Rezultati - Guidugli, Lucia

BRCA2 localization to the midbody by Filamin A regulates CEP55 signaling and completion of cytokinesis od Mondal, Gourish, Rowley, Matthew, Guidugli, Lucia, Wu, Jianmin, Pankratz, Vernon S., Couch, Fergus J.

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Effects on human transcriptome of mutated BRCA1 BRCT domain: A microarray study od Iofrida, Caterina, Melissari, Erika, Mariotti, Veronica, Guglielmi, Chiara, Guidugli, Lucia, Caligo, Maria Adelaide, Pellegrini, Silvia

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To Be or No B2: A Rare Cause of Stridor and Weakness in a Toddler od Frederick, Aliya L., Yang, Jennifer H., Schneider, Sarah, Quade, Alexis, Guidugli, Lucia, Wigby, Kristen, Cameron, Melissa

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A review of a multifactorial probability based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS) od Lindor, Noralane M., Guidugli, Lucia, Wang, Xianshu, Vallée, Maxime P., Monteiro, Alvaro N.A., Tavtigian, Sean, Goldgar, David E., Couch, Fergus J.

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A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings od Li, Zejuan, Schonberg, Rhonda, Guidugli, Lucia, Johnson, Amy Knight, Arnovitz, Stephen, Yang, Sandra, Scafidi, Joseph, Summar, Marshall L, Vezina, Gilbert, Das, Soma, Chapman, Kimberly, del Gaudio, Daniela

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Functional assays for analysis of variants of uncertain significance in BRCA2 od Guidugli, Lucia, Carreira, Aura, Caputo, Sandrine M., Ehlen, Asa, Galli, Alvaro, Monteiro, Alvaro N.A., Neuhausen, Susan L., Hansen, Thomas V.O., Couch, Fergus J., Vreeswijk, Maaike P.G.

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Detection of structural variation using target captured next-generation sequencing data for genetic diagnostic testing od Mu, Wenbo, Li, Bing, Wu, Sitao, Chen, Jefferey, Sain, Divya, Xu, Dong, Black, Mary Helen, Karam, Rachid, Gillespie, Katrina, Farwell Hagman, Kelly D., Guidugli, Lucia, Pronold, Melissa, Elliott, Aaron, Lu, Hsiao-Mei

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Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches od Guidugli, Lucia, Shimelis, Hermela, Masica, David L., Pankratz, Vernon S., Lipton, Gary B., Singh, Namit, Hu, Chunling, Monteiro, Alvaro N.A., Lindor, Noralane M., Goldgar, David E., Karchin, Rachel, Iversen, Edwin S., Couch, Fergus J.

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A classification model for BRCA2 DNA binding domain missense variants based on homology directed repair activity od Guidugli, Lucia, Pankratz, V. Shane, Singh, Namit, Thompson, James, Erding, Catherine A, Engel, Christoph, Schmutzler, Rita, Domchek, Susan, Nathanson, Katherine, Radice, Paolo, Singer, Christian, Tonin, Patricia N., Lindor, Noralane M., Goldgar, David E., Couch, Fergus J.

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Splicing and Multifactorial Analysis of Intronic BRCA1 and BRCA2 Sequence Variants Identifies Clinically Significant Splicing Aberrations up to 12 Nucleotides from the Intron/Exon... od Whiley, Phillip J., Guidugli, Lucia, Walker, Logan C., Healey, Sue, Thompson, Bryony A., Lakhani, Sunil R., Da Silva, Leonard M., Tavtigian, Sean V., Goldgar, David E., Brown, Melissa A., Couch, Fergus J., Spurdle1, Amanda B.

