1. 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. Issue 7 (2nd December 2013) Authors: Parsons, Michael T.; Whiley, Phillip J.; Beesley, Jonathan; Drost, Mark; de Wind, Niels; Thompson, Bryony A.; Marquart, Louise; Hopper, John L.; Jenkins, Mark A.; Australasian Colorectal Cancer Family Registry; Brown, Melissa A.; Tucker, Kathy; Warwick, Linda; Buchanan, Daniel D.; Spurdle, Amanda B. Journal: Molecular carcinogenesis Issue: Volume 54:Issue 7(2015:Jul.) Page Start: 513 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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. Issue 10 (13th August 2013) Authors: 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. Journal: Human mutation Issue: Volume 34:Issue 10(2013:Oct.) Page Start: 1424 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Immunophenotyping identifies distinct cellular signatures for systemic lupus erythematosus and lupus nephritis. Issue 1 (23rd November 2022) Authors: Aw, Yi Tong V.; Whiley, Phillip J.; Lorenzo, Ayla May; Lea‐Henry, Tom; Shanmuganandam, Somasundhari; Stanley, Maurice; Babu, Sonia N.; Athanasopoulos, Vicki; Cappello, Jean; Ellyard, Julia I.; Cook, Matthew; Vinuesa, Carola; Walters, Giles; Fulcher, David A.; Jiang, Simon H. Journal: Rheumatology & autoimmunity Issue: Volume 3:Issue 1(2023) Page Start: 15 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