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1-Alkyl-2-acetylglycerophosphocholine Esterase
Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks., Peloso, Gina M., Auer Paul L., Bis Joshua C., Voorman Arend, Morrison Alanna C., Stitziel Nathan O., Brody Jennifer A., Khetarpal Sumeet A., Crosby Jacy R., Fornage Myriam, et al. , American journal of human genetics, 2014 Feb 6, Volume 94, Issue 2, p.223-32, (2014) Abstract
3' Flanking Region
Haplotype structure, LD blocks, and uneven recombination within the LRP5 gene., Twells, Rebecca C. J., Mein Charles A., Phillips Michael S., Hess Fred J., Veijola Riitta, Gilbey Matthew, Bright Matthew, Metzker Michael, Lie Benedicte A., Kingsnorth Amanda, et al. , Genome research, 2003 May, Volume 13, Issue 5, p.845-55, (2003) Abstract
5' Flanking Region
Haplotype structure, LD blocks, and uneven recombination within the LRP5 gene., Twells, Rebecca C. J., Mein Charles A., Phillips Michael S., Hess Fred J., Veijola Riitta, Gilbey Matthew, Bright Matthew, Metzker Michael, Lie Benedicte A., Kingsnorth Amanda, et al. , Genome research, 2003 May, Volume 13, Issue 5, p.845-55, (2003) Abstract
5' Untranslated Regions
The DNA sequence and analysis of human chromosome 14., Heilig, Roland, Eckenberg Ralph, Petit Jean-Louis, Fonknechten Núria, Da Silva Corinne, Cattolico Laurence, Levy Michaël, Barbe Valérie, de Berardinis Véronique, Ureta-Vidal Abel, et al. , Nature, 2003 Feb 6, Volume 421, Issue 6923, p.601-7, (2003) Abstract
Abnormalities, Multiple
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 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
Access to Information
Prepublication data sharing., Birney, Ewan, Hudson Thomas J., Green Eric D., Gunter Chris, Eddy Sean, Rogers Jane, Harris Jennifer R., Ehrlich Dusko S., Apweiler Rolf, Austin Christopher P., et al. , Nature, 2009 Sep 10, Volume 461, Issue 7261, p.168-70, (2009) Abstract
Actins
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 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
Adaptation, Physiological
Genome sequence of the button mushroom Agaricus bisporus reveals mechanisms governing adaptation to a humic-rich ecological niche., Morin, Emmanuelle, Kohler Annegret, Baker Adam R., Foulongne-Oriol Marie, Lombard Vincent, Nagy Laszlo G., Ohm Robin A., Patyshakuliyeva Aleksandrina, Brun Annick, Aerts Andrea L., et al. , Proceedings of the National Academy of Sciences of the United States of America, 2012 Oct 23, Volume 109, Issue 43, p.17501-6, (2012) Abstract
Adaptor Proteins, Signal Transducing
SINE retrotransposons cause epigenetic reprogramming of adjacent gene promoters., Estécio, Marcos R. H., Gallegos Juan, Dekmezian Mhair, Lu Yue, Liang Shoudan, and Issa Jean-Pierre J. , Molecular cancer research : MCR, 2012 Oct, Volume 10, Issue 10, p.1332-42, (2012) Abstract
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies., Khanna, Hemant, Davis Erica E., Murga-Zamalloa Carlos A., Estrada-Cuzcano Alejandro, Lopez Irma, den Hollander Anneke I., Zonneveld Marijke N., Othman Mohammad I., Waseem Naushin, Chakarova Christina F., et al. , Nature genetics, 2009 Jun, Volume 41, Issue 6, p.739-45, (2009) Abstract
Adenoviridae
Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model., McIntyre, Jeremy C., Davis Erica E., Joiner Ariell, Williams Corey L., Tsai I-Chun, Jenkins Paul M., McEwen Dyke P., Zhang Lian, Escobado John, Thomas Sophie, et al. , Nature medicine, 2012 Sep, Volume 18, Issue 9, p.1423-8, (2012) Abstract
Adipose Tissue
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
Adiposity
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
Adolescent
The genetic basis of DOORS syndrome: an exome-sequencing study., Campeau, Philippe M., Kasperaviciute Dalia, Lu James T., Burrage Lindsay C., Kim Choel, Hori Mutsuki, Powell Berkley R., Stewart Fiona, Félix Têmis Maria, van den Ende Jenneke, et al. , Lancet neurology, 2014 Jan, Volume 13, Issue 1, p.44-58, (2014) Abstract
Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome., Bayram, Yavuz, Pehlivan Davut, Karaca Ender, Gambin Tomasz, Jhangiani Shalini N., Erdin Serkan, Gonzaga-Jauregui Claudia, Wiszniewski Wojciech, Muzny Donna, Elcioglu Nursel H., et al. , American journal of medical genetics. Part A, 2014 Sep, Volume 164A, Issue 9, p.2328-34, (2014) Abstract
Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype., Perrault, Isabelle, Estrada-Cuzcano Alejandro, Lopez Irma, Kohl Susanne, Li Shiqiang, Testa Francesco, Zekveld-Vroon Renate, Wang Xia, Pomares Esther, Andorf Jean, et al. , PloS one, 2013, Volume 8, Issue 1, p.e51622, (2013) Abstract
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
Adrenal Insufficiency
Yeast artificial chromosome cloning in the glycerol kinase and adrenal hypoplasia congenita region of Xp21., Worley, K. C., Ellison K. A., Zhang Y. H., Wang D. F., Mason J., Roth E. J., Adams V., Fogt D. D., Zhu X. M., and Towbin J. A. , Genomics, 1993 May, Volume 16, Issue 2, p.407-16, (1993) Abstract
Adult
Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks., Peloso, Gina M., Auer Paul L., Bis Joshua C., Voorman Arend, Morrison Alanna C., Stitziel Nathan O., Brody Jennifer A., Khetarpal Sumeet A., Crosby Jacy R., Fornage Myriam, et al. , American journal of human genetics, 2014 Feb 6, Volume 94, Issue 2, p.223-32, (2014) Abstract
Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels., Meyer, Tamra E., Verwoert Germaine C., Hwang Shih-Jen, Glazer Nicole L., Smith Albert V., van Rooij Frank J. A., Ehret Georg B., Boerwinkle Eric, Felix Janine F., Leak Tennille S., et al. , PLoS genetics, 2010 Aug, Volume 6, Issue 8, (2010) Abstract
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
Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections., Kuang, Shao-Qing, Guo Dong-Chuan, Prakash Siddharth K., McDonald Merry-Lynn N., Johnson Ralph J., Wang Min, Regalado Ellen S., Russell Ludivine, Cao Jiu-Mei, Kwartler Callie, et al. , PLoS genetics, 2011 Jun, Volume 7, Issue 6, p.e1002118, (2011) Abstract
Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype., Perrault, Isabelle, Estrada-Cuzcano Alejandro, Lopez Irma, Kohl Susanne, Li Shiqiang, Testa Francesco, Zekveld-Vroon Renate, Wang Xia, Pomares Esther, Andorf Jean, et al. , PloS one, 2013, Volume 8, Issue 1, p.e51622, (2013) Abstract


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