Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics

Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics

Abstract 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 c...

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Bibliographic Details
Main Authors: Maria Nicla Loviglio, Christine R. Beck, Janson J. White, Marion Leleu, Tamar Harel, Nicolas Guex, Anne Niknejad, Weimin Bi, Edward S. Chen, Isaac Crespo, Jiong Yan, Wu-Lin Charng, Shen Gu, Ping Fang, Zeynep Coban-Akdemir, Chad A. Shaw, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibbs, Jacques Rougemont, Ioannis Xenarios, James R. Lupski, Alexandre Reymond
Format: Article
Language:English
Published: BMC 2016-11-01
Series:Genome Medicine
Subjects:
Diagnostic
Intellectual disability
Chromatin conformation
Text mining
Disease network
Online Access:http://link.springer.com/article/10.1186/s13073-016-0359-z

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