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Analysis of loss-of-function variants and 20 risk factor phenotypes in 8,554 individuals identifies loci influencing chronic disease.
Published in:
Nature Genetics, 2015, v. 47, n. 6, p. 640, doi. 10.1038/ng.3270
By:
- Li, Alexander H;
- Morrison, Alanna C;
- Polfus, Linda M;
- Yu, Bing;
- Liu, Xiaoming;
- Kovar, Christie;
- Metcalf, Ginger;
- Muzny, Donna;
- Veeraraghavan, Narayanan;
- Gibbs, Richard A;
- Cupples, L Adrienne;
- Brody, Jennifer A;
- Lumley, Thomas;
- Mosley, Thomas H;
- Boerwinkle, Eric
Publication type:
Article
Convergent evolution of the genomes of marine mammals.
Published in:
Nature Genetics, 2015, v. 47, n. 3, p. 272, doi. 10.1038/ng.3198
By:
- Foote, Andrew D;
- Nielsen, Rasmus;
- Raney, Brian J;
- Vijay, Nagarjun;
- Wolf, Jochen B W;
- Hahn, Matthew W;
- Gilbert, M Thomas P;
- Liu, Yue;
- Deng, Jixin;
- Dugan, Shannon;
- Joshi, Vandita;
- Khan, Ziad;
- Kovar, Christie;
- Lee, Sandra L;
- Qin, Xiang;
- Qu, Jiaxin;
- Muzny, Donna M;
- Worley, Kim C;
- Gibbs, Richard A;
- Thomas, Gregg W C
Publication type:
Article
Associations of <i>NINJ2</i> Sequence Variants with Incident Ischemic Stroke in the Cohorts for Heart and Aging in Genomic Epidemiology (CHARGE) Consortium.
Published in:
PLoS ONE, 2014, v. 9, n. 6, p. 1, doi. 10.1371/journal.pone.0099798
By:
- Bis, Joshua C.;
- DeStefano, Anita;
- Liu, Xiaoming;
- Brody, Jennifer A.;
- Choi, Seung Hoan;
- Verhaaren, Benjamin F. J.;
- Debette, Stéphanie;
- Ikram, M. Arfan;
- Shahar, Eyal;
- Butler Jr, Kenneth R.;
- Gottesman, Rebecca F.;
- Muzny, Donna;
- Kovar, Christie L.;
- Psaty, Bruce M.;
- Hofman, Albert;
- Lumley, Thomas;
- Gupta, Mayetri;
- Wolf, Philip A.;
- van Duijn, Cornelia;
- Gibbs, Richard A.
Publication type:
Article
The finished DNA sequence of human chromosome 12.
Published in:
Nature, 2006, v. 440, n. 7082, p. 346, doi. 10.1038/nature04569
By:
- Scherer, Steven E.;
- Muzny, Donna M.;
- Buhay, Christian J.;
- Chen, Rui;
- Cree, Andrew;
- Yan Ding;
- Dugan-Rocha, Shannon;
- Gill, Rachel;
- Gunaratne, Preethi;
- Harris, R. Alan;
- Hawes, Alicia C.;
- Hernandez, Judith;
- Hodgson, Anne V.;
- Hume, Jennifer;
- Jackson, Andrew;
- Khan, Ziad Mohid;
- Kovar-Smith, Christie;
- Lewis, Lora R.;
- Lozado, Ryan J.;
- Metzker, Michael L.
Publication type:
Article
Whole-exome sequencing of 14 389 individuals from the ESP and CHARGE consortia identifies novel rare variation associated with hemostatic factors.
Published in:
Human Molecular Genetics, 2022, v. 31, n. 18, p. 3120, doi. 10.1093/hmg/ddac100
By:
- Pankratz, Nathan;
- Wei, Peng;
- Brody, Jennifer A;
- Chen, Ming-Huei;
- Vries, Paul S de;
- Huffman, Jennifer E;
- Stimson, Mary Rachel;
- Auer, Paul L;
- Boerwinkle, Eric;
- Cushman, Mary;
- Maat, Moniek P M de;
- Folsom, Aaron R;
- Franco, Oscar H;
- Gibbs, Richard A;
- Haagenson, Kelly K;
- Hofman, Albert;
- Johnsen, Jill M;
- Kovar, Christie L;
- Kraaij, Robert;
- McKnight, Barbara
Publication type:
Article
Comprehensive molecular characterization of human colon and rectal cancer.
Published in:
Nature, 2012, v. 487, n. 7407, p. 330, doi. 10.1038/nature11252
By:
- Muzny, Donna M.;
- Bainbridge, Matthew N.;
- Chang, Kyle;
- Dinh, Huyen H.;
- Drummond, Jennifer A.;
- Fowler, Gerald;
- Kovar, Christie L.;
- Lewis, Lora R.;
- Morgan, Margaret B.;
- Newsham, Irene F.;
- Reid, Jeffrey G.;
- Santibanez, Jireh;
- Shinbrot, Eve;
- Trevino, Lisa R.;
- Wu, Yuan-Qing;
- Wang, Min;
- Gunaratne, Preethi;
- Donehower, Lawrence A.;
- Creighton, Chad J.;
- Wheeler, David A.
Publication type:
Article
Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy.
Published in:
Genome Medicine, 2013, v. 5, n. 6, p. 1, doi. 10.1186/gm461
By:
- Lupski, James R.;
- Gonzaga-Jauregui, Claudia;
- Yaping Yang;
- Bainbridge, Matthew N.;
- Jhangiani, Shalini;
- Buhay, Christian J.;
- Kovar, Christie L.;
- Min Wang;
- Hawes, Alicia C.;
- Reid, Jeffrey G.;
- Eng, Christine;
- Muzny, Donna M.;
- Gibbs, Richard A.
Publication type:
Article
Genetic sex validation for sample tracking in next-generation sequencing clinical testing.
Published in:
BMC Research Notes, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s13104-024-06723-w
By:
- Hu, Jianhong;
- Korchina, Viktoriya;
- Zouk, Hana;
- Harden, Maegan V.;
- Murdock, David;
- Macbeth, Alyssa;
- Harrison, Steven M.;
- Lennon, Niall;
- Kovar, Christie;
- Balasubramanian, Adithya;
- Zhang, Lan;
- Chandanavelli, Gauthami;
- Pasham, Divya;
- Rowley, Robb;
- Wiley, Ken;
- Smith, Maureen E.;
- Gordon, Adam;
- Jarvik, Gail P.;
- Sleiman, Patrick;
- Kelly, Melissa A.
Publication type:
Article
Complete genome sequence of Enterococcus faecium strain TX16 and comparative genomic analysis of Enterococcus faecium genomes.
Published in:
BMC Microbiology, 2012, v. 12, n. 1, p. 135, doi. 10.1186/1471-2180-12-135
By:
- Xiang Qin;
- Galloway-Peï¿½a, Jessica R.;
- Sillanpaa, Jouko;
- Hyeob Roh, Jung;
- Nallapareddy, Sreedhar R.;
- Chowdhury, Shahreen;
- Bourgogne, Agathe;
- Choudhury, Tina;
- Muzny, Donna M.;
- Buhay, Christian J.;
- Yan Ding;
- Dugan-Rocha, Shannon;
- Wen Liu;
- Kovar, Christie;
- Sodergren, Erica;
- Highlander, Sarah;
- Petrosino, Joseph F.;
- Worley, Kim C.;
- Gibbs, Richard A.;
- Weinstock, George M.
Publication type:
Article

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