TY  - GEN
AU  - Merker,Jason D
AU  - Wenger,Aaron M
AU  - Sneddon,Tam
AU  - Grove,Megan
AU  - Zappala,Zachary
AU  - Fresard,Laure
AU  - Waggott,Daryl
AU  - Utiramerur,Sowmi
AU  - Hou,Yanli
AU  - Smith,Kevin S
AU  - Montgomery,Stephen B
AU  - Wheeler,Matthew
AU  - Buchan,Jillian G
AU  - Lambert,Christine C
AU  - Eng,Kevin S
AU  - Hickey,Luke
AU  - Korlach,Jonas
AU  - Ford,James
AU  - Ashley,Euan A
TI  - Long-read genome sequencing identifies causal structural variation in a Mendelian disease
SN  - 1530-0366
PY  - 2018///1002
KW  - Child
KW  - Cyclic AMP-Dependent Protein Kinase RIalpha Subunit
KW  - genetics
KW  - Echocardiography
KW  - Genetic Association Studies
KW  - Genetic Diseases, Inborn
KW  - diagnosis
KW  - Genetic Predisposition to Disease
KW  - Genetic Variation
KW  - Genome, Human
KW  - Genomics
KW  - methods
KW  - Humans
KW  - Male
KW  - Phenotype
KW  - Sequence Analysis, DNA
KW  - Sequence Deletion
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1038/gim.2017.86
ER  -