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Quantitative ctDNA Detection in Hepatoblastoma: Implications for Precision Medicine.
Kahana-Edwin S, Torpy J, Cain LE, Mullins A, McCowage G, Woodfield SE, Vasudevan SA, Shea DPT, Minoche AE, Espinoza AF, Kummerfeld S, Goldstein LD, Karpelowsky J. Kahana-Edwin S, et al. Among authors: minoche ae. Cancers (Basel). 2023 Dec 19;16(1):12. doi: 10.3390/cancers16010012. Cancers (Basel). 2023. PMID: 38201440 Free PMC article.
Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis.
Ewans LJ, Minoche AE, Schofield D, Shrestha R, Puttick C, Zhu Y, Drew A, Gayevskiy V, Elakis G, Walsh C, Adès LC, Colley A, Ellaway C, Evans CA, Freckmann ML, Goodwin L, Hackett A, Kamien B, Kirk EP, Lipke M, Mowat D, Palmer E, Rajagopalan S, Ronan A, Sachdev R, Stevenson W, Turner A, Wilson M, Worgan L, Morel-Kopp MC, Field M, Buckley MF, Cowley MJ, Dinger ME, Roscioli T. Ewans LJ, et al. Among authors: minoche ae. Eur J Hum Genet. 2022 Oct;30(10):1121-1131. doi: 10.1038/s41431-022-01162-2. Epub 2022 Aug 15. Eur J Hum Genet. 2022. PMID: 35970915 Free PMC article.
Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis.
Davis RL, Kumar KR, Puttick C, Liang C, Ahmad KE, Edema-Hildebrand F, Park JS, Minoche AE, Gayevskiy V, Mallawaarachchi AC, Christodoulou J, Schofield D, Dinger ME, Cowley MJ, Sue CM. Davis RL, et al. Among authors: minoche ae. Neurology. 2022 Aug 16;99(7):e730-e742. doi: 10.1212/WNL.0000000000200745. Epub 2022 May 31. Neurology. 2022. PMID: 35641312 Free PMC article.
The Australian dingo is an early offshoot of modern breed dogs.
Field MA, Yadav S, Dudchenko O, Esvaran M, Rosen BD, Skvortsova K, Edwards RJ, Keilwagen J, Cochran BJ, Manandhar B, Bustamante S, Rasmussen JA, Melvin RG, Chernoff B, Omer A, Colaric Z, Chan EKF, Minoche AE, Smith TPL, Gilbert MTP, Bogdanovic O, Zammit RA, Thomas T, Aiden EL, Ballard JWO. Field MA, et al. Among authors: minoche ae. Sci Adv. 2022 Apr 22;8(16):eabm5944. doi: 10.1126/sciadv.abm5944. Epub 2022 Apr 22. Sci Adv. 2022. PMID: 35452284 Free PMC article.
Genome sequencing in congenital cataracts improves diagnostic yield.
Ma A, Grigg JR, Flaherty M, Smith J, Minoche AE, Cowley MJ, Nash BM, Ho G, Gayagay T, Lai T, Farnsworth E, Hackett EL, Slater K, Wong K, Holman KJ, Jenkins G, Cheng A, Martin F, Brown NJ, Leighton SE, Amor DJ, Goel H, Dinger ME, Bennetts B, Jamieson RV. Ma A, et al. Among authors: minoche ae. Hum Mutat. 2021 Sep;42(9):1173-1183. doi: 10.1002/humu.24240. Epub 2021 Jun 15. Hum Mutat. 2021. PMID: 34101287
44 results