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Lifetime impact of achondroplasia: Current evidence and perspectives on the natural history.
Hoover-Fong J, Cheung MS, Fano V, Hagenas L, Hecht JT, Ireland P, Irving M, Mohnike K, Offiah AC, Okenfuss E, Ozono K, Raggio C, Tofts L, Kelly D, Shediac R, Pan W, Savarirayan R. Hoover-Fong J, et al. Among authors: shediac r. Bone. 2021 May;146:115872. doi: 10.1016/j.bone.2021.115872. Epub 2021 Feb 3. Bone. 2021. PMID: 33545406 Free article. Review.
Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study.
Maghnie M, Semler O, Guillen-Navarro E, Selicorni A, Heath KE, Haeusler G, Hagenäs L, Merker A, Leiva-Gea A, González VL, Raimann A, Rehberg M, Santos-Simarro F, Ertl DA, Gregersen PA, Onesimo R, Landfeldt E, Jarrett J, Quinn J, Rowell R, Pimenta J, Cohen S, Butt T, Shediac R, Mukherjee S, Mohnike K. Maghnie M, et al. Among authors: shediac r. Orphanet J Rare Dis. 2023 Mar 15;18(1):56. doi: 10.1186/s13023-023-02652-2. Orphanet J Rare Dis. 2023. PMID: 36922864 Free PMC article.
Burden and Treatment of Achondroplasia: A Systematic Literature Review.
Murton MC, Drane ELA, Goff-Leggett DM, Shediac R, O'Hara J, Irving M, Butt TJ. Murton MC, et al. Among authors: shediac r. Adv Ther. 2023 Sep;40(9):3639-3680. doi: 10.1007/s12325-023-02549-3. Epub 2023 Jun 29. Adv Ther. 2023. PMID: 37382866 Free PMC article. Review.
Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date.
MacCarrick G, Aradhya S, Bailey M, Chu D, Hunt A, Izzo E, Krakow D, Mackenzie W, Poll S, Raggio C, Shediac R, White KK, McLaughlin HM, Seratti G. MacCarrick G, et al. Among authors: shediac r. Am J Med Genet A. 2024 May 3:e63646. doi: 10.1002/ajmg.a.63646. Online ahead of print. Am J Med Genet A. 2024. PMID: 38702915
Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management.
Solanki GA, Martin KW, Theroux MC, Lampe C, White KK, Shediac R, Lampe CG, Beck M, Mackenzie WG, Hendriksz CJ, Harmatz PR. Solanki GA, et al. Among authors: shediac r. J Inherit Metab Dis. 2013 Mar;36(2):339-55. doi: 10.1007/s10545-013-9586-2. Epub 2013 Feb 6. J Inherit Metab Dis. 2013. PMID: 23385297 Free PMC article. Review.
20 results