A Next-Generation Sequencing Primer—How Does It Work and What Can It Do?

por Alekseyev, Yuriy O., Fazeli, Roghayeh, Yang, Shi, Basran, Raveen, Maher, Thomas, Miller, Nancy S., Remick, Daniel
Publicado 2018

RNAseq analysis for the diagnosis of muscular dystrophy

por Gonorazky, Hernan, Liang, Minggao, Cummings, Beryl, Lek, Monkol, Micallef, Johann, Hawkins, Cynthia, Basran, Raveen, Cohn, Ronald, Wilson, Michael D., MacArthur, Daniel, Marshall, Christian R., Ray, Peter N., Dowling, James J.
Publicado 2015

Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study

por Cohn, Iris, Paton, Tara A., Marshall, Christian R., Basran, Raveen, Stavropoulos, Dimitri J., Ray, Peter N., Monfared, Nasim, Hayeems, Robin Z., Meyn, M. Stephen, Bowdin, Sarah, Scherer, Stephen W., Cohn, Ronald D., Ito, Shinya
Publicado 2017

CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions

por Butcher, Darci T., Cytrynbaum, Cheryl, Turinsky, Andrei L., Siu, Michelle T., Inbar-Feigenberg, Michal, Mendoza-Londono, Roberto, Chitayat, David, Walker, Susan, Machado, Jerry, Caluseriu, Oana, Dupuis, Lucie, Grafodatskaya, Daria, Reardon, William, Gilbert-Dussardier, Brigitte, Verloes, Alain, Bilan, Frederic, Milunsky, Jeff M., Basran, Raveen, Papsin, Blake, Stockley, Tracy L., Scherer, Stephen W., Choufani, Sanaa, Brudno, Michael, Weksberg, Rosanna
Publicado 2017

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

por Lionel, Anath C, Costain, Gregory, Monfared, Nasim, Walker, Susan, Reuter, Miriam S, Hosseini, S Mohsen, Thiruvahindrapuram, Bhooma, Merico, Daniele, Jobling, Rebekah, Nalpathamkalam, Thomas, Pellecchia, Giovanna, Sung, Wilson W L, Wang, Zhuozhi, Bikangaga, Peter, Boelman, Cyrus, Carter, Melissa T, Cordeiro, Dawn, Cytrynbaum, Cheryl, Dell, Sharon D, Dhir, Priya, Dowling, James J, Heon, Elise, Hewson, Stacy, Hiraki, Linda, Inbar-Feigenberg, Michal, Klatt, Regan, Kronick, Jonathan, Laxer, Ronald M, Licht, Christoph, MacDonald, Heather, Mercimek-Andrews, Saadet, Mendoza-Londono, Roberto, Piscione, Tino, Schneider, Rayfel, Schulze, Andreas, Silverman, Earl, Siriwardena, Komudi, Snead, O Carter, Sondheimer, Neal, Sutherland, Joanne, Vincent, Ajoy, Wasserman, Jonathan D, Weksberg, Rosanna, Shuman, Cheryl, Carew, Chris, Szego, Michael J, Hayeems, Robin Z, Basran, Raveen, Stavropoulos, Dimitri J, Ray, Peter N, Bowdin, Sarah, Meyn, M Stephen, Cohn, Ronald D, Scherer, Stephen W, Marshall, Christian R
Publicado 2018