Publications
Export 2 results:
Author Title [ Year
] Filters: Author is Boone, Philip M and Keyword is Genetic Diseases, Inborn [Clear All Filters]
Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort. Nucleic Acids Res 45, 1633-1648 (2017).
Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles. Genome Res 23, 1383-94 (2013).
