Publications

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Displaying 1 through 23 of 23 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

Huisman MV, Teutsch C, Lu S, Diener HC, Dubner SJ, Halperin JL, Ma CS, Rothman KJ, Lohmann R, Gurusamy VK, Bartels DB, Lip GYH, GLORIA-AF Investigators. Dabigatran versus vitamin K antagonists for atrial fibrillation in clinical practice: final outcomes from Phase III of the GLORIA-AF registry. Clin Res Cardiol. 2022 May;111(5):548-59. doi: 10.1007/s00392-021-01957-1

Lip GYH, Kotalczyk A, Teutsch C, Diener HC, Dubner SJ, Halperin JL, Ma CS, Rothman KJ, Marler S, Gurusamy VK, Huisman MV, GLORIA-AF Investigators. Comparative effectiveness and safety of non-vitamin K antagonists for atrial fibrillation in clinical practice: GLORIA-AF Registry. Clin Res Cardiol. 2022 May;111(5):560-73. doi: 10.1007/s00392-022-01996-2

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

Abdul-Jawad Altisent O, Ferreira-Gonzalez I, Marsal JR, Ribera A, Auger C, Ortega G, Cascant P, Urena M, Del Blanco BG, Serra V, Sureda C, Igual A, Rovira A, González-Alujas MT, Gonzalez A, Puri R, Cuellar H, Tornos P, Rodes-Cabau J, Garcia-Dorado D. Neurological damage after transcatheter aortic valve implantation compared with surgical aortic valve replacement in intermediate risk patients. Clin Res Cardiol. 2016 Jun;105(6):508-17. doi: 10.1007/s00392-015-0946-9

Macdougall JE, Johnston JM, Lavins BJ, Nelson LM, Williams VS, Carson RT, Shiff SJ, Shi K, Kurtz CB, Baird MJ, Currie MG, Lembo AJ. An evaluation of the FDA Responder Endpoint for IBS-C clinical trials: analysis of data from linaclotide Phase 3 clinical trials. Neurogastroenterol Motil. 2013 Jun;25(6):481-6. doi: 10.1111/nmo.12089

Nelson LM, Williams VSL, Fehnel SE, Tourkodimitris S, Baird MJ, Carson RT, Johnston JM. Psychometric evaluation of patient-reported outcome measures for assessing chronic constipation symptom severity and change: results from phase 2b and phase 3 trials of linaclotide. Presented at the Joint International Neurogastroenterology and Motility Meeting; September 2012. [abstract] Neurogastroenterol Motil. 2012 Sep 6; 24(Suppl. s2):180.

Spiegel BMR, Locke G, Kurtz CM, Williams VSL, Nelson LM, Carson RT, Currie MG, Schneier HA, Johnston JM. Clinically meaningful change benchmarks for IBS-C symptoms developed using data from two phase 3 trials of linaclotide. Presented at the Joint International Neurogastroenterology and Motility Meeting; September 2012. Bologna, Italy. [abstract] Neurogastroenterol Motil. 2012 Sep; 24(s2):35.

Nelson LM, Williams VSL, Carson RT, Baird MJ, Fehnel SE, Johnston JM. Factor analyses of patient-reported outcome measures in Irritable Bowel Syndrome with Constipation (IBSC): results from two randomized, double-blind, placebo-controlled phase 3 trials of linaclotide. Poster presented at the Joint International Neurogastroenterology and Motility Meeting; September 2012. Bologna, Italy. [abstract] Neurogastroenterol Motil. 2012 Sep 1; 24(Suppl. 2):106. doi: 10.1111/j.1365-2982.2012.01997.x

Carson RT, Nelson LM, Williams VSL, Fehnel SE, Tourkodimitris S, Baird MJ, Johnston JM. Psychometric evaluation of patient-reported outcome measures for assessing IBS-C symptom severity and change: results from two randomized, double-blind, placebo-controlled phase 3 trials of linaclotide. Poster presented at the Joint International Neurogastroenterology and Motility Meeting; September 2012. [abstract] Neurogastroenterol Motil. 2012 Sep 1; 24(Suppl. 2):179.

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.

Suit HD, Sedlacek R, Fagundes L, Goitein M, Rothman KJ. Time distribution of recurrences of an immunogenic and non-immunogenic tumor following local irradiation. Radiat Res. 1978 Feb;73(2):251-66.