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Publications

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2015
Association of Rare Loss-Of-Function Alleles in HAL, Serum Histidine Levels and Incident Coronary Heart Disease., Yu, Bing, Li Alexander H., Muzny Donna, Veeraraghavan Narayanan, de Vries Paul S., Bis Joshua C., Musani Solomon K., Alexander Danny, Morrison Alanna C., Franco Oscar H., et al. , Circulation. Cardiovascular genetics, 2015 Jan 8, (2015) Abstract
The amyloidogenic V122I transthyretin variant in elderly black Americans., Quarta, Cristina C., Buxbaum Joel N., Shah Amil M., Falk Rodney H., Claggett Brian, Kitzman Dalane W., Mosley Thomas H., Butler Kenneth R., Boerwinkle Eric, and Solomon Scott D. , The New England journal of medicine, 2015 Jan 1, Volume 372, Issue 1, p.21-9, (2015) Abstract
Analysis of loss-of-function variants and 20 risk factor phenotypes in 8,554 individuals identifies loci influencing chronic disease., Li, Alexander H., Morrison Alanna C., Kovar Christie, Cupples Adrienne L., Brody Jennifer A., Polfus Linda M., Yu Bing, Metcalf Ginger, Muzny Donna, Veeraraghavan Narayanan, et al. , Nature genetics, 2015 Apr 27, (2015) Abstract
ABCF1 extrinsically regulates retinal pigment epithelial cell phagocytosis., Guo, Feiye, Ding Ying, Caberoy Nora, Alvarado Gabriela, Wang Feng, Chen Rui, and Li Wei , Molecular biology of the cell, 2015 Apr 22, (2015) Abstract
Adult presentation of X-linked Conradi-Hünermann-Happle syndrome., Posey, Jennifer E., Burrage Lindsay C., Campeau Philippe M., Lu James T., Eble Tanya N., Kratz Lisa, Schlesinger Alan E., Gibbs Richard A., Lee Brendan H., and Nagamani Sandesh C. S. , American journal of medical genetics. Part A, 2015 Apr 2, (2015) Abstract
Assessing structural variation in a personal genome-towards a human reference diploid genome., English, Adam C., Salerno William J., Hampton Oliver A., Gonzaga-Jauregui Claudia, Ambreth Shruthi, Ritter Deborah I., Beck Christine R., Davis Caleb F., Dahdouli Mahmoud, Ma Singer, et al. , BMC genomics, 2015 Apr 11, Volume 16, Issue 1, p.286, (2015) Abstract
2014
Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks., Peloso, Gina M., Auer Paul L., Bis Joshua C., Voorman Arend, Morrison Alanna C., Stitziel Nathan O., Brody Jennifer A., Khetarpal Sumeet A., Crosby Jacy R., Fornage Myriam, et al. , American journal of human genetics, 2014 Feb 6, Volume 94, Issue 2, p.223-32, (2014) Abstract
Advances in translational bioinformatics facilitate revealing the landscape of complex disease mechanisms., Yang, Jack Y., Dunker A., Liu Jun S., Qin Xiang, Arabnia Hamid R., Yang William, Niemierko Andrzej, Chen Zhongxue, Luo Zuojie, Wang Liangjiang, et al. , BMC bioinformatics, 2014, Volume 15 Suppl 17, p.I1, (2014) Abstract
Analysis of prostate-specific antigen transcripts in chimpanzees, cynomolgus monkeys, baboons, and african green monkeys., Mubiru, James N., Yang Alice S., Olsen Christian, Nayak Sudhir, Livi Carolina B., Dick Edward J., Owston Michael, Garcia-Forey Magdalena, Shade Robert E., and Rogers Jeffrey , PloS one, 2014, Volume 9, Issue 4, p.e94522, (2014) Abstract
Association of exome sequences with plasma C-reactive protein levels in >9000 participants, Schick, U. M., Auer P. L., Bis J. C., Lin H., Wei P., Pankratz N., Lange L. A., Brody J., Stitziel N. O., Kim D. S., et al. , Human Molecular Genetics, (2014)
2013
APOE Modulates the Correlation Between Triglycerides, Cholesterol, and CHD Through Pleiotropy and Gene-by-Gene Interactions., Maxwell, Taylor J., Ballantyne Christie M., Cheverud James M., Guild Cameron S., Ndumele Chiadi E., and Boerwinkle Eric , Genetics, 2013 Oct 4, (2013) Abstract
Adverse outcomes in clear cell renal cell carcinoma with mutations of 3p21 epigenetic regulators BAP1 and SETD2: a report by MSKCC and the KIRC TCGA research network., Hakimi, Ari A., Ostrovnaya Irina, Reva Boris, Schultz Nikolaus, Chen Ying-Bei, Gonen Mithat, Liu Han, Takeda Shugaku, Voss Martin H., Tickoo Satish K., et al. , Clinical cancer research : an official journal of the American Association for Cancer Research, 2013 Jun 15, Volume 19, Issue 12, p.3259-67, (2013) Abstract
