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Biological processes modulating longevity across primates: a phylogenetic genome-phenome analysis.

Muntané G, Farré X, Antonio Rodríguez J, Pegueroles C, Hughes DA, de Magalhães JP, Gabaldón T, Navarro A.

Mol Biol Evol. 2018 May 21. doi: 10.1093/molbev/msy105. [Epub ahead of print]


Innovation at the Intersection of Clinical Trials and Real-World Data Science to Advance Patient Care.

Swift B, Jain L, White C, Chandrasekaran V, Bhandari A, Hughes DA, Jadhav PR.

Clin Transl Sci. 2018 May 16. doi: 10.1111/cts.12559. [Epub ahead of print] Review.


Societal Preferences for Funding Orphan Drugs in the United Kingdom: An Application of Person Trade-Off and Discrete Choice Experiment Methods.

Bourke SM, Plumpton CO, Hughes DA.

Value Health. 2018 May;21(5):538-546. doi: 10.1016/j.jval.2017.12.026.


Abundant pseudo-Gaucher cells result in delay in diagnosis of plasma cell myeloma.

Beaton B, Ramaswami U, Hughes DA, Proctor I, Mehta A.

Br J Haematol. 2018 May 9. doi: 10.1111/bjh.15257. [Epub ahead of print] No abstract available.


Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial.

Schiffmann R, Bichet DG, Jovanovic A, Hughes DA, Giugliani R, Feldt-Rasmussen U, Shankar SP, Barisoni L, Colvin RB, Jennette JC, Holdbrook F, Mulberg A, Castelli JP, Skuban N, Barth JA, Nicholls K.

Orphanet J Rare Dis. 2018 Apr 27;13(1):68. doi: 10.1186/s13023-018-0813-7.


Professor Gavin C. Arneil (1923-2018).

Maxwell H, Hughes DA, Beattie TJ.

Pediatr Nephrol. 2018 Apr 23. doi: 10.1007/s00467-018-3956-9. [Epub ahead of print] No abstract available.


Community views on factors affecting medicines resource allocation: cross-sectional survey of 3080 adults in Australia.

Chim L, Salkeld G, Kelly PJ, Lipworth W, Hughes DA, Stockler MR.

Aust Health Rev. 2018 Apr 19. doi: 10.1071/AH16209. [Epub ahead of print]


Phenotype and biochemical heterogeneity in late onset Fabry disease defined by N215S mutation.

Lavalle L, Thomas AS, Beaton B, Ebrahim H, Reed M, Ramaswami U, Elliott P, Mehta AB, Hughes DA.

PLoS One. 2018 Apr 5;13(4):e0193550. doi: 10.1371/journal.pone.0193550. eCollection 2018.


New Medicines in Wales: The All Wales Medicines Strategy Group (AWMSG) Appraisal Process and Outcomes.

Varnava A, Bracchi R, Samuels K, Hughes DA, Routledge PA.

Pharmacoeconomics. 2018 May;36(5):613-624. doi: 10.1007/s40273-018-0632-7.


Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference.

Corbin LJ, Tan VY, Hughes DA, Wade KH, Paul DS, Tansey KE, Butcher F, Dudbridge F, Howson JM, Jallow MW, John C, Kingston N, Lindgren CM, O'Donavan M, O'Rahilly S, Owen MJ, Palmer CNA, Pearson ER, Scott RA, van Heel DA, Whittaker J, Frayling T, Tobin MD, Wain LV, Smith GD, Evans DM, Karpe F, McCarthy MI, Danesh J, Franks PW, Timpson NJ.

Nat Commun. 2018 Feb 19;9(1):711. doi: 10.1038/s41467-018-03109-y. Review.


Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: an international cohort study.

Arends M, Biegstraaten M, Wanner C, Sirrs S, Mehta A, Elliott PM, Oder D, Watkinson OT, Bichet DG, Khan A, Iwanochko M, Vaz FM, van Kuilenburg ABP, West ML, Hughes DA, Hollak CEM.

