Publications

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Author Title [ Year(Desc)]
Filters: Author is Cummings, Beryl B and Keyword is Mutation  [Clear All Filters]
2017
Cummings, B. B. et al. Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Sci Transl Med 9, (2017).
2020
Wang, Q. et al. Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes. Nat Commun 11, 2539 (2020).