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  • Showing 1-14 of 14 Results
2016
Targeted Sequencing of Genome Wide Significant Loci Associated with Bone Mineral Density (BMD) Reveals Significant Novel and Rare Variants: The Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Targeted Sequencing Study.Hsu, YH, Li G., Liu CT, Brody JA, Karasik D., Chou WC, Demissie S., Nandakumar K., Zhou Y., Cheng CH, Gill R., Gibbs RA, Muzny D., Santibanez J., Estrada K., Rivadeneira F., Harris T., Gudnason V., Uitterlinden A., Psaty BM, et al. Human molecular genetics, 2016/09/11, (2016) Read More / View Supplemental Materials
Abstract
Whole Exome Sequencing in Atrial Fibrillation.Lubitz, SA, Brody JA, Bihlmeyer NA, Roselli C., Weng LC, Christophersen IE, Alonso A., Boerwinkle E., Gibbs RA, Bis JC, NHLBI GO Exome Sequencing Project, Cupples LA, Mohler PJ, Nickerson DA, Muzny D., Perez MV, Psaty BM, Soliman EZ, Sotoodehnia N., Lunetta KL, et al. PLoS genetics, 2016/09/01, Volume 12, Issue 9, p.e1006284, (2016) Read More / View Supplemental Materials
Abstract
Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis.Polfus, LM, Khajuria RK, Schick UM, Pankratz N., Pazoki R., Brody JA, Chen MH, Auer PL, Floyd JS, Huang J., Lange L., van Rooij FJ, Gibbs RA, Metcalf G., Muzny D., Veeraraghavan N., Walter K., Chen L., Yanek L., Becker LC, et al. American journal of human genetics, 2016/08/04, Volume 99, Issue 2, p.481-8, (2016) Read More / View Supplemental Materials
Abstract
Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.Green, RC, Goddard KA, Jarvik GP, Amendola LM, Appelbaum PS, Berg JS, Bernhardt BA, Biesecker LG, Biswas S., Blout CL, Bowling KM, Brothers KB, Burke W., Caga-Anan CF, Chinnaiyan AM, Chung WK, Clayton EW, Cooper GM, East K., Evans JP, et al. American journal of human genetics, 2016/05/12, (2016) Read More / View Supplemental Materials
Abstract
Multilevel Genomics-Based Taxonomy of Renal Cell Carcinoma.Chen, F., Zhang Y., Şenbabaoğlu Y., Ciriello G., Yang L., Reznik E., Shuch B., Micevic G., De Velasco G., Shinbrot E., Noble MS, Lu Y., Covington KR, Xi L., Drummond JA, Muzny D., Kang H., Lee J., Tamboli P., Reuter V., et al. Cell reports, 2016/03/02, (2016) Read More / View Supplemental Materials
Abstract
2015
Rare Exome Sequence Variants in CLCN6 Reduce Blood Pressure Levels and Hypertension Risk.Yu, B., Pulit SL, Hwang SJ, Brody JA, Amin N., Auer PL, Bis JC, Boerwinkle E., Burke GL, Chakravarti A., Correa A., Dreisbach AW, Franco OH, Ehret GB, Franceschini N., Hofman A., Lin DY, Metcalf GA, Musani SK, Muzny D., et al. Circulation. Cardiovascular genetics, 2015/12/11, (2015) Read More / View Supplemental Materials
Abstract
Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome.Karaca, E., Yuregir OO, Bozdogan ST, Aslan H., Pehlivan D., Jhangiani SN, Akdemir ZC, Gambin T., Bayram Y., Atik MM, Erdin S., Muzny D., Gibbs RA, Lupski JR, and Baylor-Hopkins Center for Mendelian Genomics American journal of medical genetics. Part A, 2015/08/04, (2015) Read More / View Supplemental Materials
Abstract
2014
The Somatic Genomic Landscape of Chromophobe Renal Cell Carcinoma.Davis, CF, Ricketts CJ, Wang M., Yang L., Cherniack AD, Shen H., Buhay C., Kang H., Kim SC, Fahey CC, Hacker KE, Bhanot G., Gordenin DA, Chu A., Gunaratne PH, Biehl M., Seth S., Kaipparettu BA, Bristow CA, Donehower LA, et al. Cancer cell, 2014/08/20, (2014) Read More / View Supplemental Materials
Abstract
2013
The Cancer Genome Atlas Pan-Cancer analysis project.Cancer Genome Atlas Research, Network, Genome Characterization Center, Chang K., Creighton CJ, Davis C., Donehower L., Drummond J., Wheeler D., Ally A., Balasundaram M., Birol I., Butterfield YS, Chu A., Chuah E., Chun HJ, Dhalla N., Guin R., Hirst M., Hirst C., Holt RA, et al. Nature genetics, 2013/09/26, Volume 45, Issue 10, p.1113-20, (2013) Read More / View Supplemental Materials
Comprehensive molecular characterization of clear cell renal cell carcinoma.The Cancer Genome Atlas Research, Network, Analysis working group: Baylor College of Medicine, Creighton CJ, Morgan M., Gunaratne PH, Wheeler DA, Gibbs RA, BC Cancer Agency, Gordon Robertson A., Chu A., Broad Institute, Beroukhim R., Cibulskis K., Brigham & Women’s Hospital, Signoretti S., Brown University, Vandin Hsin-Ta Wu F., Raphael BJ, The University of Texas MD Anderson Cancer Center, Verhaak RG, et al. Nature, 2013/06/23, (2013) Read More / View Supplemental Materials
Abstract
Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders.Lim, ET, Raychaudhuri S., Sanders SJ, Stevens C., Sabo A., Macarthur DG, Neale BM, Kirby A., Ruderfer DM, Fromer M., Lek M., Liu L., Flannick J., Ripke S., Nagaswamy U., Muzny D., Reid JG, Hawes A., Newsham I., Wu Y., et al. Neuron, 2013/01/23, Volume 77, Issue 2, p.235-42, (2013) Read More / View Supplemental Materials
Abstract
2012
Patterns and rates of exonic de novo mutations in autism spectrum disorders.Neale, BM, Kou Y., Liu L., Ma'ayan A., Samocha KE, Sabo A., Lin CF, Stevens C., Wang LS, Makarov V., Polak P., Yoon S., Maguire J., Crawford EL, Campbell NG, Geller ET, Valladares O., Schafer C., Liu H., Zhao T., et al. Nature, 2012/04/04, (2012) Read More / View Supplemental Materials
Abstract
2009
Genomics. Genome project standards in a new era of sequencing.Chain, PS, Grafham DV, Fulton RS, FitzGerald MG, Hostetler J., Muzny D., Ali J., Birren B., Bruce DC, Buhay C., Cole JR, Ding Y., Dugan S., Field D., Garrity GM, Gibbs R., Graves T., Shan C., Harrison SH, Highlander S., et al. Science (New York, N.Y.), 2009/10/09, Volume 326, Issue 5950, p.236-7, (2009) Read More / View Supplemental Materials
2007
Genome-wide detection and characterization of positive selection in human populations.Sabeti, PC, Varilly P., Fry B., Lohmueller J., Hostetter E., Cotsapas C., Xie X., Byrne EH, McCarroll SA, Gaudet R., Schaffner SF, Lander E. S., International HapMap Consortium, Frazer KA, Ballinger DG, Cox DR, Hinds DA, Stuve LL, Gibbs RA, Belmont JW, et al. Nature, 2007/10/18, Volume 449, Issue 7164, p.913-8, (2007) Read More / View Supplemental Materials
Abstract
  • Showing 1-14 of 14 Results