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Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis.
Ewans LJ, Minoche AE, Schofield D, Shrestha R, Puttick C, Zhu Y, Drew A, Gayevskiy V, Elakis G, Walsh C, Adès LC, Colley A, Ellaway C, Evans CA, Freckmann ML, Goodwin L, Hackett A, Kamien B, Kirk EP, Lipke M, Mowat D, Palmer E, Rajagopalan S, Ronan A, Sachdev R, Stevenson W, Turner A, Wilson M, Worgan L, Morel-Kopp MC, Field M, Buckley MF, Cowley MJ, Dinger ME, Roscioli T. Ewans LJ, et al. Among authors: mowat d. Eur J Hum Genet. 2022 Oct;30(10):1121-1131. doi: 10.1038/s41431-022-01162-2. Epub 2022 Aug 15. Eur J Hum Genet. 2022. PMID: 35970915 Free PMC 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
Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy.
Taylor PJ, Maroulis S, Mullan GL, Pedersen RL, Baumli A, Elakis G, Piras S, Walsh C, Prósper-Gutiérrez B, De La Puente-Alonso F, Bell CG, Mowat DR, Johnston HM, Buckley MF. Taylor PJ, et al. J Med Genet. 2007 Jun;44(6):368-72. doi: 10.1136/jmg.2006.047464. Epub 2007 Jan 26. J Med Genet. 2007. PMID: 17259292 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: mowat d. 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
177 results