Skip to Content

Publications

Filters: First Letter Of Last Name is B  [Clear All Filters]
A [B] C D E F G H I J K L M N O P Q R S T U V W X Y Z   [Show ALL]
R
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
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
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)
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
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
Reassessment of biochemically determined Hunter syndrome carrier status by DNA testing., Timms, K. M., Edwards F. J., Belmont J. W., Yates J. R., and Gibbs R. A. , Journal of medical genetics, 1998 Aug, Volume 35, Issue 8, p.646-9, (1998) Abstract
Reactivity of antibodies from syphilis patients to a protein array representing the Treponema pallidum proteome., Brinkman, Mary Beth, McKevitt Matthew, McLoughlin Melanie, Perez Carla, Howell Jerrilyn, Weinstock George M., Norris Steven J., and Palzkill Timothy , Journal of clinical microbiology, 2006 Mar, Volume 44, Issue 3, p.888-91, (2006) Abstract
Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome., Karaca, Ender, Yuregir Ozge O., Bozdogan Sevcan T., Aslan Huseyin, Pehlivan Davut, Jhangiani Shalini N., Akdemir Zeynep C., Gambin Tomasz, Bayram Yavuz, Atik Mehmed M., et al. , American journal of medical genetics. Part A, 2015 Aug 4, (2015) Abstract
Rare variants analysis using penalization methods for whole genome sequence data., Yazdani, Akram, Yazdani Azam, and Boerwinkle Eric , BMC bioinformatics, 2015, Volume 16, p.405, (2015) 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
Rare Exome Sequence Variants in CLCN6 Reduce Blood Pressure Levels and Hypertension Risk., Yu, Bing, Pulit Sara L., Hwang Shih-Jen, Brody Jennifer A., Amin Najaf, Auer Paul L., Bis Joshua C., Boerwinkle Eric, Burke Gregory L., Chakravarti Aravinda, et al. , Circulation. Cardiovascular genetics, 2015 Dec 11, (2015) Abstract
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
Rare and low-frequency variants and their association with plasma levels of fibrinogen, FVII, FVIII, and vWF., Huffman, Jennifer E., de Vries Paul S., Morrison Alanna C., Sabater-Lleal Maria, Kacprowski Tim, Auer Paul L., Brody Jennifer A., Chasman Daniel I., Chen Ming-Huei, Guo Xiuqing, et al. , Blood, 2015 Sep 10, Volume 126, Issue 11, p.e19-29, (2015) Abstract
Rapid molecular cytogenetic analysis of X-chromosomal microdeletions: fluorescence in situ hybridization (FISH) for complex glycerol kinase deficiency., Worley, K. C., Lindsay E. A., Bailey W., Wise J., McCabe E. R., and Baldini A. , American journal of medical genetics, 1995 Jul 17, Volume 57, Issue 4, p.615-9, (1995) Abstract
Q
Quantitative trait loci for peripheral blood cell counts: a study in baboons., Bertin, Angéline, Mahaney Michael C., Cox Laura A., Rogers Jeffrey, VandeBerg John L., Brugnara Carlo, and Platt Orah S. , Mammalian genome : official journal of the International Mammalian Genome Society, 2007 May, Volume 18, Issue 5, p.361-72, (2007) Abstract
Quantitative loci regulating plasma levels of gamma glutamyl transferase and albumin and their genetic correlations with cardiovascular risk factors., Bose, Tanushree, Voruganti Saroja V., Tejero Elizabeth M., Proffitt Michael J., Cox Laura A., VandeBerg John L., Mahaney Michael C., Rogers Jeffrey, Freeland-Graves Jeanne H., Cole Shelley A., et al. , Experimental biology and medicine (Maywood, N.J.), 2009 Dec, Volume 234, Issue 12, p.vi, 1519-24, (2009) Abstract
P
PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13., Maheshwari, M., Belmont J., Fernbach S., Ho T., Molinari L., Yakub I., Yu F., Combes A., Towbin J., Craigen W. J., et al. , Human mutation, 2002 Oct, Volume 20, Issue 4, p.298-304, (2002) Abstract
Prospective associations of coronary heart disease loci in African Americans using the MetaboChip: the PAGE study., Franceschini, Nora, Hu Yijuan, Reiner Alex P., Buyske Steven, Nalls Mike, Yanek Lisa R., Li Yun, Hindorff Lucia A., Cole Shelley A., Howard Barbara V., et al. , PloS one, 2014, Volume 9, Issue 12, p.e113203, (2014) Abstract
A proposed architecture for ambulatory systems development., Buffone, G. J., Petermann C. A., Bobroff R. B., Moore D. M., Dargahi R., Moreau D. R., Gilson H. S., Li Y., Fowler J., and Beck J. R. , Medinfo. MEDINFO, 1995, Volume 8 Pt 1, p.363-6, (1995) Abstract
A primer on a hepatocellular carcinoma bioresource bank using the cancer genome atlas guidelines: practical issues and pitfalls., Nguyen, Thao N. T., Cotton Ron T., Harring Theresa R., Guiteau Jacfranz J., Gingras Marie-Claude, Wheeler David A., O'Mahony Christine A., Gibbs Richard A., Brunicardi Charles F., and Goss John A. , World journal of surgery, 2011 Aug, Volume 35, Issue 8, p.1732-7, (2011) Abstract
Prepublication data sharing., Birney, Ewan, Hudson Thomas J., Green Eric D., Gunter Chris, Eddy Sean, Rogers Jane, Harris Jennifer R., Ehrlich Dusko S., Apweiler Rolf, Austin Christopher P., et al. , Nature, 2009 Sep 10, Volume 461, Issue 7261, p.168-70, (2009) Abstract
A preliminary study of the baboon prostate pathophysiology., Mubiru, James N., Hubbard Gene B., Dick Edward J., Butler Stephanie D., Valente Anthony J., Troyer Dean A., and Rogers Jeffrey , The Prostate, 2007 Sep 15, Volume 67, Issue 13, p.1421-31, (2007) Abstract
A preliminary report on the feeding of cynomolgus monkeys (Macaca fascicularis) with a high-sugar high-fat diet for 33 weeks., Mubiru, James N., Garcia-Forey Magdalena, Higgins Paul B., Hemmat Peggah, Cavazos Nicole E., Dick Edward J., Owston Michael A., Bauer Cassondra A., Shade Robert E., Comuzzie Anthony G., et al. , Journal of medical primatology, 2011 Oct, Volume 40, Issue 5, p.335-41, (2011) Abstract
Predominance of a type 2 intratumoural immune response in fresh tumour-infiltrating lymphocytes from human gliomas., Roussel, E., Gingras M. C., Grimm E. A., Bruner J. M., and Moser R. P. , Clinical and experimental immunology, 1996 Aug, Volume 105, Issue 2, p.344-52, (1996) Abstract
Prediction of coronary heart disease risk using a genetic risk score: the Atherosclerosis Risk in Communities Study., Morrison, Alanna C., Bare Lance A., Chambless Lloyd E., Ellis Stephen G., Malloy Mary, Kane John P., Pankow James S., Devlin James J., Willerson James T., and Boerwinkle Eric , American journal of epidemiology, 2007 Jul 1, Volume 166, Issue 1, p.28-35, (2007) Abstract


about seo