Biases and Reconciliation in Estimates of Linkage Disequilibrium in the Human Genome

Autor Pe’er, Itsik, Chretien, Yves R., de Bakker, Paul I. W., Barrett, Jeffrey C., Daly, Mark J., Altshuler, David M.
Vydáno 2006

European admixture on the Micronesian island of Kosrae: lessons from complete genetic information

Autor Bonnen, Penelope E, Lowe, Jennifer K, Altshuler, David M, Breslow, Jan L, Stoffel, Markus, Friedman, Jeffrey M, Pe'er, Itsik
Vydáno 2010

A novel polymorphism of the human CD40 receptor with enhanced function

Autor Peters, Anna L., Plenge, Robert M., Graham, Robert R., Altshuler, David M., Moser, Kathy L., Gaffney, Patrick M., Bishop, Gail A.
Vydáno 2008

Challenges and standards in integrating surveys of structural variation

Autor Scherer, Stephen W, Lee, Charles, Birney, Ewan, Altshuler, David M, Eichler, Evan E, Carter, Nigel P, Hurles, Matthew E, Feuk, Lars
Vydáno 2007

DASH: A Method for Identical-by-Descent Haplotype Mapping Uncovers Association with Recent Variation

Autor Gusev, Alexander, Kenny, Eimear E., Lowe, Jennifer K., Salit, Jaqueline, Saxena, Richa, Kathiresan, Sekar, Altshuler, David M., Friedman, Jeffrey M., Breslow, Jan L., Pe'er, Itsik
Vydáno 2011

Genome-wide association study of electrocardiographic conduction measures in an isolated founder population: Kosrae

Autor Smith, J. Gustav, Lowe, Jennifer K., Kovvali, Sirisha, Maller, Julian B., Salit, Jacqueline, Daly, Mark J., Stoffel, Markus, Altshuler, David M., Friedman, Jeffrey M., Breslow, Jan L., Newton-Cheh, Christopher
Vydáno 2009

A Novel Test for Recessive Contributions to Complex Diseases Implicates Bardet-Biedl Syndrome Gene BBS10 in Idiopathic Type 2 Diabetes and Obesity

Autor Lim, Elaine T., Liu, Yangfan P., Chan, Yingleong, Tiinamaija, Tuomi, Käräjämäki, AnnMari, Madsen, Erik, Altshuler, David M., Raychaudhuri, Soumya, Groop, Leif, Flannick, Jason, Hirschhorn, Joel N., Katsanis, Nicholas, Daly, Mark J.
Vydáno v Am J Hum Genet (2014)

Linkage Disequilibrium and Heritability of Copy-Number Polymorphisms within Duplicated Regions of the Human Genome

Autor Locke, Devin P. , Sharp, Andrew J. , McCarroll, Steven A. , McGrath, Sean D. , Newman, Tera L. , Cheng, Ze , Schwartz, Stuart , Albertson, Donna G. , Pinkel, Daniel , Altshuler, David M. , Eichler, Evan E. 
Vydáno 2006

Systematic haplotype analysis resolves a complex plasma plant sterol locus on the Micronesian Island of Kosrae

Autor Kenny, Eimear E., Gusev, Alexander, Riegel, Kaitlin, Lütjohann, Dieter, Lowe, Jennifer K., Salit, Jacqueline, Maller, Julian B., Stoffel, Markus, Daly, Mark J., Altshuler, David M., Friedman, Jeffrey M., Breslow, Jan L., Pe'er, Itsik, Sehayek, Ephraim
Vydáno 2009

Increased power of mixed models facilitates association mapping of 10 loci for metabolic traits in an isolated population

Autor 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
Vydáno 2011

A null mutation in ANGPTL8 does not associate with either plasma glucose or type 2 diabetes in humans

Autor 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.
Vydáno v BMC Endocr Disord (2016)