J Med Genet. 2018 May;55(5):351-358. doi: 10.1136/jmedgenet-2017-104863. Epub 2018 Feb 7.


Economics of Pharmacogenetic-Guided Treatments: Underwhelming or Overstated?

Hughes DA.

Clin Pharmacol Ther. 2018 May;103(5):749-751. doi: 10.1002/cpt.1030. Epub 2018 Feb 13.


The Influence of Patient-Reported Joint Manifestations on Quality of Life in Fabry Patients.

Ivleva A, Weith E, Mehta A, Hughes DA.

JIMD Rep. 2018 Jan 30. doi: 10.1007/8904_2017_84. [Epub ahead of print]


Fludrocortisone-a treatment for tubulopathy post-paediatric renal transplantation: A national paediatric nephrology unit experience.

Ali SR, Shaheen I, Young D, Ramage I, Maxwell H, Hughes DA, Athavale D, Shaikh MG.

Pediatr Transplant. 2018 Mar;22(2). doi: 10.1111/petr.13134. Epub 2018 Jan 18.


Rare disease prevention and treatment: the need for a level playing field.

Hughes DA, Plumpton CO.

Pharmacogenomics. 2018 Feb;19(3):243-247. doi: 10.2217/pgs-2017-0300. Epub 2018 Jan 12.


Economic Impact of Emergency Visits due to Drug-Related Morbidity on a Brazilian Hospital.

Freitas GRM, Tramontina MY, Balbinotto G, Hughes DA, Heineck I.

Value Health Reg Issues. 2017 Dec;14:1-8. doi: 10.1016/j.vhri.2017.03.003. Epub 2017 Apr 25.


Impact of long-term elosulfase alfa on activities of daily living in patients with Morquio A syndrome in an open-label, multi-center, phase 3 extension study.

Hendriksz CJ, Parini R, AlSayed MD, Raiman J, Giugliani R, Mitchell JJ, Burton BK, Guelbert N, Stewart FJ, Hughes DA, Matousek R, Hawley SM, Decker C, Harmatz PR.

Mol Genet Metab. 2018 Feb;123(2):127-134. doi: 10.1016/j.ymgme.2017.11.015. Epub 2017 Dec 5.


Subcutaneous Injection of Adalimumab Trial compared with Control (SCIATiC): a randomised controlled trial of adalimumab injection compared with placebo for patients receiving physiotherapy treatment for sciatica.

Williams NH, Jenkins A, Goulden N, Hoare Z, Hughes DA, Wood E, Foster NE, Walsh DA, Carnes D, Sparkes V, Hay EM, Isaacs J, Konstantinou K, Morrissey D, Karppinen J, Genevay S, Wilkinson C.

Health Technol Assess. 2017 Oct;21(60):1-180. doi: 10.3310/hta21600.


The utility of the FIPI score in predicting long-term clinical outcomes in patients with Fabry disease receiving enzyme replacement therapy with agalsidase alfa.

Mac Lochlainn DJ, McKechnie DGJ, Mehta AB, Hughes DA.

Mol Genet Metab. 2018 Feb;123(2):154-158. doi: 10.1016/j.ymgme.2017.10.001. Epub 2017 Oct 5.


Phenotype, disease severity and pain are major determinants of quality of life in Fabry disease: results from a large multicenter cohort study.

Arends M, Körver S, Hughes DA, Mehta A, Hollak CEM, Biegstraaten M.

J Inherit Metab Dis. 2018 Jan;41(1):141-149. doi: 10.1007/s10545-017-0095-6. Epub 2017 Oct 16.


DNA methylation of methylation complex genes in relation to stress and genome-wide methylation in mother-newborn dyads.

Clukay CJ, Hughes DA, Rodney NC, Kertes DA, Mulligan CJ.

