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