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

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

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

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

A novel polymorphism of the human CD40 receptor with enhanced function

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

Challenges and standards in integrating surveys of structural variation

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

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

od 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
Wydane 2011

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

od 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
Wydane 2009

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

od 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.
Wydane w Am J Hum Genet (2014)

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

od 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. 
Wydane 2006

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

od 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
Wydane 2009

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

od 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
Wydane 2011

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

od 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.
Wydane w BMC Endocr Disord (2016)

Increased Burden of Cardiovascular Disease in Carriers of APOL1 Genetic Variants

od 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
Wydane 2013

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

od 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
Wydane w Nat Genet (2015)

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

od 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
Wydane 2008

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

od 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
Wydane 2012

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

od 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.
Wydane 2009

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

od 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.
Wydane w Cell (2017)

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

od 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.
Wydane 2013

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

od 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.
Wydane w Sci Transl Med (2015)

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

od 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
Wydane 2014