Genome and <scp>RNA</scp> sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone
Rhett G. Marchant(The University of Sydney), Sandra T. Cooper(The University of Sydney)
Cited by 21
Related Papers
Ferlins Show Tissue‐Specific Expression and Segregate as Plasma Membrane/Late Endosomal or Trans‐Golgi/Recycling Ferlins
|Traffic|2015|77
WGS and RNA Studies Diagnose Noncoding <i>DMD</i> Variants in Males With High Creatine Kinase
|Neurology Genetics|2021|31
Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin
|European Journal of Human Genetics|2019|25