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2016
Mark A novel 33-Gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemias
Roy, Noémi B A ; Wilson, Edward A. ; Henderson, Shirley ; Wray, Katherine ; Babbs, Christian ; Okoli, Steven ; Atoyebi, Wale ; Mixon, Avery ; Cahill, Mary R. and Carey, Peter , et al. (2016) In British Journal of Haematology 175(2). p.318-330
- Contribution to journal › Article
2007
Mark PhenCode: connecting ENCODE data with mutations and phenotype.
Giardine, Belinda ; Riemer, Cathy ; Hefferon, Tim ; Thomas, Daryl ; Hsu, Fan ; Zielenski, Julian ; Sang, Yunhua ; Elnitski, Laura ; Cutting, Garry and Trumbower, Heather , et al. (2007) In Human Mutation 28(6). p.554-562
- Contribution to journal › Article