Skip to main content
Publications
Swertz M, van Enckevort E, Oliveira JL, Fortier I, Bergeron J, Thurin NH, Hyde E, Kellmann A, Pajouheshnia R, Sturkenboom M, Cunnington M, Nybo Andersen A-M, Marcon Y, Goncalves G, Gini R. Towards an interoperable ecosystem of research cohort and real-world data catalogues enabling multi-center studies. Yearb Med Inform. 2022 Aug;31(1):262-72. doi: 10.1055/s-0042-1742522
Peay HL, Fischer R, Mange B, Paquin RS, Smith EC, Sadosky A, Russo L, Ricotti V, Rensch C, Morris C, Martin AS, Ganot A, Beaverson K, Mansfield C. Patients' and caregivers' maximum acceptable risk of death for non-curative gene therapy to treat Duchenne muscular dystrophy. Mol Genet Genomic Med. 2021 May;9(5):e1664. doi: 10.1002/mgg3.1664
Garland J, Stephen J, Class B, Gruber A, Ciccone C, Poliak A, Hayes CP, Singhal V, Slota C, Perreault J, Gavrilova R, Shrader JA, Chittiboina P, Joe G, Heiss J, Gahl WA, Huizing M, Carrillo N, Malicdan MCV. Identification of an Alu element-mediated deletion in the promoter region of GNE in siblings with GNE myopathy. Mol Genet Genomic Med. 2017 Jun 14;5(4):410-7. doi: 10.1002/mgg3.300