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Publications
Forsythe E, Haws RM, Argente J, Beales P, Martos-Moreno GA, Dollfus H, Chirila C, Gnanasakthy A, Buckley BC, Mallya UG, Clement K, Haqq AM. Quality of life improvements following one year of setmelanotide in children and adult patients with Bardet-Biedl syndrome: phase 3 trial results. Orphanet J Rare Dis. 2023 Jan 16;18(1):12. doi: 10.1186/s13023-022-02602-4
Kuhnen P, Wabitsch M, von Schnurbein J, Chirila C, Mallya UG, Callahan P, Gnanasakthy A, Poitou C, Krabusch PM, Stewart M, Clement K. Quality of life outcomes in two phase 3 trials of setmelanotide in patients with obesity due to LEPR or POMC deficiency. Orphanet J Rare Dis. 2022 Feb 5;17(1):38. doi: 10.1186/s13023-022-02186-z
Noel E, Dussol B, Lacombe D, Bedreddine N, Fouilhoux A, Ronco P, Genevaz D, Bekri S, Hagege A, Dupuis-Simeon F, Derrien Ansquer V, Germain DP, Lidove O. Treatment needs and expectations for Fabry disease in France: development of a new Patient Needs Questionnaire. Orphanet J Rare Dis. 2019 Dec 4;14(1):284. doi: 10.1186/s13023-019-1254-7
Paquin RS, Fischer R, Mansfield C, Mange B, Beaverson K, Ganot A, Martin AS, Morris C, Rensch C, Ricotti V, Russo LJ, Sadosky A, Smith EC, Peay H. Priorities when deciding on participation in early-phase gene therapy trials for Duchenne muscular dystrophy: a best–worst scaling experiment in caregivers and adult patients. Orphanet J Rare Dis. 2019 May 9;14(1):102. doi: 10.1186/s13023-019-1069-6
Saigi-Morgui N, Quteineh L, Bochud PY, Crettol S, Kutalik Z, Mueller NJ, Binet I, van Delden C, Steiger J, Mohacsi P, Dufour JF, Soccal PM, Pascual M, Eap CB, Swiss Cohort Study. Genetic and clinic predictors of new onset diabetes mellitus after transplantation. Pharmacogenomics J. 2019 Feb;19(1):53-64. doi: 10.1038/s41397-017-0001-5
Rashid S, Januwalla A, Moore J, Park J, Rup J, Khan A, Straus SE, Tu J, CANHEART SPOR Research Team 2. The Cardiovascular Health in Ambulatory Care Research Team (CANHEART) Initiative: using implementation science to improve dyslipidemia management in Ontario. Poster presented at the International Symposium on Atherosclerosis (ISA) 2018; June 9, 2018. Toronto, Canada. [abstract] Atherosclerosis. 2018 Jun; 32:54-5. doi: 10.1016/j.atherosclerosissup.2018.04.164
Mazurek M, Huisman MV, Rothman KJ, Paquette M, Teutsch C, Diener HC, Dubner SJ, Halperin JL, Ma CS, Zint K, Elsaesser A, Lu S, Lip GYH, GLORIA-AF Investigators. Regional differences in antithrombotic treatment for atrial fibrillation: insights from the GLORIA-AF phase II registry. Thromb Haemost. 2017 Dec;117(12):2376-88. doi: 10.1160/TH17-08-0555
Ireland H, Konstantoulas CJ, Cooper JA, Hawe E, Humphries SE, Mather H, Goodall AH, Hogwood J, Juhan-Vague I, Yudkin JS, di Minno G, Margaglione M, Hamsten A, Miller GJ, Bauer KA, Kim YT, Stearns-Kurosawa DJ, Kurosawa S. EPCR Ser219Gly: elevated sEPCR, prothrombin F1+2, risk for coronary heart disease, and increased sEPCR shedding in vitro. Atherosclerosis. 2005;183(2):283-92.
Morange PE, Saut N, Alessi MC, Frere C, Hawe E, Yudkin JS, Tremoli E, Margaglione M, di Minno G, Hamsten A, Humphries SE, Juhan-Vague I, HIFMECH Study Group. HIFMECH Study Group. Interaction between the C-260T polymorphism of the CD14 gene and the plasma IL-6 concentration on the risk of myocardial infarction: the HIFMECH study. Atherosclerosis. 2005;179(2):317-23.
Mannila MN, Silveira A, Hawe E, Eriksson P, Aillaud MF, Juhan-Vague I, Yudkin J, Margaglione M, di Minno G, Mussoni L, Tremoli E, Humphries S, Hamsten A, HIFMECH Study Group. Plasma fibrinogen concentration predicts the risk of myocardial infarction differently in various parts of Europe: effects of beta-fibrinogen genotype and environmental factors. The HIFMECH Study. Thromb Haemost. 2004 Dec;92(6):1240-9.
Konstantoulas C, Hawe E, Saut N, Yudkin JS, di Minno G, Margaglione M, Hamsten A, Humphries SE, Juhan-Vague I, Ireland H, HIFMECH Study Group. Common variants in the thrombomodulin gene as a risk for myocardial infarction in the north of Europe (HIFMECH Study). Thromb Haemost. 2004 Mar;91(3):628-30.
Elrayess MA, Webb KE, Bellingan GJ, Whittall RA, Kabir J, Hawe E, Syvänne M, Taskinen MR, Frick MH, Nieminen MS, Kesäniemi YA, Pasternack A, Miller GJ, Humphries SE. R643G polymorphism in PECAM-1 influences transendothelial migration of monocytes and is associated with progression of CHD and CHD events. Atherosclerosis. 2004;177(1):105-12.
Kelberman D, Hawe E, Luong LA, Mohamed-Ali V, Lundman P, Tornvall P, Aillaud MF, Juhan-Vague I, Yudkin JS, Margaglione M, di Minno G, Tremoli E, Humphries SE, HIFMECH Study Group. HIFMECH study group. Effect of Interleukin-6 promoter polymorphisms in survivors of myocardial infarction and matched controls in the North and South of Europe. The HIFMECH Study. Thromb Haemost. 2004;92(5):1122-8.