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Common variation at 16p11.2 is associated with glycosuria in pregnancy: Findings from a genome-wide association study in European women.

Lee MA, McMahon G, Karhunen V, Wade KH, Corbin LJ, Hughes DA, Smith GD, Lawlor DA, Jarvelin MR, Timpson NJ.

Hum Mol Genet. 2020 Mar 30. pii: ddaa054. doi: 10.1093/hmg/ddaa054. [Epub ahead of print]


New drugs for the treatment of Anderson-Fabry disease.

Feriozzi S, Hughes DA.

J Nephrol. 2020 Mar 20. doi: 10.1007/s40620-020-00721-4. [Epub ahead of print] Review.


A systematic review of economic evaluations of advanced therapy medicinal products.

Lloyd-Williams H, Hughes DA.

Br J Clin Pharmacol. 2020 Mar 10. doi: 10.1111/bcp.14275. [Epub ahead of print] Review.


Lysosomal Acid Lipase Deficiency: Therapeutic Options.

Pastores GM, Hughes DA.

Drug Des Devel Ther. 2020 Feb 11;14:591-601. doi: 10.2147/DDDT.S149264. eCollection 2020. Review.


Cardiomyopathy and kidney function in agalsidase beta-treated female Fabry patients: a pre-treatment vs. post-treatment analysis.

Wanner C, Feldt-Rasmussen U, Jovanovic A, Linhart A, Yang M, Ponce E, Brand E, Germain DP, Hughes DA, Jefferies JL, Martins AM, Nowak A, Vujkovac B, Weidemann F, West ML, Ortiz A.

ESC Heart Fail. 2020 Feb 26. doi: 10.1002/ehf2.12647. [Epub ahead of print]


Medication adherence-Key considerations for clinical pharmacologists.

Hughes DA.

Br J Clin Pharmacol. 2020 Apr;86(4):628-629. doi: 10.1111/bcp.14228. Epub 2020 Feb 25. No abstract available.


High-pressure strengthening in ultrafine-grained metals.

Zhou X, Feng Z, Zhu L, Xu J, Miyagi L, Dong H, Sheng H, Wang Y, Li Q, Ma Y, Zhang H, Yan J, Tamura N, Kunz M, Lutker K, Huang T, Hughes DA, Huang X, Chen B.

Nature. 2020 Mar;579(7797):67-72. doi: 10.1038/s41586-020-2036-z. Epub 2020 Feb 24.


Supporting people with type 2 diabetes in effective use of their medicine through mobile health technology integrated with clinical care (SuMMiT-D Feasibility): a randomised feasibility trial protocol.

Farmer A, Allen J, Bartlett K, Bower P, Chi Y, French D, Gudgin B, Holmes EA, Horne R, Hughes DA, Kenning C, Locock L, McSharry J, Miles L, Newhouse N, Rea R, Riga E, Tarassenko L, Velardo C, Williams N, Williams V, Yu LM; SuMMiT-D Collaborative Group.

BMJ Open. 2019 Dec 29;9(12):e033504. doi: 10.1136/bmjopen-2019-033504.


The New and Non-Transparent Cancer Drugs Fund.

Wood EM, Hughes DA.

Pharmacoeconomics. 2020 Jan;38(1):1-4. doi: 10.1007/s40273-019-00871-9. No abstract available.


Myocardial Storage, Inflammation, and Cardiac Phenotype in Fabry Disease After One Year of Enzyme Replacement Therapy.

Nordin S, Kozor R, Vijapurapu R, Augusto JB, Knott KD, Captur G, Treibel TA, Ramaswami U, Tchan M, Geberhiwot T, Steeds RP, Hughes DA, Moon JC.

Circ Cardiovasc Imaging. 2019 Dec;12(12):e009430. doi: 10.1161/CIRCIMAGING.119.009430. Epub 2019 Dec 12.


Health Utilities and Costs for Motor Neurone Disease.

Moore A, Young CA, Hughes DA.

Value Health. 2019 Nov;22(11):1257-1265. doi: 10.1016/j.jval.2019.05.011. Epub 2019 Aug 1.


Developing patient-centred, feasible alternative care for adult emergency department users with epilepsy: protocol for the mixed-methods observational 'Collaborate' project.

Noble AJ, Mathieson A, Ridsdale L, Holmes EA, Morgan M, McKinlay A, Dickson JM, Jackson M, Hughes DA, Goodacre S, Marson AG.

BMJ Open. 2019 Nov 2;9(11):e031696. doi: 10.1136/bmjopen-2019-031696.


A Fully Integrated Real-Time Detection, Diagnosis, and Control of Community Diarrheal Disease Clusters and Outbreaks (the INTEGRATE Project): Protocol for an Enhanced Surveillance System.

