Expanding the BP1-BP2 15q11.2 Microdeletion Phenotype: Tracheoesophageal Fistula and Congenital Cataracts

por Wong, D., Johnson, S. M., Young, D., Iwamoto, L., Sood, S., Slavin, T. P.
Publicado 2013

The effects of genomic germline variant reclassification on clinical cancer care

por Slavin, Thomas P., Manjarrez, Sophia, Pritchard, Colin C., Gray, Stacy, Weitzel, Jeffrey N.
Publicado 2019

Bilateral Radial Ulnar Synostosis and Vertebral Anomalies in a Child with a De Novo 16p13.3 Interstitial Deletion

por Tam, Allison, Lee, Kit Shan, Lee, Sansan, Burkhalter, William, Pascua, Lucio U., Slavin, Thomas P.
Publicado 2013

Systematic misclassification of missense variants in BRCA1 and BRCA2 “coldspots”

por Dines, Jennifer N., Shirts, Brian H., Slavin, Thomas P., Walsh, Tom, King, Mary-Claire, Fowler, Douglas M., Pritchard, Colin C.
Publicado 2020

The association between age at breast cancer diagnosis and prevalence of pathogenic variants

por Daly, Mary B., Rosenthal, Eric, Cummings, Shelly, Bernhisel, Ryan, Kidd, John, Hughes, Elisha, Gutin, Alexander, Meek, Stephanie, Slavin, Thomas P., Kurian, Allison W.
Publicado 2023

Mutation screening of germline TP53 mutations in high-risk Chinese breast cancer patients

por Kwong, Ava, Shin, Vivian Yvonne, Ho, Cecilia Y. S., Au, Chun Hang, Slavin, Thomas P., Weitzel, Jeffrey N., Chan, Tsun-Leung, Ma, Edmond S. K.
Publicado 2020

Comprehensive Breast Cancer Risk Assessment for CHEK2 and ATM Pathogenic Variant Carriers Incorporating a Polygenic Risk Score and the Tyrer-Cuzick Model

por Gallagher, Shannon, Hughes, Elisha, Kurian, Allison W., Domchek, Susan M., Garber, Judy, Probst, Braden, Morris, Brian, Tshiaba, Placede, Meek, Stephanie, Rosenthal, Eric, Roa, Benjamin, Slavin, Thomas P., Wagner, Susanne, Weitzel, Jeffrey, Gutin, Alexander, Lanchbury, Jerry S., Robson, Mark
Publicado 2021

Association between Clonal Hematopoiesis and Late Nonrelapse Mortality after Autologous Hematopoietic Cell Transplantation

por Slavin, Thomas P., Teh, Jennifer Berano, Weitzel, Jeffrey N., Peng, Kelly, Wong, F. Lennie, Qin, Hanjun, Wang, Jinhui, Wu, Xiewei, Mei, Matthew, Pillai, Raju, Wang, Yafan, Tsang, Kevin Karwing, Pozhitkov, Alex, Krishnan, Amrita, Forman, Stephen J., Armenian, Saro H.
Publicado 2019

Rlip depletion prevents spontaneous neoplasia in TP53 null mice

por Awasthi, Sanjay, Tompkins, Joshua, Singhal, Jyotsana, Riggs, Arthur D., Yadav, Sushma, Wu, Xiwei, Singh, Sharda, Warden, Charles, Liu, Zheng, Wang, Jinhui, Slavin, Thomas P., Weitzel, Jeffrey N., Yuan, Yate-Ching, Awasthi, Meenakshi, Srivastava, Satish K., Awasthi, Yogesh C., Singhal, Sharad S.
Publicado 2018

