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

Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease

by Na Zhu, Carrie L. Welch, Jiayao Wang, Philip M. Allen, Claudia Gonzaga-Jauregui, Lijiang Ma, Alejandra K. King, Usha Krishnan, Erika B. Rosenzweig, D. Dunbar Ivy, Eric D. Austin, Rizwan Hamid, Michael W. Pauciulo, Katie A. Lutz, William C. Nichols, Jeffrey G. Reid, John D. Overton, Aris Baras, Frederick E. Dewey, Yufeng Shen, Wendy K. Chung
Published 2018-07-01

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

Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes

by Viktoria Gusarova, Colm O’Dushlaine, Tanya M. Teslovich, Peter N. Benotti, Tooraj Mirshahi, Omri Gottesman, Cristopher V. Van Hout, Michael F. Murray, Anubha Mahajan, Jonas B. Nielsen, Lars Fritsche, Anders Berg Wulff, Daniel F. Gudbjartsson, Marketa Sjögren, Connor A. Emdin, Robert A. Scott, Wen-Jane Lee, Aeron Small, Lydia C. Kwee, Om Prakash Dwivedi, Rashmi B. Prasad, Shannon Bruse, Alexander E. Lopez, John Penn, Anthony Marcketta, Joseph B. Leader, Christopher D. Still, H. Lester Kirchner, Uyenlinh L. Mirshahi, Amr H. Wardeh, Cassandra M. Hartle, Lukas Habegger, Samantha N. Fetterolf, Teresa Tusie-Luna, Andrew P. Morris, Hilma Holm, Valgerdur Steinthorsdottir, Patrick Sulem, Unnur Thorsteinsdottir, Jerome I. Rotter, Lee-Ming Chuang, Scott Damrauer, David Birtwell, Chad M. Brummett, Amit V. Khera, Pradeep Natarajan, Marju Orho-Melander, Jason Flannick, Luca A. Lotta, Cristen J. Willer, Oddgeir L. Holmen, Marylyn D. Ritchie, David H. Ledbetter, Andrew J. Murphy, Ingrid B. Borecki, Jeffrey G. Reid, John D. Overton, Ola Hansson, Leif Groop, Svati H. Shah, William E. Kraus, Daniel J. Rader, Yii-Der I. Chen, Kristian Hveem, Nicholas J. Wareham, Sekar Kathiresan, Olle Melander, Kari Stefansson, Børge G. Nordestgaard, Anne Tybjærg-Hansen, Goncalo R. Abecasis, David Altshuler, Jose C. Florez, Michael Boehnke, Mark I. McCarthy, George D. Yancopoulos, David J. Carey, Alan R. Shuldiner, Aris Baras, Frederick E. Dewey, Jesper Gromada
Published 2018-06-01