Whole-Genome Sequencing of a Single Proband Together with Linkage Analysis Identifies a Mendelian Disease Gene
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Published Version (Please cite this version)10.1371/journal.pgen.1000991
Publication InfoSobreira, 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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Adjunct Assistant Prof in the Department of Molecular Genetics and Microbiology
Liz is interested in the genetics underlying normal variation in healthy humans, with a focus on traits relevant to disease and involving neuronal function, for example cognitive performance, face recognition, and time perception. She is also interested in applying genome sequencing for disease gene discovery and in studying people with extreme traits, such as those living to at least 100 years of age.
Adjunct Professor in the Department of Molecular Genetics and Microbiology
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