Browsing by Author Tavtigian, Sean V.
Showing results 1 to 4 of 4
| Issue Date | Title | Author(s) |
|---|---|---|
| 20-Dec-2013 | Application of a 5-tiered scheme for standardized classification of 2,360 Unique mismatch repair gene variants in the InSiGHT locus-specific database | Thompson, Bryony A.; Spurdle, Amanda B.; Plazzer, John-Paul; Greenblatt, Marc S.; Akagi, Kiwamu; Al-Mulla, Fahd; Bapat, Bharati; Bernstein, Inge; Capellá, G. (Gabriel); Dunnen, Johan T. den; Sart, Desiree du; Fabre, Aurelie; Farrell, Michael P.; Farrington, Susan M.; Frayling, Ian M.; Frebourg, Thierry; Goldgar, David E.; Heinen, Christopher D.; Holinski-Feder, Elke; Kohonen-Corish, Maija; Lagerstedt Robinson, Kristina; Leung, Suet Yi; Martins, Alexandra; Møller, Pål; Morak, Monika; Nystrom, Minna; Peltomäki, Päivi; Pineda Riu, Marta; Qi, Ming; Ramesar, Rajkumar; Rasmussen, Lene Juel; Royer-Pokora, Brigitte; Scott, Rodney J.; Sijmons, Rolf; Tavtigian, Sean V.; Tops, Carli M.; Weber, Thomas; Wijnen, Juul; Woods, Michael O.; Macrae, Finlay; Genuardi, Maurizio; InSiGHT |
| 1-Feb-2024 | Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel | Spier, Isabel; Yin, Xiaoyu; Richardson, Marcy; Pineda, Marta; Laner, Andreas; Ritter, Deborah; Boyle, Julie; Mur, Pilar; Hansen, Thomas V O.; Shi, Xuemei; Mahmood, Khalid; Plazzer, John-paul; Ognedal, Elisabet; Nordling, Margareta; Farrington, Susan M.; Yamamoto, Gou; Baert-Desurmont, Stéphanie; Martins, Alexandra; Borras, Ester; Tops, Carli; Webb, Erica; Beshay, Victoria; Genuardi, Maurizio; Pesaran, Tina; Capellá, Gabriel; Tavtigian, Sean V.; Latchford, Andrew; Frayling, Ian M.; Plon, Sharon E.; Greenblatt, Marc; Macrae, Finlay A.; Aretz, Stefan |
| 1-Apr-2019 | Genetic predisposition to colorectal cancer: syndromes, genes, classification of genetic variants and implications for precision medicine | Valle, Laura; Vilar, Eduardo; Tavtigian, Sean V.; Stoffel, Elena |
| 1-Sep-2019 | Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification | Parsons, Michael T.; Tudini, Emma; Li, Hongyan; Hahnen, Eric; Wappenschmidt, Barbara; Feliubadaló i Elorza, Maria Lídia; Aalfs, Cora M.; Agata, Simona; Aittomäki, Kristiina; Alducci, Elisa; Alonso Cerezo, María Concepción; Hauke, Jan; Heinrich, Tilman; Törngren, Therese; Hellebrand, Heide; Arnold, Norbert; Seggewiß, Jochen; Caldés, Trinidad; Herold, Karen N.; Honisch, Ellen; Naldi, Nadia; Witzel, Isabell; Walters, Rhiannon J.; Rump, Andreas; Horvath, Judit; Poplawski, Nicola K.; Velasco, Àngela; Houdayer, Claude; Brunet, Joan; Cini, Giulia; Hübbel, Verena; Iglesias, Silvia; Wöckel, Achim; Steinemann, Doris; Izquierdo, Angel; Barbieri, Elena; Wang Gohrke, Shan; James, Paul A.; Carnevali, Ileana; Torres Esquius, Sara; Janssen, Linda A.M.; Jeschke, Udo; Kruse, Torben A.; Kölbl, Alexandra; Ledig, Susanne; Cops, Elisa J.; Vesper, Anne Sophie; Kaulfuß, Silke; Porfirio, Berardino; Auber, Bernd; Weber, Bernhard H. F.; Leinert, Elena; Rofes, Paula; Bruzzone, Carla; Woodward, Emma R.; Matricardi, Laura; Solanes, Ares; Carrasco, Estela; Mackelenbergh, Marion