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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
Carrillo N, Malicdan MC, Leoyklang P, Shrader JA, Joe G, Slota C, Perreault J, Heiss JD, Class B, Liu CY, Bradley K, Jodarski C, Ciccone C, Driscoll C, Parks R, Van Wart S, Bayman L, Coffey CS, Quintana M, Berry SM, Huizing M, Gahl WA. Safety and efficacy of N-acetylmannosamine (ManNAc) in patients with GNE myopathy: an open-label phase 2 study. Genet Med. 2021 Nov;23(11):2067-75. doi: 10.1038/s41436-021-01259-x
Lewis MA, Stine A, Paquin RS, Mansfield C, Wood D, Rini C, Roche MI, Powell CM, Berg JS, Bailey, Jr DB. Parental preferences toward genomic sequencing for non-medically actionable conditions in children: a discrete-choice experiment. Genet Med. 2018 Feb;20(2):181-9. doi: 10.1038/gim.2017.93