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Page 1
A Pathway to Precision Medicine for Aboriginal Australians: A Study Protocol.
Cheng YY, Nunn J, Skinner J, Rambaldini B, Boughtwood T, Calma T, Brown A, Meldrum C, Dinger ME, Byrne JA, McCowen D, Potter J, Faires K, Cooper S, Gwynne K. Cheng YY, et al. Among authors: meldrum c. Methods Protoc. 2021 Jun 21;4(2):42. doi: 10.3390/mps4020042. Methods Protoc. 2021. PMID: 34205718 Free PMC article.
Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic Data.
Easteal S, Arkell RM, Balboa RF, Bellingham SA, Brown AD, Calma T, Cook MC, Davis M, Dawkins HJS, Dinger ME, Dobbie MS, Farlow A, Gwynne KG, Hermes A, Hoy WE, Jenkins MR, Jiang SH, Kaplan W, Leslie S, Llamas B, Mann GJ, McMorran BJ, McWhirter RE, Meldrum CJ, Nagaraj SH, Newman SJ, Nunn JS, Ormond-Parker L, Orr NJ, Paliwal D, Patel HR, Pearson G, Pratt GR, Rambaldini B, Russell LW, Savarirayan R, Silcocks M, Skinner JC, Souilmi Y, Vinuesa CG; National Centre for Indigenous Genomics; Baynam G. Easteal S, et al. Among authors: meldrum cj. Am J Hum Genet. 2020 Aug 6;107(2):175-182. doi: 10.1016/j.ajhg.2020.06.005. Am J Hum Genet. 2020. PMID: 32763188 Free PMC article.
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
Bournazos AM, Riley LG, Bommireddipalli S, Ades L, Akesson LS, Al-Shinnag M, Alexander SI, Archibald AD, Balasubramaniam S, Berman Y, Beshay V, Boggs K, Bojadzieva J, Brown NJ, Bryen SJ, Buckley MF, Chong B, Davis MR, Dawes R, Delatycki M, Donaldson L, Downie L, Edwards C, Edwards M, Engel A, Ewans LJ, Faiz F, Fennell A, Field M, Freckmann ML, Gallacher L, Gear R, Goel H, Goh S, Goodwin L, Hanna B, Harraway J, Higgins M, Ho G, Hopper BK, Horton AE, Hunter MF, Huq AJ, Josephi-Taylor S, Joshi H, Kirk E, Krzesinski E, Kumar KR, Lemckert F, Leventer RJ, Lindsey-Temple SE, Lunke S, Ma A, Macaskill S, Mallawaarachchi A, Marty M, Marum JE, McCarthy HJ, Menezes MP, McLean A, Milnes D, Mohammad S, Mowat D, Niaz A, Palmer EE, Patel C, Patel SG, Phelan D, Pinner JR, Rajagopalan S, Regan M, Rodgers J, Rodrigues M, Roxburgh RH, Sachdev R, Roscioli T, Samarasekera R, Sandaradura SA, Savva E, Schindler T, Shah M, Sinnerbrink IB, Smith JM, Smith RJ, Springer A, Stark Z, Strom SP, Sue CM, Tan K, Tan TY, Tantsis E, Tchan MC, Thompson BA, Trainer AH, van Spaendonck-Zwarts K, Walsh R, Warwick L, White S, White SM, Williams MG, Wilson MJ, Wong WK, Wright DC, Yap P, Yeung A, Young H, Jones KJ, Bennetts… See abstract for full author list ➔ Bournazos AM, et al. Genet Med. 2022 Jan;24(1):130-145. doi: 10.1016/j.gim.2021.09.001. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906502 Free article.
Somatic-gonadal mosaicism causing Sotos syndrome.
Kamien B, Dadd T, Buckman M, Ronan A, Dudding T, Meldrum C, Scott R, Mina K. Kamien B, et al. Among authors: meldrum c. Am J Med Genet A. 2016 Dec;170(12):3360-3362. doi: 10.1002/ajmg.a.37867. Epub 2016 Sep 8. Am J Med Genet A. 2016. PMID: 27604501 No abstract available.
cDNA analysis of the BRCA1 unclassified variant c.5194-12G>A.
Wong-Brown MW, McPhillips ML, Hipwell M, Pecenpetelovska G, Dooley S, Meldrum C, Scott RJ. Wong-Brown MW, et al. Among authors: meldrum c. Clin Genet. 2013 Nov;84(5):505-6. doi: 10.1111/cge.12052. Epub 2012 Dec 20. Clin Genet. 2013. PMID: 23278966 No abstract available.
149 results