Increased Burden of Cardiovascular Disease in Carriers of APOL1 Genetic Variants

Autor Ito, Kaoru, Bick, Alexander G., Flannick, Jason, Friedman, David J., Genovese, Giulio, Parfenov, Michael G., DePalma, Steven R., Gupta, Namrata, Gabriel, Stacey B., Taylor, Herman A., Fox, Ervin R., Newton-Cheh, Christopher, Kathiresan, Sekar, Hirschhorn, Joel N., Altshuler, David M., Pollak, Martin R., Wilson, James G., Seidman, J. G., Seidman, Christine
Vydáno 2013

Structural forms of the human amylase locus and their relationships to SNPs, haplotypes, and obesity

Autor Usher, Christina L, Handsaker, Robert E, Esko, Tõnu, Tuke, Marcus A, Weedon, Michael N, Hastie, Alex R, Cao, Han, Moon, Jennifer E, Kashin, Seva, Fuchsberger, Christian, Metspalu, Andres, Pato, Carlos N, Pato, Michele T, McCarthy, Mark I, Boehnke, Michael, Altshuler, David M, Frayling, Timothy M, Hirschhorn, Joel N, McCarroll, Steven A
Vydáno v Nat Genet (2015)

Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans

Autor Kathiresan, Sekar, Melander, Olle, Guiducci, Candace, Surti, Aarti, Burtt, Noël P, Rieder, Mark J, Cooper, Gregory M, Roos, Charlotta, Voight, Benjamin F, Havulinna, Aki S, Wahlstrand, Björn, Hedner, Thomas, Corella, Dolores, Tai, E Shyong, Ordovas, Jose M, Berglund, Göran, Vartiainen, Erkki, Jousilahti, Pekka, Hedblad, Bo, Taskinen, Marja-Riitta, Newton-Cheh, Christopher, Salomaa, Veikko, Peltonen, Leena, Groop, Leif, Altshuler, David M, Orho-Melander, Marju
Vydáno 2008

Burden of Rare Sarcomere Gene Variants in the Framingham and Jackson Heart Study Cohorts

Autor Bick, Alexander G., Flannick, Jason, Ito, Kaoru, Cheng, Susan, Vasan, Ramachandran S., Parfenov, Michael G., Herman, Daniel S., DePalma, Steven R., Gupta, Namrata, Gabriel, Stacey B., Funke, Birgit H., Rehm, Heidi L., Benjamin, Emelia J., Aragam, Jayashri, Taylor, Herman A., Fox, Ervin R., Newton-Cheh, Christopher, Kathiresan, Sekar, O’Donnell, Christopher J., Wilson, James G., Altshuler, David M., Hirschhorn, Joel N., Seidman, J.G., Seidman, Christine
Vydáno 2012

Genome-Wide Association Studies in an Isolated Founder Population from the Pacific Island of Kosrae

Autor Lowe, Jennifer K., Maller, Julian B., Pe'er, Itsik, Neale, Benjamin M., Salit, Jacqueline, Kenny, Eimear E., Shea, Jessica L., Burkhardt, Ralph, Smith, J. Gustav, Ji, Weizhen, Noel, Martha, Foo, Jia Nee, Blundell, Maude L., Skilling, Vita, Garcia, Laura, Sullivan, Marcia L., Lee, Heather E., Labek, Anna, Ferdowsian, Hope, Auerbach, Steven B., Lifton, Richard P., Newton-Cheh, Christopher, Breslow, Jan L., Stoffel, Markus, Daly, Mark J., Altshuler, David M., Friedman, Jeffrey M.
Vydáno 2009

Type 2 diabetes variants disrupt function of SLC16A11 through two distinct mechanisms

