Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities.

doi:10.1016/j.ajhg.2012.10.016

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Article

Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities.

American journal of human genetics - 7 Dec 2012

Talkowski Michael E, Maussion Gilles, Crapper Liam, Rosenfeld Jill A, Blumenthal Ian, Hanscom Carrie, Chiang Colby, Lindgren Amelia, Pereira Shahrin, Ruderfer Douglas, Diallo Alpha B, Lopez Juan Pablo, Turecki Gustavo, Chen Elizabeth S, Gigek Carolina, Harris David J, Lip Va, An Yu, Biagioli Marta, Macdonald Marcy E, Lin Michael, Haggarty Stephen J, Sklar Pamela, Purcell Shaun, Kellis Manolis, Schwartz Stuart, Shaffer Lisa G, Natowicz Marvin R, Shen Yiping, Morton Cynthia C, Gusella James F, Ernst Carl

Abstract excerpt

Large intergenic noncoding (linc) RNAs represent a newly described class of ribonucleic acid whose importance in human disease remains undefined. We identified a severely developmentally delayed 16-year-old female with karyotype 46,XX,t(2;11)(p25.1;p15.1)dn in the absence of clinically significan...

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Identifiers

PMID: 23217328
DOI: 10.1016/j.ajhg.2012.10.016
PMCID: PMC3516594

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23217328-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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