Associated Papers
Multi-center implementation of rapid whole genome sequencing provides additional evidence of its utility in the pediatric inpatient setting.
Thompson L et al.
Frontiers in Pediatrics, 2024
38440187 (PubMed )
Supplement: Table3.xlsx › Sheet1
Transcriptome-based variant calling and aberrant mRNA discovery enhance diagnostic efficiency for neuromuscular diseases.
Hong SE et al.
Journal of Medical Genetics, 2022
35387801 (PubMed )
Supplement: jmedgenet-2021-108307supp001.xlsx › S2._PathogenicVar_WES_RNAseq
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Genotype-phenotype correlations in recessive RYR1-related myopathies.
Amburgey K et al.
Orphanet Journal of Rare Diseases, 2013
23919265 (PubMed )
Supplement: 1750-1172-8-117-S1.xlsx › All_Literature_Rev_Patients
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.
Zhou H et al.
Brain : a Journal of Neurology, 2007
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