Segregating patterns of copy number variations in extended autism spectrum disorder (ASD) pedigrees.

doi:10.1002/ajmg.b.32785

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Article

Segregating patterns of copy number variations in extended autism spectrum disorder (ASD) pedigrees.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 1 Jul 2020

Woodbury-Smith Marc, Zarrei Mehdi, Wei John, Thiruvahindrapuram Bhooma, O'Connor Irene, Paterson Andrew D, Yuen Ryan K C, Dastan Jila, Stavropoulos Dimitri J, Howe Jennifer L, Thompson Ann, Parlier Morgan, Fernandez Bridget, Piven Joseph, Anagnostou Evdokia, Scherer Stephen W, Vieland Veronica J, Szatmari Peter

Abstract excerpt

Autism spectrum disorder (ASD) is a relatively common childhood onset neurodevelopmental disorder with a complex genetic etiology. While progress has been made in identifying the de novo mutational landscape of ASD, the genetic factors that underpin the ASD's tendency to run in families are not well understood. In this study, nine extended pedigrees each with three or more individuals with ASD, and others with a...

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PMID: 32372567
DOI: 10.1002/ajmg.b.32785

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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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