Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Comparison of autism domains across thirty rare variant genotypes.

EBioMedicine - 1 Feb 2025

Ali Nabila M H, Chawner Samuel J R A, Kushan-Wells Leila, Bearden Carrie E, Mulle Jennifer Gladys, Pollak Rebecca M, Gur Raquel E, Chung Wendy K, Owen Michael J, van den Bree Marianne B M

Abstract excerpt

BACKGROUND: A number of Neurodevelopmental risk Copy Number Variants (ND-CNVs) and Single Gene Variants (SGVs) are strongly linked to elevated likelihood of autism. However, few studies have examined the impact on autism phenotypes across a wide range of rare variant genotypes. METHODS: This study compared Social Communication Questionnaire (SCQ) scores (total and subdomains: social, communication, repetitive...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent
Share to Autistic Disorder

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Copy Number Variations

Share to Genetic Predisposition to Disease

Share to Genotype

Share to Phenotype

Share to Surveys and Questionnaires

Source

Open in PubMed Open full text

Identifiers

PMID: 39891993
DOI: 10.1016/j.ebiom.2024.105521
PMCID: PMC11835590

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Comparison of autism domains across thirty rare variant genotypes.PMID 39891993Read ↗

A Genetics-First Approach to Dissecting the Heterogeneity of Autism: Phenotypic Comparison of Autism Risk Copy Number VariantsSemantic proximity Read ↗

Association between a high-risk autism locus on 5p14 and social communication spectrum phenotypes in the general population.Semantic proximity Read ↗

Clinical autism subscales have common genetic liabilities that are heritable, pleiotropic, and generalizable to the general populationSemantic proximity Read ↗

Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder.Semantic proximity Read ↗

Clinical autism subscales have common genetic liabilities that are heritable, pleiotropic, and generalizable to the general population.Semantic proximity Read ↗

A Genetics-First Approach to Dissecting the Heterogeneity of Autism: Phenotypic Comparison of Autism Risk Copy Number Variants.Semantic proximity Read ↗

Prevalence and Phenotypic Impact of Rare Likely Pathogenic Variants in Autism Spectrum DisorderSemantic proximity Read ↗

Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general populationSemantic proximity Read ↗

Analysis of common genetic variation and rare CNVs in the Australian Autism Biobank.Semantic proximity Read ↗

Genotype-specific communication profiles in 79,518 individuals with neurodevelopmental disordersSemantic proximity Read ↗

Diversity and Classification of Genetic Variations in Autism Spectrum Disorder.Semantic proximity Read ↗

Gene discoveries in autism are biased towards comorbidity with intellectual disability.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.