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The genetic and biochemical basis of trimethylaminuria in an Irish cohort.
Doyle S, O'Byrne JJ, Nesbitt M, Murphy DN, Abidin Z, Byrne N, Pastores G, Kirk R, Treacy EP. Doyle S, et al. Among authors: kirk r. JIMD Rep. 2019 Mar 25;47(1):35-40. doi: 10.1002/jmd2.12028. eCollection 2019 May. JIMD Rep. 2019. PMID: 31240165 Free PMC article.
The need for biochemical testing in beta-enolase deficiency in the genomic era.
Wigley R, Scalco RS, Gardiner AR, Godfrey R, Booth S, Kirk R, Hilton-Jones D, Houlden H, Heales S, Quinlivan R. Wigley R, et al. Among authors: kirk r. JIMD Rep. 2019 Sep 3;50(1):40-43. doi: 10.1002/jmd2.12070. eCollection 2019 Nov. JIMD Rep. 2019. PMID: 31741825 Free PMC article.
Next Generation Sequencing in Newborn Screening in the United Kingdom National Health Service.
van Campen JC, Sollars ESA, Thomas RC, Bartlett CM, Milano A, Parker MD, Dawe J, Winship PR, Peck G, Grafham D, Kirk RJ, Bonham JR, Goodeve AC, Dalton A. van Campen JC, et al. Among authors: kirk rj. Int J Neonatal Screen. 2019 Dec;5(4):40. doi: 10.3390/ijns5040040. Epub 2019 Nov 5. Int J Neonatal Screen. 2019. PMID: 31844782 Free PMC article.
Response to Finsterer: CPT-II deficiency needs to be detected in army personnel.
Balasubramanian M, Jenkins TM, Kirk RJ, Nesbitt IM, Olpin SE, Hill M, Gillett GT. Balasubramanian M, et al. Among authors: kirk rj. Mol Genet Metab Rep. 2018 Jun 8;16:12. doi: 10.1016/j.ymgmr.2018.06.002. eCollection 2018 Sep. Mol Genet Metab Rep. 2018. PMID: 29992091 Free PMC article. No abstract available.
A genetic study of Wilson's disease in the United Kingdom.
Coffey AJ, Durkie M, Hague S, McLay K, Emmerson J, Lo C, Klaffke S, Joyce CJ, Dhawan A, Hadzic N, Mieli-Vergani G, Kirk R, Elizabeth Allen K, Nicholl D, Wong S, Griffiths W, Smithson S, Giffin N, Taha A, Connolly S, Gillett GT, Tanner S, Bonham J, Sharrack B, Palotie A, Rattray M, Dalton A, Bandmann O. Coffey AJ, et al. Among authors: kirk r. Brain. 2013 May;136(Pt 5):1476-87. doi: 10.1093/brain/awt035. Epub 2013 Mar 21. Brain. 2013. PMID: 23518715 Free PMC article.
The investigation and management of metabolic myopathies.
Olpin SE, Murphy E, Kirk RJ, Taylor RW, Quinlivan R. Olpin SE, et al. Among authors: kirk rj. J Clin Pathol. 2015 Jun;68(6):410-7. doi: 10.1136/jclinpath-2014-202808. Epub 2015 Apr 15. J Clin Pathol. 2015. PMID: 25878327
Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network.
Garrett A, Callaway A, Durkie M, Cubuk C, Alikian M, Burghel GJ, Robinson R, Izatt L, Talukdar S, Side L, Cranston T, Palmer-Smith S, Baralle D, Berry IR, Drummond J, Wallace AJ, Norbury G, Eccles DM, Ellard S, Lalloo F, Evans DG, Woodward E, Tischkowitz M, Hanson H, Turnbull C; CanVIG-UK. Garrett A, et al. J Med Genet. 2020 Dec;57(12):829-834. doi: 10.1136/jmedgenet-2019-106759. Epub 2020 Mar 13. J Med Genet. 2020. PMID: 32170000 Free PMC article.
999 results