Búsqueda | Biblioteca Virtual en Salud Odontología. Uruguay

1.

Exome sequencing and characterization of 49,960 individuals in the UK Biobank.

Van Hout, Cristopher V; Tachmazidou, Ioanna; Backman, Joshua D; Hoffman, Joshua D; Liu, Daren; Pandey, Ashutosh K; Gonzaga-Jauregui, Claudia; Khalid, Shareef; Ye, Bin; Banerjee, Nilanjana; Li, Alexander H; O'Dushlaine, Colm; Marcketta, Anthony; Staples, Jeffrey; Schurmann, Claudia; Hawes, Alicia; Maxwell, Evan; Barnard, Leland; Lopez, Alexander; Penn, John; Habegger, Lukas; Blumenfeld, Andrew L; Bai, Xiaodong; O'Keeffe, Sean; Yadav, Ashish; Praveen, Kavita; Jones, Marcus; Salerno, William J; Chung, Wendy K; Surakka, Ida; Willer, Cristen J; Hveem, Kristian; Leader, Joseph B; Carey, David J; Ledbetter, David H; Cardon, Lon; Yancopoulos, George D; Economides, Aris; Coppola, Giovanni; Shuldiner, Alan R; Balasubramanian, Suganthi; Cantor, Michael; Nelson, Matthew R; Whittaker, John; Reid, Jeffrey G; Marchini, Jonathan; Overton, John D; Scott, Robert A; Abecasis, Gonçalo R; Yerges-Armstrong, Laura.

Nature ; 586(7831): 749-756, 2020 10.

Artículo en Inglés | MEDLINE | ID: mdl-33087929

2.

Precision medicine, genomics and drug discovery.

Cardon, Lon R; Harris, Tim.

Hum Mol Genet ; 25(R2): R166-R172, 2016 Oct 01.

Artículo en Inglés | MEDLINE | ID: mdl-27538422

3.

Characterization of ADME gene variation in 21 populations by exome sequencing.

Hovelson, Daniel H; Xue, Zhengyu; Zawistowski, Matthew; Ehm, Margaret G; Harris, Elizabeth C; Stocker, Sophie L; Gross, Annette S; Jang, In-Jin; Ieiri, Ichiro; Lee, Jong-Eun; Cardon, Lon R; Chissoe, Stephanie L; Abecasis, Gonçalo; Nelson, Matthew R.

Pharmacogenet Genomics ; 27(3): 89-100, 2017 03.

Artículo en Inglés | MEDLINE | ID: mdl-27984508

4.

Thousands of chemical starting points for antimalarial lead identification.

Gamo, Francisco-Javier; Sanz, Laura M; Vidal, Jaume; de Cozar, Cristina; Alvarez, Emilio; Lavandera, Jose-Luis; Vanderwall, Dana E; Green, Darren V S; Kumar, Vinod; Hasan, Samiul; Brown, James R; Peishoff, Catherine E; Cardon, Lon R; Garcia-Bustos, Jose F.

Nature ; 465(7296): 305-10, 2010 May 20.

Artículo en Inglés | MEDLINE | ID: mdl-20485427

5.

A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21.

van Heel, David A; Franke, Lude; Hunt, Karen A; Gwilliam, Rhian; Zhernakova, Alexandra; Inouye, Mike; Wapenaar, Martin C; Barnardo, Martin C N M; Bethel, Graeme; Holmes, Geoffrey K T; Feighery, Con; Jewell, Derek; Kelleher, Dermot; Kumar, Parveen; Travis, Simon; Walters, Julian R F; Sanders, David S; Howdle, Peter; Swift, Jill; Playford, Raymond J; McLaren, William M; Mearin, M Luisa; Mulder, Chris J; McManus, Ross; McGinnis, Ralph; Cardon, Lon R; Deloukas, Panos; Wijmenga, Cisca.

Nat Genet ; 39(7): 827-9, 2007 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-17558408

6.

Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility.

Parkes, Miles; Barrett, Jeffrey C; Prescott, Natalie J; Tremelling, Mark; Anderson, Carl A; Fisher, Sheila A; Roberts, Roland G; Nimmo, Elaine R; Cummings, Fraser R; Soars, Dianne; Drummond, Hazel; Lees, Charlie W; Khawaja, Saud A; Bagnall, Richard; Burke, Denis A; Todhunter, Catherine E; Ahmad, Tariq; Onnie, Clive M; McArdle, Wendy; Strachan, David; Bethel, Graeme; Bryan, Claire; Lewis, Cathryn M; Deloukas, Panos; Forbes, Alastair; Sanderson, Jeremy; Jewell, Derek P; Satsangi, Jack; Mansfield, John C; Cardon, Lon; Mathew, Christopher G.

Nat Genet ; 39(7): 830-2, 2007 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-17554261

7.

Finding the missing heritability of complex diseases.

Manolio, Teri A; Collins, Francis S; Cox, Nancy J; Goldstein, David B; Hindorff, Lucia A; Hunter, David J; McCarthy, Mark I; Ramos, Erin M; Cardon, Lon R; Chakravarti, Aravinda; Cho, Judy H; Guttmacher, Alan E; Kong, Augustine; Kruglyak, Leonid; Mardis, Elaine; Rotimi, Charles N; Slatkin, Montgomery; Valle, David; Whittemore, Alice S; Boehnke, Michael; Clark, Andrew G; Eichler, Evan E; Gibson, Greg; Haines, Jonathan L; Mackay, Trudy F C; McCarroll, Steven A; Visscher, Peter M.

