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

Motor difficulties in 16p11.2 copy number variation.

Autism research : official journal of the International Society for Autism Research - 1 May 2024

Jutla Amandeep, Harvey Loraine, Veenstra-VanderWeele Jeremy, Chung Wendy K

Abstract excerpt

The rare genetic variants 16p11.2 duplication and 16p11.2 deletion have opposing effects on brain structure and function, yet are associated with broadly similar clinical phenotypes that include autism, intellectual impairment, psychiatric illness, and motor difficulties. In recent years, studies have identified subtle distinctions between the phenotypic effects of 16p11.2 duplication and 16p11.2 deletion with...

Read the complete abstract on PubMed

Topics

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

Share to Autism Spectrum Disorder
Share to Autistic Disorder

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosome Deletion

Share to Chromosome Disorders

Share to Chromosome Duplication

Share to Chromosomes, Human, Pair 16

Share to DNA Copy Number Variations

Share to Intellectual Disability

Source

Open in PubMed Open full text

Identifiers

PMID: 38660979
DOI: 10.1002/aur.3132
PMCID: PMC13138689

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Motor difficulties in 16p11.2 copy number variation.PMID 38660979Read ↗

16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort.Semantic proximity Read ↗

Understanding the clinical manifestations of 16p11.2 deletion syndrome: a series of developmental case reports in children.Semantic proximity Read ↗

The cognitive and behavioral phenotype of the 16p11.2 deletion in a clinically ascertained population.Semantic proximity Read ↗

Developmental trajectories for young children with 16p11.2 copy number variation.Semantic proximity Read ↗

Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical ComorbiditiesSemantic proximity Read ↗

Neurocognitive Profiles of 22q11.2 and 16p11.2 Deletions and DuplicationsSemantic proximity Read ↗

Deep phenotyping of speech and language skills in individuals with 16p11.2 deletion.Semantic proximity Read ↗

Cognitive and behavioral characterization of 16p11.2 deletion syndrome.Semantic proximity Read ↗

A highly penetrant form of childhood apraxia of speech due to deletion of 16p11.2.Semantic proximity Read ↗

Phenotypic shift in copy number variants: Evidence in 16p11.2 duplication syndrome.Semantic proximity Read ↗

Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication.Semantic proximity Read ↗

Phenotypic manifestations of copy number variation in chromosome 16p13.11.Semantic proximity Read ↗

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