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Publications

Journal Article
Multilayer-omics analysis of renal cell carcinoma, including the whole exome, methylome and transcriptome., Arai, Eri, Sakamoto Hiromi, Ichikawa Hitoshi, Totsuka Hirohiko, Chiku Suenori, Gotoh Masahiro, Mori Taisuke, Nakatani Tamao, Ohnami Sumiko, Nakagawa Tohru, et al. , International journal of cancer. Journal international du cancer, 2014 Feb 6, (2014) Abstract
A multilocus approach to the antihypertensive pharmacogenetics of hydrochlorothiazide., Maitland-van der Zee, Anke-Hilse, Turner Stephen T., Schwartz Gary L., Chapman Arlene B., Klungel Olaf H., and Boerwinkle Eric , Pharmacogenetics and genomics, 2005 May, Volume 15, Issue 5, p.287-93, (2005) Abstract
Multiple cDNA sequences of bovine tracheal lysozyme., Takeuchi, K., Irwin D. M., Gallup M., Shinbrot E., Kai H., Stewart C. B., and Basbaum C. , The Journal of biological chemistry, 1993 Dec 25, Volume 268, Issue 36, p.27440-6, (1993) Abstract
Multiplex DNA amplification and solid-phase direct sequencing for mutation analysis at the hprt locus in Chinese hamster cells., Zu, Z., Yu Y., Gibbs R. A., Caskey C. T., and Hsie A. W. , Mutation research, 1993 Aug, Volume 288, Issue 2, p.237-48, (1993) Abstract
Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families., Gibbs, R. A., Nguyen P. N., Edwards A., Civitello A. B., and Caskey C. T. , Genomics, 1990 Jun, Volume 7, Issue 2, p.235-44, (1990) Abstract
Multiplex PCR: advantages, development, and applications., Edwards, M. C., and Gibbs R. A. , PCR methods and applications, 1994 Feb, Volume 3, Issue 4, p.S65-75, (1994)
The mutA mistranslator tRNA-induced mutator phenotype requires recA and recB genes, but not the derepression of lexA-regulated functions., Ren, L., Al Mamun A. A., and Humayun M. Z. , Molecular microbiology, 1999 May, Volume 32, Issue 3, p.607-15, (1999) Abstract
Mutant analysis of the Shal (Kv4) voltage-gated fast transient K+ channel in Caenorhabditis elegans., Fawcett, Gloria L., Santi Celia M., Butler Alice, Harris Thanawath, Covarrubias Manuel, and Salkoff Lawrence , The Journal of biological chemistry, 2006 Oct 13, Volume 281, Issue 41, p.30725-35, (2006) Abstract
Mutation screening of two candidate genes from 13q32 in families affected with Bipolar disorder: human peptide transporter (SLC15A1) and human glypican5 (GPC5)., Maheshwari, Manjula, Christian S. L., Liu C., Badner J. A., Detera-Wadleigh S., Gershon E. S., and Gibbs Richard A. , BMC genomics, 2002 Oct 22, Volume 3, Issue 1, p.30, (2002) Abstract
Mutation survey of known LCA genes and loci in the Saudi Arabian population., Li, Yumei, Wang Hui, Peng Jianlan, Gibbs Richard A., Lewis Richard Alan, Lupski James R., Mardon Graeme, and Chen Rui , Investigative ophthalmology & visual science, 2009 Mar, Volume 50, Issue 3, p.1336-43, (2009) Abstract
Mutational analysis of the latency-associated nuclear antigen DNA-binding domain of Kaposi's sarcoma-associated herpesvirus reveals structural conservation among gammaherpesvirus origin-binding proteins., Han, Soo-Jin, Hu Jianhong, Pierce Brian, Weng Zhiping, and Renne Rolf , The Journal of general virology, 2010 Sep, Volume 91, Issue Pt 9, p.2203-15, (2010) Abstract
