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

Yee KS, Lewis S, Evans E, Romano (DeMuro) C, Alexanderian D. Caregiver experiences and observations of intrathecal idursulfase-IT treatment in a phase 2/3 trial in pediatric patients with neuronopathic mucopolysaccharidosis II. Orphanet J Rare Dis. 2024 Mar 10;19(1):100. doi: 10.1186/s13023-024-03034-y

Yee KS, Chirila C, Davenport E, Mladsi D, Barnett C, Kronenberger WG. A post hoc analysis of Projected Retained Ability Scores (PRAS) for the longitudinal assessment of cognitive functioning in patients with neuronopathic mucopolysaccharidosis II receiving intrathecal idursulfase-IT. Orphanet J Rare Dis. 2023 Nov 2;18(1):343. doi: 10.1186/s13023-023-02957-2

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

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

Wheeler AC, Sacco P, Cabo R. Unmet clinical needs and burden in Angelman syndrome: a review of the literature. Orphanet J Rare Dis. 2017 Oct 16;12(1):164. doi: 10.1186/s13023-017-0716-z

Vinceti M, Filippini T, Violi F, Rothman KJ, Costanzini S, Malagoli C, Wise LA, Odone A, Signorelli C, Iacuzio L, Arcolin E, Mandrioli J, Fini N, Patti F, Lo Fermo S, Pietrini V, Teggi S, Ghermandi G, Scillieri R, Ledda C, Mauceri C, Sciacca S, Fiore M, Ferrante M. Pesticide exposure assessed through agricultural crop proximity and risk of amyotrophic lateral sclerosis. Environ Health. 2017 Aug 29;16(1):91. doi: 10.1186/s12940-017-0297-2

Swartz MD, Cai Y, Chan W, Symanski E, Mitchell LE, Danysh HE, Langlois PH, Lupo PJ. Air toxics and birth defects: a Bayesian hierarchical approach to evaluate multiple pollutants and spina bifida. Environ Health. 2015 Feb 9;14:16. doi: 10.1186/1476-069X-14-16

Scheurer ME, Danysh HE, Follen M, Lupo PJ. Association of traffic-related hazardous air pollutants and cervical dysplasia in an urban multiethnic population: a cross-sectional study. Environ Health. 2014 Jun 13;13(1):52. doi: 10.1186/1476-069X-13-52

Casas L, Tischer C, Wouters IM, Torrent M, Gehring U, Garcia-Esteban R, Thiering E, Postma DS, de Jongste J, Smit HA, Borras-Santos A, Zock JP, Hyvarinen A, Heinrich J, Sunyer J. Early life microbial exposure and fractional exhaled nitric oxide in school-age children: a prospective birth cohort study. Environ Health. 2013 Dec 2;12:103. doi: 10.1186/1476-069X-12-103

Nieuwenhuijsen MJ, Dadvand P, Grellier J, Martinez D, Vrijheid M. Environmental risk factors of pregnancy outcomes: a summary of recent meta-analyses of epidemiological studies. Environ Health. 2013 Jan;12(6). doi: 10.1186/1476-069X-12-6

Akashi-Ronquest N, Carrillo P, Dembling B, Stern S. Measuring the biases in self-reported disability status: evidence from aggregate data. Appl Econ Lett. 2011 Feb 23;18(11):1053-60. doi: 10.1080/13504851.2010.524603

Vinceti M, Bonvicini F, Rothman KJ, Vescovi L, Wang FY. The relation between amyotrophic lateral sclerosis and inorganic selenium in drinking water: a population-based case-control study. Environ Health. 2010 Dec 1;9(Art. No. 77).

Rousu M, Kosa K. Allowing options in experimental auctions. Appl Econ Lett. 2005;12(13):817-21. doi: 10.1080/13504850500193059