TY  - GEN
AU  - de Ligt,Joep
AU  - Boone,Philip M
AU  - Pfundt,Rolph
AU  - Vissers,Lisenka E L M
AU  - Richmond,Todd
AU  - Geoghegan,Joel
AU  - O'Moore,Kathleen
AU  - de Leeuw,Nicole
AU  - Shaw,Christine
AU  - Brunner,Han G
AU  - Lupski,James R
AU  - Veltman,Joris A
AU  - Hehir-Kwa,Jayne Y
TI  - Detection of clinically relevant copy number variants with whole-exome sequencing
SN  - 1098-1004
PY  - 2014///0721
KW  - Algorithms
KW  - DNA Copy Number Variations
KW  - Exome
KW  - Genetic Testing
KW  - methods
KW  - Genome-Wide Association Study
KW  - High-Throughput Nucleotide Sequencing
KW  - Humans
KW  - Intellectual Disability
KW  - diagnosis
KW  - Reproducibility of Results
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/humu.22387
ER  -