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Hum Mutat
Human Mutation
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
Institut de Recerca Germans Trias i Pujol (IGTP)
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
RUNA. Repositorio da Consellería de Sanidade e Sergas
Servizo Galego de Saúde (SERGAS)
Dipòsit Digital de la UB
Universidad de Barcelona
instname
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
Parsons, M T, Tudini, E, Li, H, Hahnen, E, Wappenschmidt, B, Feliubadaló, L, Aalfs, C M, Agata, S, Aittomäki, K, Alducci, E, Alonso-Cerezo, M C, Arnold, N, Auber, B, Austin, R, Azzollini, J, Balmaña, J, Barbieri, E, Bartram, C R, Blanco, A, Blümcke, B, Bonache, S, Bonanni, B, Borg, Å, Bortesi, B, Brunet, J, Bruzzone, C, Bucksch, K, Cagnoli, G, Caldés, T, Caliebe, A, Caligo, M A, Calvello, M, Capone, G L, Caputo, S M, Carnevali, I, Carrasco, E, Caux-Moncoutier, V, Cavalli, P, Cini, G, Clarke, E M, Concolino, P, Cops, E J, Cortesi, L, Couch, F J, Darder, E, de la Hoya, M, Dean, M, Debatin, I, del Valle, J, Delnatte, C, Derive, N, Diez, O, Ditsch, N, Domchek, S M, Dutrannoy, V, Eccles, D M, Ehrencrona, H, Enders, U, Evans, D G, Faust, U, Felbor, U, Feroce, I, Fine, M, Galvao, H C R, Gambino, G, Gehrig, A, Gensini, F, Gerdes, A-M, Germani, A, Giesecke, J, Gismondi, V, Gómez, C, Gómez Garcia, E B, González, S, Grau, E, Grill, S, Gross, E, Guerrieri-Gonzaga, A, Guillaud-Bataille, M, Gutiérrez-Enríquez, S, Haaf, T, Hackmann, K, Hansen, T V O, Harris, M, Hauke, J, Heinrich, T, Hellebrand, H, Herold, K N, Honisch, E, Horvath, J, Houdayer, C, Hübbel, V, Iglesias, S, Izquierdo, A, James, P A, Janssen, L A M, Jeschke, U, Kaulfuß, S, Keupp, K, Kiechle, M, Kölbl, A, Krieger, S, Kruse, T A, Kvist, A, Lalloo, F, Larsen, M, Lattimore, V L, Lautrup, C, Ledig, S, Leinert, E, Lewis, A L, Lim, J, Loeffler, M, López-Fernández, A, Lucci-Cordisco, E, Maass, N, Manoukian, S, Marabelli, M, Matricardi, L, Meindl, A, Michelli, R D, Moghadasi, S, Moles-Fernández, A, Montagna, M, Montalban, G, Monteiro, A N, Montes, E, Mori, L, Moserle, L, Müller, C R, Mundhenke, C, Naldi, N, Nathanson, K L, Navarro, M, Nevanlinna, H, Nichols, C B, Niederacher, D, Nielsen, H R, Ong, K, Pachter, N, Palmero, E I, Papi, L, Pedersen, I S, Peissel, B, Pérez-Segura, P, Pfeifer, K, Pineda, M, Pohl-Rescigno, E, Poplawski, N K, Porfirio, B, Quante, A S, Ramser, J, Rei, R M, Revillion, F, Rhiem, K, Riboli, B, Ritter, J, Rivera, D, Rofes, P, Rump, A, Salinas, M, Sánchez de Abajo, A M, Schmidt, G, Schoenwiese, U, Seggewiß, J, Solanes, A, Steinemann, D, Stiller, M, Stoppa-Lyonnet, D, Sullivan, K J, Susman, R, Sutter, C, Tavtigian, S V, Teo, S H, Teulé, A, Thomassen, M, Tibiletti, M G, Tognazzo, S, Toland, A E, Tornero, E, Törngren, T, Torres-Esquius, S, Toss, A, Trainer, A H, van Asperen, C J, van Mackelenbergh, M T, Varesco, L, Vargas-Parra, G, Varon, R, Vega, A, Velasco, Á, Vesper, A-S, Viel, A, Vreeswijk, M P G, Wagner, S A, Waha, A, Walker, L C, Walters, R