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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
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.
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.
Type 2 immune polarization is associated with cardiopulmonary disease in preterm infants.
Lao JC, Bui CB, Pang MA, Cho SX, Rudloff I, Elgass K, Schröder J, Maksimenko A, Mangan NE, Starkey MR, Skuza EM, Sun YBY, Beker F, Collins CL, Kamlin OF, König K, Malhotra A, Tan K, Theda C, Young MJ, McLean CA, Wilson NJ, Sehgal A, Hansbro PM, Pearson JT, Polo JM, Veldman A, Berger PJ, Nold-Petry CA, Nold MF. Lao JC, et al. Among authors: tan k. Sci Transl Med. 2022 Apr 6;14(639):eaaz8454. doi: 10.1126/scitranslmed.aaz8454. Epub 2022 Apr 6. Sci Transl Med. 2022. PMID: 35385341
6,929 results