Genomic diagnosis for children with intellectual disability and/or developmental delay

Genomic diagnosis for children with intellectual disability and/or developmental delay

Abstract Background Developmental disabilities have diverse genetic causes that must be identified to facilitate precise diagnoses. We describe genomic data from 371 affected individuals, 309 of which were sequenced as proband-parent trios. Methods Whole-exome sequences (WES) were generated for 365...

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Bibliographic Details
Main Authors: Kevin M. Bowling, Michelle L. Thompson, Michelle D. Amaral, Candice R. Finnila, Susan M. Hiatt, Krysta L. Engel, J. Nicholas Cochran, Kyle B. Brothers, Kelly M. East, David E. Gray, Whitley V. Kelley, Neil E. Lamb, Edward J. Lose, Carla A. Rich, Shirley Simmons, Jana S. Whittle, Benjamin T. Weaver, Amy S. Nesmith, Richard M. Myers, Gregory S. Barsh, E. Martina Bebin, Gregory M. Cooper
Format: Article
Language:English
Published: BMC 2017-05-01
Series:Genome Medicine
Subjects:
Developmental delay
Intellectual disability
De novo
Clinical sequencing
CSER
Online Access:http://link.springer.com/article/10.1186/s13073-017-0433-1

Internet

http://link.springer.com/article/10.1186/s13073-017-0433-1

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