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Exome sequencing and targeted analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes od Sun, Miao, Johnson, Amy Knight, Nelakuditi, Viswateja, Guidugli, Lucia, Fischer, David, Arndt, Kelly, Ma, Lan, Sandford, Erin, Shakkottai, Vikram, Boycott, Kym, Chardon, Jodi Warman, Li, Zejuan, del Gaudio, Daniela, Burmeister, Margit, Waggoner, Darrel J., Gomez, Christopher M., Das, Soma

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Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer od Maxwell, Kara N., Hart, Steven N., Vijai, Joseph, Schrader, Kasmintan A., Slavin, Thomas P., Thomas, Tinu, Wubbenhorst, Bradley, Ravichandran, Vignesh, Moore, Raymond M., Hu, Chunling, Guidugli, Lucia, Wenz, Brandon, Domchek, Susan M., Robson, Mark E., Szabo, Csilla, Neuhausen, Susan L., Weitzel, Jeffrey N., Offit, Kenneth, Couch, Fergus J., Nathanson, Katherine L.

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Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases od De La Vega, Francisco M., Chowdhury, Shimul, Moore, Barry, Frise, Erwin, McCarthy, Jeanette, Hernandez, Edgar Javier, Wong, Terence, James, Kiely, Guidugli, Lucia, Agrawal, Pankaj B., Genetti, Casie A., Brownstein, Catherine A., Beggs, Alan H., Löscher, Britt-Sabina, Franke, Andre, Boone, Braden, Levy, Shawn E., Õunap, Katrin, Pajusalu, Sander, Huentelman, Matt, Ramsey, Keri, Naymik, Marcus, Narayanan, Vinodh, Veeraraghavan, Narayanan, Billings, Paul, Reese, Martin G., Yandell, Mark, Kingsmore, Stephen F.

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BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk od Spurdle, Amanda B, Whiley, Phillip J, Thompson, Bryony, Feng, Bingjian, Healey, Sue, Brown, Melissa A, Pettigrew, Christopher, kConFab, Van Asperen, Christi J, Ausems, Margreet G E M, Kattentidt-Mouravieva, Anna A, van den Ouweland, Ans M W, Lindblom, Annika, Pigg, Maritta H, Schmutzler, Rita K, Engel, Christoph, Meindl, Alfons, Caputo, Sandrine, Sinilnikova, Olga M, Lidereau, Rosette, Couch, Fergus J, Guidugli, Lucia, Hansen, Thomas van Overeem, Thomassen, Mads, Eccles, Diana M, Tucker, Kathy, Benitez, Javier, Domchek, Susan M, Toland, Amanda E, Van Rensburg, Elizabeth J, Wappenschmidt, Barbara, Borg, Åke, Vreeswijk, Maaike P G, Goldgar, David E

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Inherited Mutations in 17 Breast Cancer Susceptibility Genes Among a Large Triple-Negative Breast Cancer Cohort Unselected for Family History of Breast Cancer od Couch, Fergus J., Hart, Steven N., Sharma, Priyanka, Toland, Amanda Ewart, Wang, Xianshu, Miron, Penelope, Olson, Janet E., Godwin, Andrew K., Pankratz, V. Shane, Olswold, Curtis, Slettedahl, Seth, Hallberg, Emily, Guidugli, Lucia, Davila, Jaime I., Beckmann, Matthias W., Janni, Wolfgang, Rack, Brigitte, Ekici, Arif B., Slamon, Dennis J., Konstantopoulou, Irene, Fostira, Florentia, Vratimos, Athanassios, Fountzilas, George, Pelttari, Liisa M., Tapper, William J., Durcan, Lorraine, Cross, Simon S., Pilarski, Robert, Shapiro, Charles L., Klemp, Jennifer, Yao, Song, Garber, Judy, Cox, Angela, Brauch, Hiltrud, Ambrosone, Christine, Nevanlinna, Heli, Yannoukakos, Drakoulis, Slager, Susan L., Vachon, Celine M., Eccles, Diana M., Fasching, Peter A.

