Publications

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Displaying 1 through 20 of 20 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

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

Soler MJ, Ribera A, Marsal JR, Mendez AB, Andres M, Azancot MA, Oristrell G, Mendez-Boo L, Cohen J, Barrabes JA, Ferreira-Gonzalez I, Vall d’Hebron COVID-19 Working Group. Association of renin-angiotensin system blockers with COVID-19 diagnosis and prognosis in patients with hypertension: a population-based study. Clin Kidney J. 2021 Sep 3;15(1):79-94. doi: 10.1093/ckj/sfab161

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

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

Silva PS, El-Rami H, Barham R, Gupta A, Fleming A, van Hemert J, Cavallerano JD, Sun JK, Aiello LP. Hemorrhage and/or microaneurysm severity and count in ultrawide field images and early treatment diabetic retinopathy study photography. Ophthalmology. 2017 Jul 1;124(7):970-6. doi: 10.1016/j.ophtha.2017.02.012.

Rak EC, Hooper SR, Belsante MJ, Burnett O, Layton B, Tauer D, Mantoo B, DeWalt D, Ferris ME. Caregiver word reading literacy and health outcomes among children treated in a pediatric nephrology practice. Clin Kidney J. 2016 Jun;9(3):510-5. doi: 10.1093/ckj/sfw015

Yuan BG, Tham VM, Browne EN, Weinrib R, Borkar DS, Parker JV, Uchida A, Vinoya AC, Acharya NR. Association between smoking and uveitis: results from the Pacific Ocular Inflammation study. Ophthalmology. 2015 Jun;122(6):1257-61. doi: 10.1016/j.ophtha.2015.02.03

Rathinam SR, Babu M, Thundikandy R, Kanakath A, Nardone N, Esterberg E, Lee SM, Enanoria WT, Porco TC, Browne EN, Weinrib R, Acharya NR. A randomized clinical trial comparing methotrexate and mycophenolate mofetil for noninfectious uveitis. Ophthalmology. 2014 Oct;121(10):1863-70. doi: 10.1016/j.ophtha.2014.04.023

Yucel YH, Gupta N, Kagan DB, Khan AM, Navajas EV, Jin Y-P. Author reply. Ophthalmology. 2013 Jul;120(7):E42-3. doi: 10.1016/j.ophtha.2013.03.038

Borkar DS, Tham VM, Esterberg E, Ray KJ, Vinoya AC, Parker JV, Uchida A, Acharya NR. Incidence of herpes zoster ophthalmicus: results from the Pacific Ocular Inflammation Study. Ophthalmology. 2013 Mar;120(3):451-6. doi: 10.1016/j.ophtha.2012.09.007

Khan AM, Kagan DB, Gupta N, Navajas EV, Jin Y-P, Yucel YH. Ciliary body lymphangiogenesis in uveal melanoma with and without extraocular extension. Ophthalmology. 2013 Feb;120(2):306-10. doi: 10.1016/j.ophtha.2012.07.064

Bushel PR, Hamadeh H, Bennett L, Sieber S, Martin K, Nuwaysir EF, Johnson K, Reynolds K, Paules RS, Afshari CA. MAPS: a microarray project system for gene expression experiment information and data validation. Bioinformatics. 2001 Jun 1;17(6):564-5.