Article
Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.
Genome medicine - 1 Nov 2016
Loviglio Maria Nicla, Beck Christine R, White Janson J, Leleu Marion, Harel Tamar, Guex Nicolas, Niknejad Anne, Bi Weimin, Chen Edward S, Crespo Isaac, Yan Jiong, Charng Wu-Lin, Gu Shen, Fang Ping, Coban-Akdemir Zeynep, Shaw Chad A, Jhangiani Shalini N, Muzny Donna M, Gibbs Richard A, Rougemont Jacques, Xenarios Ioannis, Lupski James R, Reymond Alexandre
Abstract excerpt
BACKGROUND: Smith-Magenis syndrome (SMS) is a developmental disability/multiple congenital anomaly disorder resulting from haploinsufficiency of RAI1. It is characterized by distinctive facial features, brachydactyly, sleep disturbances, and stereotypic behaviors. METHODS: We investigated a cohort of 15 individuals with a clinical suspicion of SMS who showed neither deletion in the SMS critical region nor...
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