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

Esterberg E, Iyer S, Nagar SP, Davis KL, Tannir NM. Real-world treatment patterns and clinical outcomes among patients with advanced renal cell carcinoma. Clin Genitourin Cancer. 2024 Apr;22(2):115-125.e. doi: 10.1016/j.clgc.2023.09.009

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

Bellmunt J, Chang J, Pavilack-Kirker M, Cappelleri JC, Costa N, Esterberg E, Kearney M, Hitchens A, Candrilli SD, Ajmera M. Evaluating real-world characteristics of patients with advanced urothelial carcinoma eligible for avelumab maintenance therapy: a multi-country retrospective medical chart review. Clin Genitourin Cancer. 2023 Aug;21(4):459-66. doi: 10.1016/j.clgc.2023.03.011

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

Stattin P, Westerberg M, Franck Lissbrant I, Hjalm-Eriksson M, Kjellman A, Ullen A, Vassilev Z, Sandstrom P, Weinrib R, Martinez D, Garcia de Albeniz Martinez X. Real world outcomes in patients with metastatic, castration-resistant prostate cancer treated with radium-223 in routine clinical practice in Sweden. Clin Genitourin Cancer. 2022 Sep 9;S1558-7673(22):00194-X. doi: 10.1016/j.clgc.2022.09.002

Morgans A, Grewal S, Hepp Z, Fuldeore R, Odak S, Macahilig C, Shillington A, Sonpavde G. Clinical and patient-reported outcomes of advanced urothelial carcinoma following discontinuation of pd-1/l1 inhibitor therapy. Clin Genitourin Cancer. 2022 Aug 5. doi: 10.1016/j.clgc.2022.08.002

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

Julvez J, Paus T, Bellinger D, Eskenazi B, Tiemeier H, Pearce N, Ritz B, White T, Ramchandani P, Gispert JD, Desrivieres S, Brouwer R, Boucher O, Alemany S, Lopez-Vicente M, Suades-Gonzalez E, Forns J, Grandjean P, Sunyer J. Environment and brain development: challenges in the global context. Neuroepidemiology. 2016;46(2):79-82. doi: 10.1159/000442256

Hess G, Borker R, Fonseca E. Treatment patterns: targeted therapies indicated for first-line management of metastatic renal cell carcinoma in a real-world setting. Clin Genitourin Cancer. 2013 Jun;11(2):161-7. doi: 10.1016/j.clgc.2012.10.003

Forns J, Aranbarri A, Grellier J, Julvez J, Vrijheid M, Sunyer J. A conceptual framework in the study of neuropsychological development in epidemiological studies. Neuroepidemiology. 2012 Jun;38(4):203-8. doi: 10.1159/000337169

Fischer T, Johnsen SP, Pedersen L, Gaist D, Sorensen HT, Rothman KJ. Seasonal variation in hospitalization and case fatality of subarachnoid hemorrhage - A nationwide Danish study on 9,367 patients. Neuroepidemiology. 2005 Jan 1;24(1-2):32-7.

Walker EA, Picker MJ, Granger AL, Dykstra LA. Effects of opioids in morphine-treated pigeons trained to discriminate among morphine, the low-efficacy agonist nalbuphine, and saline. J Pharmacol Exp Ther. 2004 Jul;310(1):150-8.

Rodríguez S, Gaunt TR, O'Dell SD, Chen XH, Gu D, Hawe E, Miller GJ, Humphries SE, Day IN. Haplotypic analyses of the IGF2-INS-TH gene cluster in relation to cardiovascular risk traits. Hum Mol Genet. 2004 Apr;13(7):715-25.

Allen RM, Granger AL, Dykstra LA. The competitive N-methyl-D-aspartate receptor antagonist (-)-6-phosphonomethyl-deca-hydroisoquinoline-3-carboxylic acid (LY235959) potentiates the antinociceptive effects of opioids that vary in efficacy at the mu-opioid receptor. J Pharmacol Exp Ther. 2003 Nov 1;307(2):785-92.

Allen RM, Granger AL, Dykstra LA. Dextromethorphan potentiates the antinociceptive effects of morphine and the delta-opioid agonist SNC80 in squirrel monkeys. J Pharmacol Exp Ther. 2002 Feb 1;300(2):435-41.

Talmud PJ, Hawe E, Martin S, Olivier M, Miller GJ, Rubin EM, Pennacchio LA, Humphries SE. Relative contribution of variation within the APOC3/A4/A5 gene cluster in determining plasma triglycerides. Hum Mol Genet. 2002;11(24):3039-46.