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Comparison of mRNA Splicing Assay Protocols across Multiple Laboratories: Recommendations for Best Practice in Standardized Clinical Testing od Whiley, Phillip J., de la Hoya, Miguel, Thomassen, Mads, Becker, Alexandra, Brandão, Rita, Pedersen, Inge Sokilde, Montagna, Marco, Menéndez, Mireia, Quiles, Francisco, Gutiérrez-Enríquez, Sara, De Leeneer, Kim, Tenés, Anna, Montalban, Gemma, Tserpelis, Demis, Yoshimatsu, Toshio, Tirapo, Carole, Raponi, Michela, Caldes, Trinidad, Blanco, Ana, Santamariña, Marta, Guidugli, Lucia, de Garibay, Gorka Ruiz, Wong, Ming, Tancredi, Mariella, Fachal, Laura, Ding, Yuan Chun, Kruse, Torben, Lattimore, Vanessa, Kwong, Ava, Chan, Tsun Leung, Colombo, Mara, De Vecchi, Giovanni, Caligo, Maria, Baralle, Diana, Lázaro, Conxi, Couch, Fergus, Radice, Paolo, Southey, Melissa C., Neuhausen, Susan, Houdayer, Claude, Fackenthal, Jim, Van Overeem Hansen, Thomas, Vega, Ana, Diez, Orland, Blok, Rien, Claes, Kathleen, Wappenschmidt, Barbara, Walker, Logan, Spurdle, Amanda B., Brown, Melissa A.

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An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases od Owen, Mallory J., Lefebvre, Sebastien, Hansen, Christian, Kunard, Chris M., Dimmock, David P., Smith, Laurie D., Scharer, Gunter, Mardach, Rebecca, Willis, Mary J., Feigenbaum, Annette, Niemi, Anna-Kaisa, Ding, Yan, Van Der Kraan, Luca, Ellsworth, Katarzyna, Guidugli, Lucia, Lajoie, Bryan R., McPhail, Timothy K., Mehtalia, Shyamal S., Chau, Kevin K., Kwon, Yong H., Zhu, Zhanyang, Batalov, Sergey, Chowdhury, Shimul, Rego, Seema, Perry, James, Speziale, Mark, Nespeca, Mark, Wright, Meredith S., Reese, Martin G., De La Vega, Francisco M., Azure, Joe, Frise, Erwin, Rigby, Charlene Son, White, Sandy, Hobbs, Charlotte A., Gilmer, Sheldon, Knight, Gail, Oriol, Albert, Lenberg, Jerica, Nahas, Shareef A., Perofsky, Kate, Kim, Kyu, Carroll, Jeanne, Coufal, Nicole G., Sanford, Erica, Wigby, Kristen, Weir, Jacqueline, Thomson, Vicki S., Fraser, Louise, Lazare, Seka S., Shin, Yoon H., Grunenwald, Haiying, Lee, Richard, Jones, David, Tran, Duke, Gross, Andrew, Daigle, Patrick, Case, Anne, Lue, Marisa, Richardson, James A., Reynders, John, Defay, Thomas, Hall, Kevin P., Veeraraghavan, Narayanan, Kingsmore, Stephen F.

