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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
Metcalfe KA, Price MA, Mansfield C , Hallett DC, Lindeman GJ, Fairchild A, Posner J, Friedman S, Snyder C, Kathleen Cunningham Foundation Consortium for Research into Familial Breast Cancer, Lynch HT, Evans DG, Narod SA, Liede A. Predictors of long-term cancer-related distress among female BRCA1 and BRCA2 mutation carriers without a cancer diagnosis: an international analysis . Br J Cancer. 2020 Jul 21;123:268-74. doi: 10.1038/s41416-020-0861-3
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
Codony-Servat J, Cuatrecasas M, Asensio E, Montironi C, Martinez-Cardus A, Marin-Aguilera M, Horndler C, Martinez-Balibrea E, Rubini M, Jares P, Reig O, Victoria I, Gaba L, Martin-Richard M, Alonso V, Escudero P, Fernandez-Martos C, Feliu J, Mendez JC, Mendez M, Gallego J, Salud A, Rojo F, Castells A, Prat A, Rosell R, Garcia-Albeniz X , Camps J, Maurel J. Nuclear IGF-1R predicts chemotherapy and targeted therapy resistance in metastatic colorectal cancer . Br J Cancer. 2017 Dec 5;117(12):1777-86. doi: 10.1038/bjc.2017.279.
Garcia-Albeniz X , Rudolph A, Hutter C, White E, Lin Y, Rosse SA, Figueiredo JC, Harrison TA, Jiao S, Brenner H, Casey G, Hudson TJ, Thornquist M, Le Marchand L, Potter J, Slattery ML, Zanke B, Baron JA, Caan BJ, Chanock SJ, Berndt SI, Stelling D, Fuchs CS, Hoffmeister M, Butterbach K, Du M, James Gauderman W, Gunter MJ, Lemire M, Ogino S, Lin J, Hayes RB, Haile RW, Schoen RE, Warnick GS, Jenkins MA, Thibodeau SN, Schumacher FR, Lindor NM, Kolonel LN, Hopper JL, Gong J, Seminara D, Pflugeisen BM, Ulrich CM, Qu C, Duggan D, Cotterchio M, Campbell PT, Carlson CS, Newcomb PA, Giovannucci E, Hsu L, Chan AT, Peters U, Chang-Claude J. CYP24A1 variant modifies the association between use of oestrogen plus progestogen therapy and colorectal cancer risk . Br J Cancer. 2016 Jan 19;114(2):221-9. doi: 10.1038/bjc.2015.443
Serrano NC, Casas JP, Díaz LA, Páez C, Mesa CM, Cifuentes R, Monterrosa A, Bautista A, Hawe E , Hingorani AD, Vallance P, López-Jaramillo P. Endothelial NO synthase genotype and risk of preeclampsia: a multicenter case-control study . J Clin Hypertens (Greenwich). 2004;44(5):702-7.
Miller GJ, Li P, Jones A, Humphries SE, Luong L, Payne JR, Montgomery HE, Hawe E , Dhamrait SS, Wootton PT, Toor IS. Genetic variants of angiotensin II receptors and cardiovascular risk in hypertension . J Clin Hypertens (Greenwich). 2003 Oct;42(4):500-6.