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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
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
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
Pavel M, Horsch D, Anthony L, Ervin C, Kulke MH, Bergsland E, Caplin M, Oberg K, Warner R, Kunz P, Metz DC, Pasieka J, Pavlakis N, DiBenedetti D, Lapuerta P. Patient interviews in TELESTAR, a phase 3 study of telotristat etiprate, report meaningful improvement in carcinoid syndrome. Poster presented at the 2016 European Neuroendocrine Tumor Society (ENETS) Annual Meeting; March 2016. Barcelona, Spain. [abstract] Neuroendocrinology. 2016; 103:89.