Mutational landscape of aggressive cutaneous squamous cell carcinoma., Pickering, Curtis R., Zhou Jane H., Lee Jack J., Drummond Jennifer A., Peng Andrew S., Saade Rami E., Tsai Kenneth Y., Curry Jonathan, Tetzlaff Michael T., Lai Stephen Y., et al. , Clinical cancer research : an official journal of the American Association for Cancer Research, 2014 Oct 10, (2014) Abstract
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)
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
Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome., Campeau, Philippe M., Kim Jaeseung C., Lu James T., Schwartzentruber Jeremy A., Abdul-Rahman Omar A., Schlaubitz Silke, Murdock David M., Jiang Ming-Ming, Lammer Edward J., Enns Gregory M., et al. , American journal of human genetics, 2012 Feb 10, Volume 90, Issue 2, p.282-9, (2012) Abstract
Mutations in KCTD1 cause scalp-ear-nipple syndrome., Marneros, Alexander G., Beck Anita E., Turner Emily H., McMillin Margaret J., Edwards Matthew J., Field Michael, de Macena Sobreira Nara Lygia, Perez Ana Beatriz A., Fortes Jose A. R., Lampe Anne K., et al. , American journal of human genetics, 2013 Apr 4, Volume 92, Issue 4, p.621-6, (2013) Abstract
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 : official journal of the American College of Medical Genetics, 2014 Mar 20, (2014) Abstract
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 : official journal of the American College of Medical Genetics, 2014 Oct, Volume 16, Issue 10, p.751-8, (2014) Abstract
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)
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration, Koenekoop, Robert K., Wang Hui, Majewski Jacek, Wang Xia, Lopez Irma, Ren Huanan, Chen Yiyun, Li Yumei, Fishman Gerald A., Genead Mohammed, et al. , Nature Genetics, 7/2012, Volume 44, Issue 9, p.1035 - 1039, (2012)
Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease., Guo, Dong-Chuan, Papke Christina L., Tran-Fadulu Van, Regalado Ellen S., Avidan Nili, Johnson Ralph Jay, Kim Dong H., Pannu Hariyadarshi, Willing Marcia C., Sparks Elizabeth, et al. , American journal of human genetics, 2009 May, Volume 84, Issue 5, p.617-27, (2009) Abstract
Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections., Guo, Dong-Chuan, Pannu Hariyadarshi, Tran-Fadulu Van, Papke Christina L., Yu Robert K., Avidan Nili, Bourgeois Scott, Estrera Anthony L., Safi Hazim J., Sparks Elizabeth, et al. , Nature genetics, 2007 Dec, Volume 39, Issue 12, p.1488-93, (2007) Abstract
Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm., Doyle, Alexander J., Doyle Jefferson J., Bessling Seneca L., Maragh Samantha, Lindsay Mark E., Schepers Dorien, Gillis Elisabeth, Mortier Geert, Homfray Tessa, Sauls Kimberly, et al. , Nature genetics, 2012 Nov, Volume 44, Issue 11, p.1249-54, (2012) Abstract
Mutations in VRK1 Associated With Complex Motor and Sensory Axonal Neuropathy Plus Microcephaly., Gonzaga-Jauregui, Claudia, Lotze Timothy, Jamal Leila, Penney Samantha, Campbell Ian M., Pehlivan Davut, Hunter Jill V., Woodbury Suzanne L., Raymond Gerald, Adesina Adekunle M., et al. , JAMA neurology, 2013 Oct 14, (2013) Abstract
Mutually exclusive recurrent somatic mutations in MAP2K1 and BRAF support a central role for ERK activation in LCH pathogenesis., Chakraborty, Rikhia, Hampton Oliver A., Shen Xiaoyun, Simko Stephen, Shih Albert, Abhyankar Harshal, Lim Karen Phaik Har, Covington Kyle, Trevino Lisa, Dewal Ninad, et al. , Blood, 2014 Sep 8, (2014) Abstract


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