Associated Papers
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Ek M et al.
Frontiers in Neurology, 2023
37273706 (PubMed )
Supplement: Table_2.xlsx › Blad1
Clinical and molecular findings in a cohort of ANO5-related myopathy.
Silva AMS et al.
Annals of Clinical and Translational Neurology, 2019
Phenotype-driven gene prioritization for rare diseases using graph convolution on heterogeneous networks.
Rao A et al.
Bmc Medical Genomics, 2018
29980210 (PubMed )
Supplement: 12920_2018_372_MOESM1_ESM.pdf
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.
Reddy HM et al.
Journal of Human Genetics, 2017
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