Skip to main content
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
Heus P, Damen JAAG, Pajhouheshnia R, Scholten RJPM, Reitsma JM, Collins GS, Altman DG, Moons KGM, Hooft L. More than half of the TRIPOD items are inadequately reported in prediction modelling studies. Poster presented at the Methods for Evaluating Medical Tests and Biomarkers 2016 Symposium; July 19, 2016. Birmingham, UK. [abstract] Diagn Progn Res. 2017 Feb 16; 1(Suppl 1):27. doi: 10.1186/s41512-016-0001-y