Publications

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Displaying 1 through 24 of 24 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

Garcia Del Blanco B, Otaegui I, Rodriguez-Palomares JF, Bayes-Genis A, Fernandez-Nofrerias E, Vilalta Del Olmo V, Carrillo X, Ibanez B, Worner F, Casanova J, Pueo E, Gonzalez-Juanatey JR, Lopez-Pais J, Bardaji A, Bonet G, Fuertes M, Rodriguez-Sinovas A, Ruiz-Meana M, Inserte J, Barba I, Gomez-Talavera S, Marti G, Serra B, Bellera N, Ojeda-Ramos M, Cuellar H, Valente F, Carmona MA, Miro-Casas E, Marsal JR, Sambola A, Lidon RM, Baneras J, Elizaga J, Padilla F, Barrabes JA, Hausenloy DJ, Ferreira-Gonzalez I, Garcia-Dorado D. Effect of COMBinAtion therapy with remote ischemic conditioning and exenatide on the Myocardial Infarct size: a two-by-two factorial randomized trial (COMBAT-MI). Basic Res Cardiol. 2021 Jan 25;116(1):4. doi: 10.1007/s00395-021-00842-2

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

Lukowski SL, DiTrapani J, Rockwood NJ, Jeon M, Thompson LA, Petrill SA. Etiological distinction across dimensions of math anxiety. Behav Genet. 2019 May;49(3):310-6. doi: 10.1007/s10519-018-09946-3

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

Pajouheshnia R, van Smeden M, Peelen LM, Groenwold RHH. Variation in the measurement of predictors affects the discriminative ability and transportability of a prediction model. Presented at the Methods for Evaluation of Medical Prediction Models, Tests and Biomarkers (MEMTAB) 2018 Symposium; July 2, 2018. Utrecht, The Netherlands. [abstract] Diagn Progn Res. 2018 Jul 2; 2(Suppl 1):40. doi: 10.1186/s41512-018-0036-3

Damen JAAG, Debray TPA, Pajouheshnia R, Reitsma JB, Scholten RJPM, Moons KGM, Hooft L. Empirical evidence on the impact of study characteristics on the performance of prognostic models: a meta-epidemiological study. Presented at the Methods for Evaluation of Medical Prediction Models, Tests and Biomarkers (MEMTAB) 2018 Symposium; July 2, 2018. Utrecht, The Netherlands. [abstract] Diagn Progn Res. 2018 Jul 2; 2(Suppl 1):29-30. doi: 10.1186/s41512-018-0036-3

Pajouheshnia R, Schuster NA, Moons KGM, Rutten FH, Groenwold RHH, Peelen LM. Accounting for time-varying treatments when developing a prognostic model: a case study in patients treated with betablockers. Poster presented at the Methods for Evaluation of Medical Prediction Models, Tests and Biomarkers (MEMTAB) 2018 Symposium; July 2018. Utrecht, Netherlands. [abstract] Diagn Progn Res. 2018 Jul; 2(Supp1):28-9. doi: 10.1186/s41512-018-0036-3

Ensor CR, Iasella CJ, Harrigan (Zhang) KM, Morrell MR, Moore CA, Shigemura N, Zeevi A, McDyer JF, Venkataramanan R. Increasing tacrolimus time-in-therapeutic range is associated with superior one-year outcomes in lung transplant recipients. Am J Transplant. 2018 Jun;18(6):1527-33. doi: 10.1111/ajt.14723

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

Pajouheshnia R, Damen JAAG, Groenwold RHH, Moons KGM, Peelen LM. Treatment use in prognostic model research: a systematic review of cardiovascular prognostic studies. Diagn Progn Res. 2017 Sep 26;1:15. doi: 10.1186/s41512-017-0015-0

Heus P, Damen JAAG, Pajhouheshnia R, Scholten RJPM, Reitsma JM, Collins GS, Altman DG, Moons KGM, Hooft L. More than half of the TRIPOD items are inadequately reported in prediction modelling studies. Poster presented at the Methods for Evaluating Medical Tests and Biomarkers 2016 Symposium; July 19, 2016. Birmingham, UK. [abstract] Diagn Progn Res. 2017 Feb 16; 1(Suppl 1):27. doi: 10.1186/s41512-016-0001-y

Pajouheshnia R, Groenwold R, Moons K, Reitsma J, Peelen L. The effects of treatment use when externally validating a prediction model that did not include treatment as predictor. Presented at the Methods for Evaluating Medical Tests and Biomarkers 2016 Symposium; February 2016. Birmingham, United Kingdom. [abstract] Diagn Progn Res. 2017 Feb 16; 1(Suppl 1):12. doi: 10.1186/s41512-016-0001-y

Pajouheshnia R, Damen J, Groenwold R, Moons K, Peelen L. How treatment use is addressed in prognostic research: a systematic review. Poster presented at the Methods for Evaluating Medical Tests and Biomarkers 2016 Symposium; July 19, 2016. Birmingham, UK. [abstract] Diagn Progn Res. 2017 Feb 16; 1(Suppl 1):19. doi: 10.1186/s41512-016-0001-y

Damen JAAG, Debray TPA, Heus P, Hooft L, Moons KGM, Pajouheshnia R, Reitsma JB, Scholten RJPM. Design characteristics of external validation studies influencing the performance of risk prediction models. Poster presented at the Methods for Evaluating Medical Tests and Biomarkers 2016 Symposium; July 2016. Birmingham, UK. [abstract] Diagn Progn Res. 2017 Feb 16; 1(Suppl 1):21. doi: 10.1186/s41512-016-0001-y

Damen JAAG, Debray TPA, Heus P, Hooft L, Moons KGM, Pajouheshnia R, Reitsma JB, Scholten RJPM. Performance of the Framingham risk models and pooled cohort equations for the prediction of cardiovascular disease in the general population: a meta-analysis. Poster presented at the Methods for Evaluating Medical Tests and Biomarkers 2016 Symposium; July 19, 2016. Birmington, UK. [abstract] Diagn Progn Res. 2017 Feb 16; 1(Suppl 1):20-1. doi: 10.1186/s41512-016-0001-y

Rivero E, Varas-Lorenzo C, Maguire AR, Eisen HJ, Pedersen TR, Nashan B, Elkammas E. 10-Year predicted probability of coronary heart disease in renal transplant recipients treated with everolimus or mmf. Poster presented at the American Transplant Congress; April 2002. Washington, DC. [abstract] Am J Transplant. 2002; 2(Suppl 3):418.