Publications

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Displaying 1 through 19 of 19 publications.

Mansfield C, Boeri M, Coulter J, Baranowski E, Sparks S, An Haack K, Hamed A. The value of knowing: preferences for genetic testing to diagnose rare muscle diseases. Orphanet J Rare Dis. 2024 Apr 22;19(1):173. doi: 10.1186/s13023-024-03160-7

Yee KS, Alexanderian D, Martin S, Olayinka-Amao B, Whiteman DAH. Clinical investigator perspectives on patient outcomes in children with neuronopathic mucopolysaccharidosis II during intrathecal idursulfase-IT treatment. Orphanet J Rare Dis. 2024 Apr 12;19(1):148. doi: 10.1186/s13023-024-03147-4

Tam S, Neslund-Dudas C, Barrett AM, Barrow LCJ, Fridman I, Kinlaw AC, Puviindran P, Royce TJ, Smith AB, Stein JN, Wood WA, Lafata JE. The perceived usability of virtual visits among black adults' receiving oncology care: a qualitative analysis. Oncologist. 2024 Feb 2;29(2):e237-47. doi: 10.1093/oncolo/oyad260

Bergerot C, Young Rha S, Pal S, Koralewski P, Stroyakovskiy D, Alekseev B, Parnis F, Castellano D, Lyun Lee J, Sunela K, Ciuleanu T, Heng D, Glen H, Wang J, Bennett L, Pan J, O'Hara K, Puente J. Health-related quality of life outcomes with two different starting doses of lenvatinib in combination with everolimus for previously treated renal cell carcinoma. Oncologist. 2023 Jan 18;28(1):59-71. doi: 10.1093/oncolo/oyac142

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

Foreman PK, Margulis AV, Alexander K, Shediac R, Calingaert B, Harding A, Pladevall-Vila M, Landis S. Birth prevalence of phenylalanine hydroxylase deficiency: a systematic literature review and meta-analysis. Orphanet J Rare Dis. 2021 Jun 3;16(1):253. doi: 10.1186/s13023-021-01874-6

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

Garcia-Albeniz X, Alonso V, Escudero P, Méndez M, Gallego J, Rodríguez JR, Salud A, Fernández-Plana J, Manzano H, Zanui M, Falcó E, Feliu J, Gil M, Fernández-Martos C, Bohn U, Alonso C, Calderero V, Rojo F, Cuatrecasas M, Maurel J. Prospective biomarker study in advanced RAS wild‐type colorectal cancer: POSIBA Trial (GEMCAD 10‐02). Oncologist. 2019 Nov;24(11):e1115-22. doi: 10.1634/theoncologist.2018-0728

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

Harrington M, Whalley D, Twiss J, Rushton R, Martin S, Huynh L, Yang H. Insights into the natural history of metachromatic leukodystrophy from interviews with caregivers. Orphanet J Rare Dis. 2019 Apr 29;14(1):89. doi: 10.1186/s13023-019-1060-2

Perez-Rodon J, Galve E, Perez-Bocanegra C, Soriano-Sanchez T, Recio-Iglesias J, Domingo-Baldrich E, Alzola-Guevara M, Ferriera-Gonzalez I, Marsal JR, Ribera-Sole A, Gutierrez Garcia-Moreno L, Cruz-Carlos LM, Rivas-Gandara N, Roca-Luque I, Francisco-Pascual J, Evangelista-Masip A, Moya-Mitjans A, Garcia-Dorado D. A risk score to predict the absence of left ventricular reverse remodeling: implications for the timing of ICD implantation in primary prevention. J Cardiol. 2018 May;71(5):505-12. doi: 10.1016/j.jjcc.2017.10.019

Postmus D, Richard S, Bere N, van Valkenhoef G, Galinsky J, Low E, Moulon I, Mavris M, Salmonsson T, Flores B, Hillege H, Pignatti F. Individual trade‐offs between possible benefits and risks of cancer treatments: results from a stated preference study with patients with multiple myeloma. Oncologist. 2018 Jan;23(1):44-51. doi: 10.1634/theoncologist.2017-0257

Downey CL, Fatuga G. Global training initiative challenges: an American perspective. International pharmaceutical Industry. 2009;1.