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Assessing disease experience across the life span for individuals with osteogenesis imperfecta: challenges and opportunities for patient-reported outcomes (PROs) measurement: a pilot study.
Tosi LL, Floor MK, Dollar CM, Gillies AP; Members of the Brittle Bone Disease Consortium; Hart TS, Cuthbertson DD, Sutton VR, Krischer JP. Tosi LL, et al. Among authors: gillies ap. Orphanet J Rare Dis. 2019 Jan 29;14(1):23. doi: 10.1186/s13023-019-1004-x. Orphanet J Rare Dis. 2019. PMID: 30696467 Free PMC article.
Musculoskeletal abnormalities in a large international cohort of boys with 49,XXXXY.
Tosi L, Mitchell F, Porter GF, Ruland L, Gropman A, Lasutschinkow PC, Tran SL, Rajah EN, Gillies AP, Hendrie P, Peret R, Sadeghin T, Samango-Sprouse CA. Tosi L, et al. Among authors: gillies ap. Am J Med Genet A. 2021 Dec;185(12):3531-3540. doi: 10.1002/ajmg.a.61578. Epub 2020 Apr 3. Am J Med Genet A. 2021. PMID: 32243688