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Page 1
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
Srour M, Hamdan FF, McKnight D, Davis E, Mandel H, Schwartzentruber J, Martin B, Patry L, Nassif C, Dionne-Laporte A, Ospina LH, Lemyre E, Massicotte C, Laframboise R, Maranda B, Labuda D, Décarie JC, Rypens F, Goldsher D, Fallet-Bianco C, Soucy JF, Laberge AM, Maftei C; Care4Rare Canada Consortium; Boycott K, Brais B, Boucher RM, Rouleau GA, Katsanis N, Majewski J, Elpeleg O, Kukolich MK, Shalev S, Michaud JL. Srour M, et al. Among authors: laberge am. Am J Hum Genet. 2015 Nov 5;97(5):744-53. doi: 10.1016/j.ajhg.2015.09.009. Epub 2015 Oct 17. Am J Hum Genet. 2015. PMID: 26477546 Free PMC article.
The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists.
Boycott K, Hartley T, Adam S, Bernier F, Chong K, Fernandez BA, Friedman JM, Geraghty MT, Hume S, Knoppers BM, Laberge AM, Majewski J, Mendoza-Londono R, Meyn MS, Michaud JL, Nelson TN, Richer J, Sadikovic B, Skidmore DL, Stockley T, Taylor S, van Karnebeek C, Zawati MH, Lauzon J, Armour CM; Canadian College of Medical Geneticists. Boycott K, et al. Among authors: laberge am. J Med Genet. 2015 Jul;52(7):431-7. doi: 10.1136/jmedgenet-2015-103144. Epub 2015 May 7. J Med Genet. 2015. PMID: 25951830 Free PMC article.
BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells.
Lessel D, Gehbauer C, Bramswig NC, Schluth-Bolard C, Venkataramanappa S, van Gassen KLI, Hempel M, Haack TB, Baresic A, Genetti CA, Funari MFA, Lessel I, Kuhlmann L, Simon R, Liu P, Denecke J, Kuechler A, de Kruijff I, Shoukier M, Lek M, Mullen T, Lüdecke HJ, Lerario AM, Kobbe R, Krieger T, Demeer B, Lebrun M, Keren B, Nava C, Buratti J, Afenjar A, Shinawi M, Guillen Sacoto MJ, Gauthier J, Hamdan FF, Laberge AM, Campeau PM, Louie RJ, Cathey SS, Prinz I, Jorge AAL, Terhal PA, Lenhard B, Wieczorek D, Strom TM, Agrawal PB, Britsch S, Tolosa E, Kubisch C. Lessel D, et al. Among authors: laberge am. Brain. 2018 Aug 1;141(8):2299-2311. doi: 10.1093/brain/awy173. Brain. 2018. PMID: 29985992 Free PMC article.
Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum.
Alkhunaizi E, Shuster S, Shannon P, Siu VM, Darilek S, Mohila CA, Boissel S, Ellezam B, Fallet-Bianco C, Laberge AM, Zandberg J, Injeyan M, Hazrati LN, Hamdan F, Chitayat D. Alkhunaizi E, et al. Among authors: laberge am. Am J Med Genet A. 2019 Mar;179(3):386-396. doi: 10.1002/ajmg.a.61025. Epub 2019 Jan 16. Am J Med Genet A. 2019. PMID: 30652412
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: laberge am. 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.
Experience of Parents of Children with Genetically Determined Leukoencephalopathies Regarding the Adapted Health Care Services During the COVID-19 Pandemic.
Amir Yazdani P, St-Jean ML, Matovic S, Spahr A, Tran LT, Boucher RM, Poulin C, Osterman B, Srour M, Rosenblatt B, Chenier S, Soucy JF, Laberge AM, Braverman N, D'Agostino MD, Nguyen CE, Morsa M, Bernard G. Amir Yazdani P, et al. Among authors: laberge am. J Child Neurol. 2022 Mar;37(4):237-245. doi: 10.1177/08830738211065317. Epub 2022 Jan 5. J Child Neurol. 2022. PMID: 34986037 Free PMC article.
The Experience of Parents of Children With Genetically Determined Leukoencephalopathies With the Health Care System: A Qualitative Study.
Yazdani PA, St-Jean ML, Matovic S, Spahr A, Tran LT, Boucher RM, Poulin C, Osterman B, Srour M, Rosenblatt B, Chénier S, Soucy JF, Laberge AM, D'Agostino MD, Nguyen CE, Morsa M, Bernard G. Yazdani PA, et al. Among authors: laberge am. J Child Neurol. 2023 Apr;38(5):329-335. doi: 10.1177/08830738231176672. Epub 2023 May 24. J Child Neurol. 2023. PMID: 37225698 Free PMC article.
76 results