McIntyre KM, Bolton FJ, Christley RM, Cleary P, Deja E, Durie AE, Diggle PJ, Hughes DA, de Lusignan S, Orton L, Radford AD, Elliot AJ, Smith GE, Snape DA, Stanistreet D, Vivancos R, Winstanley C, O'Brien SJ.

JMIR Res Protoc. 2019 Sep 26;8(9):e13941. doi: 10.2196/13941.


Challenges for Economic Evaluation of Health Care Strategies to Contain Antimicrobial Resistance.

Holmes EAF, Hughes DA.

Antibiotics (Basel). 2019 Sep 27;8(4). pii: E166. doi: 10.3390/antibiotics8040166.


Measuring disease activity and patient experience remotely using wearable technology and a mobile phone app: outcomes from a pilot study in Gaucher disease.

Donald A, Cizer H, Finnegan N, Collin-Histed T, Hughes DA, Davies EH.

Orphanet J Rare Dis. 2019 Sep 5;14(1):212. doi: 10.1186/s13023-019-1182-6.


Study of indications for cardiac device implantation and utilisation in Fabry cardiomyopathy.

Vijapurapu R, Geberhiwot T, Jovanovic A, Baig S, Nordin S, Kozor R, Leyva F, Kotecha D, Wheeldon N, Deegan P, Rusk RA, Moon JC, Hughes DA, Woolfson P, Steeds RP.

Heart. 2019 Dec;105(23):1825-1831. doi: 10.1136/heartjnl-2019-315229. Epub 2019 Aug 24.


Value Assessment and Quantitative Benefit-Risk Modelling of Biosimilar Infliximab for Crohn's Disease.

Catt H, Bodger K, Kirkham JJ, Hughes DA.

Pharmacoeconomics. 2019 Dec;37(12):1509-1523. doi: 10.1007/s40273-019-00826-0.


Medicines Shortages in the United Kingdom.

Hughes DA.

Clin Pharmacol Ther. 2019 Oct;106(4):712. doi: 10.1002/cpt.1495. Epub 2019 Jun 25. No abstract available.


Reply to: Retesting the influences of mutation accumulation and antagonistic pleiotropy on human senescence and disease.

Rodríguez JA, Farré X, Muntané G, Marigorta UM, Hughes DA, Spataro N, Bosch E, Navarro A.

Nat Ecol Evol. 2019 Jul;3(7):994-995. doi: 10.1038/s41559-019-0926-y. Epub 2019 Jun 24. No abstract available.


Evolution of prodromal parkinsonian features in a cohort of GBA mutation-positive individuals: a 6-year longitudinal study.

Avenali M, Toffoli M, Mullin S, McNeil A, Hughes DA, Mehta A, Blandini F, Schapira AHV.

J Neurol Neurosurg Psychiatry. 2019 Oct;90(10):1091-1097. doi: 10.1136/jnnp-2019-320394. Epub 2019 Jun 20.


Assessment of reproducibility and biological variability of fasting and postprandial plasma metabolite concentrations using 1H NMR spectroscopy.

Li-Gao R, Hughes DA, le Cessie S, de Mutsert R, den Heijer M, Rosendaal FR, Willems van Dijk K, Timpson NJ, Mook-Kanamori DO.

PLoS One. 2019 Jun 20;14(6):e0218549. doi: 10.1371/journal.pone.0218549. eCollection 2019.


A randomised controlled trial evaluating arrhythmia burden, risk of sudden cardiac death and stroke in patients with Fabry disease: the role of implantable loop recorders (RaILRoAD) compared with current standard practice.

Vijapurapu R, Kozor R, Hughes DA, Woolfson P, Jovanovic A, Deegan P, Rusk R, Figtree GA, Tchan M, Whalley D, Kotecha D, Leyva F, Moon J, Geberhiwot T, Steeds RP.

Trials. 2019 May 31;20(1):314. doi: 10.1186/s13063-019-3425-1.


Adalimumab in combination with methotrexate for refractory uveitis associated with juvenile idiopathic arthritis: a RCT.

Ramanan AV, Dick AD, Jones AP, Hughes DA, McKay A, Rosala-Hallas A, Williamson PR, Hardwick B, Hickey H, Rainford N, Hickey G, Kolamunnage-Dona R, Culeddu G, Plumpton C, Wood E, Compeyrot-Lacassagne S, Woo P, Edelsten C, Beresford MW.

Health Technol Assess. 2019 Apr;23(15):1-140. doi: 10.3310/hta23150.


Integration of Pharmacometrics and Pharmacoeconomics to Quantify the Value of Improved Forgiveness to Nonadherence: A Case Study of Novel Xanthine Oxidase Inhibitors for Gout.

Hill-McManus D, Marshall S, Soto E, Hughes DA.

Clin Pharmacol Ther. 2019 Sep;106(3):652-660. doi: 10.1002/cpt.1454. Epub 2019 May 31.


