Browsing by Author Capellá, Gabriel
Showing results 1 to 4 of 4
| Issue Date | Title | Author(s) |
|---|---|---|
| 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-Nov-2024 | Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS | Yin, Xiaoyu; Richardson, Marcy; Laner, Andreas; Shi, Xuemei; Ognedal, Elisabet; Vasta, Valeria; Hansen, Thomas V.o.; Pineda, Marta; Ritter, Deborah; De Dunnen, Johan; Hassanin, Emadeldin; Lin, Wencong Lyman; Borras, Ester; Krahn, Karl; Nordling, Margareta; Martins, Alexandra; Mahmood, Khalid; Nadeau, Emily; Beshay, Victoria; Tops, Carli; Genuardi, Maurizio; Pesaran, Tina; Frayling, Ian M.; Capellá, Gabriel; Latchford, Andrew; Tavtigian, Sean V.; Maj, Carlo; Plon, Sharon E.; Greenblatt, Marc S.; Macrae, Finlay A.; Spier, Isabel; Aretz, Stefan |
| 17-Oct-2023 | Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1 | Mur, Pilar; Viana Errasti, Julen; García Mulero, Sandra; Magraner Pardo, Lorena; Muñoz, Inés G.; Pons, Tirso; Capellá, Gabriel; Pineda, Marta; Feliubadaló, Lidia; Valle, Laura |
| 1-Jan-2024 | SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population | Moreno Cabrera, José M.; Feliubadaló, Lidia; Pineda, Marta; Prada Dacasa, Patricia; Ramos Muntada, Mireia; Valle, Jesús del; Brunet, Joan; Gel Moreno, Bernat; Currás Freixes, María; Calsina, Bruna; Salazar Hidalgo, Milton E.; Rodríguez Balada, Marta; Roig, Bàrbara; Fernández Castillejo, Sara; Durán Domínguez, Mercedes; Arranz Ledo, Mónica; Infante Sanz, Mar; Castillejo, Adela; Dámaso, Estela; Soto, José L; Miguel, Montserrat de; Hidalgo Calero, Beatriz; Sánchez Zapardiel, José M.; Ramon y Cajal, Teresa; Lasa, Adriana; Gisbert Beamud, Alexandra; López Novo, Anael; Ruiz Ponte, Clara; Potrony Mateu, Míriam; Álvarez Mora, María I.; Osorio, Ana; Lorda Sánchez, Isabel; Robledo, Mercedes; Cascón, Alberto; Ruiz, Anna; Spataro, Nino; Hernan, Imma; Borràs, Emma; Moles Fernández, Alejandro; Earl, Julie; Cadiñanos, Juan; Sánchez Heras, Ana B.; Bigas, Anna; Capellá, Gabriel; Lázaro, Conxi |