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Intrafamilial variability of limb-girdle muscular dystrophy, LGMD1D type.
Zima J, Eaton A, Pál E, Till Á, Ito YA, Warman-Chardon J, Hartley T, Cagnone G, Melegh BI; Care4Rare Canada; Boycott KM, Melegh B, Hadzsiev K. Zima J, et al. Among authors: boycott km. Eur J Med Genet. 2020 Feb;63(2):103655. doi: 10.1016/j.ejmg.2019.04.012. Epub 2019 Apr 27. Eur J Med Genet. 2020. PMID: 31034989
Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy.
Aldinger KA, Mosca SJ, Tétreault M, Dempsey JC, Ishak GE, Hartley T, Phelps IG, Lamont RE, O'Day DR, Basel D, Gripp KW, Baker L, Stephan MJ, Bernier FP, Boycott KM, Majewski J; University of Washington Center for Mendelian Genomics; Care4Rare Canada; Parboosingh JS, Innes AM, Doherty D. Aldinger KA, et al. Among authors: boycott km. Am J Hum Genet. 2014 Aug 7;95(2):227-34. doi: 10.1016/j.ajhg.2014.07.007. Am J Hum Genet. 2014. PMID: 25105227 Free PMC article.
Fragile X testing as a second-tier test.
Hartley T, Potter R, Badalato L, Smith AC, Jarinova O, Boycott KM. Hartley T, et al. Among authors: boycott km. Genet Med. 2017 Dec;19(12). doi: 10.1038/gim.2017.147. Epub 2017 Sep 14. Genet Med. 2017. PMID: 28914265 Free article. No abstract available.
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.
278 results