Abnormal body composition is a predictor of adverse outcomes after autologous haematopoietic cell transplantation

por Armenian, Saro H., Iukuridze, Aleksi, Teh, Jennifer Berano, Mascarenhas, Kristen, Herrera, Alex, McCune, Jeannine S., Zain, Jasmine M., Mostoufi‐Moab, Sogol, McCormack, Shana, Slavin, Thomas P., Scott, Jessica M., Jones, Lee W., Sun, Can‐Lan, Forman, Stephen J., Wong, F. Lennie, Nakamura, Ryotaro
Publicado 2020

Clinical Validation of EndoPredict in Pre-Menopausal Women with ER-Positive, HER2-Negative Primary Breast Cancer

por Constantinidou, Anastasia, Marcou, Yiola, Toss, Michael S., Simmons, Timothy, Bernhisel, Ryan, Hughes, Elisha, Probst, Braden, Meek, Stephanie, Kakouri, Eleni, Georgiou, Georgios, Zouvani, Ioanna, Savvidou, Gabriella, Kuhl, Vanessa, Doedt, Jennifer, Wagner, Susanne, Gutin, Alexander, Slavin, Thomas P., Lanchbury, Jerry S., Kronenwett, Ralf, Ellis, Ian O., Rakha, Emad A.
Publicado 2022

Development and Validation of a Breast Cancer Polygenic Risk Score on the Basis of Genetic Ancestry Composition

por Hughes, Elisha, Wagner, Susanne, Pruss, Dmitry, Bernhisel, Ryan, Probst, Braden, Abkevich, Victor, Simmons, Timothy, Hullinger, Brooke, Judkins, Thaddeus, Rosenthal, Eric, Roa, Benjamin, Domchek, Susan M., Eng, Charis, Garber, Judy, Gary, Monique, Klemp, Jennifer, Mukherjee, Semanti, Offit, Kenneth, Olopade, Olufunmilayo I., Vijai, Joseph, Weitzel, Jeffrey N., Whitworth, Pat, Yehia, Lamis, Gordon, Ora, Pederson, Holly, Kurian, Allison, Slavin, Thomas P., Gutin, Alexander, Lanchbury, Jerry S.
Publicado 2022

The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk

por Slavin, Thomas P., Maxwell, Kara N., Lilyquist, Jenna, Vijai, Joseph, Neuhausen, Susan L., Hart, Steven N., Ravichandran, Vignesh, Thomas, Tinu, Maria, Ann, Villano, Danylo, Schrader, Kasmintan A., Moore, Raymond, Hu, Chunling, Wubbenhorst, Bradley, Wenz, Brandon M., D’Andrea, Kurt, Robson, Mark E., Peterlongo, Paolo, Bonanni, Bernardo, Ford, James M., Garber, Judy E., Domchek, Susan M., Szabo, Csilla, Offit, Kenneth, Nathanson, Katherine L., Weitzel, Jeffrey N., Couch, Fergus J.
Publicado 2017

Author Correction: The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk

por Slavin, Thomas P., Maxwell, Kara N., Lilyquist, Jenna, Vijai, Joseph, Neuhausen, Susan L., Hart, Steve N., Ravichandran, Vignesh, Thomas, Tinu, Maria, Ann, Villano, Danylo, Schrader, Kasmintan A., Moore, Raymond, Hu, Chunling, Wubbenhorst, Bradley, Wenz, Brandon M., D’Andrea, Kurt, Robson, Mark E., Peterlongo, Paolo, Bonanni, Bernardo, Ford, James M., Garber, Judy E., Domchek, Susan M., Szabo, Csilla, Offit, Kenneth, Nathanson, Katherine L., Weitzel, Jeffrey N., Couch, Fergus J.
Publicado 2017

Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes

por Sun, Chong, Song, Jie, Jiang, Yanjun, Zhao, Chongbo, Lu, Jiahong, Li, Yuxin, Wang, Yin, Gao, Mingshi, Xi, Jianying, Luo, Sushan, Li, Meixia, Donaldson, Kevin, Oprescu, Stephanie N., Slavin, Thomas P., Lee, Sansan, Magoulas, Pilar L., Lewis, Andrea M., Emrick, Lisa, Lalani, Seema R., Niu, Zhiyv, Landsverk, Megan L., Walkiewicz, Magdalena, Person, Richard E., Mei, Hui, Rosenfeld, Jill A., Yang, Yaping, Antonellis, Anthony, Hou, Ya-Ming, Lin, Jie, Zhang, Victor W.
Publicado 2019

