Whole-Genome Sequencing of a Single Proband Together with Linkage Analysis Identifies a Mendelian Disease Gene

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

doi:10.1371/journal.pgen.1000991

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https://hdl.handle.net/10161/4473

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10.1371/journal.pgen.1000991

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Sobreira, Nara LM; Cirulli, Elizabeth T; Avramopoulos, Dimitrios; Wohler, Elizabeth; Oswald, Gretchen L; Stevens, Eric L; ... Goldstein, David B (2010). Whole-Genome Sequencing of a Single Proband Together with Linkage Analysis Identifies a Mendelian Disease Gene. PLoS Genetics, 6(6). pp. e1000991. 10.1371/journal.pgen.1000991. Retrieved from https://hdl.handle.net/10161/4473.

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David Benjamin Goldstein

Adjunct Professor in the Department of Molecular Genetics and Microbiology

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