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BRCA2 hypomorphic missense variants confer moderate risks of breast cancer od Shimelis, Hermela, Mesman, Romy L.S., Von Nicolai, Catharina, Ehlen, Asa, Guidugli, Lucia, Martin, Charlotte, Calléja, Fabienne M.G.R., Meeks, Huong, Hallberg, Emily, Hinton, Jamie, Lilyquist, Jenna, Hu, Chunling, Aalfs, Cora M., Aittomäki, Kristiina, Andrulis, Irene, Anton-Culver, Hoda, Arndt, Volker, Beckmann, Matthias W., Benitez, Javier, Bogdanova, Natalia V., Bojesen, Stig E., Bolla, Manjeet K., Borresen-Dale, Anne-Lise, Brauch, Hiltrud, Brennan, Paul, Brenner, Hermann, Broeks, Annegien, Brouwers, Barbara, Brüning, Thomas, Burwinkel, Barbara, Chang-Claude, Jenny, Chenevix-Trench, Georgia, Cheng, Ching-Yu, Choi, Ji-Yeob, Collée, Margriet, Cox, Angela, Cross, Simon S., Czene, Kamila, Darabi, Hatef, Dennis, Joe, Dörk, Thilo, dos-Santos-Silva, Isabel, Dunning, Alison M., Fasching, Peter A., Figueroa, Jonine, Flyger, Henrik, García-Closas, Montserrat, Giles, Graham G., Glendon, Gord, Guénel, Pascal, Haiman, Christopher A., Hall, Per, Hamann, Ute, Hartman, Mikael, Hogervorst, Frans B., Hollestelle, Antoinette, Hopper, John L., Ito, Hidemi, Jakubowska, Anna, Kang, Daehee, Kosma, Veli-Matti, Kristensen, Vessela, Collaborators, for NBCS, Lai, Kah-Nyin, Lambrechts, Diether, Le Marchand, Loic, Li, Jingmei, Lindblom, Annika, Lophatananon, Artitaya, Lubinski, Jan, Machackova, Eva, Mannermaa, Arto, Margolin, Sara, Marme, Frederik, Matsuo, Keitaro, Miao, Hui, Michailidou, Kyriaki, Milne, Roger L., Muir, Kenneth, Neuhausen, Susan L., Nevanlinna, Heli, Olson, Janet E., Olswold, Curtis, Oosterwijk, Jan J.C., Osorio, Ana, Peterlongo, Paolo, Peto, Julian, Pharoah, Paul D.P., Pylkäs, Katri, Radice, Paolo, Rashid, Muhammad Usman, Rhenius, Valerie, Rudolph, Anja, Sangrajrang, Suleeporn, Sawyer, Elinor J., Schmidt, Marjanka K., Schoemaker, Minouk J., Seynaeve, Caroline, Shah, Mitul, Shen, Chen-Yang, Shrubsole, Martha, Shu, Xiao-Ou, Slager, Susan, Southey, Melissa C., Stram, Daniel O., Swerdlow, Anthony, Teo, Soo H., Tomlinson, Ian, Torres, Diana, Truong, Thérèse, van Asperen, Christi J., van der Kolk, Lizet E., Wang, Qin, Winqvist, Robert, Wu, Anna H., Yu, Jyh-Cherng, Zheng, Wei, Zheng, Ying, Leary, Jennifer, Walker, Logan, Foretova, Lenka, Fostira, Florentia, Claes, Kathleen B.M., Varesco, Liliana, Moghadasi, Setareh, Easton, Douglas F., Spurdle, Amanda, Devilee, Peter, Vrieling, Harry, Monteiro, Alvaro N.A., Goldgar, David E., Carreira, Aura, Vreeswijk, Maaike P.G., Couch, Fergus J.

