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Structural forms of the human amylase locus and their relationships to SNPs, haplotypes and obesity.
Published in:
Nature Genetics, 2015, v. 47, n. 8, p. 921, doi. 10.1038/ng.3340
By:
- Usher, Christina L;
- Pato, Carlos N;
- Pato, Michele T;
- McCarthy, Mark I;
- Altshuler, David M;
- Handsaker, Robert E;
- McCarroll, Steven A;
- Esko, Tõnu;
- Tuke, Marcus A;
- Weedon, Michael N;
- Frayling, Timothy M;
- Hastie, Alex R;
- Cao, Han;
- Moon, Jennifer E;
- Hirschhorn, Joel N;
- Kashin, Seva;
- Fuchsberger, Christian;
- Boehnke, Michael;
- Metspalu, Andres
Publication type:
Article
De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot.
Published in:
Nature Genetics, 2009, v. 41, n. 8, p. 931, doi. 10.1038/ng.415
By:
- Greenway, Steven C.;
- Pereira, Alexandre C.;
- Lin, Jennifer C.;
- DePalma, Steven R.;
- Israel, Samuel J.;
- Mesquita, Sonia M.;
- Ergul, Emel;
- Conta, Jessie H.;
- Korn, Joshua M.;
- McCarroll, Steven A.;
- Gorham, Joshua M.;
- Gabriel, Stacey;
- Altshuler, David M.;
- Quintanilla-Dieck, Maria de Lourdes;
- Artunduaga, Maria Alexandra;
- Eavey, Roland D.;
- Plenge, Robert M.;
- Shadick, Nancy A.;
- Weinblatt, Michael E.;
- De Jager, Philip L.
Publication type:
Article
Copy-number variation and association studies of human disease.
Published in:
Nature Genetics, 2007, v. 39, p. S37, doi. 10.1038/ng2080
By:
- McCarroll, Steven A.;
- Altshuler, David M.
Publication type:
Article
Challenges and standards in integrating surveys of structural variation.
Published in:
Nature Genetics, 2007, v. 39, p. S7, doi. 10.1038/ng2093
By:
- Scherer, Stephen W.;
- Lee, Charles;
- Birney, Ewan;
- Altshuler, David M.;
- Eichler, Evan E.;
- Carter, Nigel P.;
- Hurles, Matthew E.;
- Feuk, Lars
Publication type:
Article
Common deletion polymorphisms in the human genome.
Published in:
Nature Genetics, 2006, v. 38, n. 1, p. 86, doi. 10.1038/ng1696
By:
- McCarroll, Steven A.;
- Hadnott, Tracy N.;
- Perry, George H.;
- Sabeti, Pardis C.;
- Zody, Michael C.;
- Barrett, Jeffrey C.;
- Dallaire, Stephanie;
- Gabriel, Stacey B.;
- Lee, Charles;
- Daly, Mark J.;
- Altshuler, David M.
Publication type:
Article
European admixture on the Micronesian island of Kosrae: lessons from complete genetic information.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 3, p. 309, doi. 10.1038/ejhg.2009.180
By:
- Bonnen, Penelope E.;
- Lowe, Jennifer K.;
- Altshuler, David M.;
- Breslow, Jan L.;
- Stoffel, Markus;
- Friedman, Jeffrey M.;
- Pe'er, Itsik
Publication type:
Article
Integrating common and rare genetic variation in diverse human populations.
Published in:
Nature, 2010, v. 467, n. 7311, p. 52, doi. 10.1038/nature09298
By:
- Altshuler, David M.;
- Gibbs, Richard A.;
- Peltonen, Leena;
- Dermitzakis, Emmanouil;
- Schaffner, Stephen F.;
- Yu, Fuli;
- Bonnen, Penelope E.;
- de Bakker, Paul I. W.;
- Deloukas, Panos;
- Gabriel, Stacey B.;
- Gwilliam, Rhian;
- Hunt, Sarah;
- Inouye, Michael;
- Jia, Xiaoming;
- Palotie, Aarno;
- Parkin, Melissa;
- Whittaker, Pamela;
- Chang, Kyle;
- Hawes, Alicia;
- Lewis, Lora R.
