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Article

Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders.

American journal of human genetics - 2 Oct 2014

Brand Harrison, Pillalamarri Vamsee, Collins Ryan L, Eggert Stacey, O'Dushlaine Colm, Braaten Ellen B, Stone Matthew R, Chambert Kimberly, Doty Nathan D, Hanscom Carrie, Rosenfeld Jill A, Ditmars Hillary, Blais Jessica, Mills Ryan, Lee Charles, Gusella James F, McCarroll Steven, Smoller Jordan W, Talkowski Michael E, Doyle Alysa E

Abstract excerpt

Structural variation (SV) is a significant component of the genetic etiology of both neurodevelopmental and psychiatric disorders; however, routine guidelines for clinical genetic screening have been established only in the former category. Genome-wide chromosomal microarray (CMA) can detect genomic imbalances such as copy-number variants (CNVs), but balanced chromosomal abnormalities (BCAs) still require...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 25279985
DOI: 10.1016/j.ajhg.2014.09.005
PMCID: PMC4185111

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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