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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, B… See abstract for full author list ➔ Bournazos AM, et al. Among authors: niaz a. 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.
Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathy.
Riley LG, Sabui S, Said HM, Niaz A, Girisha KM, Radhakrishnan P, Nampoothiri S, Yesodharan D, Kilo T, Smith J, Wong RSH, Menezes MP, Gupta S, Cooper ST, Balasubramaniam S. Riley LG, et al. Among authors: niaz a. Eur J Hum Genet. 2024 Aug;32(8):947-953. doi: 10.1038/s41431-024-01641-8. Epub 2024 May 30. Eur J Hum Genet. 2024. PMID: 38816490
EUELC project: a multi-centre, multipurpose study to investigate early stage NSCLC, and to establish a biobank for ongoing collaboration.
Field JK, Liloglou T, Niaz A, Bryan J, Gosney JR, Giles T, Brambilla C, Brambilla E, Vesin A, Timsit JF, Hainaut P, Martinet Y, Vignaud JM, Thunnissen FB, Prinsen C, Snijders PJ, Smit EF, Sozzi G, Roz L, Risch A, Becker HD, Elborn JS, Magee ND, Montuenga LM, Pajares MJ, Lozano MD, O'Byrne KJ, Harrison DJ, Niklinski J, Cassidy A; EUELC Collaborators. Field JK, et al. Among authors: niaz a. Eur Respir J. 2009 Dec;34(6):1477-86. doi: 10.1183/09031936.00077809. Eur Respir J. 2009. PMID: 19948914 Free article.
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