Ferlins: Regulators of Vesicle Fusion for Auditory Neurotransmission, Receptor Trafficking and Membrane Repair
Angela Lek(Muscular Dystrophy Association), Sandra T. Cooper(The University of Sydney), Frances J. Evesson(Harvard University), R. Bryan Sutton(Texas Tech University), Kathryn N. North(The University of Sydney)
Cited by 178
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
Death after High-Dose rAAV9 Gene Therapy in a Patient with Duchenne’s Muscular Dystrophy
|New England Journal of Medicine|2023|302
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
|Nature Genetics|2017|162
Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores
|The American Journal of Human Genetics|2010|159