Frequent POLE-driven hypermutation in ovarian endometrioid cancer revealed by mutational signatures in RNA sequencing

por Davila, Jaime I., Chanana, Pritha, Sarangi, Vivekananda, Fogarty, Zachary C., Weroha, S. John, Guo, Ruifeng, Goode, Ellen L., Huang, Yajue, Wang, Chen
Publicado 2021

Identification of Rare Genetic Variants in Familial Spontaneous Coronary Artery Dissection and Evidence for Shared Biological Pathways

por Turley, Tamiel N., Theis, Jeanne L., Evans, Jared M., Fogarty, Zachary C., Gulati, Rajiv, Hayes, Sharonne N., Tweet, Marysia S., Olson, Timothy M.
Publicado 2023

Mitochondrial MICOS complex genes, implicated in hypoplastic left heart syndrome, maintain cardiac contractility and actomyosin integrity

por Birker, Katja, Ge, Shuchao, Kirkland, Natalie J, Theis, Jeanne L, Marchant, James, Fogarty, Zachary C, Missinato, Maria A, Kalvakuri, Sreehari, Grossfeld, Paul, Engler, Adam J, Ocorr, Karen, Nelson, Timothy J, Colas, Alexandre R, Olson, Timothy M, Vogler, Georg, Bodmer, Rolf
Publicado 2023

An expanded variant list and assembly annotation identifies multiple novel coding and noncoding genes for prostate cancer risk using a normal prostate tissue eQTL data set

por DeRycke, Melissa S., Larson, Melissa C., Nair, Asha A., McDonnell, Shannon K., French, Amy J., Tillmans, Lori S., Riska, Shaun M., Baheti, Saurabh, Fogarty, Zachary C., Larson, Nicholas B., O’Brien, Daniel R., Cheville, John C., Wang, Liang, Schaid, Daniel J., Thibodeau, Stephen N.
Publicado 2019

Germline miRNA DNA variants and the risk of colorectal cancer by subtype

por Lindor, Noralane M., Larson, Melissa C., DeRycke, Melissa S., McDonnell, Shannon K., Baheti, Saurabh, Fogarty, Zachary C., Win, Aung Ko, Potter, John D., Buchanan, Daniel D., Clendenning, Mark, Newcomb, Polly A., Casey, Graham, Gallinger, Steven, Le Marchand, Loïc, Hopper, John L., Jenkins, Mark A., Goode, Ellen L., Thibodeau, Stephen N.
Publicado 2016

Patient-specific genomics and cross-species functional analysis implicate LRP2 in hypoplastic left heart syndrome

por Theis, Jeanne L, Vogler, Georg, Missinato, Maria A, Li, Xing, Nielsen, Tanja, Zeng, Xin-Xin I, Martinez-Fernandez, Almudena, Walls, Stanley M, Kervadec, Anaïs, Kezos, James N, Birker, Katja, Evans, Jared M, O'Byrne, Megan M, Fogarty, Zachary C, Terzic, André, Grossfeld, Paul, Ocorr, Karen, Nelson, Timothy J, Olson, Timothy M, Colas, Alexandre R, Bodmer, Rolf
Publicado 2020

Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes

por DeRycke, Melissa S., Gunawardena, Shanaka, Balcom, Jessica R., Pickart, Angela M., Waltman, Lindsey A., French, Amy J., McDonnell, Shannon, Riska, Shaun M., Fogarty, Zachary C., Larson, Melissa C., Middha, Sumit, Eckloff, Bruce W., Asmann, Yan W., Ferber, Matthew J., Haile, Robert W., Gallinger, Steven, Clendenning, Mark, Rosty, Christophe, Win, Aung K., Buchanan, Daniel D., Hopper, John L., Newcomb, Polly A., Le Marchand, Loic, Goode, Ellen L., Lindor, Noralane M., Thibodeau, Stephen N.
Publicado 2017

A targeted genetic association study of epithelial ovarian cancer susceptibility

por Earp, Madalene, Winham, Stacey J., Larson, Nicholas, Permuth, Jennifer B., Sicotte, Hugues, Chien, Jeremy, Anton-Culver, Hoda, Bandera, Elisa V., Berchuck, Andrew, Cook, Linda S., Cramer, Daniel, Doherty, Jennifer A., Goodman, Marc T., Levine, Douglas A., Monteiro, Alvaro N.A., Ness, Roberta B., Pearce, Celeste L., Rossing, Mary Anne, Tworoger, Shelley S., Wentzensen, Nicolas, Bisogna, Maria, Brinton, Louise, Brooks-Wilson, Angela, Carney, Michael E., Cunningham, Julie M., Edwards, Robert P., Fogarty, Zachary C., Iversen, Edwin S., Kraft, Peter, Larson, Melissa C., Le, Nhu D., Lin, Hui-Yi, Lissowska, Jolanta, Modugno, Francesmary, Moysich, Kirsten B., Olson, Sara H., Pike, Malcolm C., Poole, Elizabeth M., Rider, David N., Terry, Kathryn L., Thompson, Pamela J., van den Berg, David, Vierkant, Robert A., Vitonis, Allison F., Wilkens, Lynne R., Wu, Anna H., Yang, Hannah P., Ziogas, Argyrios, Phelan, Catherine M., Schildkraut, Joellen M., Chen, Yian Ann, Sellers, Thomas A., Fridley, Brooke L., Goode, Ellen L.
Publicado 2016

PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

por Southey, Melissa C, Goldgar, David E, Winqvist, Robert, Pylkäs, Katri, Couch, Fergus, Tischkowitz, Marc, Foulkes, William D, Dennis, Joe, Michailidou, Kyriaki, van Rensburg, Elizabeth J, Heikkinen, Tuomas, Nevanlinna, Heli, Hopper, John L, Dörk, Thilo, Claes, Kathleen BM, Reis-Filho, Jorge, Teo, Zhi Ling, Radice, Paolo, Catucci, Irene, Peterlongo, Paolo, Tsimiklis, Helen, Odefrey, Fabrice A, Dowty, James G, Schmidt, Marjanka K, Broeks, Annegien, Hogervorst, Frans B, Verhoef, Senno, Carpenter, Jane, Clarke, Christine, Scott, Rodney J, Fasching, Peter A, Haeberle, Lothar, Ekici, Arif B, Beckmann, Matthias W, Peto, Julian, dos-Santos-Silva, Isabel, Fletcher, Olivia, Johnson, Nichola, Bolla, Manjeet K, Sawyer, Elinor J, Tomlinson, Ian, Kerin, Michael J, Miller, Nicola, Marme, Federik, Burwinkel, Barbara, Yang, Rongxi, Guénel, Pascal, Truong, Thérèse, Menegaux, Florence, Sanchez, Marie, Bojesen, Stig, Nielsen, Sune F, Flyger, Henrik, Benitez, Javier, Zamora, M Pilar, Perez, Jose Ignacio Arias, Menéndez, Primitiva, Anton-Culver, Hoda, Neuhausen, Susan, Ziogas, Argyrios, Clarke, Christina A, Brenner, Hermann, Arndt, Volker, Stegmaier, Christa, Brauch, Hiltrud, Brüning, Thomas, Ko, Yon-Dschun, Muranen, Taru A, Aittomäki, Kristiina, Blomqvist, Carl, Bogdanova, Natalia V, Antonenkova, Natalia N, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M, Spurdle, Amanda B, Investigators, kConFab, Wauters, Els, Smeets, Dominiek, Beuselinck, Benoit, Floris, Giuseppe, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Olson, Janet E, Vachon, Celine, Pankratz, Vernon S, McLean, Catriona, Haiman, Christopher A, Henderson, Brian E, Schumacher, Fredrick, Le Marchand, Loic, Kristensen, Vessela, Alnæs, Grethe Grenaker, Zheng, Wei, Hunter, David J, Lindstrom, Sara, Hankinson, Susan E, Kraft, Peter, Andrulis, Irene, Knight, Julia A, Glendon, Gord, Mulligan, Anna Marie, Jukkola-Vuorinen, Arja, Grip, Mervi, Kauppila, Saila, Devilee, Peter, Tollenaar, Robert A E M, Seynaeve, Caroline, Hollestelle, Antoinette, Garcia-Closas, Montserrat, Figueroa, Jonine, Chanock, Stephen J, Lissowska, Jolanta, Czene, Kamila, Darabi, Hatef, Eriksson, Mikael, Eccles, Diana M, Rafiq, Sajjad, Tapper, William J, Gerty, Sue M, Hooning, Maartje J, Martens, John W M, Collée, J Margriet, Tilanus-Linthorst, Madeleine, Hall, Per, Li, Jingmei, Brand, Judith S, Humphreys, Keith, Cox, Angela, Reed, Malcolm W R, Luccarini, Craig, Baynes, Caroline, Dunning, Alison M, Hamann, Ute, Torres, Diana, Ulmer, Hans Ulrich, Rüdiger, Thomas, Jakubowska, Anna, Lubinski, Jan, Jaworska, Katarzyna, Durda, Katarzyna, Slager, Susan, Toland, Amanda E, Ambrosone, Christine B, Yannoukakos, Drakoulis, Swerdlow, Anthony, Ashworth, Alan, Orr, Nick, Jones, Michael, González-Neira, Anna, Pita, Guillermo, Alonso, M Rosario, Álvarez, Nuria, Herrero, Daniel, Tessier, Daniel