Am J Phys Anthropol. 2018 Jan;165(1):173-182. doi: 10.1002/ajpa.23341. Epub 2017 Oct 13.


Cost-Effectiveness of Pediatric Central Venous Catheters in the UK: A Secondary Publication from the CATCH Clinical Trial.

Ridyard CH, Plumpton CO, Gilbert RE, Hughes DA.

Front Pharmacol. 2017 Sep 19;8:644. doi: 10.3389/fphar.2017.00644. eCollection 2017.


Renal transplant patients' preference for the supply and delivery of immunosuppressants in Wales: a discrete choice experiment.

Hagemi A, Plumpton C, Hughes DA.

BMC Nephrol. 2017 Oct 2;18(1):305. doi: 10.1186/s12882-017-0720-5.


Cost effectiveness analysis of HLA-B*58:01 genotyping prior to initiation of allopurinol for gout.

Plumpton CO, Alfirevic A, Pirmohamed M, Hughes DA.

Rheumatology (Oxford). 2017 Oct 1;56(10):1729-1739. doi: 10.1093/rheumatology/kex253. Review.


Lysosomal Storage Disorders and Malignancy.

Pastores GM, Hughes DA.

Diseases. 2017 Feb 27;5(1). pii: E8. doi: 10.3390/diseases5010008. Review.


Using routinely recorded data in the UK to assess outcomes in a randomised controlled trial: The Trials of Access.

Powell GA, Bonnett LJ, Tudur-Smith C, Hughes DA, Williamson PR, Marson AG.

Trials. 2017 Aug 23;18(1):389. doi: 10.1186/s13063-017-2135-9. Review.


Antagonistic pleiotropy and mutation accumulation influence human senescence and disease.

Rodríguez JA, Marigorta UM, Hughes DA, Spataro N, Bosch E, Navarro A.

Nat Ecol Evol. 2017 Jan 30;1(3):55. doi: 10.1038/s41559-016-0055.


Retrospective study of long-term outcomes of enzyme replacement therapy in Fabry disease: Analysis of prognostic factors.

Arends M, Biegstraaten M, Hughes DA, Mehta A, Elliott PM, Oder D, Watkinson OT, Vaz FM, van Kuilenburg ABP, Wanner C, Hollak CEM.

PLoS One. 2017 Aug 1;12(8):e0182379. doi: 10.1371/journal.pone.0182379. eCollection 2017.


BNDF methylation in mothers and newborns is associated with maternal exposure to war trauma.

Kertes DA, Bhatt SS, Kamin HS, Hughes DA, Rodney NC, Mulligan CJ.

Clin Epigenetics. 2017 Jun 30;9:68. doi: 10.1186/s13148-017-0367-x. eCollection 2017.


Favourable effect of early versus late start of enzyme replacement therapy on plasma globotriaosylsphingosine levels in men with classical Fabry disease.

Arends M, Wijburg FA, Wanner C, Vaz FM, van Kuilenburg ABP, Hughes DA, Biegstraaten M, Mehta A, Hollak CEM, Langeveld M.

Mol Genet Metab. 2017 Jun;121(2):157-161. doi: 10.1016/j.ymgme.2017.05.001. Epub 2017 May 4.


Do guidelines for treating chest disease in children use Cochrane Reviews effectively? A systematic review.

Prayle AP, Cox T, Smith SJ, Rycroft-Malone J, Thomas KS, Hughes DA, Smyth AR.

Thorax. 2017 Apr 26. pii: thoraxjnl-2016-208790. doi: 10.1136/thoraxjnl-2016-208790. [Epub ahead of print]


Exploiting social influence to magnify population-level behaviour change in maternal and child health: study protocol for a randomised controlled trial of network targeting algorithms in rural Honduras.

Shakya HB, Stafford D, Hughes DA, Keegan T, Negron R, Broome J, McKnight M, Nicoll L, Nelson J, Iriarte E, Ordonez M, Airoldi E, Fowler JH, Christakis NA.

