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Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit.
Daoud H, Luco SM, Li R, Bareke E, Beaulieu C, Jarinova O, Carson N, Nikkel SM, Graham GE, Richer J, Armour C, Bulman DE, Chakraborty P, Geraghty M, Lines MA, Lacaze-Masmonteil T, Majewski J, Boycott KM, Dyment DA. Daoud H, et al. Among authors: boycott km. CMAJ. 2016 Aug 9;188(11):E254-E260. doi: 10.1503/cmaj.150823. Epub 2016 May 30. CMAJ. 2016. PMID: 27241786 Free PMC article.
Atypical fibrodysplasia ossificans progressiva diagnosed by whole-exome sequencing.
Liu H, Sawyer SL, Gos M, Grynspan D, Issa K, Ramphal R, Rotaru C; FORGE Canada Consortium; Majewski J, Boycott KM, Graham G, Bromwich M. Liu H, et al. Among authors: boycott km. Am J Med Genet A. 2015 Jun;167(6):1337-41. doi: 10.1002/ajmg.a.36969. Epub 2015 Apr 21. Am J Med Genet A. 2015. PMID: 25899773
Direct health-care costs for children diagnosed with genetic diseases are significantly higher than for children with other chronic diseases.
Marshall DA, Benchimol EI, MacKenzie A, Duque DR, MacDonald KV, Hartley T, Howley H, Hamilton A, Gillespie M, Malam F, Boycott KM. Marshall DA, et al. Among authors: boycott km. Genet Med. 2019 May;21(5):1049-1057. doi: 10.1038/s41436-018-0289-9. Epub 2018 Sep 24. Genet Med. 2019. PMID: 30245512 Free article. Review.
The complexity of diagnosing rare disease: An organizing framework for outcomes research and health economics based on real-world evidence.
Hayeems RZ, Michaels-Igbokwe C, Venkataramanan V, Hartley T, Acker M, Gillespie M, Ungar WJ, Mendoza-Londona R, Bernier FP, Boycott KM, Marshall DA. Hayeems RZ, et al. Among authors: boycott km. Genet Med. 2022 Mar;24(3):694-702. doi: 10.1016/j.gim.2021.11.005. Epub 2021 Dec 3. Genet Med. 2022. PMID: 34906497 Free article.
286 results