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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.
Making good on the promise of genomics in healthcare: the NSW Health perspective.
Willcox D, Trent RJA, Lyons N, Meldrum C, Kennedy P, Lee T, Berman Y, Burgess B, Cannings JW, Canova MJ, Halliburton C, Hibbitt O, Norris SK, Penna A, Perkins A, Pilowsky E, Rushton S. Willcox D, et al. Among authors: trent rja. Aust Health Rev. 2023 Dec;47(6):631-633. doi: 10.1071/AH23112. Aust Health Rev. 2023. PMID: 37844625
Occurrence of the alpha thalassaemia-mental retardation syndrome (non-deletional type) in an Australian male.
Harvey MP, Kearney A, Smith A, Trent RJ. Harvey MP, et al. Among authors: trent rj. J Med Genet. 1990 Sep;27(9):577-81. doi: 10.1136/jmg.27.9.577. J Med Genet. 1990. PMID: 2231651 Free PMC article. Review.
To date, five cases have been described with non-deletional alpha thalassaemia-mental retardation. We present here a further example of a young male of Northern European origin who appears to have the non-deletional form of the disease. ...
To date, five cases have been described with non-deletional alpha thalassaemia-mental retardation. We present here a further example of a yo …
The impact of the Austronesian expansion: evidence from mtDNA and Y chromosome diversity in the Admiralty Islands of Melanesia.
Kayser M, Choi Y, van Oven M, Mona S, Brauer S, Trent RJ, Suarkia D, Schiefenhövel W, Stoneking M. Kayser M, et al. Among authors: trent rj. Mol Biol Evol. 2008 Jul;25(7):1362-74. doi: 10.1093/molbev/msn078. Epub 2008 Apr 3. Mol Biol Evol. 2008. PMID: 18390477
Furthermore, we identified a NRY haplogroup (K-P79, also found on the Admiralties) in Polynesians that most likely arose in the Bismarck Archipelago, providing the first direct link between northern Island Melanesia and Polynesia. These results significantly advance our un …
Furthermore, we identified a NRY haplogroup (K-P79, also found on the Admiralties) in Polynesians that most likely arose in the Bismarck Arc …
Alpha thalassemia British type (alpha alpha/--Brit) in an Australian family.
Wilkinson T, Yakas J, Kronenberg H, Trent RJ. Wilkinson T, et al. Among authors: trent rj. Pathology. 1986 Apr;18(2):193-5. doi: 10.3109/00313028609059458. Pathology. 1986. PMID: 3020489
Alpha thalassemia is rarely diagnosed in Australian families of British or Northern European ancestry. In 1972, a third generation Australian was shown to have alpha thalassemia. ...
Alpha thalassemia is rarely diagnosed in Australian families of British or Northern European ancestry. In 1972, a third generation Au …