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Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications.
Ewans LJ, Colley A, Gaston-Massuet C, Gualtieri A, Cowley MJ, McCabe MJ, Anand D, Lachke SA, Scietti L, Forneris F, Zhu Y, Ying K, Walsh C, Kirk EP, Miller D, Giunta C, Sillence D, Dinger M, Buckley M, Roscioli T. Ewans LJ, et al. Among authors: mccabe mj. J Med Genet. 2019 Sep;56(9):629-638. doi: 10.1136/jmedgenet-2019-106019. Epub 2019 May 25. J Med Genet. 2019. PMID: 31129566 Review.
Germline variants in familial pituitary tumour syndrome genes are common in young patients and families with additional endocrine tumours.
De Sousa SMC, McCabe MJ, Wu K, Roscioli T, Gayevskiy V, Brook K, Rawlings L, Scott HS, Thompson TJ, Earls P, Gill AJ, Cowley MJ, Dinger ME, McCormack AI. De Sousa SMC, et al. Among authors: mccabe mj. Eur J Endocrinol. 2017 May;176(5):635-644. doi: 10.1530/EJE-16-0944. Epub 2017 Feb 20. Eur J Endocrinol. 2017. PMID: 28220018
Genomic stratification and liquid biopsy in a rare adrenocortical carcinoma (ACC) case, with dual lung metastases.
McCabe MJ, Pinese M, Chan CL, Sheriff N, Thompson TJ, Grady J, Wong M, Gauthier MA, Puttick C, Gayevskiy V, Hajdu E, Wong SQ, Barrett W, Earls P, Lukeis R, Cheng YY, Lin RCY, Thomas DM, Watkins DN, Dinger ME, McCormack AI, Cowley MJ. McCabe MJ, et al. Cold Spring Harb Mol Case Stud. 2019 Apr 1;5(2):a003764. doi: 10.1101/mcs.a003764. Print 2019 Apr. Cold Spring Harb Mol Case Stud. 2019. PMID: 30936196 Free PMC article.
Development and validation of a targeted gene sequencing panel for application to disparate cancers.
McCabe MJ, Gauthier MA, Chan CL, Thompson TJ, De Sousa SMC, Puttick C, Grady JP, Gayevskiy V, Tao J, Ying K, Cipponi A, Deng N, Swarbrick A, Thomas ML, Lord RV, Johns AL, Kohonen-Corish M, O'Toole SA, Clark J, Mueller SA, Gupta R, McCormack AI, Dinger ME, Cowley MJ; kConFab. McCabe MJ, et al. Sci Rep. 2019 Nov 19;9(1):17052. doi: 10.1038/s41598-019-52000-3. Sci Rep. 2019. PMID: 31745186 Free PMC article.
Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications.
Sullivan PJ, Gayevskiy V, Davis RL, Wong M, Mayoh C, Mallawaarachchi A, Hort Y, McCabe MJ, Beecroft S, Jackson MR, Arts P, Dubowsky A, Laing N, Dinger ME, Scott HS, Oates E, Pinese M, Cowley MJ. Sullivan PJ, et al. Among authors: mccabe mj. Genome Biol. 2023 May 17;24(1):118. doi: 10.1186/s13059-023-02936-7. Genome Biol. 2023. PMID: 37198692 Free PMC article.
MTOR signaling orchestrates stress-induced mutagenesis, facilitating adaptive evolution in cancer.
Cipponi A, Goode DL, Bedo J, McCabe MJ, Pajic M, Croucher DR, Rajal AG, Junankar SR, Saunders DN, Lobachevsky P, Papenfuss AT, Nessem D, Nobis M, Warren SC, Timpson P, Cowley M, Vargas AC, Qiu MR, Generali DG, Keerthikumar S, Nguyen U, Corcoran NM, Long GV, Blay JY, Thomas DM. Cipponi A, et al. Among authors: mccabe mj. Science. 2020 Jun 5;368(6495):1127-1131. doi: 10.1126/science.aau8768. Science. 2020. PMID: 32499442
85 results