J, Wang-Gohrke, S, Weber, B H F, Weichert, W, Wieland, K, Wiesmüller, L, Witzel, I, Wöckel, A, Woodward, E R, Zachariae, S, Zampiga, V, Zeder-Göß, C, KConFab Investigators, Lázaro, C, De Nicolo, A, Radice, P, Engel, C, Schmutzler, R K, Goldgar, D E & Spurdle, A B 2019, 'Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants : An ENIGMA resource to support clinical variant classification', Human Mutation, vol. 40, no. 9, pp. 1557-1578. https://doi.org/10.1002/humu.23818
Parsons, M T, Tudini, E, Li, H, Hahnen, E, Wappenschmidt, B, Feliubadaló, L, Aalfs, C M, Agata, S, Aittomäki, K, Alducci, E, Alonso-Cerezo, M C, Arnold, N, Auber, B, Austin, R, Azzollini, J, Balmaña, J, Barbieri, E, Bartram, C R, Blanco, A, Blümcke, B, Bonache, S, Bonanni, B, Borg, Å, Bortesi, B, Brunet, J, Bruzzone, C, Bucksch, K, Cagnoli, G, Caldés, T, Caliebe, A, Caligo, M A, Calvello, M, Capone, G L, Caputo, S M, Carnevali, I, Carrasco, E, Caux-Moncoutier, V, Cavalli, P, Cini, G, Clarke, E M, Concolino, P, Cops, E J, Cortesi, L, Couch, F J, Darder, E, de la Hoya, M, Dean, M, Gerdes, A-M, Hansen, T V O, Wagner, S A & kConFab Investigators 2019, ' Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants : An ENIGMA resource to support clinical variant classification ', Human Mutation, vol. 40, no. 9, pp. 1557-1578 . https://doi.org/10.1002/humu.23818
Parsons, M T, Tudini, E, Li, H, Hahnen, E, Wappenschmidt, B, Feliubadaló, L, Aalfs, C M, Agata, S, Aittomäki, K, Alducci, E, Alonso-Cerezo, M C, Arnold, N, Auber, B, Austin, R, Azzollini, J, Balmaña, J, Barbieri, E, Bartram, C R, Blanco, A, Blümcke, B, Bonache, S, Bonanni, B, Borg, Å, Bortesi, B, Brunet, J, Bruzzone, C, Bucksch, K, Cagnoli, G, Caldés, T, Caliebe, A, Caligo, M A, Calvello, M, Capone, G L, Caputo, S M, Carnevali, I, Carrasco, E, Caux-Moncoutier, V, Cavalli, P, Cini, G, Clarke, E M, Concolino, P, Cops, E J, Cortesi, L, Couch, F J, Gerdes, A-M, Hansen, T V O, Kruse, T A, Nielsen, H R, Pedersen, I S, Lautrup, C K, Thomassen, M & kConFab Investigators 2019, ' Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants : An ENIGMA resource to support clinical variant classification ', Human Mutation, vol. 40, no. 9, pp. 1557-1578 . https://doi.org/10.1002/humu.23818
Evans, D G, Lalloo, F, Woodward, E & et al. 2019, 'Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification', Human Mutation. https://doi.org/10.1002/humu.23818
Human Mutation
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
Institut de Recerca Germans Trias i Pujol (IGTP)
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
RUNA. Repositorio da Consellería de Sanidade e Sergas
Servizo Galego de Saúde (SERGAS)
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Universidad de Barcelona
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Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
