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Publications
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
Perez-Rodon J, Galve E, Perez-Bocanegra C, Soriano-Sanchez T, Recio-Iglesias J, Domingo-Baldrich E, Alzola-Guevara M, Ferriera-Gonzalez I, Marsal JR, Ribera-Sole A, Gutierrez Garcia-Moreno L, Cruz-Carlos LM, Rivas-Gandara N, Roca-Luque I, Francisco-Pascual J, Evangelista-Masip A, Moya-Mitjans A, Garcia-Dorado D. A risk score to predict the absence of left ventricular reverse remodeling: implications for the timing of ICD implantation in primary prevention. J Cardiol. 2018 May;71(5):505-12. doi: 10.1016/j.jjcc.2017.10.019
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