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Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome.
Guernsey DL, Matsuoka M, Jiang H, Evans S, Macgillivray C, Nightingale M, Perry S, Ferguson M, LeBlanc M, Paquette J, Patry L, Rideout AL, Thomas A, Orr A, McMaster CR, Michaud JL, Deal C, Langlois S, Superneau DW, Parkash S, Ludman M, Skidmore DL, Samuels ME. Guernsey DL, et al. Among authors: langlois s. Nat Genet. 2011 Feb 27;43(4):360-4. doi: 10.1038/ng.777. Nat Genet. 2011. PMID: 21358631
Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes.
Tucker T, Zahir FR, Griffith M, Delaney A, Chai D, Tsang E, Lemyre E, Dobrzeniecka S, Marra M, Eydoux P, Langlois S, Hamdan FF, Michaud JL, Friedman JM. Tucker T, et al. Among authors: langlois s. Eur J Hum Genet. 2014 Jun;22(6):792-800. doi: 10.1038/ejhg.2013.248. Epub 2013 Nov 20. Eur J Hum Genet. 2014. PMID: 24253858 Free PMC article.
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.
Enns GM, Shashi V, Bainbridge M, Gambello MJ, Zahir FR, Bast T, Crimian R, Schoch K, Platt J, Cox R, Bernstein JA, Scavina M, Walter RS, Bibb A, Jones M, Hegde M, Graham BH, Need AC, Oviedo A, Schaaf CP, Boyle S, Butte AJ, Chen R, Chen R, Clark MJ, Haraksingh R; FORGE Canada Consortium; Cowan TM, He P, Langlois S, Zoghbi HY, Snyder M, Gibbs RA, Freeze HH, Goldstein DB. Enns GM, et al. Among authors: langlois s. Genet Med. 2014 Oct;16(10):751-8. doi: 10.1038/gim.2014.22. Epub 2014 Mar 20. Genet Med. 2014. PMID: 24651605 Free PMC article.
Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization.
Friedman J, Adam S, Arbour L, Armstrong L, Baross A, Birch P, Boerkoel C, Chan S, Chai D, Delaney AD, Flibotte S, Gibson WT, Langlois S, Lemyre E, Li HI, MacLeod P, Mathers J, Michaud JL, McGillivray BC, Patel MS, Qian H, Rouleau GA, Van Allen MI, Yong SL, Zahir FR, Eydoux P, Marra MA. Friedman J, et al. Among authors: langlois s. BMC Genomics. 2009 Nov 16;10:526. doi: 10.1186/1471-2164-10-526. BMC Genomics. 2009. PMID: 19917086 Free PMC article.
Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation.
Tucker T, Montpetit A, Chai D, Chan S, Chénier S, Coe BP, Delaney A, Eydoux P, Lam WL, Langlois S, Lemyre E, Marra M, Qian H, Rouleau GA, Vincent D, Michaud JL, Friedman JM. Tucker T, et al. Among authors: langlois s. BMC Med Genomics. 2011 Mar 25;4:25. doi: 10.1186/1755-8794-4-25. BMC Med Genomics. 2011. PMID: 21439053 Free PMC article.
Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical Geneticists.
Lazier J, Hartley T, Brock JA, Caluseriu O, Chitayat D, Laberge AM, Langlois S, Lauzon J, Nelson TN, Parboosingh J, Stavropoulos DJ, Boycott K, Armour CM; Canadian College of Medical Geneticists. Lazier J, et al. Among authors: langlois s. J Med Genet. 2022 Oct;59(10):931-937. doi: 10.1136/jmedgenet-2021-107897. Epub 2021 Sep 20. J Med Genet. 2022. PMID: 34544840 Free PMC article.
Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy.
Lehman AM, Eydoux P, Doherty D, Glass IA, Chitayat D, Chung BY, Langlois S, Yong SL, Lowry RB, Hildebrandt F, Trnka P. Lehman AM, et al. Among authors: langlois s. Am J Med Genet A. 2010 Jun;152A(6):1411-9. doi: 10.1002/ajmg.a.33416. Am J Med Genet A. 2010. PMID: 20503315 Free PMC article.
363 results