Browse by all authors Browse By Author ID - Phillip Whiley

Browse Results (8 results found)

Subscribe to the RSS feed for this result setSubscribe to the RSS feed for this result set

Refine

  Abstract Views File Downloads Thomson Reuters Web of Science Citation Count Scopus Citation Count Altmetric Score
Whiley, Phillip J., De La Hoya, Miguel, Thomassen, Mads, Becker, Alexandra, Brandão, Rita, Sokilde Pedersen, Inge, 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, Ruiz de Garibay, Gorka, Wong, Ming, Tancredi, Mariella, Fachal, Laura, Chun Ding, Yuan, Kruse, Torben, Lattimore, Vanessa, Kwong, Ava, Leung Chan, Tsun, 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. and Brown, Melissa A. (2014) Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing. Clinical Chemistry, 60 2: 341-352. doi:10.1373/clinchem.2013.210658 37   5 Cited 6 times in Scopus6 1
Colombo, Mara, Blok, Marinus J., Whiley, Phillip, Santamarina, Marta, Gutierrez-Enriquez, Sara, Romero, Atocha, Garre, Pilar, Becker, Alexandra, Smith, Lindsay Denise, Vecchi, Giovanna De, Brandao, Rita D., Tserpelis, Demis, Brown, Melissa, Blanco, Ana, Bonache, Sandra, Menendez, Mireia, Houdayer, Claude, Foglia, Claudia, Fackenthal, James D., Baralle, Diana, Wappenschmidt, Barbara, Diaz-Rubio, Eduardo, Caldes, Trinidad, Walker, Logan, Diez, Orland, Vega, Ana, Spurdle, Amanda B., Radice, Paolo and de la Hoya, Miguel (2014) Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium. Human Molecular Genetics, 23 14: 3666-3680. doi:10.1093/hmg/ddu075 35   2 Cited 4 times in Scopus4 0
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. and Spurdle, Amanda B. (2010) Detection of Splicing Aberrations Caused by BRCA1 and BRCA2 Sequence Variants Encoding Missense Substitutions: Implications for Prediction of Pathogenicity. Human Mutation, 31 6: E1484-E1505. doi:10.1002/humu.21267 62   23 Cited 29 times in Scopus29 0
Whiley, Phillip J., Pettigrew, Christopher A., Brewster, Brooke L., Walker, Logan C., Spurdle, Amanda B. and Brown, Melissa A. (2010) Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcripts. BMC Medical Genetics, 11 1: 80-1-80-5. doi:10.1186/1471-2350-11-80 56   11 Cited 11 times in Scopus11 0
Walker, Logan C., Whiley, Phillip J., Houdayer, Claude, Hansen, Thomas V. O., Vega, Ana, Santamarina, Marta, Blanco, Ana, Fachal, Laura, Southey, Melissa C., Lafferty, Alan, Colombo, Mara, De Vecchi, Giovanna, Radice, Paolo and Spurdle, Amanda B. (2013) Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines. Human Mutation, 34 10: 1424-1431. doi:10.1002/humu.22388 33 1 5 Cited 5 times in Scopus5 2
Brewster, Brooke L., Rossiello, Francesca, French, Juliet D., Edwards, Stacey L., Wong, Ming, Wronski, Ania, Whiley, Phillip, Waddell, Nic, Chen, Xiaowei, Bove, Betsy, kConFab, Hopper, John L., John, Esther M., Andrulis, Irene, Daly, Mary, Volorio, Sara, Bernard, Loris, Peissel, Bernard, Manoukian, Siranoush, Barile, Monica, Pizzamiglio, Sara, Verderio, Paolo, Spurdle, Amanda B., Radice, Paolo, Godwin, Andrew K., Southey, Melissa C., Brown, Melissa A. and Peterlongo, Paolo (2012) Identification of fifteen novel germline variants in the BRCA1 3′UTR reveals a variant in a breast cancer case that introduces a functional miR-103 target site. Human Mutation, 33 12: 1665-1675. doi:10.1002/humu.22159 123   9 Cited 9 times in Scopus9 0
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. and Spurdle, Amanda B. (2014) Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation. PloS One, 9 1: 1-10. doi:10.1371/journal.pone.0086836 45   0 Cited 0 times in Scopus0 2
Whiley, Phillip J., Guidugli, Lucia, Walker, Logan C., Healey, Sue, Thompson, Bryony A., Lakhani, Sunil R., Da Silva, Leonard M., kConFab Investigators, Tavtigian, Sean V., Goldgar, David E., Brown, Melissa A., Couch, Fergus J. and Spurdle, Amanda B. (2011) Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary. Human Mutation, 32 6: 678-687. doi:10.1002/humu.21495 97   18 Cited 18 times in Scopus18 0