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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
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
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
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
Nabbout R, Auvin S, Cross JH, Guerrini R, Scheffer I, Thiele E, Chiron C, Irwin J, Mistry A, Williamson N, Grimes R, Bennett B. Cultural relevance of the global impact of Dravet Syndrome in Australia, Italy, the US and UK. Eur J Paediatr Neuro. 2017 Jun 1;21(Suppl 1):E187. doi: 10.1016/j.ejpn.2017.04.777