Assemblathon 2: evaluating de novo methods of genome assembly in three vertebrate species., Bradnam, Keith R., Fass Joseph N., Alexandrov Anton, Baranay Paul, Bechner Michael, Birol Inanç, Boisvert Sébastien, Chapman Jarrod A., Chapuis Guillaume, Chikhi Rayan, et al. , GigaScience, 2013 Jul 22, Volume 2, Issue 1, p.10, (2013) Abstract
Association of genome-wide variation with highly sensitive cardiac troponin-T levels in European Americans and Blacks: a meta-analysis from atherosclerosis risk in communities and cardiovascular health studies., Yu, Bing, Barbalic Maja, Brautbar Ariel, Nambi Vijay, Hoogeveen Ron C., Tang Weihong, Mosley Thomas H., Rotter Jerome I., deFilippi Christopher R., O'Donnell Christopher J., et al. , Circulation. Cardiovascular genetics, 2013 Feb, Volume 6, Issue 1, p.82-8, (2013) Abstract
ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry., Hjeij, Rim, Lindstrand Anna, Francis Richard, Zariwala Maimoona A., Liu Xiaoqin, Li You, Damerla Rama, Dougherty Gerard W., Abouhamed Marouan, Olbrich Heike, et al. , American journal of human genetics, 2013 Aug 8, Volume 93, Issue 2, p.357-67, (2013) Abstract
Associations between metabolomic compounds and incident heart failure among African Americans: the ARIC Study., Zheng, Yan, Yu Bing, Alexander Danny, Manolio Teri A., Aguilar David, Coresh Josef, Heiss Gerardo, Boerwinkle Eric, and Nettleton Jennifer A. , American journal of epidemiology, 2013 Aug 15, Volume 178, Issue 4, p.534-42, (2013) Abstract
Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls., Liu, Li, Sabo Aniko, Neale Benjamin M., Nagaswamy Uma, Stevens Christine, Lim Elaine, Bodea Corneliu A., Muzny Donna, Reid Jeffrey G., Banks Eric, et al. , PLoS genetics, 2013 Apr, Volume 9, Issue 4, p.e1003443, (2013) Abstract
2012
Atypical angiopoietin-like protein that regulates ANGPTL3., Quagliarini, Fabiana, Wang Yan, Kozlitina Julia, Grishin Nick V., Hyde Rhonda, Boerwinkle Eric, Valenzuela David M., Murphy Andrew J., Cohen Jonathan C., and Hobbs Helen H. , Proceedings of the National Academy of Sciences of the United States of America, 2012 Nov 27, Volume 109, Issue 48, p.19751-6, (2012) Abstract
Androgen receptor CAG repeat polymorphism in males of six non-human primate species., Mubiru, James N., Cavazos Nicole, Hemmat Peggah, Garcia-Forey Magdalena, Shade Robert E., and Rogers Jeffrey , Journal of medical primatology, 2012 Feb, Volume 41, Issue 1, p.67-70, (2012) Abstract
Ago HITS-CLIP expands understanding of Kaposi's sarcoma-associated herpesvirus miRNA function in primary effusion lymphomas., Haecker, Irina, Gay Lauren A., Yang Yajie, Hu Jianhong, Morse Alison M., McIntyre Lauren M., and Renne Rolf , PLoS pathogens, 2012, Volume 8, Issue 8, p.e1002884, (2012) Abstract
Analysis of microsatellite variation in Drosophila melanogaster with population-scale genome sequencing., Fondon, John W., Martin Andy, Richards Stephen, Gibbs Richard A., and Mittelman David , PloS one, 2012, Volume 7, Issue 3, p.e33036, (2012) Abstract
Atlas2 Cloud: a framework for personal genome analysis in the cloud., Evani, Uday S., Challis Danny, Yu Jin, Jackson Andrew R., Paithankar Sameer, Bainbridge Matthew N., Jakkamsetti Adinarayana, Pham Peter, Coarfa Cristian, Milosavljevic Aleksandar, et al. , BMC genomics, 2012, Volume 13 Suppl 6, p.S19, (2012) Abstract
2011
Activation of multiple proto-oncogenic tyrosine kinases in breast cancer via loss of the PTPN12 phosphatase., Sun, Tingting, Aceto Nicola, Meerbrey Kristen L., Kessler Jessica D., Zhou Chunshui, Migliaccio Ilenia, Nguyen Don X., Pavlova Natalya N., Botero Maria, Huang Jian, et al. , Cell, 2011 Mar 4, Volume 144, Issue 5, p.703-18, (2011) Abstract
Association between somatostatin receptor 5 gene polymorphisms and pancreatic cancer risk and survival., Li, Donghui, Tanaka Motofumi, Brunicardi Charles F., Fisher William E., Gibbs Richard A., and Gingras Marie-Claude , Cancer, 2011 Jul 1, Volume 117, Issue 13, p.2863-72, (2011) Abstract
Association studies for next-generation sequencing., Luo, Li, Boerwinkle Eric, and Xiong Momiao , Genome research, 2011 Jul, Volume 21, Issue 7, p.1099-108, (2011) Abstract


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