Autor Rusu, Victor, Hoch, Eitan, Mercader, Josep M., Tenen, Danielle E., Gymrek, Melissa, Hartigan, Christina R., DeRan, Michael, von Grotthuss, Marcin, Fontanillas, Pierre, Spooner, Alexandra, Guzman, Gaelen, Deik, Amy A., Pierce, Kerry A., Dennis, Courtney, Clish, Clary B., Carr, Steven A., Wagner, Bridget K., Schenone, Monica, Ng, Maggie C.Y., Chen, Brian H., Centeno-Cruz, Federico, Zerrweck, Carlos, Orozco, Lorena, Altshuler, David M., Schreiber, Stuart L., Florez, Jose C., Jacobs, Suzanne B. R., Lander, Eric S.
Vydáno v Cell (2017)

Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders

Autor Lim, Elaine T., Raychaudhuri, Soumya, Sanders, Stephan J., Stevens, Christine, Sabo, Aniko, MacArthur, Daniel G., Neale, Benjamin M., Kirby, Andrew, Ruderfer, Douglas M., Fromer, Menachem, Lek, Monkol, Liu, Li, Flannick, Jason, Ripke, Stephan, Nagaswamy, Uma, Muzny, Donna, Reid, Jeffrey G., Hawes, Alicia, Newsham, Irene, Wu, Yuanqing, Lewis, Lora, Dinh, Huyen, Gross, Shannon, Wang, Li-San, Lin, Chiao-Feng, Valladares, Otto, Gabriel, Stacey B., dePristo, Mark, Altshuler, David M., Purcell, Shaun M., State, Matthew W., Boerwinkle, Eric, Buxbaum, Joseph D., Cook, Edwin H., Gibbs, Richard A., Schellenberg, Gerard D., Sutcliffe, James S., Devlin, Bernie, Roeder, Kathryn, Daly, Mark J.
Vydáno 2013

Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease

Autor 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, Keogh, Anne M., Hayward, Christopher S., Banner, Nicholas R., Pennell, Dudley J., O’Regan, Declan, San, Tan Ru, de Marvao, Antonio, Dawes, Timothy J. W., Gulati, Ankur, Birks, Emma J., Yacoub, Magdi H., Radke, Michael, Gotthardt, Michael, Wilson, James G., O’Donnell, Christopher J., Prasad, Sanjay K., Barton, Paul J.R., Fatkin, Diane, Hubner, Norbert, Seidman, J. G., Seidman, Christine E., Cook, Stuart A.
Vydáno v Sci Transl Med (2015)

Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population

Autor Lim, Elaine T., Würtz, Peter, Havulinna, Aki S., Palta, Priit, Tukiainen, Taru, Rehnström, Karola, Esko, Tõnu, Mägi, Reedik, Inouye, Michael, Lappalainen, Tuuli, Chan, Yingleong, Salem, Rany M., Lek, Monkol, Flannick, Jason, Sim, Xueling, Manning, Alisa, Ladenvall, Claes, Bumpstead, Suzannah, Hämäläinen, Eija, Aalto, Kristiina, Maksimow, Mikael, Salmi, Marko, Blankenberg, Stefan, Ardissino, Diego, Shah, Svati, Horne, Benjamin, McPherson, Ruth, Hovingh, Gerald K., Reilly, Muredach P., Watkins, Hugh, Goel, Anuj, Farrall, Martin, Girelli, Domenico, Reiner, Alex P., Stitziel, Nathan O., Kathiresan, Sekar, Gabriel, Stacey, Barrett, Jeffrey C., Lehtimäki, Terho, Laakso, Markku, Groop, Leif, Kaprio, Jaakko, Perola, Markus, McCarthy, Mark I., Boehnke, Michael, Altshuler, David M., Lindgren, Cecilia M., Hirschhorn, Joel N., Metspalu, Andres, Freimer, Nelson B., Zeller, Tanja, Jalkanen, Sirpa, Koskinen, Seppo, Raitakari, Olli, Durbin, Richard, MacArthur, Daniel G., Salomaa, Veikko, Ripatti, Samuli, Daly, Mark J., Palotie, Aarno
Vydáno 2014