Best practices and joint calling of the HumanExome BeadChip: the CHARGE Consortium.

by Megan L Grove, Bing Yu, Barbara J Cochran, Talin Haritunians, Joshua C Bis, Kent D Taylor, Mark Hansen, Ingrid B Borecki, L Adrienne Cupples, Myriam Fornage, Vilmundur Gudnason, Tamara B Harris, Sekar Kathiresan, Robert Kraaij, Lenore J Launer, Daniel Levy, Yongmei Liu, Thomas Mosley, Gina M Peloso, Bruce M Psaty, Stephen S Rich, Fernando Rivadeneira, David S Siscovick, Albert V Smith, Andre Uitterlinden, Cornelia M van Duijn, James G Wilson, Christopher J O'Donnell, Jerome I Rotter, Eric Boerwinkle
Published 2013-01-01

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

by Claudia Gonzaga-Jauregui, Tamar Harel, Tomasz Gambin, Maria Kousi, Laurie B. Griffin, Ludmila Francescatto, Burcak Ozes, Ender Karaca, Shalini N. Jhangiani, Matthew N. Bainbridge, Kim S. Lawson, Davut Pehlivan, Yuji Okamoto, Marjorie Withers, Pedro Mancias, Anne Slavotinek, Pamela J. Reitnauer, Meryem T. Goksungur, Michael Shy, Thomas O. Crawford, Michel Koenig, Jason Willer, Brittany N. Flores, Igor Pediaditrakis, Onder Us, Wojciech Wiszniewski, Yesim Parman, Anthony Antonellis, Donna M. Muzny, Nicholas Katsanis, Esra Battaloglu, Eric Boerwinkle, Richard A. Gibbs, James R. Lupski
Published 2015-08-01

Large-scale whole-exome sequencing association studies identify rare functional variants influencing serum urate levels

by Adrienne Tin, Yong Li, Jennifer A. Brody, Teresa Nutile, Audrey Y. Chu, Jennifer E. Huffman, Qiong Yang, Ming-Huei Chen, Cassianne Robinson-Cohen, Aurélien Macé, Jun Liu, Ayşe Demirkan, Rossella Sorice, Sanaz Sedaghat, Melody Swen, Bing Yu, Sahar Ghasemi, Alexanda Teumer, Peter Vollenweider, Marina Ciullo, Meng Li, André G. Uitterlinden, Robert Kraaij, Najaf Amin, Jeroen van Rooij, Zoltán Kutalik, Abbas Dehghan, Barbara McKnight, Cornelia M. van Duijn, Alanna Morrison, Bruce M. Psaty, Eric Boerwinkle, Caroline S. Fox, Owen M. Woodward, Anna Köttgen
Published 2018-10-01

Genome-wide meta-analysis identifies regions on 7p21 (AHR) and 15q24 (CYP1A2) as determinants of habitual caffeine consumption.

by Marilyn C Cornelis, Keri L Monda, Kai Yu, Nina Paynter, Elizabeth M Azzato, Siiri N Bennett, Sonja I Berndt, Eric Boerwinkle, Stephen Chanock, Nilanjan Chatterjee, David Couper, Gary Curhan, Gerardo Heiss, Frank B Hu, David J Hunter, Kevin Jacobs, Majken K Jensen, Peter Kraft, Maria Teresa Landi, Jennifer A Nettleton, Mark P Purdue, Preetha Rajaraman, Eric B Rimm, Lynda M Rose, Nathaniel Rothman, Debra Silverman, Rachael Stolzenberg-Solomon, Amy Subar, Meredith Yeager, Daniel I Chasman, Rob M van Dam, Neil E Caporaso
Published 2011-04-01

Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls.

by Li Liu, Aniko Sabo, Benjamin M Neale, Uma Nagaswamy, Christine Stevens, Elaine Lim, Corneliu A Bodea, Donna Muzny, Jeffrey G Reid, Eric Banks, Hillary Coon, Mark Depristo, Huyen Dinh, Tim Fennel, Jason Flannick, Stacey Gabriel, Kiran Garimella, Shannon Gross, Alicia Hawes, Lora Lewis, Vladimir Makarov, Jared Maguire, Irene Newsham, Ryan Poplin, Stephan Ripke, Khalid Shakir, Kaitlin E Samocha, Yuanqing Wu, Eric Boerwinkle, Joseph D Buxbaum, Edwin H Cook, Bernie Devlin, Gerard D Schellenberg, James S Sutcliffe, Mark J Daly, Richard A Gibbs, Kathryn Roeder
Published 2013-04-01

