Publications
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[ Author] Title Year Filters: Keyword is Cohort Studies and Author is Gambin, Tomasz [Clear All Filters]
Identification of novel candidate disease genes from de novo exonic copy number variants. Genome Med 9, 83 (2017).
Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort. Nucleic Acids Res 45, 1633-1648 (2017).