BMJ Open. 2017 Mar 13;7(3):e012996. doi: 10.1136/bmjopen-2016-012996.


Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease.

Biegstraaten M, Cox TM, Belmatoug N, Berger MG, Collin-Histed T, Vom Dahl S, Di Rocco M, Fraga C, Giona F, Giraldo P, Hasanhodzic M, Hughes DA, Iversen PO, Kiewiet AI, Lukina E, Machaczka M, Marinakis T, Mengel E, Pastores GM, Plöckinger U, Rosenbaum H, Serratrice C, Symeonidis A, Szer J, Timmerman J, Tylki-Szymańska A, Weisz Hubshman M, Zafeiriou DI, Zimran A, Hollak CEM.

Blood Cells Mol Dis. 2018 Feb;68:203-208. doi: 10.1016/j.bcmd.2016.10.008. Epub 2016 Oct 24.


Societal perspective on access to publicly subsidised medicines: A cross sectional survey of 3080 adults in Australia.

Chim L, Salkeld G, Kelly P, Lipworth W, Hughes DA, Stockler MR.

PLoS One. 2017 Mar 1;12(3):e0172971. doi: 10.1371/journal.pone.0172971. eCollection 2017.


ESPACOMP Medication Adherence Reporting Guidelines (EMERGE): a reactive-Delphi study protocol.

Helmy R, Zullig LL, Dunbar-Jacob J, Hughes DA, Vrijens B, Wilson IB, De Geest S.

BMJ Open. 2017 Feb 10;7(2):e013496. doi: 10.1136/bmjopen-2016-013496.


Affordable orphan drugs: a role for not-for-profit organizations.

Davies EH, Fulton E, Brook D, Hughes DA.

Br J Clin Pharmacol. 2017 Jul;83(7):1595-1601. doi: 10.1111/bcp.13240. Epub 2017 Feb 8. Review.


Fabry Disease.

Mehta A, Hughes DA.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2002 Aug 5 [updated 2017 Jan 5].


Screening, diagnosis, and management of patients with Fabry disease: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference.

Schiffmann R, Hughes DA, Linthorst GE, Ortiz A, Svarstad E, Warnock DG, West ML, Wanner C; Conference Participants.

Kidney Int. 2017 Feb;91(2):284-293. doi: 10.1016/j.kint.2016.10.004. Epub 2016 Dec 18.


Economic Studies in Motor Neurone Disease: A Systematic Methodological Review.

Moore A, Young CA, Hughes DA.

Pharmacoeconomics. 2017 Apr;35(4):397-413. doi: 10.1007/s40273-016-0478-9. Review.


Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.

Hughes DA, Nicholls K, Shankar SP, Sunder-Plassmann G, Koeller D, Nedd K, Vockley G, Hamazaki T, Lachmann R, Ohashi T, Olivotto I, Sakai N, Deegan P, Dimmock D, Eyskens F, Germain DP, Goker-Alpan O, Hachulla E, Jovanovic A, Lourenco CM, Narita I, Thomas M, Wilcox WR, Bichet DG, Schiffmann R, Ludington E, Viereck C, Kirk J, Yu J, Johnson F, Boudes P, Benjamin ER, Lockhart DJ, Barlow C, Skuban N, Castelli JP, Barth J, Feldt-Rasmussen U.

J Med Genet. 2017 Apr;54(4):288-296. doi: 10.1136/jmedgenet-2016-104178. Epub 2016 Nov 10. Erratum in: J Med Genet. 2018 Apr 16;:.


Profitability and Market Value of Orphan Drug Companies: A Retrospective, Propensity-Matched Case-Control Study.

Hughes DA, Poletti-Hughes J.

PLoS One. 2016 Oct 21;11(10):e0164681. doi: 10.1371/journal.pone.0164681. eCollection 2016.


