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Comparing genome sequencing technologies to improve rare disease diagnostics: a protocol for the evaluation of a pilot project, Genome-wide Sequencing Ontario.
Hayeems RZ, Marshall CR, Gillespie MK, Szuto A, Chisholm C, Stavropoulos DJ, Venkataramanan V, Tsiplova K, Sawyer S, Price EM, Lau L, Khan R, Lee W, Huang L, Jarinova O, Ungar WJ, Mendoza-Londono R, Somerville MJ, Boycott KM. Hayeems RZ, et al. Among authors: huang l. CMAJ Open. 2022 May 24;10(2):E460-E465. doi: 10.9778/cmajo.20210272. Print 2022 Apr-Jun. CMAJ Open. 2022. PMID: 35609929 Free PMC article.
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.
Lines MA, Huang L, Schwartzentruber J, Douglas SL, Lynch DC, Beaulieu C, Guion-Almeida ML, Zechi-Ceide RM, Gener B, Gillessen-Kaesbach G, Nava C, Baujat G, Horn D, Kini U, Caliebe A, Alanay Y, Utine GE, Lev D, Kohlhase J, Grix AW, Lohmann DR, Hehr U, Böhm D; FORGE Canada Consortium; Majewski J, Bulman DE, Wieczorek D, Boycott KM. Lines MA, et al. Among authors: huang l. Am J Hum Genet. 2012 Feb 10;90(2):369-77. doi: 10.1016/j.ajhg.2011.12.023. Epub 2012 Feb 2. Am J Hum Genet. 2012. PMID: 22305528 Free PMC article.
Whole-exome sequencing expands the phenotype of Hunter syndrome.
Nikkel SM, Huang L, Lachman R, Beaulieu CL, Schwartzentruber J, Majewski J, Geraghty MT, Boycott KM; FORGE Canada Consortium. Nikkel SM, et al. Among authors: huang l. Clin Genet. 2014 Aug;86(2):172-6. doi: 10.1111/cge.12236. Epub 2013 Jul 28. Clin Genet. 2014. PMID: 23844659
The Matchmaker Exchange: a platform for rare disease gene discovery.
Philippakis AA, Azzariti DR, Beltran S, Brookes AJ, Brownstein CA, Brudno M, Brunner HG, Buske OJ, Carey K, Doll C, Dumitriu S, Dyke SO, den Dunnen JT, Firth HV, Gibbs RA, Girdea M, Gonzalez M, Haendel MA, Hamosh A, Holm IA, Huang L, Hurles ME, Hutton B, Krier JB, Misyura A, Mungall CJ, Paschall J, Paten B, Robinson PN, Schiettecatte F, Sobreira NL, Swaminathan GJ, Taschner PE, Terry SF, Washington NL, Züchner S, Boycott KM, Rehm HL. Philippakis AA, et al. Among authors: huang l. Hum Mutat. 2015 Oct;36(10):915-21. doi: 10.1002/humu.22858. Hum Mutat. 2015. PMID: 26295439 Free PMC article.
Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutation.
Ejaz R, Qin W, Huang L, Blaser S, Tetreault M, Hartley T, Boycott KM, Carter MT; Care4Rare Canada Consortium. Ejaz R, et al. Among authors: huang l. Am J Med Genet A. 2016 Apr;170A(4):1070-5. doi: 10.1002/ajmg.a.37541. Epub 2016 Jan 11. Am J Med Genet A. 2016. PMID: 26754023
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