T.; Waha, Anke; Nathanson, Katherine L.; Tucker, Katherine M.; Bucksch, Karolin; Navarro, Matilde; Faust, Ulrike; Bonanni, Bernardo; González, Sara; Nevanlinna, Heli; Nichols, Cassandra B.; Cortesi, Laura; Wiesmüller, Lisa; Niederacher, Dieter; Vreeswijk, Maaike P. G.; Caux Moncoutier, Virginie; Nielsen, Henriette R.; Giesecke, Jutta; Hackmann, Karl; Azzollini, Jacopo; Ong, Kai Ren; Pachter, Nicholas; Galvao, Henrique C.R.; Couch, Fergus J.; Palmero, Edenir I.; Guerrieri Gonzaga, Aliana; Cagnoli, Giulia; Papi, Laura; Asperen, Christi J.; Pohl Rescigno, Esther; Ramser, Juliane; Cavalli, Pietro; Pedersen, Inge Søkilde; Wagner, Sebastian A.; Felbor, Ute; Darder, Esther; Reis, Rui M.; Wieland, Kerstin; Gismondi, Viviana; Blümcke, Britta; Zachariae, Silke; Calvello, Mariarosaria; Stiller, Mathias; Bartram, Claus R.; Feroce, Irene; Stoppa Lyonnet, Dominique; Keupp, Katharina; Hoya, Miguel; Lucci Cordisco, Emanuela; Sullivan, Kelly J.; Susman, Rachel; Zampiga, Valentina; Guillaud Bataille, Marine; Concolino, Paola; Sutter, Christian; Caliebe, Almuth; Gómez, Carolina; Tavtigian, Sean V.; Lewis, Alexandra L.; Montagna, Marco; Teo, Soo H.; Teulé, Alex; Debatin, Irmgard; Thomassen, Mads; Kvist, Anders; Gutiérrez Enríquez, Sara; Tibiletti, Maria Grazia; Meindl, Alfons; Fine, Miriam; Tischkowitz, Marc; Blanco, Ana; Toss, Angela; Varesco, Liliana; Montes, Eva; Garcia, Encarna B.; Tognazzo, Silvia; Caligo, Maria A.; Kiechle, Marion; Haaf, Thomas; Vargas Parra, Gardenía María; Clarke, Edward M.; Lim, Joanna; Bonache, Sandra; Dean, Michael; Michelli, Rodrigo D.; Gensini, Francesca; Gross, Eva; Zeder Göß, Christine; Gambino, Gaetana; Loeffler, Markus; Investigators, Kconfab; Peissel, Bernard; Rivera, Daniela; Lázaro García, Conxi; Nicolo, Arcangela; Mori, Luigi; Harris, Marion; Radice, Paolo; Grau Garcés, Èlia; Moghadasi, Setareh; Engel, Christoph; Revillion, Françoise; Krieger, Sophie; Schmutzler, Rita K.; Goldgar, David E.; Balmaña, Judith; Austin, Rachel; Borg, Åke; Salinas, Monica; López Fernández, Adrià; Spurdle, Amanda B.; Gehrig, Andrea; Capone, Gabriele L.; Moles Fernández, Alejandro; Bortesi, Beatrice; Grill, Sabine; Pérez Segura, Pedro; Moserle, Lidia; Caputo, Sandrine M.; Hansen, Thomas V.O.; Rhiem, Kerstin; Lattimore, Vanessa L.; Marabelli, Monica; Del Valle, Jesús; Lalloo, Fiona; Pfeifer, Katharina; Delnatte, Capucine; Toland, Amanda E.; Müller, Clemens R.; Viel, Alessandra; Derive, Nicolas; Diez, Orland; Sánchez de Abajo, Ana María; Monteiro, Alvaro N.; Ditsch, Nina; Maass, Nicolai; Riboli, Barbara; Domchek, Susan M.; Varon-Mateeva, Raymonda; Weichert, Wilko; Dutrannoy, Véronique; Eccles, Diana; Ehrencrona, Hans; Trainer, Alison H.; Schmidt, Gunnar; Enders, Ute; Walker, Logan C.; Pineda Riu, Marta; Evans, D. Gareth; Larsen, Mirjam; Foulkes, William D.; Gerdes, Anne Marie; Ritter, Julia; Farra, Chantal; Manoukian, Siranoush; Tornero, Eva; Schoenwiese, Ulrike; Germani, Aldo; Montalban, Gemma; Vega, Ana; Lautrup, Charlotte; Mundhenke, Christoph; Quante, Anne S. |