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

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

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

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

A novel polymorphism of the human CD40 receptor with enhanced function

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

Challenges and standards in integrating surveys of structural variation

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

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

Por 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
Publicado em 2011

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

Por 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
Publicado em 2009

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

Por 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.
Publicado no Am J Hum Genet (2014)

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

Por 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. 
Publicado em 2006

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

Por 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
Publicado em 2009

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

Por 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
Publicado em 2011

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

Por 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.
Publicado no BMC Endocr Disord (2016)

Increased Burden of Cardiovascular Disease in Carriers of APOL1 Genetic Variants

Por 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
Publicado em 2013

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

Por 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
Publicado no Nat Genet (2015)

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

Por 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
Publicado em 2008

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

Por 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
Publicado em 2012

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

Por 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.
Publicado em 2009

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

Por 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.
Publicado em 2013

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

Por 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.
Publicado no Sci Transl Med (2015)

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

Por 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
Publicado em 2014

Analysis of protein-coding genetic variation in 60,706 humans

Por Lek, Monkol, Karczewski, Konrad J, Minikel, Eric V, Samocha, Kaitlin E, Banks, Eric, Fennell, Timothy, O'Donnell-Luria, Anne H, Ware, James S, Hill, Andrew J, Cummings, Beryl B, Tukiainen, Taru, Birnbaum, Daniel P, Kosmicki, Jack A, Duncan, Laramie E, Estrada, Karol, Zhao, Fengmei, Zou, James, Pierce-Hoffman, Emma, Berghout, Joanne, Cooper, David N, Deflaux, Nicole, DePristo, Mark, Do, Ron, Flannick, Jason, Fromer, Menachem, Gauthier, Laura, Goldstein, Jackie, Gupta, Namrata, Howrigan, Daniel, Kiezun, Adam, Kurki, Mitja I, Moonshine, Ami Levy, Natarajan, Pradeep, Orozco, Lorena, Peloso, Gina M, Poplin, Ryan, Rivas, Manuel A, Ruano-Rubio, Valentin, Rose, Samuel A, Ruderfer, Douglas M, Shakir, Khalid, Stenson, Peter D, Stevens, Christine, Thomas, Brett P, Tiao, Grace, Tusie-Luna, Maria T, Weisburd, Ben, Won, Hong-Hee, Yu, Dongmei, Altshuler, David M, Ardissino, Diego, Boehnke, Michael, Danesh, John, Donnelly, Stacey, Elosua, Roberto, Florez, Jose C, Gabriel, Stacey B, Getz, Gad, Glatt, Stephen J, Hultman, Christina M, Kathiresan, Sekar, Laakso, Markku, McCarroll, Steven, McCarthy, Mark I, McGovern, Dermot, McPherson, Ruth, Neale, Benjamin M, Palotie, Aarno, Purcell, Shaun M, Saleheen, Danish, Scharf, Jeremiah M, Sklar, Pamela, Sullivan, Patrick F, Tuomilehto, Jaakko, Tsuang, Ming T, Watkins, Hugh C, Wilson, James G, Daly, Mark J, MacArthur, Daniel G
Publicado no Nature (2016)