Prospective associations of coronary heart disease loci in African Americans using the MetaboChip: the PAGE study.

by Nora Franceschini, Yijuan Hu, Alex P Reiner, Steven Buyske, Mike Nalls, Lisa R Yanek, Yun Li, Lucia A Hindorff, Shelley A Cole, Barbara V Howard, Jeanette M Stafford, Cara L Carty, Praveen Sethupathy, Lisa W Martin, Dan-Yu Lin, Karen C Johnson, Lewis C Becker, Kari E North, Abbas Dehghan, Joshua C Bis, Yongmei Liu, Philip Greenland, JoAnn E Manson, Nobuyo Maeda, Melissa Garcia, Tamara B Harris, Diane M Becker, Christopher O'Donnell, Gerardo Heiss, Charles Kooperberg, Eric Boerwinkle
Published 2014-01-01

Evaluation of the metabochip genotyping array in African Americans and implications for fine mapping of GWAS-identified loci: the PAGE study.

by Steven Buyske, Ying Wu, Cara L Carty, Iona Cheng, Themistocles L Assimes, Logan Dumitrescu, Lucia A Hindorff, Sabrina Mitchell, Jose Luis Ambite, Eric Boerwinkle, Petra Buzkova, Chris S Carlson, Barbara Cochran, David Duggan, Charles B Eaton, Megan D Fesinmeyer, Nora Franceschini, Jeffrey Haessler, Nancy Jenny, Hyun Min Kang, Charles Kooperberg, Yi Lin, Loic Le Marchand, Tara C Matise, Jennifer G Robinson, Carlos Rodriguez, Fredrick R Schumacher, Benjamin F Voight, Alicia Young, Teri A Manolio, Karen L Mohlke, Christopher A Haiman, Ulrike Peters, Dana C Crawford, Kari E North
Published 2012-01-01

MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death

by Mohammad K. Eldomery, Zeynep C. Akdemir, F.-Nora Vögtle, Wu-Lin Charng, Patrycja Mulica, Jill A. Rosenfeld, Tomasz Gambin, Shen Gu, Lindsay C. Burrage, Aisha Al Shamsi, Samantha Penney, Shalini N. Jhangiani, Holly H. Zimmerman, Donna M. Muzny, Xia Wang, Jia Tang, Ravi Medikonda, Prasanna V. Ramachandran, Lee-Jun Wong, Eric Boerwinkle, Richard A. Gibbs, Christine M. Eng, Seema R. Lalani, Jozef Hertecant, Richard J. Rodenburg, Omar A. Abdul-Rahman, Yaping Yang, Fan Xia, Meng C. Wang, James R. Lupski, Chris Meisinger, V. Reid Sutton
Published 2016-11-01

Creating a data resource: what will it take to build a medical information commons?

by Patricia A. Deverka, Mary A. Majumder, Angela G. Villanueva, Margaret Anderson, Annette C. Bakker, Jessica Bardill, Eric Boerwinkle, Tania Bubela, Barbara J. Evans, Nanibaa’ A. Garrison, Richard A. Gibbs, Robert Gentleman, David Glazer, Melissa M. Goldstein, Hank Greely, Crane Harris, Bartha M. Knoppers, Barbara A. Koenig, Isaac S. Kohane, Salvatore La Rosa, John Mattison, Christopher J. O’Donnell, Arti K. Rai, Heidi L. Rehm, Laura L. Rodriguez, Robert Shelton, Tania Simoncelli, Sharon F. Terry, Michael S. Watson, John Wilbanks, Robert Cook-Deegan, Amy L. McGuire
Published 2017-09-01

BinomiRare: A robust test for association of a rare genetic variant with a binary outcome for mixed models and any case-control proportion

by Tamar Sofer, Jiwon Lee, Nuzulul Kurniansyah, Deepti Jain, Cecelia A. Laurie, Stephanie M. Gogarten, Matthew P. Conomos, Ben Heavner, Yao Hu, Charles Kooperberg, Jeffrey Haessler, Ramachandran S. Vasan, L. Adrienne Cupples, Brandon J. Coombes, Amanda Seyerle, Sina A. Gharib, Han Chen, Jeffrey R. O’Connell, Man Zhang, Daniel J. Gottlieb, Bruce M. Psaty, W.T. Longstreth, Jr., Jerome I. Rotter, Kent D. Taylor, Stephen S. Rich, Xiuqing Guo, Eric Boerwinkle, Alanna C. Morrison, James S. Pankow, Andrew D. Johnson, Nathan Pankratz, Alex P. Reiner, Susan Redline, Nicholas L. Smith, Kenneth M. Rice, Elizabeth D. Schifano
Published 2021-07-01

Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels.

by Tamra E Meyer, Germaine C Verwoert, Shih-Jen Hwang, Nicole L Glazer, Albert V Smith, Frank J A van Rooij, Georg B Ehret, Eric Boerwinkle, Janine F Felix, Tennille S Leak, Tamara B Harris, Qiong Yang, Abbas Dehghan, Thor Aspelund, Ronit Katz, Georg Homuth, Thomas Kocher, Rainer Rettig, Janina S Ried, Christian Gieger, Hanna Prucha, Arne Pfeufer, Thomas Meitinger, Josef Coresh, Albert Hofman, Mark J Sarnak, Yii-Der Ida Chen, André G Uitterlinden, Aravinda Chakravarti, Bruce M Psaty, Cornelia M van Duijn, W H Linda Kao, Jacqueline C M Witteman, Vilmundur Gudnason, David S Siscovick, Caroline S Fox, Anna Köttgen, Genetic Factors for Osteoporosis Consortium, Meta Analysis of Glucose and Insulin Related Traits Consortium
Published 2010-08-01

Association of Body Mass Index with DNA Methylation and Gene Expression in Blood Cells and Relations to Cardiometabolic Disease: A Mendelian Randomization Approach.

by Michael M Mendelson, Riccardo E Marioni, Roby Joehanes, Chunyu Liu, Åsa K Hedman, Stella Aslibekyan, Ellen W Demerath, Weihua Guan, Degui Zhi, Chen Yao, Tianxiao Huan, Christine Willinger, Brian Chen, Paul Courchesne, Michael Multhaup, Marguerite R Irvin, Ariella Cohain, Eric E Schadt, Megan L Grove, Jan Bressler, Kari North, Johan Sundström, Stefan Gustafsson, Sonia Shah, Allan F McRae, Sarah E Harris, Jude Gibson, Paul Redmond, Janie Corley, Lee Murphy, John M Starr, Erica Kleinbrink, Leonard Lipovich, Peter M Visscher, Naomi R Wray, Ronald M Krauss, Daniele Fallin, Andrew Feinberg, Devin M Absher, Myriam Fornage, James S Pankow, Lars Lind, Caroline Fox, Erik Ingelsson, Donna K Arnett, Eric Boerwinkle, Liming Liang, Daniel Levy, Ian J Deary
Published 2017-01-01

Pharmacogenomics of statin-related myopathy: Meta-analysis of rare variants from whole-exome sequencing.

by James S Floyd, Katarzyna M Bloch, Jennifer A Brody, Cyrielle Maroteau, Moneeza K Siddiqui, Richard Gregory, Daniel F Carr, Mariam Molokhia, Xiaoming Liu, Joshua C Bis, Ammar Ahmed, Xuan Liu, Pär Hallberg, Qun-Ying Yue, Patrik K E Magnusson, Diane Brisson, Kerri L Wiggins, Alanna C Morrison, Etienne Khoury, Paul McKeigue, Bruno H Stricker, Maryse Lapeyre-Mestre, Susan R Heckbert, Arlene M Gallagher, Hector Chinoy, Richard A Gibbs, Emmanuelle Bondon-Guitton, Russell Tracy, Eric Boerwinkle, Daniel Gaudet, Anita Conforti, Tjeerd van Staa, Colleen M Sitlani, Kenneth M Rice, Anke-Hilse Maitland-van der Zee, Mia Wadelius, Andrew P Morris, Munir Pirmohamed, Colin A N Palmer, Bruce M Psaty, Ana Alfirevic, PREDICTION-ADR Consortium and EUDRAGENE
Published 2019-01-01

Genetic loci associated with prevalent and incident myocardial infarction and coronary heart disease in the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Co...

by Julie Hahn, Yi-Ping Fu, Michael R Brown, Joshua C Bis, Paul S de Vries, Mary F Feitosa, Lisa R Yanek, Stefan Weiss, Franco Giulianini, Albert Vernon Smith, Xiuqing Guo, Traci M Bartz, Diane M Becker, Lewis C Becker, Eric Boerwinkle, Jennifer A Brody, Yii-Der Ida Chen, Oscar H Franco, Megan Grove, Tamara B Harris, Albert Hofman, Shih-Jen Hwang, Brian G Kral, Lenore J Launer, Marcello R P Markus, Kenneth M Rice, Stephen S Rich, Paul M Ridker, Fernando Rivadeneira, Jerome I Rotter, Nona Sotoodehnia, Kent D Taylor, André G Uitterlinden, Uwe Völker, Henry Völzke, Jie Yao, Daniel I Chasman, Marcus Dörr, Vilmundur Gudnason, Rasika A Mathias, Wendy Post, Bruce M Psaty, Abbas Dehghan, Christopher J O'Donnell, Alanna C Morrison
Published 2020-01-01

Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.

by Elizabeth G Holliday, Albert V Smith, Belinda K Cornes, Gabriëlle H S Buitendijk, Richard A Jensen, Xueling Sim, Thor Aspelund, Tin Aung, Paul N Baird, Eric Boerwinkle, Ching Yu Cheng, Cornelia M van Duijn, Gudny Eiriksdottir, Vilmundur Gudnason, Tamara Harris, Alex W Hewitt, Michael Inouye, Fridbert Jonasson, Barbara E K Klein, Lenore Launer, Xiaohui Li, Gerald Liew, Thomas Lumley, Patrick McElduff, Barbara McKnight, Paul Mitchell, Bruce M Psaty, Elena Rochtchina, Jerome I Rotter, Rodney J Scott, Wanting Tay, Kent Taylor, Yik Ying Teo, André G Uitterlinden, Ananth Viswanathan, Sophia Xie, Wellcome Trust Case Control Consortium 2, Johannes R Vingerling, Caroline C W Klaver, E Shyong Tai, David Siscovick, Ronald Klein, Mary Frances Cotch, Tien Y Wong, John Attia, Jie Jin Wang
Published 2013-01-01

Genome-wide association study of retinopathy in individuals without diabetes.

by Richard A Jensen, Xueling Sim, Xiaohui Li, Mary Frances Cotch, M Kamran Ikram, Elizabeth G Holliday, Gudny Eiriksdottir, Tamara B Harris, Fridbert Jonasson, Barbara E K Klein, Lenore J Launer, Albert Vernon Smith, Eric Boerwinkle, Ning Cheung, Alex W Hewitt, Gerald Liew, Paul Mitchell, Jie Jin Wang, John Attia, Rodney Scott, Nicole L Glazer, Thomas Lumley, Barbara McKnight, Bruce M Psaty, Kent Taylor, Albert Hofman, Paulus T V M de Jong, Fernando Rivadeneira, Andre G Uitterlinden, Wan-Ting Tay, Yik Ying Teo, Mark Seielstad, Jianjun Liu, Ching-Yu Cheng, Seang-Mei Saw, Tin Aung, Santhi K Ganesh, Christopher J O'Donnell, Mike A Nalls, Kerri L Wiggins, Jane Z Kuo, Blue Mountains Eye Study GWAS Team, CKDGen Consortium, Cornelia M van Duijn, Vilmundur Gudnason, Ronald Klein, David S Siscovick, Jerome I Rotter, E Shong Tai, Johannes Vingerling, Tien Y Wong
Published 2013-01-01

Discovery of Genetic Variation on Chromosome 5q22 Associated with Mortality in Heart Failure.

by J Gustav Smith, Janine F Felix, Alanna C Morrison, Andreas Kalogeropoulos, Stella Trompet, Jemma B Wilk, Olof Gidlöf, Xinchen Wang, Michael Morley, Michael Mendelson, Roby Joehanes, Symen Ligthart, Xiaoyin Shan, Joshua C Bis, Ying A Wang, Marketa Sjögren, Julius Ngwa, Jeffrey Brandimarto, David J Stott, David Aguilar, Kenneth M Rice, Howard D Sesso, Serkalem Demissie, Brendan M Buckley, Kent D Taylor, Ian Ford, Chen Yao, Chunyu Liu, CHARGE-SCD consortium, EchoGen consortium, QT-IGC consortium, CHARGE-QRS consortium, Nona Sotoodehnia, Pim van der Harst, Bruno H Ch Stricker, Stephen B Kritchevsky, Yongmei Liu, J Michael Gaziano, Albert Hofman, Christine S Moravec, André G Uitterlinden, Manolis Kellis, Joyce B van Meurs, Kenneth B Margulies, Abbas Dehghan, Daniel Levy, Björn Olde, Bruce M Psaty, L Adrienne Cupples, J Wouter Jukema, Luc Djousse, Oscar H Franco, Eric Boerwinkle, Laurie A Boyer, Christopher Newton-Cheh, Javed Butler, Ramachandran S Vasan, Thomas P Cappola, Nicholas L Smith
Published 2016-05-01

Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies.