Publication type:
Article
Prospective study of the association between the proline to alanine codon 12 polymorphism in the PPARgamma gene and type 2 diabetes.
Published in:
2003
By:
- Memisoglu, Asli;
- Hu, Frank B.;
- Hankinson, Susan E.;
- Liu, Simin;
- Meigs, James B.;
- Altshuler, David M.;
- Hunter, David J.;
- Manson, Joann E.
Publication type:
journal article
Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.
Published in:
Science Translational Medicine, 2015, v. 7, n. 270, p. 1, doi. 10.1126/scitranslmed.3010134
By:
- Roberts, Angharad M.;
- Ware, James S.;
- Herman, Daniel S.;
- Schafer, Sebastian;
- Baksi, John;
- Bick, Alexander G.;
- Buchan, Rachel J.;
- Walsh, Roddy;
- John, Shibu;
- Wilkinson, Samuel;
- Mazzarotto, Francesco;
- Felkin, Leanne E.;
- Gong, Sungsam;
- MacArthur, Jacqueline A. L.;
- Cunningham, Fiona;
- Flannick, Jason;
- Gabriel, Stacey B.;
- Altshuler, David M.;
- Macdonald, Peter S.;
- Heinig, Matthias
Publication type:
Article
An integrated map of genetic variation from 1,092 human genomes.
Published in:
Nature, 2012, v. 491, n. 7422, p. 56, doi. 10.1038/nature11632
By:
- McVean, Gil A.;
- Altshuler (Co-Chair), David M.;
- Durbin (Co-Chair), Richard M.;
- Abecasis, Gonçalo R.;
- Bentley, David R.;
- Chakravarti, Aravinda;
- Clark, Andrew G.;
- Donnelly, Peter;
- Eichler, Evan E.;
- Flicek, Paul;
- Gabriel, Stacey B.;
- Gibbs, Richard A.;
- Green, Eric D.;
- Hurles, Matthew E.;
- Knoppers, Bartha M.;
- Korbel, Jan O.;
- Lander, Eric S.;
- Lee, Charles;
- Lehrach, Hans;
- Mardis, Elaine R.
Publication type:
Article
A null mutation in does not ANGPTL8 associate with either plasma glucose or type 2 diabetes in humans.
Published in:
BMC Endocrine Disorders, 2016, v. 16, p. 1, doi. 10.1186/s12902-016-0088-8
By:
- Clapham, Katharine R.;
- Chu, Audrey Y.;
- Wessel, Jennifer;
- Natarajan, Pradeep;
- Flannick, Jason;
- Rivas, Manuel A.;
- Sartori, Samantha;
- Mehran, Roxana;
- Baber, Usman;
- Fuster, Valentin;
- Scott, Robert A.;
- Rader, Daniel J.;
- Boehnke, Michael;
- McCarthy, Mark I.;
- Altshuler, David M.;
- Kathiresan, Sekar;
- Peloso, Gina M.
Publication type:
Article
Increased power of mixed models facilitates association mapping of 10 loci for metabolic traits in an isolated population.
Published in:
Human Molecular Genetics, 2011, v. 20, n. 4, p. 827, doi. 10.1093/hmg/ddq510
By:
- Kenny, Eimear E.;
- Kim, Minseung;
- Gusev, Alexander;
- Lowe, Jennifer K.;
- Salit, Jacqueline;
- Smith, J. Gustav;
- Kovvali, Sirisha;
- Kang, Hyun Min;
- Newton-Cheh, Christopher;
- Daly, Mark J.;
- Stoffel, Markus;
- Altshuler, David M.;
- Friedman, Jeffrey M.;
- Eskin, Eleazar;
- Breslow, Jan L.;
- Pe'er, Itsik
Publication type:
Article

Found: 12