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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: mowat d. 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.
In utero fetal muscle biopsy in the diagnosis of Duchenne muscular dystrophy.
Ladwig D, Mowat D, Tobias V, Taylor PJ, Buckley MF, McNally G, Challis D. Ladwig D, et al. Among authors: mowat d. Aust N Z J Obstet Gynaecol. 2002 Feb;42(1):79-82. doi: 10.1111/j.0004-8666.2002.00085.x. Aust N Z J Obstet Gynaecol. 2002. PMID: 11926646 No abstract available.
Mowat-Wilson syndrome.
Mowat DR, Wilson MJ, Goossens M. Mowat DR, et al. J Med Genet. 2003 May;40(5):305-10. doi: 10.1136/jmg.40.5.305. J Med Genet. 2003. PMID: 12746390 Free PMC article. Review.
Kousseff syndrome: a causally heterogeneous disorder.
Maclean K, Field MJ, Colley AS, Mowat DR, Sparrow DB, Dunwoodie SL, Kirk EP. Maclean K, et al. Among authors: mowat dr. Am J Med Genet A. 2004 Jan 30;124A(3):307-12. doi: 10.1002/ajmg.a.20418. Am J Med Genet A. 2004. PMID: 14708106
181 results