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Journal Article
The 1000 Genomes Project: data management and community access., Clarke, Laura, Zheng-Bradley Xiangqun, Smith Richard, Kulesha Eugene, Xiao Chunlin, Toneva Iliana, Vaughan Brendan, Preuss Don, Leinonen Rasko, Shumway Martin, et al. , Nature methods, 2012 May, Volume 9, Issue 5, p.459-62, (2012) Abstract
The 8q24 cancer risk variant rs6983267 shows long-range interaction with MYC in colorectal cancer., Pomerantz, Mark M., Ahmadiyeh Nasim, Jia Li, Herman Paula, Verzi Michael P., Doddapaneni Harshavardhan, Beckwith Christine A., Chan Jennifer A., Hills Adam, Davis Matt, et al. , Nature genetics, 2009 Aug, Volume 41, Issue 8, p.882-4, (2009) 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
Aggressive tumor growth and clinical evolution in a patient with X-linked acro-gigantism syndrome., Naves, Luciana A., Daly Adrian F., Dias Luiz Augusto, Yuan Bo, Zakir Juliano Coelho Oliveira, Barra Gustavo Barcellos, Palmeira Leonor, Villa Chiara, Trivellin Giampaolo, Júnior Armindo Jreige, et al. , Endocrine, 2015 Nov 25, (2015) Abstract
Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2., Zazo Seco, Celia, Serrão de Castro Luciana, van Nierop Josephine W., Morín Matías, Jhangiani Shalini, Verver Eva J. J., Schraders Margit, Maiwald Nadine, Wesdorp Mieke, Venselaar Hanka, et al. , American journal of human genetics, 2015 Nov 5, Volume 97, Issue 5, p.647-60, (2015) Abstract
Altered neuronal network and rescue in a human MECP2 duplication model., Nageshappa, S., Carromeu C., Trujillo C. A., Mesci P., Espuny-Camacho I., Pasciuto E., Vanderhaeghen P., Verfaillie C. M., Raitano S., Kumar A., et al. , Molecular psychiatry, 2015 Sep 8, (2015) Abstract
Alu-primed polymerase chain reaction for regional assignment of 110 yeast artificial chromosome clones from the human X chromosome: identification of clones associated with a disease locus., Nelson, D. L., Ballabio A., Victoria M. F., Pieretti M., Bies R. D., Gibbs R. A., Maley J. A., Chinault A. C., Webster T. D., and Caskey C. T. , Proceedings of the National Academy of Sciences of the United States of America, 1991 Jul 15, Volume 88, Issue 14, p.6157-61, (1991) Abstract
AluY insertion (IVS4-52ins316alu) in the glycerol kinase gene from an individual with benign glycerol kinase deficiency., Zhang, Y., Dipple K. M., Vilain E., Huang B. L., Finlayson G., Therrell B. L., Worley K., Deininger P., and McCabe E. R. , Human mutation, 2000, Volume 15, Issue 4, p.316-23, (2000) Abstract
Ampullary Cancers Harbor the Tumor Suppressor Gene ELF3 and Exhibit Frequent WNT Dysregulation., Gingras, Marie-Claude, Covington Kyle R., Chang David K., Donehower Lawrence A., Gill Anthony J., Ittmann Michael M., Creighton Chad J., Johns Amber L., Shinbrot Eve, Dewal Ninad, et al. , Cell reports, 2016 Jan 19, (2016) 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
Apolipoprotein E polymorphisms predict low density lipoprotein cholesterol levels and carotid artery wall thickness but not incident coronary heart disease in 12,491 ARIC study participants., Volcik, Kelly A., Barkley Ruth Ann, Hutchinson Richard G., Mosley Thomas H., Heiss Gerardo, Sharrett Richey A., Ballantyne Christie M., and Boerwinkle Eric , American journal of epidemiology, 2006 Aug 15, Volume 164, Issue 4, p.342-8, (2006) 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
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
Association between serum insulin growth factor-I (IGF-I) and a simple sequence repeat in IGF-I gene: implications for genetic studies of bone mineral density., Rosen, C. J., Kurland E. S., Vereault D., Adler R. A., Rackoff P. J., Craig W. Y., Witte S., Rogers J., and Bilezikian J. P. , The Journal of clinical endocrinology and metabolism, 1998 Jul, Volume 83, Issue 7, p.2286-90, (1998) Abstract
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
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
Association of the complement factor H Y402H polymorphism with cardiovascular disease is dependent upon hypertension status: The ARIC study., Volcik, Kelly A., Ballantyne Christie M., Braun Michael C., Coresh Josef, Mosley Thomas H., and Boerwinkle Eric , American journal of hypertension, 2008 May, Volume 21, Issue 5, p.533-8, (2008) Abstract
Association of the IGF1 gene with fasting insulin levels., Willems, Sara M., Cornes Belinda K., Brody Jennifer A., Morrison Alanna C., Lipovich Leonard, Dauriz Marco, Chen Yuning, Liu Ching-Ti, Rybin Denis V., Gibbs Richard A., et al. , European journal of human genetics : EJHG, 2016 Feb 10, (2016) Abstract
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
Basic principles and technologies for deciphering the genetic map of cancer., Voidonikolas, Georgios, Kreml Stephanie S., Chen Changyi, Fisher William E., Brunicardi Charles F., Gibbs Richard A., and Gingras Marie-Claude , World journal of surgery, 2009 Apr, Volume 33, Issue 4, p.615-29, (2009) Abstract
Bayesian estimation of genomic copy number with single nucleotide polymorphism genotyping arrays., Guo, Beibei, Villagran Alejandro, Vannucci Marina, Wang Jian, Davis Caleb F., Man Tsz-Kwong, Lau Ching, and Guerra Rudy , BMC research notes, 2010, Volume 3, p.350, (2010) Abstract
The Cancer Genome Atlas Pan-Cancer analysis project., Chang, Kyle, Creighton Chad J., Davis Caleb F., Donehower Lawrence, Drummond Jennifer, Wheeler David, Ally Adrian, Balasundaram Miruna, Birol Inanc, Butterfield Yaron S. N., et al. , Nature genetics, 2013 Sep 26, Volume 45, Issue 10, p.1113-20, (2013)
Carbohydrate intake modifies associations between ANGPTL4[E40K] genotype and HDL-cholesterol concentrations in White men from the Atherosclerosis Risk in Communities (ARIC) study., Nettleton, Jennifer A., Volcik Kelly A., Hoogeveen Ron C., and Boerwinkle Eric , Atherosclerosis, 2009 Mar, Volume 203, Issue 1, p.214-20, (2009) Abstract
Causal Role of Alcohol Consumption in an Improved Lipid Profile: The Atherosclerosis Risk in Communities (ARIC) Study., Vu, Khanh N., Ballantyne Christie M., Hoogeveen Ron C., Nambi Vijay, Volcik Kelly A., Boerwinkle Eric, and Morrison Alanna C. , PloS one, 2016, Volume 11, Issue 2, p.e0148765, (2016) Abstract
The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions., Bamshad, Michael J., Shendure Jay A., Valle David, Hamosh Ada, Lupski James R., Gibbs Richard A., Boerwinkle Eric, Lifton Richard P., Gerstein Mark, Gunel Murat, et al. , American journal of medical genetics. Part A, 2012 Jul, Volume 158A, Issue 7, p.1523-5, (2012) Abstract

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