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Publications
Buchanan J, Hill M, Vass CM, Hammond J, Riedijk S, Klapwijk JE, Harding E, Lou S, Vogel I, Hui L, Ingvoldstad-Malmgren C, Soller MJ, Ormond KE, Choolani M, Zheng Q, Chitty LS, Lewis C. Factors that impact on women's decision-making around prenatal genomic tests: an international discrete choice survey. Prenat Diagn. 2022 Jun;42(7):934-46. doi: 10.1002/pd.6159
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
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