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A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor–negative breast cancer in the general population od Antoniou, Antonis C, Wang, Xianshu, Fredericksen, Zachary S, McGuffog, Lesley, Tarrell, Robert, Sinilnikova, Olga M, Healey, Sue, Morrison, Jonathan, Kartsonaki, Christiana, Lesnick, Timothy, Ghoussaini, Maya, Barrowdale, Daniel, Peock, Susan, Cook, Margaret, Oliver, Clare, Frost, Debra, Eccles, Diana, Evans, D Gareth, Eeles, Ros, Izatt, Louise, Chu, Carol, Douglas, Fiona, Paterson, Joan, Stoppa-Lyonnet, Dominique, Houdayer, Claude, Mazoyer, Sylvie, Giraud, Sophie, Lasset, Christine, Remenieras, Audrey, Caron, Olivier, Hardouin, Agnès, Berthet, Pascaline, Hogervorst, Frans B L, Rookus, Matti A, Jager, Agnes, van den Ouweland, Ans, Hoogerbrugge, Nicoline, van der Luijt, Rob B, Meijers-Heijboer, Hanne, García, Encarna B Gómez, Devilee, Peter, Vreeswijk, Maaike P G, Lubinski, Jan, Jakubowska, Anna, Gronwald, Jacek, Huzarski, Tomasz, Byrski, Tomasz, Górski, Bohdan, Cybulski, Cezary, Spurdle, Amanda B, Holland, Helene, Goldgar, David E, John, Esther M, Hopper, John L, Southey, Melissa, Buys, Saundra S, Daly, Mary B, Terry, Mary-Beth, Schmutzler, Rita K, Wappenschmidt, Barbara, Engel, Christoph, Meindl, Alfons, Preisler-Adams, Sabine, Arnold, Norbert, Niederacher, Dieter, Sutter, Christian, Domchek, Susan M, Nathanson, Katherine L, Rebbeck, Timothy, Blum, Joanne L, Piedmonte, Marion, Rodriguez, Gustavo C, Wakeley, Katie, Boggess, John F, Basil, Jack, Blank, Stephanie V, Friedman, Eitan, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Andrulis, Irene L, Glendon, Gord, Ozcelik, Hilmi, Kirchhoff, Tomas, Vijai, Joseph, Gaudet, Mia M, Altshuler, David, Guiducci, Candace, Loman, Niklas, Harbst, Katja, Rantala, Johanna, Ehrencrona, Hans, Gerdes, Anne-Marie, Thomassen, Mads, Sunde, Lone, Peterlongo, Paolo, Manoukian, Siranoush, Bonanni, Bernardo, Viel, Alessandra, Radice, Paolo, Caldes, Trinidad, de la Hoya, Miguel, Singer, Christian F, Fink-Retter, Anneliese, Greene, Mark H, Mai, Phuong L, Loud, Jennifer T, Guidugli, Lucia, Lindor, Noralane M, Hansen, Thomas V O, Nielsen, Finn C, Blanco, Ignacio, Lazaro, Conxi, Garber, Judy, Ramus, Susan J, Gayther, Simon A, Phelan, Catherine, Narod, Stephen, Szabo, Csilla I, Benitez, Javier, Osorio, Ana, Nevanlinna, Heli, Heikkinen, Tuomas, Caligo, Maria A, Beattie, Mary S, Hamann, Ute, Godwin, Andrew K, Montagna, Marco, Casella, Cinzia, Neuhausen, Susan L, Karlan, Beth Y, Tung, Nadine, Toland, Amanda E, Weitzel, Jeffrey, Olopade, Olofunmilayo, Simard, Jacques, Soucy, Penny, Rubinstein, Wendy S, Arason, Adalgeir, Rennert, Gad, Martin, Nicholas G, Montgomery, Grant W, Chang-Claude, Jenny, Flesch-Janys, Dieter, Brauch, Hiltrud, Severi, Gianluca, Baglietto, Laura, Cox, Angela, Cross, Simon S, Miron, Penelope, Gerty, Sue M, Tapper, William, Yannoukakos, Drakoulis, Fountzilas, George, Fasching, Peter A, Beckmann, Matthias W, Silva, Isabel dos Santos, Peto, Julian, Lambrechts, Diether, Paridaens, Robert, Rüdiger, Thomas, Försti, Asta, Winqvist, Robert, Pylkäs, Katri, Diasio, Robert B, Lee, Adam M, Eckel-Passow, Jeanette, Vachon, Celine, Blows, Fiona, Driver, Kristy, Dunning, Alison, Pharoah, Paul P D, Offit, Kenneth, Pankratz, V Shane, Hakonarson, Hakon, Chenevix-Trench, Georgia, Easton, Douglas F, Couch, Fergus J

