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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: cowley mj. Genome Biol. 2023 May 17;24(1):118. doi: 10.1186/s13059-023-02936-7. Genome Biol. 2023. PMID: 37198692 Free PMC article.
Clinical and molecular characterization of HER2 amplified-pancreatic cancer.
Chou A, Waddell N, Cowley MJ, Gill AJ, Chang DK, Patch AM, Nones K, Wu J, Pinese M, Johns AL, Miller DK, Kassahn KS, Nagrial AM, Wasan H, Goldstein D, Toon CW, Chin V, Chantrill L, Humphris J, Mead RS, Rooman I, Samra JS, Pajic M, Musgrove EA, Pearson JV, Morey AL, Grimmond SM, Biankin AV. Chou A, et al. Among authors: cowley mj. Genome Med. 2013 Aug 31;5(8):78. doi: 10.1186/gm482. eCollection 2013. Genome Med. 2013. PMID: 24004612 Free PMC article.
Clinical and pathologic features of familial pancreatic cancer.
Humphris JL, Johns AL, Simpson SH, Cowley MJ, Pajic M, Chang DK, Nagrial AM, Chin VT, Chantrill LA, Pinese M, Mead RS, Gill AJ, Samra JS, Kench JG, Musgrove EA, Tucker KM, Spigelman AD, Waddell N, Grimmond SM, Biankin AV; Australian Pancreatic Cancer Genome Initiative. Humphris JL, et al. Among authors: cowley mj. Cancer. 2014 Dec 1;120(23):3669-75. doi: 10.1002/cncr.28863. Epub 2014 Oct 14. Cancer. 2014. PMID: 25313458 Free article.
Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine.
Palmer EE, Hayner J, Sachdev R, Cardamone M, Kandula T, Morris P, Dias KR, Tao J, Miller D, Zhu Y, Macintosh R, Dinger ME, Cowley MJ, Buckley MF, Roscioli T, Bye A, Kilberg MS, Kirk EP. Palmer EE, et al. Among authors: cowley mj. Mol Genet Metab. 2015 Nov;116(3):178-86. doi: 10.1016/j.ymgme.2015.08.007. Epub 2015 Aug 14. Mol Genet Metab. 2015. PMID: 26318253 Free PMC article.
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: cowley 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
310 results