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Year Number of Results
2015 3
2019 1
2020 1
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Page 1
Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing.
Akesson LS, Eggers S, Love CJ, Chong B, Krzesinski EI, Brown NJ, Tan TY, Richmond CM, Thorburn DR, Christodoulou J, Hunter MF, Lunke S, Stark Z. Akesson LS, et al. Among authors: love cj. Eur J Hum Genet. 2019 Dec;27(12):1821-1826. doi: 10.1038/s41431-019-0477-3. Epub 2019 Jul 29. Eur J Hum Genet. 2019. PMID: 31358953
AmpliVar: mutation detection in high-throughput sequence from amplicon-based libraries.
Hsu AL, Kondrashova O, Lunke S, Love CJ, Meldrum C, Marquis-Nicholson R, Corboy G, Pham K, Wakefield M, Waring PM, Taylor GR. Hsu AL, et al. Among authors: love cj. Hum Mutat. 2015 Apr;36(4):411-8. doi: 10.1002/humu.22763. Epub 2015 Mar 16. Hum Mutat. 2015. PMID: 25664426
Applicability of next generation sequencing technology in microsatellite instability testing.
Gan C, Love C, Beshay V, Macrae F, Fox S, Waring P, Taylor G. Gan C, et al. Among authors: love c. Genes (Basel). 2015 Feb 12;6(1):46-59. doi: 10.3390/genes6010046. Genes (Basel). 2015. PMID: 25685876 Free PMC article.
High-Throughput Amplicon-Based Copy Number Detection of 11 Genes in Formalin-Fixed Paraffin-Embedded Ovarian Tumour Samples by MLPA-Seq.
Kondrashova O, Love CJ, Lunke S, Hsu AL; Australian Ovarian Cancer Study (AOCS) Group, Waring PM, Taylor GR. Kondrashova O, et al. Among authors: love cj. PLoS One. 2015 Nov 16;10(11):e0143006. doi: 10.1371/journal.pone.0143006. eCollection 2015. PLoS One. 2015. PMID: 26569395 Free PMC article.
Genome-wide noninvasive prenatal screening for carriers of balanced reciprocal translocations.
Flowers NJ, Burgess T, Giouzeppos O, Shi G, Love CJ, Hunt CE, Scarff KL, Archibald AD, Pertile MD. Flowers NJ, et al. Among authors: love cj. Genet Med. 2020 Aug 18. doi: 10.1038/s41436-020-0930-2. Online ahead of print. Genet Med. 2020. PMID: 32807973