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Methodologies for Transcript Profiling Using Long-Read Technologies.
Oikonomopoulos S, Bayega A, Fahiminiya S, Djambazian H, Berube P, Ragoussis J. Oikonomopoulos S, et al. Among authors: fahiminiya s. Front Genet. 2020 Jul 7;11:606. doi: 10.3389/fgene.2020.00606. eCollection 2020. Front Genet. 2020. PMID: 32733532 Free PMC article. Review.
Transcript Profiling Using Long-Read Sequencing Technologies.
Bayega A, Wang YC, Oikonomopoulos S, Djambazian H, Fahiminiya S, Ragoussis J. Bayega A, et al. Among authors: fahiminiya s. Methods Mol Biol. 2018;1783:121-147. doi: 10.1007/978-1-4939-7834-2_6. Methods Mol Biol. 2018. PMID: 29767360
Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome.
Tetreault M, Fahiminiya S, Antonicka H, Mitchell GA, Geraghty MT, Lines M, Boycott KM, Shoubridge EA, Mitchell JJ; Care4Rare Canada Consortium; Michaud JL, Majewski J. Tetreault M, et al. Among authors: fahiminiya s. Hum Genet. 2015 Sep;134(9):981-91. doi: 10.1007/s00439-015-1577-y. Epub 2015 Jun 23. Hum Genet. 2015. PMID: 26099313
DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis.
Rivera B, Nadaf J, Fahiminiya S, Apellaniz-Ruiz M, Saskin A, Chong AS, Sharma S, Wagener R, Revil T, Condello V, Harra Z, Hamel N, Sabbaghian N, Muchantef K, Thomas C, de Kock L, Hébert-Blouin MN, Bassenden AV, Rabenstein H, Mete O, Paschke R, Pusztaszeri MP, Paulus W, Berghuis A, Ragoussis J, Nikiforov YE, Siebert R, Albrecht S, Turcotte R, Hasselblatt M, Fabian MR, Foulkes WD. Rivera B, et al. Among authors: fahiminiya s. J Clin Invest. 2020 Mar 2;130(3):1479-1490. doi: 10.1172/JCI130206. J Clin Invest. 2020. PMID: 31805011 Free PMC article. Clinical Trial.
A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis.
Frosk P, Arts HH, Philippe J, Gunn CS, Brown EL, Chodirker B, Simard L, Majewski J, Fahiminiya S, Russell C, Liu YP; FORGE Canada Consortium; Canadian Rare Diseases: Models & Mechanisms Network,; Hegele R, Katsanis N, Goerz C, Del Bigio MR, Davis EE. Frosk P, et al. Among authors: fahiminiya s. J Med Genet. 2017 Jul;54(7):490-501. doi: 10.1136/jmedgenet-2016-104296. Epub 2017 Mar 6. J Med Genet. 2017. PMID: 28264986 Free PMC article.
Novel 25 kb Deletion of MERTK Causes Retinitis Pigmentosa With Severe Progression.
Evans DR, Green JS, Johnson GJ, Schwartzentruber J, Majewski J, Beaulieu CL, Qin W, Marshall CR, Paton TA, Roslin NM, Paterson AD, Fahiminiya S, French J, Boycott KM, Woods MO; FORGE Canada Consortium. Evans DR, et al. Among authors: fahiminiya s. Invest Ophthalmol Vis Sci. 2017 Mar 1;58(3):1736-1742. doi: 10.1167/iovs.16-20864. Invest Ophthalmol Vis Sci. 2017. PMID: 28324114
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