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The role of exome sequencing in childhood interstitial or diffuse lung disease.
Temple SEL, Ho G, Bennetts B, Boggs K, Vidic N, Mowat D, Christodoulou J, Schultz A, Gayagay T, Roscioli T, Zhu Y, Lunke S, Armstrong D, Harrison J, Kapur N, McDonald T, Selvadurai H, Tai A, Stark Z, Jaffe A. Temple SEL, et al. Among authors: roscioli t. Orphanet J Rare Dis. 2022 Sep 9;17(1):350. doi: 10.1186/s13023-022-02508-1. Orphanet J Rare Dis. 2022. PMID: 36085161 Free PMC article.
Exome sequencing provides additional evidence for the involvement of ARHGAP29 in Mendelian orofacial clefting and extends the phenotypic spectrum to isolated cleft palate.
Liu H, Busch T, Eliason S, Anand D, Bullard S, Gowans LJJ, Nidey N, Petrin A, Augustine-Akpan EA, Saadi I, Dunnwald M, Lachke SA, Zhu Y, Adeyemo A, Amendt B, Roscioli T, Cornell R, Murray J, Butali A. Liu H, et al. Among authors: roscioli t. Birth Defects Res. 2017 Jan 20;109(1):27-37. doi: 10.1002/bdra.23596. Birth Defects Res. 2017. PMID: 28029220 Free PMC article.
KBG syndrome: An Australian experience.
Murray N, Burgess B, Hay R, Colley A, Rajagopalan S, McGaughran J, Patel C, Enriquez A, Goodwin L, Stark Z, Tan T, Wilson M, Roscioli T, Tekin M, Goel H. Murray N, et al. Among authors: roscioli t. Am J Med Genet A. 2017 Jul;173(7):1866-1877. doi: 10.1002/ajmg.a.38121. Epub 2017 Apr 27. Am J Med Genet A. 2017. PMID: 28449295
Initiating an undiagnosed diseases program in the Western Australian public health system.
Baynam G, Broley S, Bauskis A, Pachter N, McKenzie F, Townshend S, Slee J, Kiraly-Borri C, Vasudevan A, Hawkins A, Schofield L, Helmholz P, Palmer R, Kung S, Walker CE, Molster C, Lewis B, Mina K, Beilby J, Pathak G, Poulton C, Groza T, Zankl A, Roscioli T, Dinger ME, Mattick JS, Gahl W, Groft S, Tifft C, Taruscio D, Lasko P, Kosaki K, Wilhelm H, Melegh B, Carapetis J, Jana S, Chaney G, Johns A, Owen PW, Daly F, Weeramanthri T, Dawkins H, Goldblatt J. Baynam G, et al. Among authors: roscioli t. Orphanet J Rare Dis. 2017 May 3;12(1):83. doi: 10.1186/s13023-017-0619-z. Orphanet J Rare Dis. 2017. PMID: 28468665 Free PMC article.
147 results