Nature ; 461(7265): 747-53, 2009 Oct 08.

Artículo en Inglés | MEDLINE | ID: mdl-19812666

8.

Evaluating coverage of genome-wide association studies.

Barrett, Jeffrey C; Cardon, Lon R.

Nat Genet ; 38(6): 659-62, 2006 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-16715099

9.

Genome-wide association studies for complex traits: consensus, uncertainty and challenges.

McCarthy, Mark I; Abecasis, Gonçalo R; Cardon, Lon R; Goldstein, David B; Little, Julian; Ioannidis, John P A; Hirschhorn, Joel N.

Nat Rev Genet ; 9(5): 356-69, 2008 May.

Artículo en Inglés | MEDLINE | ID: mdl-18398418

10.

Genome-wide strategies for detecting multiple loci that influence complex diseases.

Marchini, Jonathan; Donnelly, Peter; Cardon, Lon R.

Nat Genet ; 37(4): 413-7, 2005 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-15793588

11.

An evaluation of HapMap sample size and tagging SNP performance in large-scale empirical and simulated data sets.

Zeggini, Eleftheria; Rayner, William; Morris, Andrew P; Hattersley, Andrew T; Walker, Mark; Hitman, Graham A; Deloukas, Panos; Cardon, Lon R; McCarthy, Mark I.

Nat Genet ; 37(12): 1320-2, 2005 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-16258542

12.

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees.

Abecasis, Gonçalo R; Cherny, Stacey S; Cookson, William O; Cardon, Lon R.

Nat Genet ; 30(1): 97-101, 2002 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-11731797

13.

The effects of human population structure on large genetic association studies.

Marchini, Jonathan; Cardon, Lon R; Phillips, Michael S; Donnelly, Peter.

Nat Genet ; 36(5): 512-7, 2004 May.

Artículo en Inglés | MEDLINE | ID: mdl-15052271

14.

Independent genome-wide scans identify a chromosome 18 quantitative-trait locus influencing dyslexia.

Fisher, Simon E; Francks, Clyde; Marlow, Angela J; MacPhie, I Laurence; Newbury, Dianne F; Cardon, Lon R; Ishikawa-Brush, Yumiko; Richardson, Alex J; Talcott, Joel B; Gayán, Javier; Olson, Richard K; Pennington, Bruce F; Smith, Shelley D; DeFries, John C; Stein, John F; Monaco, Anthony P.

Nat Genet ; 30(1): 86-91, 2002 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-11743577

15.

Positional cloning of a quantitative trait locus on chromosome 13q14 that influences immunoglobulin E levels and asthma.

Zhang, Youming; Leaves, Nicholas I; Anderson, Gavin G; Ponting, Chris P; Broxholme, John; Holt, Richard; Edser, Pauline; Bhattacharyya, Sumit; Dunham, Andy; Adcock, Ian M; Pulleyn, Louise; Barnes, Peter J; Harper, John I; Abecasis, Gonçalo; Cardon, Lon; White, Melanie; Burton, John; Matthews, Lucy; Mott, Richard; Ross, Mark; Cox, Roger; Moffatt, Miriam F; Cookson, William O C M.

Nat Genet ; 34(2): 181-6, 2003 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-12754510

16.

Deep sequencing of the LRRK2 gene in 14,002 individuals reveals evidence of purifying selection and independent origin of the p.Arg1628Pro mutation in Europe.

Rubio, Justin P; Topp, Simon; Warren, Liling; St Jean, Pamela L; Wegmann, Daniel; Kessner, Darren; Novembre, John; Shen, Judong; Fraser, Dana; Aponte, Jennifer; Nangle, Keith; Cardon, Lon R; Ehm, Margaret G; Chissoe, Stephanie L; Whittaker, John C; Nelson, Matthew R; Mooser, Vincent E.

Hum Mutat ; 33(7): 1087-98, 2012 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-22415848

17.

Functional epistasis on a common MHC haplotype associated with multiple sclerosis.

Gregersen, Jon W; Kranc, Kamil R; Ke, Xiayi; Svendsen, Pia; Madsen, Lars S; Thomsen, Allan Randrup; Cardon, Lon R; Bell, John I; Fugger, Lars.

Nature ; 443(7111): 574-7, 2006 Oct 05.

Artículo en Inglés | MEDLINE | ID: mdl-17006452

18.

Truncated robust distance for clinical laboratory safety data monitoring and assessment.

Lin, Xiwu; Parks, Daniel; Zhu, Lei; Curtis, Lloyd; Steel, Helen; Rut, Andrew; Mooser, Vincent; Cardon, Lon; Menius, Alan; Lee, Kwan.

J Biopharm Stat ; 22(6): 1174-92, 2012.

Artículo en Inglés | MEDLINE | ID: mdl-23075016

19.

Aspects of observing and claiming allele flips in association studies.

Clarke, Geraldine M; Cardon, Lon R.

Genet Epidemiol ; 34(3): 266-74, 2010 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-20013941

20.

Optimizing the power of genome-wide association studies by using publicly available reference samples to expand the control group.

Zhuang, Joanna J; Zondervan, Krina; Nyberg, Fredrik; Harbron, Chris; Jawaid, Ansar; Cardon, Lon R; Barratt, Bryan J; Morris, Andrew P.

Genet Epidemiol ; 34(4): 319-26, 2010 May.

Artículo en Inglés | MEDLINE | ID: mdl-20088020

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