A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer Patients
Feliubadaló, Lidia, Moles-Fernández, Alejandro, Santamariña-Pena, Marta, Sánchez, Alysson T, López-Novo, Anael, Porras, Luz-Marina, Blanco, Ana, Capellá, Gabriel, de la Hoya, Miguel, Molina, Ignacio J, Osorio, Ana, Pineda, Marta, Rueda, Daniel, de la Cruz, Xavier, Diez, Orland, Ruiz-Ponte, Clara, Gutiérrez-Enríquez, Sara, Vega, Ana, Lázaro, Conxi
Published in Clinical chemistry (Baltimore, Md.) (01.03.2021)
Published in Clinical chemistry (Baltimore, Md.) (01.03.2021)
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A New Set of in Silico Tools to Support the Interpretation of ATM Missense Variants Using Graphical Analysis
Porras, Luz-Marina, Padilla, Natàlia, Moles-Fernández, Alejandro, Feliubadaló, Lidia, Santamariña-Pena, Marta, Sánchez, Alysson T, López-Novo, Anael, Blanco, Ana, de la Hoya, Miguel, Molina, Ignacio J, Osorio, Ana, Pineda, Marta, Rueda, Daniel, Ruiz-Ponte, Clara, Vega, Ana, Lázaro, Conxi, Díez, Orland, Gutiérrez-Enríquez, Sara, de la Cruz, Xavier
Published in The Journal of molecular diagnostics : JMD (01.01.2024)
Published in The Journal of molecular diagnostics : JMD (01.01.2024)
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First international workshop of the ATM and cancer risk group (4-5 December 2019)
Lesueur, Fabienne, Easton, Douglas F., Renault, Anne-Laure, Tavtigian, Sean V., Bernstein, Jonine L., Kote-Jarai, Zsofia, Eeles, Rosalind A., Plaseska-Karanfia, Dijana, Feliubadaló, Lidia, Arun, Banu, Herold, Natalie, Versmold, Beatrix, Schmutzler, Rita Katharina, Nguyen-Dumont, Tú, Southey, Melissa C., Dorling, Leila, Dunning, Alison M., Ghiorzo, Paola, Dalmasso, Bruna Samia, Cavaciuti, Eve, Le Gal, Dorothée, Roberts, Nicholas J., Dominguez-Valentin, Mev, Rookus, Matti, Taylor, Alexander M. R., Goldstein, Alisa M., Goldgar, David E., Stoppa-Lyonnet, Dominique, Andrieu, Nadine
Published in Familial cancer (01.04.2022)
Published in Familial cancer (01.04.2022)
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BRCA1 Circos: a visualisation resource for functional analysis of missense variants
Jhuraney, Ankita, Velkova, Aneliya, Johnson, Randall C, Kessing, Bailey, Carvalho, Renato S, Whiley, Phillip, Spurdle, Amanda B, Vreeswijk, Maaike P G, Caputo, Sandrine M, Millot, Gael A, Vega, Ana, Coquelle, Nicolas, Galli, Alvaro, Eccles, Diana, Blok, Marinus J, Pal, Tuya, van der Luijt, Rob B, Santamariña Pena, Marta, Neuhausen, Susan L, Donenberg, Talia, Machackova, Eva, Thomas, Simon, Vallée, Maxime, Couch, Fergus J, Tavtigian, Sean V, Glover, J N Mark, Carvalho, Marcelo A, Brody, Lawrence C, Sharan, Shyam K, Monteiro, Alvaro N
Published in Journal of medical genetics (01.04.2015)
Published in Journal of medical genetics (01.04.2015)
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Abstract 1859: Bioinformatic and experimental evaluation of regulatory variants in breast cancer susceptibility genes
Sevcik, Jan, Burke, Leslie, Gambino, Gaetana, Brewster, Brooke L., Tudini, Emma, Whiley, Philip J., Manoukian, Siranoush, van Overeem Hansen, Thomas, Santamariña Pena, Marta, Vega, Ana, Caligo, Maria A., Radice, Paolo, Peterlongo, Paolo, Rouleau, Etienne, Spurdle, Amanda B., Brown, Melissa A.
Published in Cancer research (Chicago, Ill.) (15.07.2016)
Published in Cancer research (Chicago, Ill.) (15.07.2016)
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