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EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders.
Balasubramaniam S, Riley LG, Vasudevan A, Cowley MJ, Gayevskiy V, Sue CM, Edwards C, Edkins E, Junckerstorff R, Kiraly-Borri C, Rowe P, Christodoulou J. Balasubramaniam S, et al. Among authors: edwards c. JIMD Rep. 2018;42:19-29. doi: 10.1007/8904_2017_71. Epub 2017 Nov 21. JIMD Rep. 2018. PMID: 29159459 Free PMC article.
Neonatal seizures and long QT syndrome: a cardiocerebral channelopathy?
Heron SE, Hernandez M, Edwards C, Edkins E, Jansen FE, Scheffer IE, Berkovic SF, Mulley JC. Heron SE, et al. Among authors: edwards c. Epilepsia. 2010 Feb;51(2):293-6. doi: 10.1111/j.1528-1167.2009.02317.x. Epub 2009 Oct 27. Epilepsia. 2010. PMID: 19863579 Free article.
Perilobar nephrogenic rests and chromosome 22.
Mdzin R, Phillips M, Edwards C, Murch A, Charles A. Mdzin R, et al. Among authors: edwards c. Pediatr Dev Pathol. 2011 Nov-Dec;14(6):485-92. doi: 10.2350/10-01-0781-CR.1. Epub 2011 Aug 24. Pediatr Dev Pathol. 2011. PMID: 21864120
Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centres.
Fortuno C, Cops EJ, Davidson AL, Hadler J, Innella G, McKenzie ME, Parsons M, Campbell AM, Dubowsky A, Fargas V, Field MJ, Mar Fan HG, Nichols CB, Poplawski NK, Warwick L, Williams R, Beshay V, Edwards C, Johns A, McPhillips M, Kumar VS, Scott R, Williams M, Scott H, James PA, Spurdle AB. Fortuno C, et al. Among authors: edwards c. Eur J Hum Genet. 2024 Dec;32(12):1632-1639. doi: 10.1038/s41431-024-01705-9. Epub 2024 Oct 14. Eur J Hum Genet. 2024. PMID: 39402389 Free PMC article.
Congenital Retroperitoneal Teratoma in Neurofibromatosis Type 1.
Yap P, Super L, Qin J, Burgess T, Prodanovic Z, Edwards C, Thomas R, Carpenter K, Tan TY. Yap P, et al. Among authors: edwards c. Pediatr Blood Cancer. 2016 Apr;63(4):706-8. doi: 10.1002/pbc.25812. Epub 2015 Oct 30. Pediatr Blood Cancer. 2016. PMID: 26514327
Enhanced Advance care planning and life Review Longitudinal Intervention (EARLI): Protocol for a cluster randomized controlled cross-over trial of life story work and facilitated advance care planning among older Australian adults in community settings.
Karusoo-Musumeci A, Yeoh L, Walton R, Dao-Tran TH, Halcomb E, Auret KA, Clayton JM, Kurrle S, Campbell E, Hilgeman M, Sinclair R, Meller A, Towler S, Edwards CE, Comans T, Sinclair C. Karusoo-Musumeci A, et al. Among authors: edwards ce. Contemp Clin Trials. 2024 Dec 30:107795. doi: 10.1016/j.cct.2024.107795. Online ahead of print. Contemp Clin Trials. 2024. PMID: 39743017 Free article.
3,920 results