Impact of long-term elosulfase alfa treatment on respiratory function in patients with Morquio A syndrome.

Hendriksz CJ, Berger KI, Parini R, AlSayed MD, Raiman J, Giugliani R, Mitchell JJ, Burton BK, Guelbert N, Stewart F, Hughes DA, Matousek R, Jurecki E, Decker C, Harmatz PR.

J Inherit Metab Dis. 2016 Nov;39(6):839-847. Epub 2016 Aug 23.


Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.

Germain DP, Hughes DA, Nicholls K, Bichet DG, Giugliani R, Wilcox WR, Feliciani C, Shankar SP, Ezgu F, Amartino H, Bratkovic D, Feldt-Rasmussen U, Nedd K, Sharaf El Din U, Lourenco CM, Banikazemi M, Charrow J, Dasouki M, Finegold D, Giraldo P, Goker-Alpan O, Longo N, Scott CR, Torra R, Tuffaha A, Jovanovic A, Waldek S, Packman S, Ludington E, Viereck C, Kirk J, Yu J, Benjamin ER, Johnson F, Lockhart DJ, Skuban N, Castelli J, Barth J, Barlow C, Schiffmann R.

N Engl J Med. 2016 Aug 11;375(6):545-55. doi: 10.1056/NEJMoa1510198.


Pregnancy and associated events in women receiving enzyme replacement therapy for late-onset glycogen storage disease type II (Pompe disease).

Rohman PJ, Scott E, Richfield L, Ramaswami U, Hughes DA.

J Obstet Gynaecol Res. 2016 Oct;42(10):1263-1271. doi: 10.1111/jog.13055. Epub 2016 Jul 7.


Long-term endurance and safety of elosulfase alfa enzyme replacement therapy in patients with Morquio A syndrome.

Hendriksz CJ, Parini R, AlSayed MD, Raiman J, Giugliani R, Solano Villarreal ML, Mitchell JJ, Burton BK, Guelbert N, Stewart F, Hughes DA, Berger KI, Slasor P, Matousek R, Jurecki E, Shaywitz AJ, Harmatz PR.

Mol Genet Metab. 2016 Sep;119(1-2):131-43. doi: 10.1016/j.ymgme.2016.05.018. Epub 2016 Jun 16.


Cost-effectiveness of pharmacogenetic-guided dosing of warfarin in the United Kingdom and Sweden.

Verhoef TI, Redekop WK, Langenskiold S, Kamali F, Wadelius M, Burnside G, Maitland-van der Zee AH, Hughes DA, Pirmohamed M.

Pharmacogenomics J. 2016 Oct;16(5):478-84. doi: 10.1038/tpj.2016.41. Epub 2016 Jun 7.


Fabry in the older patient: Clinical consequences and possibilities for treatment.

Lidove O, Barbey F, Niu DM, Brand E, Nicholls K, Bizjajeva S, Hughes DA.

Mol Genet Metab. 2016 Aug;118(4):319-25. doi: 10.1016/j.ymgme.2016.05.009. Epub 2016 May 14.


Fabry disease: will markers of early disease enable early treatment and better outcomes?

Hughes DA.

Curr Opin Cardiol. 2016 Jul;31(4):434-9. doi: 10.1097/HCO.0000000000000308. Review.


What influences persistence with medicines? A multinational discrete choice experiment of 2549 patients.

Holmes EA, Morrison VL, Hughes DA.

Br J Clin Pharmacol. 2016 Aug;82(2):522-31. doi: 10.1111/bcp.12971. Epub 2016 May 18.


A Systematic Review of Economic Evaluations of Pharmacogenetic Testing for Prevention of Adverse Drug Reactions.

Plumpton CO, Roberts D, Pirmohamed M, Hughes DA.

Pharmacoeconomics. 2016 Aug;34(8):771-93. doi: 10.1007/s40273-016-0397-9. Review.


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