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Publications

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2015
Recurrent BCAM-AKT2 fusion gene leads to a constitutively activated AKT2 fusion kinase in high-grade serous ovarian carcinoma., Kannan, Kalpana, Coarfa Cristian, Chao Pei-Wen, Luo Liming, Wang Yan, Brinegar Amy E., Hawkins Shannon M., Milosavljevic Aleksandar, Matzuk Martin M., and Yen Laising , Proceedings of the National Academy of Sciences of the United States of America, 2015 Mar 17, Volume 112, Issue 11, p.E1272-7, (2015) Abstract
Roger et Al. Respond to "future of population studies"., Roger, Véronique L., Boerwinkle Eric, Crapo James D., Douglas Pamela S., Epstein Jonathan A., Granger Christopher B., Greenland Philip, Kohane Isaac, and Psaty Bruce M. , American journal of epidemiology, 2015 Mar 15, Volume 181, Issue 6, p.372-3, (2015)
Recurrent DGCR8, DROSHA, and SIX homeodomain mutations in favorable histology Wilms tumors., Walz, Amy L., Ooms Ariadne, Gadd Samantha, Gerhard Daniela S., Smith Malcolm A., Guidry Auvil Jamie M., Meerzaman Daoud, Chen Qing-Rong, Hsu Chih Hao, Yan Chunhua, et al. , Cancer cell, 2015 Feb 9, Volume 27, Issue 2, p.286-97, (2015) Abstract
Rise and fall of subclones from diagnosis to relapse in pediatric B-acute lymphoblastic leukaemia., Ma, Xiaotu, Edmonson Michael, Yergeau Donald, Muzny Donna M., Hampton Oliver A., Rusch Michael, Song Guangchun, Easton John, Harvey Richard C., Wheeler David A., et al. , Nature communications, 2015, Volume 6, p.6604, (2015) Abstract
2014
The relationship of JAK2(V617F) and acquired UPD at chromosome 9p in polycythemia vera., Wang, L., Swierczek S. I., Lanikova L., Kim Sj, Hickman K., Walker K., Wang K., Drummond J., Doddapaneni H., Reid J. G., et al. , Leukemia, 2014 Apr, Volume 28, Issue 4, p.938-41, (2014)
Regulation of Drosophila eye development by the transcription factor Sine oculis., Jusiak, Barbara, Karandikar Umesh C., Kwak Su-Jin, Wang Feng, Wang Hui, Chen Rui, and Mardon Graeme , PloS one, 2014, Volume 9, Issue 2, p.e89695, (2014) Abstract
Recurrent CNVs and SNVs at the NPHP1 Locus Contribute Pathogenic Alleles to Bardet-Biedl Syndrome, Lindstrand, Anna, Davis Erica E., Carvalho Claudia M.B., Pehlivan Davut, Willer Jason R., Tsai I-Chun, Ramanathan Subhadra, Zuppan Craig, Sabo Aniko, Muzny Donna, et al. , The American Journal of Human Genetics, 05/2014, Volume 94, Issue 5, p.745 - 754, (2014)
2013
A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia., Shah, Sohela, Schrader Kasmintan A., Waanders Esmé, Timms Andrew E., Vijai Joseph, Miething Cornelius, Wechsler Jeremy, Yang Jun, Hayes James, Klein Robert J., et al. , Nature genetics, 2013 Oct, Volume 45, Issue 10, p.1226-31, (2013) Abstract
Replicative mechanisms for CNV formation are error prone., Carvalho, Claudia M. B., Pehlivan Davut, Ramocki Melissa B., Fang Ping, Alleva Benjamin, Franco Luis M., Belmont John W., Hastings P. J., and Lupski James R. , Nature genetics, 2013 Nov, Volume 45, Issue 11, p.1319-26, (2013) Abstract
RNA interference knockdown of DNA methyl-transferase 3 affects gene alternative splicing in the honey bee., Li-Byarlay, Hongmei, Li Yang, Stroud Hume, Feng Suhua, Newman Thomas C., Kaneda Megan, Hou Kirk K., Worley Kim C., Elsik Christine G., Wickline Samuel A., et al. , Proceedings of the National Academy of Sciences of the United States of America, 2013 Jul 30, Volume 110, Issue 31, p.12750-5, (2013) Abstract
Reporting genomic sequencing results to ordering clinicians: incidental, but not exceptional., Green, Robert C., Lupski James R., and Biesecker Leslie G. , JAMA : the journal of the American Medical Association, 2013 Jul 24, Volume 310, Issue 4, p.365-6, (2013)
Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders., Lim, Elaine T., Raychaudhuri Soumya, Sanders Stephan J., Stevens Christine, Sabo Aniko, MacArthur Daniel G., Neale Benjamin M., Kirby Andrew, Ruderfer Douglas M., Fromer Menachem, et al. , Neuron, 2013 Jan 23, Volume 77, Issue 2, p.235-42, (2013) Abstract
2012
