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Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1.
Jacobsen JC, Glamuzina E, Taylor J, Swan B, Handisides S, Wilson C, Fietz M, van Dijk T, Appelhof B, Hill R, Marks R, Love DR, Robertson SP, Snell RG, Lehnert K. Jacobsen JC, et al. Among authors: robertson sp. Case Rep Genet. 2015;2015:454526. doi: 10.1155/2015/454526. Epub 2015 Oct 26. Case Rep Genet. 2015. PMID: 26587300 Free PMC article.
Genomic medicine must reduce, not compound, health inequities: the case for hauora-enhancing genomic resources for New Zealand.
Robertson SP, Hindmarsh JH, Berry S, Cameron VA, Cox MP, Dewes O, Doughty RN, Gray G, Jacobsen JC, Laurence A, Matisoo-Smith E, Morton S, Shelling AN, Sika-Paotonu D, Rolleston A, Skinner JR, Snell RG, Sporle A, Print C, Merriman TR, Hudson M, Wilcox P. Robertson SP, et al. N Z Med J. 2018 Aug 17;131(1480):81-89. N Z Med J. 2018. PMID: 30116069
Further delineation of short-chain enoyl-CoA hydratase deficiency in the Pacific population.
Bernhardt I, Frajman LE, Ryder B, Andersen E, Wilson C, McKeown C, Anderson T, Coman D, Vincent AL, Buchanan C, Roxburgh R, Pitt J, De Hora M, Christodoulou J, Thorburn DR, Wilson F, Drake KM, Leask M, Yardley AM, Merriman T, Robertson S, Compton AG, Glamuzina E. Bernhardt I, et al. Mol Genet Metab. 2024 Jul;142(3):108508. doi: 10.1016/j.ymgme.2024.108508. Epub 2024 May 25. Mol Genet Metab. 2024. PMID: 38820906
Idiopathic juvenile osteoporosis-a polygenic disorder?
Wade E, Mulholland K, Shaw I, Cundy T, Robertson S. Wade E, et al. JBMR Plus. 2024 Jul 29;8(9):ziae099. doi: 10.1093/jbmrpl/ziae099. eCollection 2024 Sep. JBMR Plus. 2024. PMID: 39193113 Free PMC article.
193 results