C, Vincent, Daniel, Bacot, Francois, Simard, Jacques, Dumont, Martine, Soucy, Penny, Eeles, Rosalind, Muir, Kenneth, Wiklund, Fredrik, Gronberg, Henrik, Schleutker, Johanna, Nordestgaard, Børge G, Weischer, Maren, Travis, Ruth C, Neal, David, Donovan, Jenny L, Hamdy, Freddie C, Khaw, Kay-Tee, Stanford, Janet L, Blot, William J, Thibodeau, Stephen, Schaid, Daniel J, Kelley, Joseph L, Maier, Christiane, Kibel, Adam S, Cybulski, Cezary, Cannon-Albright, Lisa, Butterbach, Katja, Park, Jong, Kaneva, Radka, Batra, Jyotsna, Teixeira, Manuel R, Kote-Jarai, Zsofia, Olama, Ali Amin Al, Benlloch, Sara, Renner, Stefan P, Hartmann, Arndt, Hein, Alexander, Ruebner, Matthias, Lambrechts, Diether, Van Nieuwenhuysen, Els, Vergote, Ignace, Lambretchs, Sandrina, Doherty, Jennifer A, Rossing, Mary Anne, Nickels, Stefan, Eilber, Ursula, Wang-Gohrke, Shan, Odunsi, Kunle, Sucheston-Campbell, Lara E, Friel, Grace, Lurie, Galina, Killeen, Jeffrey L, Wilkens, Lynne R, Goodman, Marc T, Runnebaum, Ingo, Hillemanns, Peter A, Pelttari, Liisa M, Butzow, Ralf, Modugno, Francesmary, Edwards, Robert P, Ness, Roberta B, Moysich, Kirsten B, du Bois, Andreas, Heitz, Florian, Harter, Philipp, Kommoss, Stefan, Karlan, Beth Y, Walsh, Christine, Lester, Jenny, Jensen, Allan, Kjaer, Susanne Krüger, Høgdall, Estrid, Peissel, Bernard, Bonanni, Bernardo, Bernard, Loris, Goode, Ellen L, Fridley, Brooke L, Vierkant, Robert A, Cunningham, Julie M, Larson, Melissa C, Fogarty, Zachary C, Kalli, Kimberly R, Liang, Dong, Lu, Karen H, Hildebrandt, Michelle A T, Wu, Xifeng, Levine, Douglas A, Dao, Fanny, Bisogna, Maria, Berchuck, Andrew, Iversen, Edwin S, Marks, Jeffrey R, Akushevich, Lucy, Cramer, Daniel W, Schildkraut, Joellen, Terry, Kathryn L, Poole, Elizabeth M, Stampfer, Meir, Tworoger, Shelley S, Bandera, Elisa V, Orlow, Irene, Olson, Sara H, Bjorge, Line, Salvesen, Helga B, van Altena, Anne M, Aben, Katja K H, Kiemeney, Lambertus A, Massuger, Leon F A G, Pejovic, Tanja, Bean, Yukie, Brooks-Wilson, Angela, Kelemen, Linda E, Cook, Linda S, Le, Nhu D, Górski, Bohdan, Gronwald, Jacek, Menkiszak, Janusz, Høgdall, Claus K, Lundvall, Lene, Nedergaard, Lotte, Engelholm, Svend Aage, Dicks, Ed, Tyrer, Jonathan, Campbell, Ian, McNeish, Iain, Paul, James, Siddiqui, Nadeem, Glasspool, Rosalind, Whittemore, Alice S, Rothstein, Joseph H, McGuire, Valerie, Sieh, Weiva, Cai, Hui, Shu, Xiao-Ou, Teten, Rachel T, Sutphen, Rebecca, McLaughlin, John R, Narod, Steven A, Phelan, Catherine M, Monteiro, Alvaro N, Fenstermacher, David, Lin, Hui-Yi, Permuth, Jennifer B, Sellers, Thomas A, Chen, Y Ann, Tsai, Ya-Yu, Chen, Zhihua, Gentry-Maharaj, Aleksandra, Gayther, Simon A, Ramus, Susan J, Menon, Usha, Wu, Anna H, Pearce, Celeste L, Van Den Berg, David, Pike, Malcolm C, Dansonka-Mieszkowska, Agnieszka, Plisiecka-Halasa, Joanna, Moes-Sosnowska, Joanna, Kupryjanczyk, Jolanta, Pharoah, Paul DP, Song, Honglin, Winship, Ingrid, Chenevix-Trench, Georgia, Giles, Graham G, Tavtigian, Sean V, Easton, Doug F, Milne, Roger L
Publicado 2016