The role of drinking water sources, consumption of vegetables and seafood in relation to blood arsenic concentrations of Jamaican children with and without Autism Spectrum Disorders., Rahbar, Mohammad H., Samms-Vaughan Maureen, Ardjomand-Hessabi Manouchehr, Loveland Katherine A., Dickerson Aisha S., Chen Zhongxue, Bressler Jan, Shakespeare-Pellington Sydonnie, Grove Megan L., Bloom Kari, et al. , The Science of the total environment, 2012 Sep 1, Volume 433, p.362-70, (2012) Abstract
Residual plasmatic activity of ADAMTS13 is correlated with phenotype severity in congenital thrombotic thrombocytopenic purpura., Lotta, Luca A., Wu Haifeng M., Mackie Ian J., Noris Marina, Veyradier Agnes, Scully Marie A., Remuzzi Giuseppe, Coppo Paul, Liesner Ri, Donadelli Roberta, et al. , Blood, 2012 Jul 12, Volume 120, Issue 2, p.440-8, (2012) Abstract
REGγ is associated with multiple oncogenic pathways in human cancers., He, Jing, Cui Long, Zeng Yu, Wang Guangqiang, Zhou Ping, Yang Yuanyuan, Ji Lei, Zhao Yanyan, Chen Jiwu, Wang Zhuo, et al. , BMC cancer, 2012, Volume 12, p.75, (2012) Abstract
2011
Resequencing of IRS2 reveals rare variants for obesity but not fasting glucose homeostasis in Hispanic children., Butte, Nancy F., Voruganti Saroja V., Cole Shelley A., Haack Karin, Comuzzie Anthony G., Muzny Donna M., Wheeler David A., Chang Kyle, Hawes Alicia, and Gibbs Richard A. , Physiological genomics, 2011 Sep 22, Volume 43, Issue 18, p.1029-37, (2011) Abstract
Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections., Kuang, Shao-Qing, Guo Dong-Chuan, Prakash Siddharth K., McDonald Merry-Lynn N., Johnson Ralph J., Wang Min, Regalado Ellen S., Russell Ludivine, Cao Jiu-Mei, Kwartler Callie, et al. , PLoS genetics, 2011 Jun, Volume 7, Issue 6, p.e1002118, (2011) Abstract
ReadDepth: a parallel R package for detecting copy number alterations from short sequencing reads., Miller, Christopher A., Hampton Oliver, Coarfa Cristian, and Milosavljevic Aleksandar , PloS one, 2011, Volume 6, Issue 1, p.e16327, (2011) Abstract
The Red-R Framework for Integrated Discovery, Covington, Kyle R., and Parikh Anup , The Red-R Journal, Number 1-08/08/2011, (2011)
2010
Rapid identification of heterozygous mutations in Drosophila melanogaster using genomic capture sequencing., Wang, Hui, Chattopadhyay Abanti, Li Zhe, Daines Bryce, Li Yumei, Gao Chunxu, Gibbs Richard, Zhang Kun, and Chen Rui , Genome research, 2010 Jul, Volume 20, Issue 7, p.981-8, (2010) Abstract
Risk of type 2 diabetes and obesity is differentially associated with variation in FTO in whites and African-Americans in the ARIC study., Bressler, Jan, Kao Linda W. H., Pankow James S., and Boerwinkle Eric , PloS one, 2010, Volume 5, Issue 5, p.e10521, (2010) Abstract
2009
Resources for genetic management and genomics research on non-human primates at the National Primate Research Centers (NPRCs)., Kanthaswamy, S., Capitanio J. P., Dubay C. J., Ferguson B., Folks T., Ha J. C., Hotchkiss C. E., Johnson Z. P., Katze M. G., Kean L. S., et al. , Journal of medical primatology, 2009 Oct, Volume 38 Suppl 1, p.17-23, (2009) Abstract
Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans., Romeo, Stefano, Yin Wu, Kozlitina Julia, Pennacchio Len A., Boerwinkle Eric, Hobbs Helen H., and Cohen Jonathan C. , The Journal of clinical investigation, 2009 Jan, Volume 119, Issue 1, p.70-9, (2009) Abstract
Replication of long-bone length QTL in the F9-F10 LG,SM advanced intercross., Norgard, Elizabeth A., Jarvis Joseph P., Roseman Charles C., Maxwell Taylor J., Kenney-Hunt Jane P., Samocha Kaitlin E., Pletscher Susan L., Wang Bing, Fawcett Gloria L., Leatherwood Christopher J., et al. , Mammalian genome : official journal of the International Mammalian Genome Society, 2009 Apr, Volume 20, Issue 4, p.224-35, (2009) Abstract
2008
Regional association-based fine-mapping for sodium-lithium countertransport on chromosome 10., Morrison, Alanna C., Boerwinkle Eric, Turner Stephen T., and Ferrell Robert E. , American journal of hypertension, 2008 Jan, Volume 21, Issue 1, p.117-21, (2008) Abstract


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