Associated Papers
MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease.
Rowlands CF et al.
American Journal of Human Genetics, 2022
35065709 (PubMed )
Supplement: mmc1.pdf
Causative variant profile of collagen VI-related dystrophy in Japan.
Inoue M et al.
Orphanet Journal of Rare Diseases, 2021
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.
Cummings BB et al.
Science Translational Medicine, 2017
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