Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene.

by Nara L M Sobreira, Elizabeth T Cirulli, Dimitrios Avramopoulos, Elizabeth Wohler, Gretchen L Oswald, Eric L Stevens, Dongliang Ge, Kevin V Shianna, Jason P Smith, Jessica M Maia, Curtis E Gumbs, Jonathan Pevsner, George Thomas, David Valle, Julie E Hoover-Fong, David B Goldstein
Published 2010-06-01