Improved detection of global copy number variation using high density, non-polymorphic oligonucleotide probes

by Liu Guoying, Zhang Jane, Chen Wenwei, Kirby Andrew, Truong Vivi B, Fitch Karen R, Huang Jing, Shen Fan, McCarroll Steven A, Jones Keith W, Shapero Michael H
Published 2008-03-01

Landscape of X chromosome inactivation across human tissues

by Tukiainen, Taru, Villani, Alexandra-Chloé, Yen, Angela, Rivas, Manuel A., Marshall, Jamie L., Satija, Rahul, Aguirre, Matt, Gauthier, Laura, Fleharty, Mark, Kirby, Andrew, Cummings, Beryl B., Castel, Stephane E., Karczewski, Konrad J., Aguet, François, Byrnes, Andrea, Lappalainen, Tuuli, Regev, Aviv, Ardlie, Kristin G., Hacohen, Nir, MacArthur, Daniel G.
Published 2018

Androgen-sensitive hypertension associated with soluble guanylate cyclase alpha1 deficiency is mediated by 20-HETE

by Vandenwijngaert, Sara, Dordea, Ana C, Garcia, Victor, Tainsh, Robert E, Nathan, Daniel I, Raher, Michael J, Allen, Kaitlin, Zhang, Fan, Lieb, Wolfgang S, Mikelman, Sarah, Kirby, Andrew, Stevens, Christine, Thoonen, Robrecht, Hindle, Allyson, Sips, Patrick Y, Malhotra, Rajeev, Daly, Mark J, Brouckaert, Peter, Bloch, Kenneth D, Schwartzman, Michal, Buys, Emmanuel S
Published 2015

Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

by Kirby, Andrew, Gnirke, Andreas, Jaffe, David B., Baresova, Veronika, Pochet, Nathalie, Blumenstiel, Brendan, Ye, Chun, Aird, Daniel, Stevens, Christine, Robinson, James T., Cabili, Moran N., Gat-Viks, Irit, Kelliher, Edward, Daza, Riza, DeFelice, Matthew, Hulkova, Helena, Sovova, Jana, Vylet'al, Petr, Antignac, Corinne, Guttman, Mitchell, Handsaker, Robert E., Perrin, Danielle, Steelman, Scott, Sigurdsson, Snaevar, Scheinman, Steven J., Sougnez, Carrie, Cibulskis, Kristian, Parkin, Melissa, Green, Todd, Rossin, Elizabeth, Zody, Michael C., Xavier, Ramnik J., Pollak, Martin R., Alper, Seth L., Lindblad-Toh, Kerstin, Gabriel, Stacey B., Hart, P. Suzanne, Regev, Aviv, Nusbaum, Chad, Kmoch, Stanislav, Bleyer, Anthony J., Daly, Mark J., Lander, Eric Steven
Published 2013

The genetic architecture of pediatric cognitive abilities in the Philadelphia Neurodevelopmental Cohort

by Robinson, Elise B., Kirby, Andrew, Ruparel, Kosha, Yang, Jian, McGrath, Lauren, Anttila, Verneri, Neale, Benjamin M., Merikangas, Kathleen, Lehner, Thomas, Sleiman, Patrick M.A., Daly, Mark J., Gur, Ruben, Gur, Raquel, Hakonarson, Hakon
Published 2015

Genetic modifiers of hypertension in soluble guanylate cyclase α1–deficient mice

by Buys, Emmanuel, Raher, Michael J., Kirby, Andrew, Mohd, Shahid, Baron, David William, Hayton, Sarah R., Tainsh, Laurel T., Sips, Patrick, Rauwerdink, Kristen M., Yan, Qingshang, Tainsh, Robert E, Shakartzi, Hannah R., Stevens, Christine, Decaluwé, Kelly, Rodrigues-Machado, Maria da Gloria, Malhotra, Rajeev, Van de Voorde, Johan, Wang, Tong, Brouckaert, Peter, Daly, Mark Joseph, Bloch, Kenneth Daniel
Published 2015

Ataxia, Dementia, and Hypogonadotropism Caused by Disordered Ubiquitination

by Margolin, David H., Kousi, Maria, Chan, Yee-Ming, Lim, Elaine T., Schmahmann, Jeremy Dan, Hadjivassiliou, Marios, Hall, Janet E., Adam, Ibrahim, Dwyer, Andrew, Plummer, Lacey, Aldrin, Stephanie V., O, Julia, Kirby, Andrew, Lage, Kasper, Milunsky, Aubrey, Milunsky, Jeff M., Chan, Jennifer Ang, Hedley-Whyte, E. Tessa, Daly, Mark Joseph, Katsanis, Nicholas, Seminara, Stephanie Beth
Published 2017

