Publications
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Author Title [ Year] Filters: Keyword is Inheritance Patterns and Author is Boone, Philip M [Clear All Filters]
Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort. Nucleic Acids Res 45, 1633-1648 (2017).
Incidental copy-number variants identified by routine genome testing in a clinical population. Genet Med 15, 45-54 (2013).