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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)
Pretranscriptional regulation of Tgf-beta1 by PI polyamide prevents scarring and accelerates wound healing of the cornea after exposure to alkali., Chen, Min, Matsuda Hiroyuki, Wang Linghua, Watanabe Takayoshi, Kimura Makoto T., Igarashi Jun, Wang Xiaofei, Sakimoto Tohru, Fukuda Noboru, Sawa Mitsuru, et al. , Molecular therapy : the journal of the American Society of Gene Therapy, 2010 Mar, Volume 18, Issue 3, p.519-27, (2010) Abstract
Dynamic building of a BAC clone tiling path for the Rat Genome Sequencing Project., Chen, Rui, Sodergren Erica, Weinstock George M., and Gibbs Richard A. , Genome research, 2004 Apr, Volume 14, Issue 4, p.679-84, (2004) Abstract
Comparative validation of the D. melanogaster modENCODE transcriptome annotation., Chen, Zhen-Xia, Sturgill David, Qu Jiaxin, Jiang Huaiyang, Park Soo, Boley Nathan, Suzuki Ana Maria, Fletcher Anthony R., Plachetzki David C., FitzGerald Peter C., et al. , Genome research, 2014 Jul, Volume 24, Issue 7, p.1209-23, (2014) Abstract
A simple and evolutional approach proven to recanalise the nasolacrimal duct obstruction., Chen, D., Ge J., Wang L., Gao Q., Ma P., Li N., Li D. - Q., and Wang Z. , The British journal of ophthalmology, 2009 Nov, Volume 93, Issue 11, p.1438-43, (2009) Abstract
Levodopa-responsive aromatic L-amino acid decarboxylase deficiency., Chang, Yuh Terng, Sharma Radhakant, Marsh Lawrence J., McPherson John D., Bedell Joey A., Knust Andreas, Bräutigam Christa, Hoffmann Georg F., and Hyland Keith , Annals of neurology, 2004 Mar, Volume 55, Issue 3, p.435-8, (2004) Abstract
Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification., Chamberlain, J. S., Gibbs R. A., Ranier J. E., Nguyen P. N., and Caskey C. T. , Nucleic acids research, 1988 Dec 9, Volume 16, Issue 23, p.11141-56, (1988) Abstract
Expression of the murine Duchenne muscular dystrophy gene in muscle and brain., Chamberlain, J. S., Pearlman J. A., Muzny D. M., Gibbs R. A., Ranier J. E., Caskey C. T., and Reeves A. A. , Science (New York, N.Y.), 1988 Mar 18, Volume 239, Issue 4846, p.1416-8, (1988) Abstract
An integrative variant analysis suite for whole exome next-generation sequencing data., Challis, Danny, Yu Jin, Evani Uday S., Jackson Andrew R., Paithankar Sameer, Coarfa Cristian, Milosavljevic Aleksandar, Gibbs Richard A., and Yu Fuli , BMC bioinformatics, 2012, Volume 13, p.8, (2012) Abstract
The distribution and mutagenesis of short coding INDELs from 1,128 whole exomes., Challis, Danny, Antunes Lilian, Garrison Erik, Banks Eric, Evani Uday S., Muzny Donna, Poplin Ryan, Gibbs Richard A., Marth Gabor, and Yu Fuli , BMC genomics, 2015 Feb 28, Volume 16, Issue 1, p.143, (2015) 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
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling., Chaki, Moumita, Airik Rannar, Ghosh Amiya K., Giles Rachel H., Chen Rui, Slaats Gisela G., Wang Hui, Hurd Toby W., Zhou Weibin, Cluckey Andrew, et al. , Cell, 2012 Aug 3, Volume 150, Issue 3, p.533-48, (2012) Abstract
Genomics. Genome project standards in a new era of sequencing., Chain, P. S. G., Grafham D. V., Fulton R. S., Fitzgerald M. G., Hostetler J., Muzny D., Ali J., Birren B., Bruce D. C., Buhay C., et al. , Science (New York, N.Y.), 2009 Oct 9, Volume 326, Issue 5950, p.236-7, (2009)
Finishing a whole-genome shotgun: release 3 of the Drosophila melanogaster euchromatic genome sequence., Celniker, Susan E., Wheeler David A., Kronmiller Brent, Carlson Joseph W., Halpern Aaron, Patel Sandeep, Adams Mark, Champe Mark, Dugan Shannon P., Frise Erwin, et al. , Genome biology, 2002, Volume 3, Issue 12, p.RESEARCH0079, (2002) Abstract
Whole genome sequences of three Treponema pallidum ssp. pertenue strains: yaws and syphilis treponemes differ in less than 0.2% of the genome sequence., Cejková, Darina, Zobaníková Marie, Chen Lei, Pospíšilová Petra, Strouhal Michal, Qin Xiang, Mikalová Lenka, Norris Steven J., Muzny Donna M., Gibbs Richard A., et al. , PLoS neglected tropical diseases, 2012 Jan, Volume 6, Issue 1, p.e1471, (2012) Abstract
Diagnosis of human heritable defects by recombinant DNA methods., Caskey, C. T., Gibbs R. A., Witkowski J. A., and Hejtmancik J. F. , Philosophical transactions of the Royal Society of London. Series B, Biological sciences, 1988 Jun 15, Volume 319, Issue 1194, p.353-60, (1988) Abstract
Replicative mechanisms for CNV formation are error prone., Carvalho, Claudia M. B., Pehlivan Davut, Ramocki Melissa B., Fang Ping, Alleva Benjamin, Franco Luis M., Belmont John W., Hastings P. J., and Lupski James R. , Nature genetics, 2013 Nov, Volume 45, Issue 11, p.1319-26, (2013) Abstract
Gibbon genome and the fast karyotype evolution of small apes., Carbone, Lucia, Harris Alan R., Gnerre Sante, Veeramah Krishna R., Lorente-Galdos Belen, Huddleston John, Meyer Thomas J., Herrero Javier, Roos Christian, Aken Bronwen, et al. , Nature, 2014 Sep 11, Volume 513, Issue 7517, p.195-201, (2014) Abstract
Integrated genomic analyses of ovarian carcinoma., , Nature, 2011 Jun 30, Volume 474, Issue 7353, p.609-15, (2011) Abstract
The Cancer Genome Atlas Pan-Cancer analysis project., Chang, Kyle, Creighton Chad J., Davis Caleb F., Donehower Lawrence, Drummond Jennifer, Wheeler David, Ally Adrian, Balasundaram Miruna, Birol Inanc, Butterfield Yaron S. N., et al. , Nature genetics, 2013 Sep 26, Volume 45, Issue 10, p.1113-20, (2013)
The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms., Campeau, Philippe M., Lu James T., Dawson Brian C., Fokkema Ivo F. A. C., Robertson Stephen P., Gibbs Richard A., and Lee Brendan H. , Human mutation, 2012 Nov, Volume 33, Issue 11, p.1520-5, (2012) Abstract


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