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Article

Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.

Cell - 27 Apr 2012

Talkowski Michael E, Rosenfeld Jill A, Blumenthal Ian, Pillalamarri Vamsee, Chiang Colby, Heilbut Adrian, Ernst Carl, Hanscom Carrie, Rossin Elizabeth, Lindgren Amelia M, Pereira Shahrin, Ruderfer Douglas, Kirby Andrew, Ripke Stephan, Harris David J, Lee Ji-Hyun, Ha Kyungsoo, Kim Hyung-Goo, Solomon Benjamin D, Gropman Andrea L, Lucente Diane, Sims Katherine, Ohsumi Toshiro K, Borowsky Mark L, Loranger Stephanie, Quade Bradley, Lage Kasper, Miles Judith, Wu Bai-Lin, Shen Yiping, Neale Benjamin, Shaffer Lisa G, Daly Mark J, Morton Cynthia C, Gusella James F

Abstract excerpt

Balanced chromosomal abnormalities (BCAs) represent a relatively untapped reservoir of single-gene disruptions in neurodevelopmental disorders (NDDs). We sequenced BCAs in patients with autism or related NDDs, revealing disruption of 33 loci in four general categories: (1) genes previously associated with abnormal neurodevelopment (e.g., AUTS2, FOXP1, and CDKL5), (2) single-gene contributors to microdeletion...

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Source

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Identifiers

PMID: 22521361
DOI: 10.1016/j.cell.2012.03.028
PMCID: PMC3340505

Genes

ANK3
AUTS2
CDKL5
CHD8
EHMT1
FOXP1
KIRREL3
MBD5
SATB2
SNRPN
TCF4

Provenance

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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