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

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

Marinelli M, Carsin AE, Turner MC, Fernandez-Somoano A, Rodriguez-Dehli AC, Basterrechea M, Santa-Marina L, Iniguez C, Lopez-Espinosa MJ, Sunyer J, Julvez J. Maternal sleep duration and neonate birth weight: a population-based cohort study. Int J Gynaecol Obstet. 2022 Mar;156(3):494-501. doi: 10.1002/ijgo.13685

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

Lucas A, Wilson M, Sings HL, Pugh S, Jones D, Farkouh R, Gessner B, Wasserman M. Estimating the vaccine effectiveness against serotype 3 for the 13-valent pneumococcal conjugate vaccine: a dynamic modeling approach. International journal of infectious diseases and therapy. 2019 Dec;4(4):56-66. doi: 10.11648/j.ijidt.20190404.12

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

Bratlee-Whitaker E, Hill N, Mogle J, Bhang I. Neuroticism biases memory self-report in women. J Women Aging. 2019;33(5):457-72. doi: /10.1080/08952841.2019.1700729

Carrasquilla G, Porras A, Martinez S, DeAntonio R, Devadiga R, Talarico C, Caceres D, Juliao P. Pneumococcal disease mortality in children<5 years of age after pneumococcal conjugate vaccine introduction in Colombia: a time-trend analysis, 2005-2016. Poster presented at the 18th International Congress on Infectious Diseases (ICID); March 1, 2018. Buenos Aires, Argentina. [abstract] International journal of infectious diseases and therapy. 2018 Aug; 73(Supplement). doi: 10.1016/j.ijid.2018.04.3922

Pascale J, Franco D, DeAntonio R, Devadiga R, Juliao P. Prevalence, strain circulation and disease burden of seasonal Influenza A and B in Central America and Caribbean, 2010-2016. Poster presented at the 18th International Congress on Infectious Diseases (ICID); March 1, 2018. Buenos Aires, Argentina. [abstract] International journal of infectious diseases and therapy. 2018 Aug; 73(Supplement):272. doi: 10.1016/j.ijid.2018.04.4036