severity …

Mid‐childhood autism sibling recurrence in infants with a family history of autism

T Bazelmans, R Arthur, G Pasco, E Shephard… - Autism …, 2024 - Wiley Online Library
Autism sibling recurrence in prospective infant family history studies is~ 20% at 3 years but
systematic follow‐up to mid‐childhood is rare. In population and clinical cohorts autism is …

Heterogeneity of autism symptoms in community‐referred infants and toddlers at elevated or low familial likelihood of autism

TL Cohenour, A Gulsrud, C Kasari - Autism Research, 2023 - Wiley Online Library
Evidence suggests autistic individuals at elevated familial likelihood of autism spectrum
disorder (by virtue of having an autistic sibling) have stronger cognitive abilities on average …

Shared and distinct functional effects of patient-specific Tbr1 mutations on cortical development

RA Barnard, JN Jahncke, S Grindstaff… - Journal of …, 2022 - Soc Neuroscience
T-Box Brain Transcription Factor 1 (TBR1) plays essential roles in brain development,
mediating neuronal migration, fate specification, and axon tract formation. While …

Genomic strategies to untangle the etiology of autism: A primer

S Vashisth, MH Chahrour - Autism Research, 2023 - Wiley Online Library
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits
in communication, diminished social skills, and restrictive and repetitive behaviors and …

Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants

J Einson, D Glinos, E Boerwinkle, P Castaldi… - Genetics, 2023 - academic.oup.com
Exonic variants present some of the strongest links between genotype and phenotype.
However, these variants can have significant inter-individual pathogenicity differences …

Single nucleotide variations encoding missense mutations in G protein‐coupled receptors may contribute to autism

ET van der Westhuizen - British Journal of Pharmacology, 2024 - Wiley Online Library
Autism is a neurodevelopmental condition with a range of symptoms that vary in intensity
and severity from person to person. Genetic sequencing has identified thousands of genes …