Publications

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Displaying 1 through 3 of 3 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

Doherty K, Barry M, Belisario JM, Morrison C, Car J, Doherty G. Personal information and public health: design tensions in sharing and monitoring wellbeing in pregnancy. Int J Hum Comput Stud. 2020 Mar;135:102373. doi: 10.1016/j.ijhcs.2019.102373

Raspa M, Sacco P, Candrilli SD, Bishop E, Petrillo J. Validity of a condition specific outcome measure for fragile X syndrome: the Aberrant Behaviour Checklist-utility index. J Intellect Disabil Res. 2016 Sep;60(9):844-55. doi: 10.1111/jir.12264