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Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI., Bayram, Yavuz, Aydin Hatip, Gambin Tomasz, Akdemir Zeynep Coban, Atik Mehmed M., Karaca Ender, Karaman Ali, Pehlivan Davut, Jhangiani Shalini N., Gibbs Richard A., et al. , American journal of medical genetics. Part A, 2015 Apr 6, (2015) 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
Evolutionary and biomedical insights from the rhesus macaque genome., Gibbs, Richard A., Rogers Jeffrey, Katze Michael G., Bumgarner Roger, Weinstock George M., Mardis Elaine R., Remington Karin A., Strausberg Robert L., Venter Craig J., Wilson Richard K., et al. , Science (New York, N.Y.), 2007 Apr 13, Volume 316, Issue 5822, p.222-34, (2007) Abstract
Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes., Siepel, Adam, Bejerano Gill, Pedersen Jakob S., Hinrichs Angie S., Hou Minmei, Rosenbloom Kate, Clawson Hiram, Spieth John, Hillier Ladeana W., Richards Stephen, et al. , Genome research, 2005 Aug, Volume 15, Issue 8, p.1034-50, (2005) Abstract
Evolution tunes the excitability of individual neurons., Salkoff, L., Butler A., Fawcett G., Kunkel M., McArdle C., Paz-y-Mino G., Nonet M., Walton N., Wang Z. W., Yuan A., et al. , Neuroscience, 2001, Volume 103, Issue 4, p.853-9, (2001) Abstract
Evidence that multiple genetic variants of MC4R play a functional role in the regulation of energy expenditure and appetite in Hispanic children., Cole, Shelley A., Butte Nancy F., Voruganti Saroja V., Cai Guowen, Haack Karin, Kent Jack W., Blangero John, Comuzzie Anthony G., McPherson John D., and Gibbs Richard A. , The American journal of clinical nutrition, 2010 Jan, Volume 91, Issue 1, p.191-9, (2010) Abstract
Evidence for alternative candidate genes near RB1 involved in clonal expansion of in situ urothelial neoplasia., Kim, Mi-Sook, Jeong Joon, Majewski Tadeusz, Kram Andrzej, Yoon Dong-Sup, Zhang Ruo-Dan, Li Jun-Zhi, Ptaszynski Konrad, Kuang Tang C., Zhou Jain-Hua, et al. , Laboratory investigation; a journal of technical methods and pathology, 2006 Feb, Volume 86, Issue 2, p.175-90, (2006) Abstract
An evaluation of the draft human genome sequence., Katsanis, N., Worley K. C., and Lupski J. R. , Nature genetics, 2001 Sep, Volume 29, Issue 1, p.88-91, (2001) Abstract
Evaluating the context-dependent effect of family history of stroke in a genome scan for hypertension., Morrison, Alanna C., Brown Andrew, Kardia Sharon L. R., Turner Stephen T., and Boerwinkle Eric , Stroke; a journal of cerebral circulation, 2003 May, Volume 34, Issue 5, p.1170-5, (2003) Abstract
ESR1 polymorphism is associated with plasma lipid and apolipoprotein levels in Caucasians of the Rochester Family Heart Study., Klos, Kathy L. E., Boerwinkle Eric, Ferrell Robert E., Turner Stephen T., and Morrison Alanna C. , Journal of lipid research, 2008 Aug, Volume 49, Issue 8, p.1701-6, (2008) Abstract
An Enterococcus faecium secreted antigen, SagA, exhibits broad-spectrum binding to extracellular matrix proteins and appears essential for E. faecium growth., Teng, Fang, Kawalec Magdalena, Weinstock George M., Hryniewicz Waleria, and Murray Barbara E. , Infection and immunity, 2003 Sep, Volume 71, Issue 9, p.5033-41, (2003) Abstract
EGFR-T790M is a rare lung cancer susceptibility allele with enhanced kinase activity., Vikis, Haris, Sato Mitsuo, James Michael, Wang Daolong, Wang Yian, Wang Min, Jia Dongmei, Liu Yan, Bailey-Wilson Joan E., Amos Christopher I., et al. , Cancer research, 2007 May 15, Volume 67, Issue 10, p.4665-70, (2007) Abstract
D
DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome., White, Janson, Mazzeu Juliana F., Hoischen Alexander, Jhangiani Shalini N., Gambin Tomasz, Alcino Michele Calijorne, Penney Samantha, Saraiva Jorge M., Hove Hanne, Skovby Flemming, et al. , American journal of human genetics, 2015 Mar 25, (2015) Abstract
A Drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases., Yamamoto, Shinya, Jaiswal Manish, Charng Wu-Lin, Gambin Tomasz, Karaca Ender, Mirzaa Ghayda, Wiszniewski Wojciech, Sandoval Hector, Haelterman Nele A., Xiong Bo, et al. , Cell, 2014 Sep 25, Volume 159, Issue 1, p.200-14, (2014) Abstract
Drosophila eyes absent is required for normal cone and pigment cell development., Karandikar, Umesh C., Jin Meng, Jusiak Barbara, Kwak SuJin, Chen Rui, and Mardon Graeme , PloS one, 2014, Volume 9, Issue 7, p.e102143, (2014) Abstract
Do echinoderm genomes measure up?, Cameron, Andrew R., Kudtarkar Parul, Gordon Susan M., Worley Kim C., and Gibbs Richard A. , Marine genomics, 2015 Feb 17, (2015) Abstract
The DNA sequence, annotation and analysis of human chromosome 3., Muzny, Donna M., Scherer Steven E., Kaul Rajinder, Wang Jing, Yu Jun, Sudbrak Ralf, Buhay Christian J., Chen Rui, Cree Andrew, Ding Yan, et al. , Nature, 2006 Apr 27, Volume 440, Issue 7088, p.1194-8, (2006) Abstract
The DNA sequence of the human X chromosome., Ross, Mark T., Grafham Darren V., Coffey Alison J., Scherer Steven, McLay Kirsten, Muzny Donna, Platzer Matthias, Howell Gareth R., Burrows Christine, Bird Christine P., et al. , Nature, 2005 Mar 17, Volume 434, Issue 7031, p.325-37, (2005) Abstract
The DNA sequence of human chromosome 7., Hillier, Ladeana W., Fulton Robert S., Fulton Lucinda A., Graves Tina A., Pepin Kymberlie H., Wagner-McPherson Caryn, Layman Dan, Maas Jason, Jaeger Sara, Walker Rebecca, et al. , Nature, 2003 Jul 10, Volume 424, Issue 6945, p.157-64, (2003) Abstract
Dissociation between APOC3 variants, hepatic triglyceride content and insulin resistance., Kozlitina, Julia, Boerwinkle Eric, Cohen Jonathan C., and Hobbs Helen H. , Hepatology (Baltimore, Md.), 2011 Feb, Volume 53, Issue 2, p.467-74, (2011) Abstract
Discovery of novel microRNAs in female reproductive tract using next generation sequencing., Creighton, Chad J., Benham Ashley L., Zhu Huifeng, Khan Mahjabeen F., Reid Jeffrey G., Nagaraja Ankur K., Fountain Michael D., Dziadek Olivia, Han Derek, Ma Lang, et al. , PloS one, 2010, Volume 5, Issue 3, p.e9637, (2010) Abstract
Direct regulation of GTP homeostasis by (p)ppGpp: a critical component of viability and stress resistance., Kriel, Allison, Bittner Alycia N., Kim Sok Ho, Liu Kuanqing, Tehranchi Ashley K., Zou Winnie Y., Rendon Samantha, Chen Rui, Tu Benjamin P., and Wang Jue D. , Molecular cell, 2012 Oct 26, Volume 48, Issue 2, p.231-41, (2012) Abstract
Differentially expressed nucleolar TGF-beta1 target (DENTT) in mouse development., Ozbun, Laurent L., Martínez Alfredo, Angdisen Jerry, Umphress Sarah, Kang Yang, Wang Min, You Ming, and Jakowlew Sonia B. , Developmental dynamics : an official publication of the American Association of Anatomists, 2003 Mar, Volume 226, Issue 3, p.491-511, (2003) Abstract
Diet-dependent genetic and genomic imprinting effects on obesity in mice., Cheverud, James M., Lawson Heather A., Fawcett Gloria L., Wang Bing, Pletscher Susan L., R Fox Ashley, Maxwell Taylor J., Ehrich Thomas H., Kenney-Hunt Jane P., Wolf Jason B., et al. , Obesity (Silver Spring, Md.), 2011 Jan, Volume 19, Issue 1, p.160-70, (2011) Abstract
Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy., Yang, Zhao, Bowles Neil E., Scherer Steven E., Taylor Michael D., Kearney Debra L., Ge Shuping, Nadvoretskiy Vyacheslav V., DeFreitas Gilberto, Carabello Blasé, Brandon Lois I., et al. , Circulation research, 2006 Sep 15, Volume 99, Issue 6, p.646-55, (2006) Abstract


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