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Publications

2014
Open access data sharing in genomic research., Pereira, Stacey, Gibbs Richard A., and McGuire Amy L. , Genes, 2014, Volume 5, Issue 3, p.739-47, (2014) Abstract
PBHoney: identifying genomic variants via long-read discordance and interrupted mapping., English, Adam C., Salerno William J., and Reid Jeffrey G. , BMC bioinformatics, 2014, Volume 15, p.180, (2014) Abstract
Possible race and gender divergence in association of genetic variations with plasma von Willebrand factor: a study of ARIC and 1000 genome cohorts., Zhou, Zhou, Yu Fuli, Buchanan Ashley, Fu Yuanyuan, Campos Marco, Wu Kenneth K., Chambless Lloyd E., Folsom Aaron R., Boerwinkle Eric, and Dong Jing-fei , PloS one, 2014, Volume 9, Issue 1, p.e84810, (2014) 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
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
Sequence Analysis of Six Blood Pressure Candidate Regions in 4,178 Individuals: The Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Targeted Sequencing Study., Morrison, Alanna C., Bis Joshua C., Hwang Shih-Jen, Ehret Georg B., Lumley Thomas, Rice Kenneth, Muzny Donna, Gibbs Richard A., Boerwinkle Eric, Psaty Bruce M., et al. , PloS one, 2014, Volume 9, Issue 10, p.e109155, (2014) Abstract
Sequence Analysis of Six Blood Pressure Candidate Regions in 4,178 Individuals: The Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Targeted Sequencing Study., Morrison, Alanna C., Bis Joshua C., Hwang Shih-Jen, Ehret Georg B., Lumley Thomas, Rice Kenneth, Muzny Donna, Gibbs Richard A., Boerwinkle Eric, Psaty Bruce M., et al. , PloS one, 2014, Volume 9, Issue 10, p.e109155, (2014) Abstract
Whole exome sequencing identifies novel genes for fetal hemoglobin response to hydroxyurea in children with sickle cell anemia., Sheehan, Vivien A., Crosby Jacy R., Sabo Aniko, Mortier Nicole A., Howard Thad A., Muzny Donna M., Dugan-Perez Shannon, Aygun Banu, Nottage Kerri A., Boerwinkle Eric, et al. , PloS one, 2014, Volume 9, Issue 10, p.e110740, (2014) Abstract
Inactivating Mutations in NPC1L1 and Protection from Coronary Heart Disease, , New England Journal of Medicine, 11/2014, p.141112140016008, (2014)
Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing, Yang, Yaping, Muzny Donna M., Xia Fan, Niu Zhiyv, Person Richard, Ding Yan, Ward Patricia, Braxton Alicia, Wang Min, Buhay Christian, et al. , JAMA, 11/2014, Volume 312, Issue 18, p.1870, (2014)
Trans-ancestry mutational landscape of hepatocellular carcinoma genomes, Totoki, Yasushi, Tatsuno Kenji, Covington Kyle R., Ueda Hiroki, Creighton Chad J., Kato Mamoru, Tsuji Shingo, Donehower Lawrence A., Slagle Betty L., Nakamura Hiromi, et al. , Nature Genetics, 11/2014, (2014)
Next-generation sequencing identifies rare variants associated with Noonan syndrome, Chen, P. - C., Yin J., Yu H. - W., Yuan T., Fernandez M., Yung C. K., Trinh Q. M., Peltekova V. D., Reid J. G., Tworog-Dube E., et al. , Proceedings of the National Academy of Sciences, 08/2014, Volume 111, Issue 31, p.11473 - 11478, (2014)
Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population, Gonzaga-Jauregui, Claudia, Gamble Candace N., Yuan Bo, Penney Samantha, Jhangiani Shalini, Muzny Donna M., Gibbs Richard A., Lupski James R., and Hecht Jacqueline T. , European Journal of Human Genetics, 07/2014, (2014)