Parsons, M T, Tudini, E, Li, H, Hahnen, E, Wappenschmidt, B, Feliubadaló, L, Aalfs, C M, Agata, S, Aittomäki, K, Alducci, E, Alonso-Cerezo, M C, Arnold, N, Auber, B, Austin, R, Azzollini, J, Balmaña, J, Barbieri, E, Bartram, C R, Blanco, A, Blümcke, B, Bonache, S, Bonanni, B, Borg, Å, Bortesi, B, Brunet, J, Bruzzone, C, Bucksch, K, Cagnoli, G, Caldés, T, Caliebe, A, Caligo, M A, Calvello, M, Capone, G L, Caputo, S M, Carnevali, I, Carrasco, E, Caux-Moncoutier, V, Cavalli, P, Cini, G, Clarke, E M, Concolino, P, Cops, E J, Cortesi, L, Couch, F J, Darder, E, de la Hoya, M, Dean, M, Debatin, I, del Valle, J, Delnatte, C, Derive, N, Diez, O, Ditsch, N, Domchek, S M, Dutrannoy, V, Eccles, D M, Ehrencrona, H, Enders, U, Evans, D G, Faust, U, Felbor, U, Feroce, I, Fine, M, Galvao, H C R, Gambino, G, Gehrig, A, Gensini, F, Gerdes, A-M, Germani, A, Giesecke, J, Gismondi, V, Gómez, C, Gómez Garcia, E B, González, S, Grau, E, Grill, S, Gross, E, Guerrieri-Gonzaga, A, Guillaud-Bataille, M, Gutiérrez-Enríquez, S, Haaf, T, Hackmann, K, Hansen, T V O, Harris, M, Hauke, J, Heinrich, T, Hellebrand, H, Herold, K N, Honisch, E, Horvath, J, Houdayer, C, Hübbel, V, Iglesias, S, Izquierdo, A, James, P A, Janssen, L A M, Jeschke, U, Kaulfuß, S, Keupp, K, Kiechle, M, Kölbl, A, Krieger, S, Kruse, T A, Kvist, A, Lalloo, F, Larsen, M, Lattimore, V L, Lautrup, C, Ledig, S, Leinert, E, Lewis, A L, Lim, J, Loeffler, M, López-Fernández, A, Lucci-Cordisco, E, Maass, N, Manoukian, S, Marabelli, M, Matricardi, L, Meindl, A, Michelli, R D, Moghadasi, S, Moles-Fernández, A, Montagna, M, Montalban, G, Monteiro, A N, Montes, E, Mori, L, Moserle, L, Müller, C R, Mundhenke, C, Naldi, N, Nathanson, K L, Navarro, M, Nevanlinna, H, Nichols, C B, Niederacher, D, Nielsen, H R, Ong, K, Pachter, N, Palmero, E I, Papi, L, Pedersen, I S, Peissel, B, Pérez-Segura, P, Pfeifer, K, Pineda, M, Pohl-Rescigno, E, Poplawski, N K, Porfirio, B, Quante, A S, Ramser, J, Rei, R M, Revillion, F, Rhiem, K, Riboli, B, Ritter, J, Rivera, D, Rofes, P, Rump, A, Salinas, M, Sánchez de Abajo, A M, Schmidt, G, Schoenwiese, U, Seggewiß, J, Solanes, A, Steinemann, D, Stiller, M, Stoppa-Lyonnet, D, Sullivan, K J, Susman, R, Sutter, C, Tavtigian, S V, Teo, S H, Teulé, A, Thomassen, M, Tibiletti, M G, Tognazzo, S, Toland, A E, Tornero, E, Törngren, T, Torres-Esquius, S, Toss, A, Trainer, A H, van Asperen, C J, van Mackelenbergh, M T, Varesco, L, Vargas-Parra, G, Varon, R, Vega, A, Velasco, Á, Vesper, A-S, Viel, A, Vreeswijk, M P G, Wagner, S A, Waha, A, Walker, L C, Walters, R J, Wang-Gohrke, S, Weber, B H F, Weichert, W, Wieland, K, Wiesmüller, L, Witzel, I, Wöckel, A, Woodward, E R, Zachariae, S, Zampiga, V, Zeder-Göß, C, KConFab Investigators, Lázaro, C, De Nicolo, A, Radice, P, Engel, C, Schmutzler, R K, Goldgar, D E & Spurdle, A B 2019, 'Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants : An ENIGMA resource to support clinical variant classification', Human Mutation, vol. 40, no. 9, pp. 1557-1578. https://doi.org/10.1002/humu.23818