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DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers od Osorio, Ana, Milne, Roger L., Kuchenbaecker, Karoline, Vaclová, Tereza, Pita, Guillermo, Alonso, Rosario, Peterlongo, Paolo, Blanco, Ignacio, de la Hoya, Miguel, Duran, Mercedes, Díez, Orland, Ramón y Cajal, Teresa, Konstantopoulou, Irene, Martínez-Bouzas, Cristina, Andrés Conejero, Raquel, Soucy, Penny, McGuffog, Lesley, Barrowdale, Daniel, Lee, Andrew, Arver, Brita, Rantala, Johanna, Loman, Niklas, Ehrencrona, Hans, Olopade, Olufunmilayo I., Beattie, Mary S., Domchek, Susan M., Nathanson, Katherine, Rebbeck, Timothy R., Arun, Banu K., Karlan, Beth Y., Walsh, Christine, Lester, Jenny, John, Esther M., Whittemore, Alice S., Daly, Mary B., Southey, Melissa, Hopper, John, Terry, Mary B., Buys, Saundra S., Janavicius, Ramunas, Dorfling, Cecilia M., van Rensburg, Elizabeth J., Steele, Linda, Neuhausen, Susan L., Ding, Yuan Chun, Hansen, Thomas v. O., Jønson, Lars, Ejlertsen, Bent, Gerdes, Anne-Marie, Infante, Mar, Herráez, Belén, Moreno, Leticia Thais, Weitzel, Jeffrey N., Herzog, Josef, Weeman, Kisa, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Scuvera, Giulietta, Bonanni, Bernardo, Mariette, Frederique, Volorio, Sara, Viel, Alessandra, Varesco, Liliana, Papi, Laura, Ottini, Laura, Tibiletti, Maria Grazia, Radice, Paolo, Yannoukakos, Drakoulis, Garber, Judy, Ellis, Steve, Frost, Debra, Platte, Radka, Fineberg, Elena, Evans, Gareth, Lalloo, Fiona, Izatt, Louise, Eeles, Ros, Adlard, Julian, Davidson, Rosemarie, Cole, Trevor, Eccles, Diana, Cook, Jackie, Hodgson, Shirley, Brewer, Carole, Tischkowitz, Marc, Douglas, Fiona, Porteous, Mary, Side, Lucy, Walker, Lisa, Morrison, Patrick, Donaldson, Alan, Kennedy, John, Foo, Claire, Godwin, Andrew K., Schmutzler, Rita Katharina, Wappenschmidt, Barbara, Rhiem, Kerstin, Engel, Christoph, Meindl, Alfons, Ditsch, Nina, Arnold, Norbert, Plendl, Hans Jörg, Niederacher, Dieter, Sutter, Christian, Wang-Gohrke, Shan, Steinemann, Doris, Preisler-Adams, Sabine, Kast, Karin, Varon-Mateeva, Raymonda, Gehrig, Andrea, Stoppa-Lyonnet, Dominique, Sinilnikova, Olga M., Mazoyer, Sylvie, Damiola, Francesca, Poppe, Bruce, Claes, Kathleen, Piedmonte, Marion, Tucker, Kathy, Backes, Floor, Rodríguez, Gustavo, Brewster, Wendy, Wakeley, Katie, Rutherford, Thomas, Caldés, Trinidad, Nevanlinna, Heli, Aittomäki, Kristiina, Rookus, Matti A., van Os, Theo A. M., van der Kolk, Lizet, de Lange, J. L., Meijers-Heijboer, Hanne E. J., van der Hout, A. H., van Asperen, Christi J., Gómez Garcia, Encarna B., Hoogerbrugge, Nicoline, Collée, J. Margriet, van Deurzen, Carolien H. M., van der Luijt, Rob B., Devilee, Peter, Olah, Edith, Lázaro, Conxi, Teulé, Alex, Menéndez, Mireia, Jakubowska, Anna, Cybulski, Cezary, Gronwald, Jacek, Lubinski, Jan, Durda, Katarzyna, Jaworska-Bieniek, Katarzyna, Johannsson, Oskar Th., Maugard, Christine, Montagna, Marco, Tognazzo, Silvia, Teixeira, Manuel R., Healey, Sue, Olswold, Curtis, Guidugli, Lucia, Lindor, Noralane, Slager, Susan, Szabo, Csilla I., Vijai, Joseph, Robson, Mark, Kauff, Noah, Zhang, Liying, Rau-Murthy, Rohini, Fink-Retter, Anneliese, Singer, Christian F., Rappaport, Christine, Geschwantler Kaulich, Daphne, Pfeiler, Georg, Tea, Muy-Kheng, Berger, Andreas, Phelan, Catherine M., Greene, Mark H., Mai, Phuong L., Lejbkowicz, Flavio, Andrulis, Irene, Mulligan, Anna Marie, Glendon, Gord, Toland, Amanda Ewart, Bojesen, Anders, Pedersen, Inge Sokilde, Sunde, Lone, Thomassen, Mads, Kruse, Torben A., Jensen, Uffe Birk, Friedman, Eitan, Laitman, Yael, Shimon, Shani Paluch, Simard, Jacques, Easton, Douglas F., Offit, Kenneth, Couch, Fergus J., Chenevix-Trench, Georgia, Antoniou, Antonis C., Benitez, Javier

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