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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, Jone… See abstract for full author list ➔ Bournazos AM, et al. Among authors: tan k, tan ty. 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.
Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate.
Akesson LS, Bournazos A, Fennell A, Krzesinski EI, Tan K, Springer A, Rose K, Goranitis I, Francis D, Lee C, Faiz F, Davis MR, Christodoulou J, Lunke S, Stark Z, Hunter MF, Cooper ST. Akesson LS, et al. Among authors: tan k. Hum Mutat. 2020 Nov;41(11):1884-1891. doi: 10.1002/humu.24101. Epub 2020 Sep 9. Hum Mutat. 2020. PMID: 32906196
Docosahexaenoic Acid and Bronchopulmonary Dysplasia in Preterm Infants.
Collins CT, Makrides M, McPhee AJ, Sullivan TR, Davis PG, Thio M, Simmer K, Rajadurai VS, Travadi J, Berry MJ, Liley HG, Opie GF, Tan K, Lui K, Morris SA, Stack J, Stark MJ, Chua MC, Jayagobi PA, Holberton J, Bolisetty S, Callander IR, Harris DL, Gibson RA. Collins CT, et al. Among authors: tan k. N Engl J Med. 2017 Mar 30;376(13):1245-1255. doi: 10.1056/NEJMoa1611942. N Engl J Med. 2017. PMID: 28355511 Free article. Clinical Trial.
Temperature Monitoring Devices in Neonates.
Lei D, Tan K, Malhotra A. Lei D, et al. Among authors: tan k. Front Pediatr. 2021 Aug 24;9:732810. doi: 10.3389/fped.2021.732810. eCollection 2021. Front Pediatr. 2021. PMID: 34504819 Free PMC article. Review.
Digital stethoscopes in paediatric medicine.
Ramanathan A, Zhou L, Marzbanrad F, Roseby R, Tan K, Kevat A, Malhotra A. Ramanathan A, et al. Among authors: tan k. Acta Paediatr. 2019 May;108(5):814-822. doi: 10.1111/apa.14686. Epub 2019 Jan 15. Acta Paediatr. 2019. PMID: 30536440
7,209 results