Continuous subcutaneous insulin infusion versus multiple daily injection regimens in children and young people at diagnosis of type 1 diabetes: pragmatic randomised controlled trial and economic evaluation.

Blair JC, McKay A, Ridyard C, Thornborough K, Bedson E, Peak M, Didi M, Annan F, Gregory JW, Hughes DA, Gamble C; SCIPI investigators.

BMJ. 2019 Apr 3;365:l1226. doi: 10.1136/bmj.l1226.


Safety of switching to Migalastat from enzyme replacement therapy in Fabry disease: Experience from the Phase 3 ATTRACT study.

Hughes DA, Nicholls K, Sunder-Plassmann G, Jovanovic A, Feldt-Rasmussen U, Schiffmann R, Giugliani R, Jain V, Viereck C, Castelli JP, Skuban N, Barth JA, Bichet DG.

Am J Med Genet A. 2019 Jun;179(6):1069-1073. doi: 10.1002/ajmg.a.61105. Epub 2019 Mar 28. No abstract available.



Hughes DA, Culeddu G, Plumpton C, Wood E, Dick AD, Beresford MW, Ramanan AV.

Ophthalmology. 2019 Mar;126(3):e24-e25. doi: 10.1016/j.ophtha.2018.12.005. No abstract available.


Coronary artery disease, genetic risk and the metabolome in young individuals.

Battram T, Hoskins L, Hughes DA, Kettunen J, Ring SM, Smith GD, Timpson NJ.

Version 2. Wellcome Open Res. 2019 Feb 1 [revised 2019 Jan 1];3:114. doi: 10.12688/wellcomeopenres.14788.2. eCollection 2018.


Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study.

Germain DP, Nicholls K, Giugliani R, Bichet DG, Hughes DA, Barisoni LM, Colvin RB, Jennette JC, Skuban N, Castelli JP, Benjamin E, Barth JA, Viereck C.

Genet Med. 2019 Sep;21(9):1987-1997. doi: 10.1038/s41436-019-0451-z. Epub 2019 Feb 6.


A roadmap for high-throughput sequencing studies of wild animal populations using noninvasive samples and hybridization capture.

White LC, Fontsere C, Lizano E, Hughes DA, Angedakin S, Arandjelovic M, Granjon AC, Hans JB, Lester JD, Rabanus-Wallace MT, Rowney C, Städele V, Marques-Bonet T, Langergraber KE, Vigilant L.

Mol Ecol Resour. 2019 May;19(3):609-622. doi: 10.1111/1755-0998.12993.


Cost-Effectiveness Analysis of the Use of Point-of-Care C-Reactive Protein Testing to Reduce Antibiotic Prescribing in Primary Care.

Holmes EAF, Harris SD, Hughes A, Craine N, Hughes DA.

Antibiotics (Basel). 2018 Dec 7;7(4). pii: E106. doi: 10.3390/antibiotics7040106.


Cost-Effectiveness of Panel Tests for Multiple Pharmacogenes Associated With Adverse Drug Reactions: An Evaluation Framework.

Plumpton CO, Pirmohamed M, Hughes DA.

Clin Pharmacol Ther. 2019 Jun;105(6):1429-1438. doi: 10.1002/cpt.1312. Epub 2019 Jan 28.


Mapping ALSFRS-R and ALSUI to EQ-5D in Patients with Motor Neuron Disease.

Moore A, Young CA, Hughes DA.

Value Health. 2018 Nov;21(11):1322-1329. doi: 10.1016/j.jval.2018.05.005. Epub 2018 Jul 26.


Presenting signs and patient co-variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi initiative.

Mehta A, Kuter DJ, Salek SS, Belmatoug N, Bembi B, Bright J, Vom Dahl S, Deodato F, Di Rocco M, Göker-Alpan O, Hughes DA, Lukina EA, Machaczka M, Mengel E, Nagral A, Nakamura K, Narita A, Oliveri B, Pastores G, Pérez-López J, Ramaswami U, Schwartz IV, Szer J, Weinreb NJ, Zimran A.

Intern Med J. 2019 May;49(5):578-591. doi: 10.1111/imj.14156. Review. Erratum in: Intern Med J. 2019 Aug;49(8):1059.


The effect of enzyme replacement therapy on clinical outcomes in female patients with Fabry disease - A systematic literature review by a European panel of experts.

Germain DP, Arad M, Burlina A, Elliott PM, Falissard B, Feldt-Rasmussen U, Hilz MJ, Hughes DA, Ortiz A, Wanner C, Weidemann F, Spada M.

Mol Genet Metab. 2019 Mar;126(3):224-235. doi: 10.1016/j.ymgme.2018.09.007. Epub 2018 Sep 27.


Cost-Effectiveness Analysis of Adalimumab for the Treatment of Uveitis Associated with Juvenile Idiopathic Arthritis.

