Substitutions for arginine at position 780 in triple helical domain of the α1(I) chain alter folding of the type I procollagen molecule and cause osteogenesis imperfecta.

by Elena Makareeva, Guoli Sun, Lynn S Mirigian, Edward L Mertz, Juan C Vera, Nydea A Espinoza, Kathleen Yang, Diana Chen, Teri E Klein, Peter H Byers, Sergey Leikin
Published 2018-01-01

Standardizing CYP2D6 Genotype to Phenotype Translation: Consensus Recommendations from the Clinical Pharmacogenetics Implementation Consortium and Dutch Pharmacogenetics Working Gr...

by Kelly E. Caudle, Katrin Sangkuhl, Michelle Whirl‐Carrillo, Jesse J. Swen, Cyrine E. Haidar, Teri E. Klein, Roseann S. Gammal, Mary V. Relling, Stuart A. Scott, Daniel L. Hertz, Henk‐Jan Guchelaar, Andrea Gaedigk
Published 2020-01-01

Effect of <em>CYP3A4</em>*22 and <em>PPAR-α</em> Genetic Variants on Platelet Reactivity in Patients Treated with Clopidogrel and Lipid-Lowering Drugs Undergoing Elective Percutane...

by Thomas O. Bergmeijer, Alfi Yasmina, Gerrit J. A. Vos, Paul W. A. Janssen, Christian M. Hackeng, Johannes C. Kelder, Shefali S. Verma, Marylyn D. Ritchie, Li Gong, Teri E. Klein, ICPC investigators, Anthonius de Boer, Olaf H. Klungel, Jurriën M. ten Berg, Vera H. M. Deneer
Published 2020-09-01

Sequence to Medical Phenotypes: A Framework for Interpretation of Human Whole Genome DNA Sequence Data.

by Frederick E Dewey, Megan E Grove, James R Priest, Daryl Waggott, Prag Batra, Clint L Miller, Matthew Wheeler, Amin Zia, Cuiping Pan, Konrad J Karzcewski, Christina Miyake, Michelle Whirl-Carrillo, Teri E Klein, Somalee Datta, Russ B Altman, Michael Snyder, Thomas Quertermous, Euan A Ashley
Published 2015-10-01

The ACCOuNT Consortium: A Model for the Discovery, Translation, and Implementation of Precision Medicine in African Americans

by Paula N. Friedman, Mohammed Shaazuddin, Li Gong, Robert L. Grossman, Arthur F. Harralson, Teri E. Klein, Norman H. Lee, Doriane C. Miller, Edith A. Nutescu, Travis J. O'Brien, Peter H. O'Donnell, Kevin J. O'Leary, Matthew Tuck, David O. Meltzer, Minoli A. Perera
Published 2019-05-01

Phased whole-genome genetic risk in a family quartet using a major allele reference sequence.

by Frederick E Dewey, Rong Chen, Sergio P Cordero, Kelly E Ormond, Colleen Caleshu, Konrad J Karczewski, Michelle Whirl-Carrillo, Matthew T Wheeler, Joel T Dudley, Jake K Byrnes, Omar E Cornejo, Joshua W Knowles, Mark Woon, Katrin Sangkuhl, Li Gong, Caroline F Thorn, Joan M Hebert, Emidio Capriotti, Sean P David, Aleksandra Pavlovic, Anne West, Joseph V Thakuria, Madeleine P Ball, Alexander W Zaranek, Heidi L Rehm, George M Church, John S West, Carlos D Bustamante, Michael Snyder, Russ B Altman, Teri E Klein, Atul J Butte, Euan A Ashley
Published 2011-09-01

Association of the Polygenic Scores for Personality Traits and Response to Selective Serotonin Reuptake Inhibitors in Patients with Major Depressive Disorder

by Azmeraw T. Amare, Klaus Oliver Schubert, Klaus Oliver Schubert, Fasil Tekola-Ayele, Yi-Hsiang Hsu, Yi-Hsiang Hsu, Yi-Hsiang Hsu, Katrin Sangkuhl, Gregory Jenkins, Ryan M. Whaley, Poulami Barman, Anthony Batzler, Russ B. Altman, Volker Arolt, Jürgen Brockmöller, Chia-Hui Chen, Katharina Domschke, Daniel K. Hall-Flavin, Chen-Jee Hong, Chen-Jee Hong, Ari Illi, Yuan Ji, Olli Kampman, Olli Kampman, Toshihiko Kinoshita, Esa Leinonen, Esa Leinonen, Ying-Jay Liou, Ying-Jay Liou, Taisei Mushiroda, Shinpei Nonen, Michelle K. Skime, Liewei Wang, Masaki Kato, Yu-Li Liu, Verayuth Praphanphoj, Julia C. Stingl, William V. Bobo, Shih-Jen Tsai, Shih-Jen Tsai, Michiaki Kubo, Teri E. Klein, Richard M. Weinshilboum, Joanna M. Biernacka, Joanna M. Biernacka, Bernhard T. Baune
Published 2018-03-01