Publications

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Displaying 1 through 22 of 22 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

Fleming AD, Mellor J, Jiang W, Storkey A, Styles CJ, McKeigue PM, Colhoun HM. Safe and efficient 2-year screening intervals allocated by manual and automated grading in nationwide diabetic retinopathy screening. Poster presented at the 58th EASD Annual Meeting; September 19, 2022. Stockholm, Sweden. [abstract] Diabetologia. 2022 Aug 3; 65(supplement 1):372. doi: 10.1007/s00125-022-05755-w

Mellor J, Jiang W, Fleming AD, Styles CJ, Storkey A, McKeigue PM, Colhoun HM, Scottish Diabetes Research Network. Evaluation of deep learning prediction models for cardiovascular risk prediction using fundus images from the Scottish Diabetic Retinopathy Screening programme. Poster presented at the 58th EASD Annual Meeting of the European Association for the Study of Diabetes; September 19, 2022. Stockholm, Sweden. [abstract] Diabetologia. 2022 Aug 3; 65(Supple 1):S408-9. doi: 10.1007/s00125-022-05755-w

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

Margulis AV, Hallas J, Pottegard A, Kristiansen NS, Atsma WJ, Franks B, D´Silva M, Varas-Lorenzo C, Perez-Gutthann S, Arana A. Comparison of cardiovascular events among treatments for overactive bladder: a Danish nationwide cohort study. Eur J Clin Pharmacol. 2018 Feb;74(2):193-9. doi: 10.1007/s00228-017-2359-3

Afonso A, Schmiedl S, Becker C, Tcherny-Lessenot S, Primatesta P, Plana E, Souverein P, Wang Y, Korevaar JC, Hasford J, Reynolds R, de Groot MC, Schlienger R, Klungel O, Rottenkolber M. A methodological comparison of two European primary care databases and replication in a US claims database: inhaled long-acting beta-2-agonists and the risk of acute myocardial infarction. Eur J Clin Pharmacol. 2016 Sep;72(9):1105-16.

Williams PA, Cates SC, Blitstein JL, Hersey JC, Kosa KM, Long VA, Singh A, Berman D. Evaluating the impact of six Supplemental Nutrition Assistance Program Education interventions on children's at-home diets. Health Educ Behav. 2015 Jun;42(3):329-38. doi: 10.1177/1090198114558589

Gulmez SE, Larrey D, Pageaux GP, Lignot-Maleyran S, de Vries C, Sturkenboom M, Perez-Gutthann S, Benichou J, Bissoli F, Horsmans Y, Bernuau J, Stricker B, Thorburn D, Blin P, Moore N. Methodology for a multinational case–population study on liver toxicity risks with NSAIDs: the Study of Acute Liver Transplant (SALT). Eur J Clin Pharmacol. 2013 Mar 1;69(3):605-16.

Berria R, Rosenstock J, Silberman C, Davis KL, Horton ES. Weight loss and associated changes in glycaemic control and cardiovascular biomarkers in patients with type 2 diabetes mellitus receiving incretin therapies in a large cohort database. Poster presented at the 44th General Assembly of the European Association for the Study of Diabetes; September 2009. [abstract] Diabetologia. 2009 Sep; 52(Suppl. 1, Abst.755):S297.

Sakamoto C, Sugano K, Ota S, Sakaki N, Takahashi S, Yoshida Y, Tsukui T, Osawa H, Sakurai Y, Yoshino J, Mizokami Y, Mine T, Arakawa T, Kuwayama H, Saigenji K, Yakabi K, Chiba T, Shimosegawa T, Sheehan JE, Perez-Gutthann S, Yamaguchi T, Kaufman DW, Sato T, Kubota K, Terano A. Case-control study on the association of upper gastrointestinal bleeding and nonsteroidal anti-inflammatory drugs in Japan. Eur J Clin Pharmacol. 2006;62(9):765-72.

Amin RP, Hamadeh HK, Bushel PR, Bennett L, Afshari CA, Paules RS. Genomic interrogation of mechanism(s) underlying cellular responses to toxicants. Toxicology. 2002 Dec 27;181-182:555-63.

Bauman KE, Ennett ST, Foshee VA, Pemberton M, Hicks K. Correlates of participation in a family-directed tobacco and alcohol prevention program for adolescents. Health Educ Behav. 2001 Aug 1;28(4):440-61.

Arboretti R, Tognoni G, Alberti D, Arana A. Pharmacosurveillance and quality of care of thalassaemic patients. A large scale epidemiological survey. Eur J Clin Pharmacol. 2001;56(12):915-22.