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Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy., Gonzaga-Jauregui, Claudia, Harel Tamar, Gambin Tomasz, Kousi Maria, Griffin Laurie B., Francescatto Ludmila, Ozes Burcak, Karaca Ender, Jhangiani Shalini N., Bainbridge Matthew N., et al. , Cell reports, 2015 Aug 18, Volume 12, Issue 7, p.1169-83, (2015) Abstract
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 sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction., Do, Ron, Stitziel Nathan O., Won Hong-Hee, Jørgensen Anders Berg, Duga Stefano, Angelica Merlini Pier, Kiezun Adam, Farrall Martin, Goel Anuj, Zuk Or, et al. , Nature, 2015 Feb 5, Volume 518, Issue 7537, p.102-6, (2015) Abstract
Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology., Craigen, William J., Graham Brett H., Wong Lee-Jun, Scaglia Fernando, Lewis Richard Alan, and Bonnen Penelope E. , BMC medical genetics, 2013, Volume 14, p.83, (2013) Abstract
Exome sequencing of head and neck squamous cell carcinoma reveals inactivating mutations in NOTCH1., Agrawal, Nishant, Frederick Mitchell J., Pickering Curtis R., Bettegowda Chetan, Chang Kyle, Li Ryan J., Fakhry Carole, Xie Tong-Xin, Zhang Jiexin, Wang Jing, et al. , Science (New York, N.Y.), 2011 Aug 26, Volume 333, Issue 6046, p.1154-7, (2011) Abstract
Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy., Klassen, Tara, Davis Caleb F., Goldman Alica, Burgess Dan, Chen Tim, Wheeler David, McPherson John, Bourquin Traci, Lewis Lora, Villasana Donna, et al. , Cell, 2011 Jun 24, Volume 145, Issue 7, p.1036-48, (2011) Abstract
Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy, Lupski, James R., Gonzaga-Jauregui Claudia, Yang Yaping, Bainbridge Matthew N., Jhangiani Shalini, Buhay Christian J., Kovar Christie L., Wang Min, Hawes Alicia C., Reid Jeffrey G., et al. , Genome Medicine, 2013, Volume 5, Issue 6, p.57, (2013)
Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis., Pehlivan, Davut, Akdemir Zeynep Coban, Karaca Ender, Bayram Yavuz, Jhangiani Shalini, Yildiz Edibe Pembegul, Muzny Donna, Uluc Kayihan, Gibbs Richard A., Elcioglu Nursel, et al. , Human genetics, 2015 Apr 17, (2015) Abstract
Exon sequencing of PAX3 and T (brachyury) in cases with spina bifida., Agopian, A. J., Bhalla Angela D., Boerwinkle Eric, Finnell Richard H., Grove Megan L., Hixson James E., Shimmin Lawrence C., Sewda Anshuman, Stuart Colin, Zhong Yu, et al. , Birth defects research. Part A, Clinical and molecular teratology, 2013 Sep, Volume 97, Issue 9, p.597-601, (2013) Abstract
Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D., Okamoto, Yuji, Goksungur Meryem Tuba, Pehlivan Davut, Beck Christine R., Gonzaga-Jauregui Claudia, Muzny Donna M., Atik Mehmed M., Carvalho Claudia M. B., Matur Zeliha, Bayraktar Serife, et al. , Genetics in medicine : official journal of the American College of Medical Genetics, 2013 Oct 17, (2013) Abstract
Exonuclease mutations In DNA Polymerase Epsilon reveal replication strand specific mutation patterns and human origins of replication., Shinbrot, Eve, Henninger Erin E., Weinhold Nils, Covington Kyle R., Göksenin Yasemin A., Schultz Nikolaus, Chao Hsu, Doddapaneni Harshavardhan, Muzny Donna M., Gibbs Richard A., et al. , Genome research, 2014 Sep 16, (2014) Abstract
Expression and regulation of kainate and AMPA receptors in the rat neural tube., Scherer, S. E., and Gallo V. , Journal of neuroscience research, 1998 May 1, Volume 52, Issue 3, p.356-68, (1998) Abstract
Expression of a beta-glucosidase gene results in increased accumulation of salicylic acid in transgenic Nicotiana tabacum cv. Xanthi-nc NN genotype., Yao, Jiqiang, Huot Bethany, Foune Catherine, Doddapaneni Harshavardhan, and Enyedi Alexander , Plant cell reports, 2007 Mar, Volume 26, Issue 3, p.291-301, (2007) Abstract