Complex Reorganization and Predominant Non-Homologous Repair Following Chromosomal Breakage in Karyotypically Balanced Germline Rearrangements and Transgenic Integration

by Chiang, Colby, Jacobsen, Jessie C., Ernst, Carl, Hanscom, Carrie, Heilbut, Adrian, Blumenthal, Ian, Mills, Ryan E., Kirby, Andrew, Rudiger, Skye R., McLaughlan, Clive J., Bawden, C. Simon, Reid, Suzanne J., Faull, Richard L. M., Snell, Russell G., Hall, Ira M., Ohsumi, Toshiro K., Shen, Yiping, Borowsky, Mark L, Daly, Mark Joseph, Lee, Charles, Morton, Cynthia Casson, MacDonald, Marcy Elizabeth, Gusella, James Francis, Talkowski, Michael Edward, Lindgren, Amelia M.
Published 2013

Fast Mapping onto Census Blocks

by Kepner, Jeremy, Kipf, Andreas, Engwirda, Darren, Vembar, Navin, Jones, Michael, Milechin, Lauren, Gadepally, Vijay, Hill, Chris, Kraska, Tim, Arcand, William, Bestor, David, Bergeron, William, Byun, Chansup, Hubbell, Matthew, Houle, Michael, Kirby, Andrew, Klein, Anna, Mullen, Julie, Prout, Andrew, Reuther, Albert, Rosa, Antonio, Samsi, Sid, Yee, Charles, Michaleas, Peter
Published 2022

Consensus-based antimicrobial resistance and stewardship competencies for UK undergraduate medical students.

by McMaster, David, Courtenay, Molly, Santucci, Catherine, Davies, Angharad P, Kirby, Andrew, Seddon, Owen, Price, David A, Barlow, Gavin, Lim, Felicia H, Davies, Bethany S, O'Shea, Matthew K, Collini, Paul, Basarab, Marina, Ahmad, Afshan, Albur, Mahableshwar, Hemsley, Carolyn, Brown, Nicholas M, O'Gorman, Ciaran, Rautemaa-Richardson, Riina, Davies, Geraint R, Penfold, Christopher N, Patel, Sanjay, Keep Antibiotics Working (KAW) group
Published 2021

A framework for the interpretation of de novo mutation in human disease

by Samocha, Kaitlin E., Robinson, Elise B., Sanders, Stephan J., Stevens, Christine, Sabo, Aniko, McGrath, Lauren M., Kosmicki, Jack A., Rehnström, Karola, Mallick, Swapan, Kirby, Andrew, Wall, Dennis P., MacArthur, Daniel G., Gabriel, Stacey B., dePristo, Mark, Purcell, Shaun M., Palotie, Aarno, Boerwinkle, Eric, Buxbaum, Joseph D., Cook, Edwin H., Gibbs, Richard A., Schellenberg, Gerard D., Sutcliffe, James S., Devlin, Bernie, Roeder, Kathryn, Neale, Benjamin M., Daly, Mark J.
Published 2015

Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.

by Kirby, Andrew, Gnirke, Andreas, Jaffe, David B, Barešová, Veronika, Pochet, Nathalie, Blumenstiel, Brendan, Ye, Chun, Aird, Daniel, Stevens, Christine, Robinson, James T, Cabili, Moran N, Gat-Viks, Irit, Kelliher, Edward, Daza, Riza, DeFelice, Matthew, Hůlková, Helena, Sovová, Jana, Vylet'al, Petr, Antignac, Corinne, Guttman, Mitchell, Handsaker, Robert E, Perrin, Danielle, Steelman, Scott, Sigurdsson, Snaevar, Scheinman, Steven J, Sougnez, Carrie, Cibulskis, Kristian, Parkin, Melissa, Green, Todd, Rossin, Elizabeth, Zody, Michael C, Xavier, Ramnik J, Pollak, Martin R, Alper, Seth L, Lindblad-Toh, Kerstin, Gabriel, Stacey, Hart, P Suzanne, Regev, Aviv, Nusbaum, Chad, Kmoch, Stanislav, Bleyer, Anthony J, Lander, Eric S, Daly, Mark J
Published 2013