Hughes DA, Culeddu G, Plumpton CO, Wood E, Dick AD, Jones AP, McKay A, Williamson PR, Compeyrot Lacassagne S, Hardwick B, Hickey H, Woo P, Beresford MW, Ramanan AV.

Ophthalmology. 2019 Mar;126(3):415-424. doi: 10.1016/j.ophtha.2018.09.043. Epub 2018 Oct 16.


Global longitudinal strain, myocardial storage and hypertrophy in Fabry disease.

Vijapurapu R, Nordin S, Baig S, Liu B, Rosmini S, Augusto J, Tchan M, Hughes DA, Geberhiwot T, Moon JC, Steeds RP, Kozor R.

Heart. 2019 Mar;105(6):470-476. doi: 10.1136/heartjnl-2018-313699. Epub 2018 Oct 3.


Patient-Focused Drug Development Methods for Benefit-Risk Assessments: A Case Study Using a Discrete Choice Experiment for Antiepileptic Drugs.

Holmes EAF, Plumpton C, Baker GA, Jacoby A, Ring A, Williamson P, Marson A, Hughes DA.

Clin Pharmacol Ther. 2019 Mar;105(3):672-683. doi: 10.1002/cpt.1231. Epub 2018 Oct 25.


Nerve root block versus surgery (NERVES) for the treatment of radicular pain secondary to a prolapsed intervertebral disc herniation: study protocol for a multi-centre randomised controlled trial.

Wilby MJ, Hopkins C, Bedson E, Howlin S, Burnside G, Conroy EJ, Hughes DA, Sharma M, Marson A, Clark SR, Williamson P.

Trials. 2018 Sep 5;19(1):475. doi: 10.1186/s13063-018-2677-5.


Letter to the Editor. Phase III randomized controlled trials are essential to properly evaluate the role of radiotherapy in WHO grade II meningioma.

Jenkinson MD, Weber DC, Haylock BJ, Sherratt FC, Young B, Weller M, Bulbeck H, Culeddu G, Hughes DA, Brain A, Das K, Preusser M, Francis P, Gamble C.

J Neurosurg. 2018 Oct;129(4):1104-1105. doi: 10.3171/2018.6.JNS181418. Epub 2018 Aug 17. No abstract available.


Generation of osteoclasts from type 1 Gaucher patients and correlation with clinical and genetic features of disease.

Reed MC, Bauernfreund Y, Cunningham N, Beaton B, Mehta AB, Hughes DA.

Gene. 2018 Dec 15;678:196-206. doi: 10.1016/j.gene.2018.08.045. Epub 2018 Aug 9.


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

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

Trials. 2018 Jul 31;19(1):408. doi: 10.1186/s13063-018-2801-6.


European expert consensus statement on therapeutic goals in Fabry disease.

Wanner C, Arad M, Baron R, Burlina A, Elliott PM, Feldt-Rasmussen U, Fomin VV, Germain DP, Hughes DA, Jovanovic A, Kantola I, Linhart A, Mignani R, Monserrat L, Namdar M, Nowak A, Oliveira JP, Ortiz A, Pieroni M, Spada M, Tylki-Szymańska A, Tøndel C, Viana-Baptista M, Weidemann F, Hilz MJ.

Mol Genet Metab. 2018 Jul;124(3):189-203. doi: 10.1016/j.ymgme.2018.06.004. Epub 2018 Jun 12. Review.


ESPACOMP Medication Adherence Reporting Guideline (EMERGE).

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

Ann Intern Med. 2018 Jul 3;169(1):30-35. doi: 10.7326/M18-0543. Epub 2018 Jun 26.


Impact of sphingolipids on osteoblast and osteoclast activity in Gaucher disease.

Reed MC, Schiffer C, Heales S, Mehta AB, Hughes DA.

Mol Genet Metab. 2018 Aug;124(4):278-286. doi: 10.1016/j.ymgme.2018.06.007. Epub 2018 Jun 14.


Gaucher Disease.

Pastores GM, 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; 1993-2020.
2000 Jul 27 [updated 2018 Jun 21].


Core Items for a Standardized Resource Use Measure: Expert Delphi Consensus Survey.

Thorn JC, Brookes ST, Ridyard C, Riley R, Hughes DA, Wordsworth S, Noble SM, Thornton G, Hollingworth W.

Value Health. 2018 Jun;21(6):640-649. doi: 10.1016/j.jval.2017.06.011. Epub 2017 Sep 1.


Biological Processes Modulating Longevity across Primates: A Phylogenetic Genome-Phenome Analysis.

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

Mol Biol Evol. 2018 Aug 1;35(8):1990-2004. doi: 10.1093/molbev/msy105.


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 Sep;11(5):450-460. doi: 10.1111/cts.12559. Epub 2018 May 16. 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.

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