Parsons, M T, Tudini, E, Li, H, Hahnen, E, Wappenschmidt, B, Feliubadaló, L, Aalfs, C M, Agata, S, Aittomäki, K, Alducci, E, Alonso-Cerezo, M C, Arnold, N, Auber, B, Austin, R, Azzollini, J, Balmaña, J, Barbieri, E, Bartram, C R, Blanco, A, Blümcke, B, Bonache, S, Bonanni, B, Borg, Å, Bortesi, B, Brunet, J, Bruzzone, C, Bucksch, K, Cagnoli, G, Caldés, T, Caliebe, A, Caligo, M A, Calvello, M, Capone, G L, Caputo, S M, Carnevali, I, Carrasco, E, Caux-Moncoutier, V, Cavalli, P, Cini, G, Clarke, E M, Concolino, P, Cops, E J, Cortesi, L, Couch, F J, Darder, E, de la Hoya, M, Dean, M, Gerdes, A-M, Hansen, T V O, Wagner, S A & kConFab Investigators 2019, ' Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants : An ENIGMA resource to support clinical variant classification ', Human Mutation, vol. 40, no. 9, pp. 1557-1578 . https://doi.org/10.1002/humu.23818
Parsons, M T, Tudini, E, Li, H, Hahnen, E, Wappenschmidt, B, Feliubadaló, L, Aalfs, C M, Agata, S, Aittomäki, K, Alducci, E, Alonso-Cerezo, M C, Arnold, N, Auber, B, Austin, R, Azzollini, J, Balmaña, J, Barbieri, E, Bartram, C R, Blanco, A, Blümcke, B, Bonache, S, Bonanni, B, Borg, Å, Bortesi, B, Brunet, J, Bruzzone, C, Bucksch, K, Cagnoli, G, Caldés, T, Caliebe, A, Caligo, M A, Calvello, M, Capone, G L, Caputo, S M, Carnevali, I, Carrasco, E, Caux-Moncoutier, V, Cavalli, P, Cini, G, Clarke, E M, Concolino, P, Cops, E J, Cortesi, L, Couch, F J, Gerdes, A-M, Hansen, T V O, Kruse, T A, Nielsen, H R, Pedersen, I S, Lautrup, C K, Thomassen, M & kConFab Investigators 2019, ' Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants : An ENIGMA resource to support clinical variant classification ', Human Mutation, vol. 40, no. 9, pp. 1557-1578 . https://doi.org/10.1002/humu.23818
Evans, D G, Lalloo, F, Woodward, E & et al. 2019, 'Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification', Human Mutation. https://doi.org/10.1002/humu.23818
Academic Journal
Leslie J. Burke; Jan Sevcik; Gaetana Gambino; Emma Tudini; Eliseos J. Mucaki; Ben C. Shirley; Phillip Whiley; Michael T. Parsons; Kim De Leeneer; Sara Gutiérrez-Enríquez; Marta Santamariña; Sandrine M. Caputo; Elizabeth Santana dos Santos; Jana Soukupova; Marketa Janatova; Petra Zemankova; Klara Lhotova; Lenka Stolarova; Mariana Borecka; Alejandro Moles-Fernández; Siranoush Manoukian; Bernardo Bonanni; Stacey L. Edwards; Marinus J. Blok; Thomas van Overeem Hansen; Maria Rossing; Orland Diez; Ana Vega; Kathleen B.M. Claes; David E. Goldgar; Etienne Rouleau; Paolo Radice; Paolo Peterlongo; Peter K. Rogan; Maria Caligo; Amanda B. Spurdle; Melissa A. Brown
Hum Mutat
Biochemistry Publications
HUMAN MUTATION
Biochemistry Publications
HUMAN MUTATION
Academic Journal
Emma Tudini; Setareh Moghadasi; Michael T. Parsons; Lizet van der Kolk; Ans M. W. van den Ouweland; Dieter Niederacher; Lídia Feliubadaló; Barbara Wappenschmidt; Amanda B. Spurdle; Conxi Lazaro
Breast Cancer Research and Treatment. 172:497-503
Book
Clinical DNA Variant Interpretation ISBN: 9780128205198
Academic Journal
Genetics in Medicine. 25:100868
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