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1997 1
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Page 1
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.
Paediatric genomic testing: Navigating medicare rebatable genomic testing.
Sachdev R, Field M, Baynam GS, Beilby J, Berarducci M, Berman Y, Boughtwood T, Cusack MB, Fitzgerald V, Fletcher J, Freckmann ML, Grainger N, Kirk E, Lundie B, Lunke S, McGregor L, Mowat D, Parasivam G, Tyrell V, Wallis M, White SM, S L Ma A. Sachdev R, et al. Among authors: parasivam g. J Paediatr Child Health. 2021 Apr;57(4):477-483. doi: 10.1111/jpc.15382. Epub 2021 Feb 10. J Paediatr Child Health. 2021. PMID: 33566436 Free PMC article.
Paediatric genomic testing: Navigating genomic reports for the general paediatrician.
Shah M, Selvanathan A, Baynam G, Berman Y, Boughtwood T, Freckmann ML, Parasivam G, White SM, Grainger N, Kirk EP, Ma AS, Sachdev R. Shah M, et al. Among authors: parasivam g. J Paediatr Child Health. 2022 Jan;58(1):8-15. doi: 10.1111/jpc.15703. Epub 2021 Aug 23. J Paediatr Child Health. 2022. PMID: 34427008 Free PMC article.
'A sword of Damocles': patient and caregiver beliefs, attitudes and perspectives on presymptomatic testing for autosomal dominant polycystic kidney disease: a focus group study.
Logeman C, Cho Y, Sautenet B, Rangan GK, Gutman T, Craig J, Ong A, Chapman A, Ahn C, Coolican H, Tze-Wah Kao J, Gansevoort RT, Perrone R, Harris T, Torres V, Fowler K, Pei Y, Kerr P, Ryan J, Johnson D, Viecelli A, Geneste C, Kim H, Kim Y, Howell M, Ju A, Manera KE, Teixeira-Pinto A, Parasivam G, Tong A. Logeman C, et al. Among authors: parasivam g. BMJ Open. 2020 Oct 10;10(10):e038005. doi: 10.1136/bmjopen-2020-038005. BMJ Open. 2020. PMID: 33040007 Free PMC article.
An Australian tuberous sclerosis cohort: are surveillance guidelines being met?
Chopra M, Lawson JA, Wilson M, Kennedy SE, Taylor P, Buckley MF, Wargon O, Parasivam G, Camphausen C, Yates D, Mowat D. Chopra M, et al. Among authors: parasivam g. J Paediatr Child Health. 2011 Oct;47(10):711-6. doi: 10.1111/j.1440-1754.2011.02038.x. Epub 2011 Mar 30. J Paediatr Child Health. 2011. PMID: 21449900
14 results