Identifying homologous recombination deficiency in breast cancer: genomic instability score distributions differ among breast cancer subtypes

por Lenz, Lauren, Neff, Chris, Solimeno, Cara, Cogan, Elizabeth S., Abramson, Vandana G., Boughey, Judy C., Falkson, Carla, Goetz, Matthew P., Ford, James M., Gradishar, William J., Jankowitz, Rachel C., Kaklamani, Virginia G., Marcom, P. Kelly, Richardson, Andrea L., Storniolo, Anna Maria, Tung, Nadine M., Vinayak, Shaveta, Hodgson, Darren R., Lai, Zhongwu, Dearden, Simon, Hennessy, Bryan T., Mayer, Erica L., Mills, Gordon B., Slavin, Thomas P., Gutin, Alexander, Connolly, Roisin M., Telli, Melinda L., Stearns, Vered, Lanchbury, Jerry S., Timms, Kirsten M.
Publicado 2023

Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers

por Walker, Logan C, Marquart, Louise, Pearson, John F, Wiggins, George A R, O'Mara, Tracy A, Parsons, Michael T, Barrowdale, Daniel, McGuffog, Lesley, Dennis, Joe, Benitez, Javier, Slavin, Thomas P, Radice, Paolo, Frost, Debra, Godwin, Andrew K, Meindl, Alfons, Schmutzler, Rita Katharina, Isaacs, Claudine, Peshkin, Beth N, Caldes, Trinidad, Hogervorst, Frans BL, Lazaro, Conxi, Jakubowska, Anna, Montagna, Marco, Chen, Xiaoqing, Offit, Kenneth, Hulick, Peter J, Andrulis, Irene L, Lindblom, Annika, Nussbaum, Robert L, Nathanson, Katherine L, Chenevix-Trench, Georgia, Antoniou, Antonis C, Couch, Fergus J, Spurdle, Amanda B
Publicado 2017

Correction: Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers

por Walker, Logan C., Marquart, Louise, Pearson, John F., Wiggins, George A. R., O’Mara, Tracy A., Parsons, Michael T., Barrowdale, Daniel, McGuffog, Lesley, Dennis, Joe, Benitez, Javier, Slavin, Thomas P., Radice, Paolo, Frost, Debra, Godwin, Andrew K., Meindl, Alfons, Schmutzler, Rita Katharina, Isaacs, Claudine, Peshkin, Beth N., Caldes, Trinidad, Hogervorst, Frans B. L., Lazaro, Conxi, Jakubowska, Anna, Montagna, Marco, Chen, Xiaoqing, Offit, Kenneth, Hulick, Peter J., Andrulis, Irene L., Lindblom, Annika, Nussbaum, Robert L., Nathanson, Katherine L., Chenevix-Trench, Georgia, Antoniou, Antonis C., Couch, Fergus J., Spurdle, Amanda B.
Publicado 2018

Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

por Vigorito, Elena, Kuchenbaecker, Karoline B., Beesley, Jonathan, Adlard, Julian, Agnarsson, Bjarni A., Andrulis, Irene L., Arun, Banu K., Barjhoux, Laure, Belotti, Muriel, Benitez, Javier, Berger, Andreas, Bojesen, Anders, Bonanni, Bernardo, Brewer, Carole, Caldes, Trinidad, Caligo, Maria A., Campbell, Ian, Chan, Salina B., Claes, Kathleen B. M., Cohn, David E., Cook, Jackie, Daly, Mary B., Damiola, Francesca, Davidson, Rosemarie, de Pauw, Antoine, Delnatte, Capucine, Diez, Orland, Domchek, Susan M., Dumont, Martine, Durda, Katarzyna, Dworniczak, Bernd, Easton, Douglas F., Eccles, Diana, Edwinsdotter Ardnor, Christina, Eeles, Ros, Ejlertsen, Bent, Ellis, Steve, Evans, D. Gareth, Feliubadalo, Lidia, Fostira, Florentia, Foulkes, William D., Friedman, Eitan, Frost, Debra, Gaddam, Pragna, Ganz, Patricia A., Garber, Judy, Garcia-Barberan, Vanesa, Gauthier-Villars, Marion, Gehrig, Andrea, Gerdes, Anne-Marie, Giraud, Sophie, Godwin, Andrew K., Goldgar, David E., Hake, Christopher R., Hansen, Thomas V. O., Healey, Sue, Hodgson, Shirley, Hogervorst, Frans B. L., Houdayer, Claude, Hulick, Peter J., Imyanitov, Evgeny N., Isaacs, Claudine, Izatt, Louise, Izquierdo, Angel, Jacobs, Lauren, Jakubowska, Anna, Janavicius, Ramunas, Jaworska-Bieniek, Katarzyna, Jensen, Uffe Birk, John, Esther M., Vijai, Joseph, Karlan, Beth Y., Kast, Karin, Khan, Sofia, Kwong, Ava, Laitman, Yael, Lester, Jenny, Lesueur, Fabienne, Liljegren, Annelie, Lubinski, Jan, Mai, Phuong L., Manoukian, Siranoush, Mazoyer, Sylvie, Meindl, Alfons, Mensenkamp, Arjen R., Montagna, Marco, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Niederacher, Dieter, Olah, Edith, Olopade, Olufunmilayo I., Ong, Kai-ren, Osorio, Ana, Park, Sue Kyung, Paulsson-Karlsson, Ylva, Pedersen, Inge Sokilde, Peissel, Bernard, Peterlongo, Paolo, Pfeiler, Georg, Phelan, Catherine M., Piedmonte, Marion, Poppe, Bruce, Pujana, Miquel Angel, Radice, Paolo, Rennert, Gad, Rodriguez, Gustavo C., Rookus, Matti A., Ross, Eric A., Schmutzler, Rita Katharina, Simard, Jacques, Singer, Christian F., Slavin, Thomas P., Soucy, Penny, Southey, Melissa, Steinemann, Doris, Stoppa-Lyonnet, Dominique, Sukiennicki, Grzegorz, Sutter, Christian, Szabo, Csilla I., Tea, Muy-Kheng, Teixeira, Manuel R., Teo, Soo-Hwang, Terry, Mary Beth, Thomassen, Mads, Tibiletti, Maria Grazia, Tihomirova, Laima, Tognazzo, Silvia, van Rensburg, Elizabeth J., Varesco, Liliana, Varon-Mateeva, Raymonda, Vratimos, Athanassios, Weitzel, Jeffrey N., McGuffog, Lesley, Kirk, Judy, Toland, Amanda Ewart, Hamann, Ute, Lindor, Noralane, Ramus, Susan J., Greene, Mark H., Couch, Fergus J., Offit, Kenneth, Pharoah, Paul D. P., Chenevix-Trench, Georgia, Antoniou, Antonis C.
Publicado 2016

Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer...