Natural variation in genome architecture among 205 Drosophila melanogaster Genetic Reference Panel lines, Huang, W., Massouras A., Inoue Y., Peiffer J., Ramia M., Tarone A. M., Turlapati L., Zichner T., Zhu D., Lyman R. F., et al. , Genome Research, 07/2014, Volume 24, Issue 7, p.1193 - 1208, (2014)
PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia, Stray-Pedersen, Asbjørg, Backe Paul H., Sorte Hanne S., Mørkrid Lars, Chokshi Niti Y., Erichsen Hans Christian, Gambin Tomasz, Elgstøen Katja B.P., Bjørås Magnar, Wlodarski Marcin W., et al. , The American Journal of Human Genetics, 07/2014, Volume 95, Issue 1, p.96 - 107, (2014)
Squamous Cell Carcinoma of the Oral Tongue in Young Non-Smokers Is Genomically Similar to Tumors in Older Smokers, Pickering, C. R., Zhang J., Neskey D. M., Zhao M., Jasser S. A., Wang J., Ward A., Tsai C. J., Ortega Alves M. V., Zhou J. H., et al. , Clinical Cancer Research, 07/2014, Volume 20, Issue 14, p.3842 - 3848, (2014)
Monoallelic and Biallelic Mutations in MAB21L2 Cause a Spectrum of Major Eye Malformations, Rainger, Joe, Pehlivan Davut, Johansson Stefan, Bengani Hemant, Sanchez-Pulido Luis, Williamson Kathleen A., Ture Mehmet, Barker Heather, Rosendahl Karen, Spranger Jürgen, et al. , The American Journal of Human Genetics, 06/2014, Volume 94, Issue 6, p.915 - 923, (2014)
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)
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway, Enns, Gregory M., Shashi Vandana, Bainbridge Matthew, Gambello Michael J., Zahir Farah R., Bast Thomas, Crimian Rebecca, Schoch Kelly, Platt Julia, Cox Rachel, et al. , Genetics in Medicine, 03/2014, (2014)
Draft genome sequences and description of Lactobacillus rhamnosus strains L31, L34, and L35, Boonma, Prapaporn, Spinler Jennifer K., Qin Xiang, Jittaprasatsin Chutima, Muzny Donna M., Doddapaneni Harsha, Gibbs Richard, Petrosino Joe, Tumwasorn Somying, and Versalovic James , Standards in Genomic Sciences, 02/2014, Volume 9, Issue 3, p.744 - 754, (2014)
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)
Genomic Characterization of Sinonasal Undifferentiated Carcinoma, Takahashi, Yoko, Pickering Curtis, Gelbard Alexander, Drummond Jennifer, Wheeler David A., Kupferman Michael E., Myers Jeffrey N., and Hanna Ehab Y. , Journal of Neurological Surgery Part B: Skull Base, Volume 75, Number S 01, p.A084, (2014)
New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11, Xie, Y., Lee W., Cai C., Gambin T., Noupuu K., Sujirakul T., Ayuso C., Jhangiani S., Muzny D., Boerwinkle E., et al. , Human Molecular Genetics, (2014)
2013
Whole-genome sequence–based analysis of high-density lipoprotein cholesterol, Morrison, Alanna C., Voorman Arend, Johnson Andrew D., Liu Xiaoming, Yu Jin, Li Alexander, Muzny Donna, Yu Fuli, Rice Kenneth, Zhu Chengsong, et al. , Nature Genetics, 6/2013, Volume 45, Issue 8, p.899 - 901, (2013)
Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance., Bonnen, Penelope E., Yarham John W., Besse Arnaud, Wu Ping, Faqeih Eissa A., Al-Asmari Ali Mohammad, Saleh Mohammad A. M., Eyaid Wafaa, Hadeel Alrukban, He Langping, et al. , American journal of human genetics, 2013 Sep 5, Volume 93, Issue 3, p.471-81, (2013) Abstract


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