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Article

Maternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV.

American journal of human genetics - 7 Jan 2016

Duyzend Michael H, Nuttle Xander, Coe Bradley P, Baker Carl, Nickerson Deborah A, Bernier Raphael, Eichler Evan E

Abstract excerpt

Recurrent deletions and duplications at chromosomal region 16p11.2 are a major genetic contributor to autism but also associate with a wider range of pediatric diagnoses, including intellectual disability, coordination disorder, and language disorder. In order to investigate the potential genetic basis for phenotype variability, we assessed the parent of origin of the 16p11.2 copy-number variant (CNV) and the...

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Share to Autistic Disorder
Share to Chromosomes, Human, Pair 16

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Crossing Over, Genetic

Share to DNA Copy Number Variations

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Share to Polymorphism, Single Nucleotide

Share to Recombination, Genetic

Source

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Identifiers

PMID: 26749307
DOI: 10.1016/j.ajhg.2015.11.017
PMCID: PMC4716684

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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