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Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations.
Robitaille JM, Gillett RM, LeBlanc MA, Gaston D, Nightingale M, Mackley MP, Parkash S, Hathaway J, Thomas A, Ells A, Traboulsi EI, Héon E, Roy M, Shalev S, Fernandez CV, MacGillivray C, Wallace K, Fahiminiya S, Majewski J, McMaster CR, Bedard K. Robitaille JM, et al. Among authors: mackley mp. JAMA Ophthalmol. 2014 Dec;132(12):1393-9. doi: 10.1001/jamaophthalmol.2014.2814. JAMA Ophthalmol. 2014. PMID: 25124931
Complete mitochondrial genomes for Icelus spatula, Aspidophoroides olrikii and Leptoclinus maculatus: pan-Arctic marine fishes from Canadian waters.
Swanburg T, Horne JB, Baillie S, King SD, McBride MC, Mackley MP, Paterson IG, Bradbury IR, Bentzen P. Swanburg T, et al. Among authors: mackley mp. Mitochondrial DNA A DNA Mapp Seq Anal. 2016 Jul;27(4):2982-3. doi: 10.3109/19401736.2015.1060472. Epub 2015 Jun 30. Mitochondrial DNA A DNA Mapp Seq Anal. 2016. PMID: 26122337
"Not pathogenic until proven otherwise": perspectives of UK clinical genomics professionals toward secondary findings in context of a Genomic Medicine Multidisciplinary Team and the 100,000 Genomes Project.
Ormondroyd E, Mackley MP, Blair E, Craft J, Knight JC, Taylor JC, Taylor J, Watkins H. Ormondroyd E, et al. Among authors: mackley mp. Genet Med. 2018 Mar;20(3):320-328. doi: 10.1038/gim.2017.157. Epub 2017 Oct 26. Genet Med. 2018. PMID: 29261176 Free PMC article.
16 results