por Hamdi, Yosr, Soucy, Penny, Kuchenbaeker, Karoline B., Pastinen, Tomi, Droit, Arnaud, Lemaçon, Audrey, Adlard, Julian, Aittomäki, Kristiina, Andrulis, Irene L., Arason, Adalgeir, Arnold, Norbert, Arun, Banu K., Azzollini, Jacopo, Bane, Anita, Barjhoux, Laure, Barrowdale, Daniel, Benitez, Javier, Berthet, Pascaline, Blok, Marinus J., Bobolis, Kristie, Bonadona, Valérie, Bonanni, Bernardo, Bradbury, Angela R., Brewer, Carole, Buecher, Bruno, Buys, Saundra S., Caligo, Maria A., Chiquette, Jocelyne, Chung, Wendy K., Claes, Kathleen B. M., Daly, Mary B., Damiola, Francesca, Davidson, Rosemarie, De la Hoya, Miguel, De Leeneer, Kim, Diez, Orland, Ding, Yuan Chun, Dolcetti, Riccardo, Domchek, Susan M., Dorfling, Cecilia M., Eccles, Diana, Eeles, Ros, Einbeigi, Zakaria, Ejlertsen, Bent, Engel, Christoph, Gareth Evans, D., Feliubadalo, Lidia, Foretova, Lenka, Fostira, Florentia, Foulkes, William D., Fountzilas, George, Friedman, Eitan, Frost, Debra, Ganschow, Pamela, Ganz, Patricia A., Garber, Judy, Gayther, Simon A., Gerdes, Anne-Marie, Glendon, Gord, Godwin, Andrew K., Goldgar, David E., Greene, Mark H., Gronwald, Jacek, Hahnen, Eric, Hamann, Ute, Hansen, Thomas V. O., Hart, Steven, Hays, John L., Hogervorst, Frans B. L., Hulick, Peter J., Imyanitov, Evgeny N., Isaacs, Claudine, Izatt, Louise, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, John, Esther M., Joseph, Vijai, Just, Walter, Kaczmarek, Katarzyna, Karlan, Beth Y., Kets, Carolien M., Kirk, Judy, Kriege, Mieke, Laitman, Yael, Laurent, Maïté, Lazaro, Conxi, Leslie, Goska, Lester, Jenny, Lesueur, Fabienne, Liljegren, Annelie, Loman, Niklas, Loud, Jennifer T., Manoukian, Siranoush, Mariani, Milena, Mazoyer, Sylvie, McGuffog, Lesley, Meijers-Heijboer, Hanne E. J., Meindl, Alfons, Miller, Austin, Montagna, Marco, Mulligan, Anna Marie, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Nussbaum, Robert L., Olah, Edith, Olopade, Olufunmilayo I., Ong, Kai-ren, Oosterwijk, Jan C., Osorio, Ana, Papi, Laura, Park, Sue Kyung, Pedersen, Inge Sokilde, Peissel, Bernard, Segura, Pedro Perez, Peterlongo, Paolo, Phelan, Catherine M., Radice, Paolo, Rantala, Johanna, Rappaport-Fuerhauser, Christine, Rennert, Gad, Richardson, Andrea, Robson, Mark, Rodriguez, Gustavo C., Rookus, Matti A., Schmutzler, Rita Katharina, Sevenet, Nicolas, Shah, Payal D., Singer, Christian F., Slavin, Thomas P., Snape, Katie, Sokolowska, Johanna, Sønderstrup, Ida Marie Heeholm, Southey, Melissa, Spurdle, Amanda B., Stadler, Zsofia, Stoppa-Lyonnet, Dominique, Sukiennicki, Grzegorz, Sutter, Christian, Tan, Yen, Tea, Muy-Kheng, Teixeira, Manuel R., Teulé, Alex, Teo, Soo-Hwang, Terry, Mary Beth, Thomassen, Mads, Tihomirova, Laima, Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda Ewart, Tung, Nadine, van den Ouweland, Ans M. W., van der Luijt, Rob B., van Engelen, Klaartje, van Rensburg, Elizabeth J., Varon-Mateeva, Raymonda, Wappenschmidt, Barbara, Wijnen, Juul T., Rebbeck, Timothy, Chenevix-Trench, Georgia, Offit, Kenneth, Couch, Fergus J., Nord, Silje, Easton, Douglas F., Antoniou, Antonis C., Simard, Jacques
Publicado 2016