Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcripts

von Whiley, Phillip J, Pettigrew, Christopher A, Brewster, Brooke L, Walker, Logan C, Spurdle, Amanda B, Brown, Melissa A
Veröffentlicht 2010

Multifactorial Likelihood Assessment of BRCA1 and BRCA2 Missense Variants Confirms That BRCA1:c.122A>G(p.His41Arg) Is a Pathogenic Mutation

von Whiley, Phillip J., Parsons, Michael T., Leary, Jennifer, Tucker, Kathy, Warwick, Linda, Dopita, Belinda, Thorne, Heather, Lakhani, Sunil R., Goldgar, David E., Brown, Melissa A., Spurdle, Amanda B.
Veröffentlicht 2014

Consequences of germline variation disrupting the constitutional translational initiation codon start sites of MLH1 and BRCA2: use of potential alternative start sites and implicat...

von Parsons, Michael T., Whiley, Phillip J., Beesley, Jonathan, Drost, Mark, de Wind, Niels, Thompson, Bryony A., Marquart, Louise, Hopper, John L., Jenkins, Mark A., Brown, Melissa A., Tucker, Kathy, Warwick, Linda, Buchanan, Daniel D., Spurdle, Amanda B.
Veröffentlicht 2013

Splicing and Multifactorial Analysis of Intronic BRCA1 and BRCA2 Sequence Variants Identifies Clinically Significant Splicing Aberrations up to 12 Nucleotides from the Intron/Exon...

von 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.
Veröffentlicht in Hum Mutat (2011)

Detection of Splicing Aberrations Caused by BRCA1 and BRCA2 Sequence Variants Encoding Missense Substitutions: Implications for Prediction of Pathogenicity

von Walker, Logan C., Whiley, Phillip J., Couch, Fergus J., Farrugia, Daniel J., Healey, Sue, Eccles, Diana M., Lin, Feng, Butler, Samantha A., Goff, Sheila A., Thompson, Bryony A., Lakhani, Sunil R., Da Silva, Leonard M., Tavtigian, Sean V., Goldgar, David E., Brown, Melissa A., Spurdle, Amanda B.
Veröffentlicht 2010

BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk

von 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
Veröffentlicht 2012

Comparison of mRNA Splicing Assay Protocols across Multiple Laboratories: Recommendations for Best Practice in Standardized Clinical Testing

von 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.
Veröffentlicht in Clin Chem (2013)