by Brendan J Keating, Sam Tischfield, Sarah S Murray, Tushar Bhangale, Thomas S Price, Joseph T Glessner, Luana Galver, Jeffrey C Barrett, Struan F A Grant, Deborah N Farlow, Hareesh R Chandrupatla, Mark Hansen, Saad Ajmal, George J Papanicolaou, Yiran Guo, Mingyao Li, Stephanie Derohannessian, Paul I W de Bakker, Swneke D Bailey, Alexandre Montpetit, Andrew C Edmondson, Kent Taylor, Xiaowu Gai, Susanna S Wang, Myriam Fornage, Tamim Shaikh, Leif Groop, Michael Boehnke, Alistair S Hall, Andrew T Hattersley, Edward Frackelton, Nick Patterson, Charleston W K Chiang, Cecelia E Kim, Richard R Fabsitz, Willem Ouwehand, Alkes L Price, Patricia Munroe, Mark Caulfield, Thomas Drake, Eric Boerwinkle, David Reich, A Stephen Whitehead, Thomas P Cappola, Nilesh J Samani, A Jake Lusis, Eric Schadt, James G Wilson, Wolfgang Koenig, Mark I McCarthy, Sekar Kathiresan, Stacey B Gabriel, Hakon Hakonarson, Sonia S Anand, Muredach Reilly, James C Engert, Deborah A Nickerson, Daniel J Rader, Joel N Hirschhorn, Garret A Fitzgerald
Published 2008-01-01

Drug-Gene Interactions of Antihypertensive Medications and Risk of Incident Cardiovascular Disease: A Pharmacogenomics Study from the CHARGE Consortium.

by Joshua C Bis, Colleen Sitlani, Ryan Irvin, Christy L Avery, Albert Vernon Smith, Fangui Sun, Daniel S Evans, Solomon K Musani, Xiaohui Li, Stella Trompet, Bouwe P Krijthe, Tamara B Harris, P Miguel Quibrera, Jennifer A Brody, Serkalem Demissie, Barry R Davis, Kerri L Wiggins, Gregory J Tranah, Leslie A Lange, Nona Sotoodehnia, David J Stott, Oscar H Franco, Lenore J Launer, Til Stürmer, Kent D Taylor, L Adrienne Cupples, John H Eckfeldt, Nicholas L Smith, Yongmei Liu, James G Wilson, Susan R Heckbert, Brendan M Buckley, M Arfan Ikram, Eric Boerwinkle, Yii-Der Ida Chen, Anton J M de Craen, Andre G Uitterlinden, Jerome I Rotter, Ian Ford, Albert Hofman, Naveed Sattar, P Eline Slagboom, Rudi G J Westendorp, Vilmundur Gudnason, Ramachandran S Vasan, Thomas Lumley, Steven R Cummings, Herman A Taylor, Wendy Post, J Wouter Jukema, Bruno H Stricker, Eric A Whitsel, Bruce M Psaty, Donna Arnett
Published 2015-01-01

A multi-ethnic epigenome-wide association study of leukocyte DNA methylation and blood lipids

by Mina-A Jhun, Michael Mendelson, Rory Wilson, Rahul Gondalia, Roby Joehanes, Elias Salfati, Xiaoping Zhao, Kim Valeska Emilie Braun, Anh Nguyet Do, Åsa K. Hedman, Tao Zhang, Elena Carnero-Montoro, Jincheng Shen, Traci M. Bartz, Jennifer A. Brody, May E. Montasser, Jeff R. O’Connell, Chen Yao, Rui Xia, Eric Boerwinkle, Megan Grove, Weihua Guan, Pfeiffer Liliane, Paula Singmann, Martina Müller-Nurasyid, Thomas Meitinger, Christian Gieger, Annette Peters, Wei Zhao, Erin B. Ware, Jennifer A. Smith, Klodian Dhana, Joyce van Meurs, Andre Uitterlinden, Mohammad Arfan Ikram, Mohsen Ghanbari, Deugi Zhi, Stefan Gustafsson, Lars Lind, Shengxu Li, Dianjianyi Sun, Tim D. Spector, Yii-der Ida Chen, Coleen Damcott, Alan R. Shuldiner, Devin M. Absher, Steve Horvath, Philip S. Tsao, Sharon Kardia, Bruce M. Psaty, Nona Sotoodehnia, Jordana T. Bell, Erik Ingelsson, Wei Chen, Abbas Dehghan, Donna K. Arnett, Melanie Waldenberger, Lifang Hou, Eric A. Whitsel, Andrea Baccarelli, Daniel Levy, Myriam Fornage, Marguerite R. Irvin, Themistocles L. Assimes
Published 2021-06-01