Mutations causing medullary cystic kidney disease type 1 (MCKD1) lie in a large VNTR in MUC1 missed by massively parallel sequencing

by Kirby, Andrew, Gnirke, Andreas, Jaffe, David B., Barešová, Veronika, Pochet, Nathalie, Blumenstiel, Brendan, Ye, Chun, Aird, Daniel, Stevens, Christine, Robinson, James T., Cabili, Moran N., Gat-Viks, Irit, Kelliher, Edward, Daza, Riza, DeFelice, Matthew, Hůlková, Helena, Sovová, Jana, Vylet’al, Petr, Antignac, Corinne, Guttman, Mitchell, Handsaker, Robert E., Perrin, Danielle, Steelman, Scott, Sigurdsson, Snaevar, Scheinman, Steven J., Sougnez, Carrie, Cibulskis, Kristian, Parkin, Melissa, Green, Todd, Rossin, Elizabeth, Zody, Michael C., Xavier, Ramnik J., Pollak, Martin R., Alper, Seth L., Lindblad-Toh, Kerstin, Gabriel, Stacey, Hart, P. Suzanne, Regev, Aviv, Nusbaum, Chad, Kmoch, Stanislav, Bleyer, Anthony J., Lander, Eric S., Daly, Mark J.
Published 2014

Autosomal Monoallelic Expression in the Mouse

by Zwemer, Lillian M, Zak, Alexander, Thompson, Benjamin R, Kirby, Andrew, Daly, Mark Joseph, Chess, Andrew, Gimelbrant, Alexander
Published 2013

Genetic resistance to diet-induced obesity in chromosome substitution strains of mice

by Burrage, Lindsay C., Baskin-Hill, Annie E., Sinasac, David S., Singer, Jonathan B., Croniger, Colleen M., Kirby, Andrew, Kulbokas, E. J., Daly, Mark J., Broman, Karl W., Nadeau, Joseph H., Lander, Eric Steven
Published 2014

Improved detection of global copy number variation using high density, non-polymorphic oligonucleotide probes

by Shen, Fan, Huang, Jing, Fitch, Karen R., Truong, Vivi B., Kirby, Andrew, Chen, Wenwei, Zhang, Jane, Liu, Guoying, McCarroll, Steven A., Jones, Keith W., Shapero, Michael H.
Published 2012

Pathway Analyses Implicate Glial Cells in Schizophrenia

by Duncan, Laramie E., Holmans, Peter A., Lee, Phil H., O'Dushlaine, Colm T., Kirby, Andrew W., Smoller, Jordan W., Öngür, Dost, Cohen, Bruce M.
Published 2014

Landscape of X chromosome inactivation across human tissues

by Tukiainen, Taru, Villani, Alexandra-Chloé, Rivas, Manuel A., Marshall, Jamie L., Satija, Rahul, Aguirre, Matt, Gauthier, Laura, Fleharty, Mark, Kirby, Andrew, Cummings, Beryl B., Castel, Stephane E., Karczewski, Konrad J., Aguet, François, Byrnes, Andrea, Aguet, François, Ardlie, Kristin G., Cummings, Beryl B., Gelfand, Ellen T., Getz, Gad, Hadley, Kane, Handsaker, Robert E., Huang, Katherine H., Kashin, Seva, Karczewski, Konrad J., Lek, Monkol, Li, Xiao, MacArthur, Daniel G., Yen, Angela, Regev, Aviv
Published 2018

Patterns and rates of exonic de novo mutations in autism spectrum disorders

by Neale, Benjamin Michael, Kou, Yan, Liu, Li, Ma'ayan, Avi, Samocha, Kaitlin Elisabeth, Sabo, Aniko, Lin, Chiao-Feng, Stevens, Christine, Wang, Li-San, Makarov, Vladimir, Polak, Pazi Penchas, Yoon, Seungtai, Maguire, Jared, Crawford, Emily L., Campbell, Nicholas G., Geller, Evan T., Valladares, Otto, Shafer, Chad, Liu, Han, Zhao, Tuo, Cai, Guiqing, Lihm, Jayon, Dannenfelser, Ruth, Jabado, Omar, Peralta, Zuleyma, Nagaswamy, Uma, Muzny, Donna, Reid, Jeffrey G., Newsham, Irene, Wu, Yuanqing, Lewis, Lora, Han, Yi, Voight, Benjamin F., Lim, Elaine, Rossin, Elizabeth Jeffries, Kirby, Andrew, Flannick, Jason A., Fromer, Menachem, Shakir, Khalid, Fennell, Tim, Garimella, Kiran, Banks, Eric, Poplin, Ryan, Gabriel, Stacey, DePristo, Mark, Wimbish, Jack R., Boone, Braden E., Levy, Shawn E., Betancur, Catalina, Sunyaev, Shamil R., Boerwinkle, Eric, Buxbaum, Joseph D., Cook, Edwin H., Devlin, Bernie, Gibbs, Richard A., Roeder, Kathryn, Schellenberg, Gerard D., Sutcliffe, James S., Daly, Mark Joseph
Published 2013