Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy
Marshall W. Hogarth(The University of Sydney), Kathryn N. North(Children's Hospital at Westmead)
Cited by 65
Related Papers
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
|Science Translational Medicine|2017|805
Integrating Genomics into Healthcare: A Global Responsibility
|The American Journal of Human Genetics|2019|390
Ferlins: Regulators of Vesicle Fusion for Auditory Neurotransmission, Receptor Trafficking and Membrane Repair
|Traffic|2011|178
Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores
|The American Journal of Human Genetics|2010|159
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
|bioRxiv (Cold Spring Harbor Laboratory)|2016|150