Publications

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Displaying 1 through 16 of 16 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

Joseph MD, Koenig MR, Kuriyama AS, Wang TR, Wesselink AK, Eisenberg ML, Sommer GJ, Rothman KJ, Stuver SO, Wise LA, Hatch EE. A preconception cohort study of sugar-sweetened beverage consumption and semen quality. Andrology. 2024 Mar 7. doi: 10.1111/andr.13615

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

Lund KH, Laursen ASD, Gronborg TK, Toft G, Jacobsen BH, Wang TR, Wesselink AK, Hatch EE, Sommer GJ, Eisenberg ML, Rothman KJ, Sorensen HT, Wise LA, Mikkelsen EM. Perceived stress and semen quality. Andrology. 2023 Jan 1;11(1):45-53. doi: 10.1111/andr.13301

McKinnon CJ, Joglekar DJ, Hatch EE, Rothman KJ, Wesselink AK, Willis MD, Wang TR, Mikkelsen EM, Eisenberg ML, Wise LA. Male personal heat exposures and fecundability: a preconception cohort study. Andrology. 2022 Nov;10(8):1511-21. doi: 10.1111/andr.13242

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

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

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

Basarir H, Brennan A, Jacques R, Pollard D, Stevens K, Freeman J, Wales J, Price K. The cost-effectiveness of the Kids in Control OF Food (KICk-OFF) structured education programme in a paediatric population with type 1 diabetes mellitus in the UK. Poster presented at the 2015 International Society for Pediatric and Adolescent Diabetes (ISPAD) and Australasian Paediatric Endocrine Group (APEG) Joint Conference; October 2015. Brisbane, Australia. [abstract] Pediatr Diabetes. 2015 Oct 6; 16(Suppl 21):85.