Works matching AU Whiley, Phillip

Results: 15

Transcriptomic signatures of host immune responses in aphthous ulcers, the earliest lesions of Crohn's disease, suggest that bacterial uptake, rather than global dysbiosis, is the initiating factor.

Published in:

Immunology & Cell Biology, 2025, v. 103, n. 5, p. 473, doi. 10.1111/imcb.70031

By:

Whiley, Phillip J;
Dixit, Ojas V A;
Das Gupta, Mukta;
Patel, Hardip;
Zhao, Guoyan;
Connor, Susan J;
Summers, Kim M;
Hume, David A;
Pavli, Paul;
O'Brien, Claire L

Publication type:

Article

BRCA1 and BRCA2 5′ noncoding region variants identified in breast cancer patients alter promoter activity and protein binding.

Published in:

Human Mutation, 2018, v. 39, n. 12, p. 2025, doi. 10.1002/humu.23652

By:

Burke, Leslie J.;
Sevcik, Jan;
Gambino, Gaetana;
Tudini, Emma;
Mucaki, Eliseos J.;
Shirley, Ben C.;
Whiley, Phillip;
Parsons, Michael T.;
Leeneer, Kim;
Gutiérrez‐Enríquez, Sara;
Santamariña, Marta;
Caputo, Sandrine M.;
Santana dos Santos, Elizabeth;
Soukupova, Jana;
Janatova, Marketa;
Zemankova, Petra;
Lhotova, Klara;
Stolarova, Lenka;
Borecka, Mariana;
Moles‐Fernández, Alejandro

Publication type:

Article

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.

Published in:

Human Mutation, 2013, v. 34, n. 10, p. 1424, doi. 10.1002/humu.22388

By:

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;
Spurdle, Amanda B.

Publication type:

Article

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.

Published in:

Human Mutation, 2012, v. 33, n. 12, p. 1665, doi. 10.1002/humu.22159

By:

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

Publication type:

Article

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.

Published in:

Human Mutation, 2011, v. 32, n. 6, p. 678, doi. 10.1002/humu.21495

By:

Whiley, Phillip J.;
Guidugli, Lucia;
Walker, Logan C.;
Healey, Sue;
Thompson, Bryony A.;
Lakhani, Sunil R.;
Da Silva, Leonard M.;
Investigators, kConFab;
Tavtigian, Sean V.;
Goldgar, David E.;
Brown, Melissa A.;
Couch, Fergus J.;
Spurdle, Amanda B.

Publication type:

Article

Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity.

Published in:

Human Mutation, 2010, v. 31, n. 6, p. E1484, doi. 10.1002/humu.21267

By:

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.

Publication type:

Article

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

Published in:

PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0086836

By:

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.

Publication type:

Article

Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 14, p. 3666

By:

Colombo, Mara;
Blok, Marinus J.;
Whiley, Phillip;
Santamariña, Marta;
Gutiérrez-Enríquez, Sara;
Romero, Atocha;
Garre, Pilar;
Becker, Alexandra;
Smith, Lindsay Denise;
De Vecchi, Giovanna;
Brandão, Rita D.;
Tserpelis, Demis;
Brown, Melissa;
Blanco, Ana;
Bonache, Sandra;
Menéndez, Mireia;
Houdayer, Claude;
Foglia, Claudia;
Fackenthal, James D.;
Baralle, Diana

Publication type:

Article

A case series of first rib resection patients assessed with a novel MRI protocol for neurogenic thoracic outlet syndrome.

Published in:

2023

By:

Whiley, Phillip J;
Tamhane, Rohit;
Hardman, David T A

Publication type:

Case Study

case of liver injury and pneumo-haemoperitoneum during pericardiocentesis.

Published in:

2022

By:

Whiley, Phillip J;
Rodrigues, Nicole;
Balasooriya, Janaka

Publication type:

Case Study

case of metastatic neuroendocrine disease and cholecystitis: surgical remedy and management of carcinoid crisis.

Published in:

2021

By:

Whiley, Phillip J;
Balasooriya, Janaka;
Wake, Rudyard J

Publication type:

Case Study

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

Published in:

Clinical Chemistry, 2014, v. 60, n. 2, p. 341, doi. 10.1373/clinchem.2013.210658

By:

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;
Toshio Yoshimatsu;
Tirapo, Carole;
Raponi, Michela;
Caldes, Trinidad;
Blanco, Ana;
Santamariña, Marta

Publication type:

Article

Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members.

Published in:

Breast Cancer Research & Treatment, 2012, v. 132, n. 3, p. 1009, doi. 10.1007/s10549-011-1674-0

By:

Thomassen, Mads;
Blanco, Ana;
Montagna, Marco;
Hansen, Thomas;
Pedersen, Inge;
Gutiérrez-Enríquez, Sara;
Menéndez, Mireia;
Fachal, Laura;
Santamariña, Marta;
Steffensen, Ane;
Jønson, Lars;
Agata, Simona;
Whiley, Phillip;
Tognazzo, Silvia;
Tornero, Eva;
Jensen, Uffe;
Balmaña, Judith;
Kruse, Torben;
Goldgar, David;
Lázaro, Conxi

Publication type:

Article

Consequences of germline variation disrupting the constitutional translational initiation codon start sites of MLH1 and BRCA2: Use of potential alternative start sites and implications for predicting variant pathogenicity.

Published in:

Molecular Carcinogenesis, 2015, v. 54, n. 7, p. 513, doi. 10.1002/mc.22116

By:

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.

Publication type:

Article

Effect of BRCA2 sequence variants predicted todisrupt exonic splice enhancers on BRCA2transcripts.

Published in:

BMC Medical Genetics, 2010, v. 11, p. 80, doi. 10.1186/1471-2350-11-1

By:

Whiley, Phillip J.;
Pettigrew, Christopher A.;
Brewster, Brooke L.;
Walker, Logan C.;
Spurdle, Amanda B.;
Brown, Melissa A.

Publication type:

Article