Expression of human immunodeficiency virus type 1 reverse transcriptase in trans during virion release and after infection., Ansari-Lari, M. A., and Gibbs R. A. , Journal of virology, 1996 Jun, Volume 70, Issue 6, p.3870-5, (1996) 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
Expression of the platelet-derived growth factor beta receptor during organogenesis and tissue differentiation in the mouse embryo., Shinbrot, E., Peters K. G., and Williams L. T. , Developmental dynamics : an official publication of the American Association of Anatomists, 1994 Mar, Volume 199, Issue 3, p.169-75, (1994) Abstract
Expression profiling using human tissues in combination with RNA amplification and microarray analysis: assessment of Langerhans cell histiocytosis., McClain, K. L., Cai Y. - H., Hicks J., Peterson L. E., Yan X. - T., Che S., and Ginsberg S. D. , Amino acids, 2005 May, Volume 28, Issue 3, p.279-90, (2005) Abstract
The extent of genetic variation in the CCR5 gene., Ansari-Lari, M. A., Liu X. M., Metzker M. L., Rut A. R., and Gibbs R. A. , Nature genetics, 1997 Jul, Volume 16, Issue 3, p.221-2, (1997)
Factor XIIIA Val34Leu polymorphism does not predict risk of coronary heart disease: The Atherosclerosis Risk in Communities (ARIC) Study., Aleksic, Nena, Ahn Chul, Wang Yao-Wei, Juneja Harinder, Folsom Aaron R., Boerwinkle Eric, and Wu Kenneth K. , Arteriosclerosis, thrombosis, and vascular biology, 2002 Feb 1, Volume 22, Issue 2, p.348-52, (2002) Abstract
Factors associated with blood lead concentrations of children in Jamaica., Rahbar, Mohammad H., Samms-Vaughan Maureen, Dickerson Aisha S., Loveland Katherine A., Ardjomand-Hessabi Manouchehr, Bressler Jan, Shakespeare-Pellington Sydonnie, Grove Megan L., and Boerwinkle Eric , Journal of environmental science and health. Part A, Toxic/hazardous substances & environmental engineering, 2015 May 12, Volume 50, Issue 6, p.529-39, (2015) Abstract
Familial thoracic aortic aneurysms and dissections: identification of a novel locus for stable aneurysms with a low risk for progression to aortic dissection., Guo, Dong-Chuan, Regalado Ellen S., Minn Charles, Tran-Fadulu Van, Coney Joshua, Cao Jiumei, Wang Min, Yu Robert K., Estrera Anthony L., Safi Hazim J., et al. , Circulation. Cardiovascular genetics, 2011 Feb, Volume 4, Issue 1, p.36-42, (2011) Abstract
Family-based association study of matrix metalloproteinase-3 and -9 haplotypes with susceptibility to ischemic white matter injury., Fornage, Myriam, Mosley Thomas H., Jack Clifford R., de Andrade Mariza, Kardia Sharon L. R., Boerwinkle Eric, and Turner Stephen T. , Human genetics, 2007 Jan, Volume 120, Issue 5, p.671-80, (2007) Abstract
Fat mass and obesity gene and cognitive decline: the Atherosclerosis Risk in Communities Study., Bressler, Jan, Fornage Myriam, Demerath Ellen W., Knopman David S., Monda Keri L., North Kari E., Penman Alan, Mosley Thomas H., and Boerwinkle Eric , Neurology, 2013 Jan 1, Volume 80, Issue 1, p.92-9, (2013) Abstract
FBN1 contributing to familial congenital diaphragmatic hernia., Beck, Tyler F., Campeau Philippe M., Jhangiani Shalini N., Gambin Tomasz, Li Alexander H., Abo-Zahrah Reem, Jordan Valerie K., Hernandez-Garcia Andres, Wiszniewski Wojciech K., Muzny Donna, et al. , American journal of medical genetics. Part A, 2015 Apr, Volume 167, Issue 4, p.831-6, (2015) Abstract
Fidelity of targeted recombination in human fibroblasts and murine embryonic stem cells., Zheng, H., Hasty P., Brenneman M. A., Grompe M., Gibbs R. A., Wilson J. H., and Bradley A. , Proceedings of the National Academy of Sciences of the United States of America, 1991 Sep 15, Volume 88, Issue 18, p.8067-71, (1991) Abstract

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