Sébastien Lévesque

Financement

• Subvention. Non-Invasive Prenatal Genomic Test for Severe Monogenic Diseases in the Fetus. Génome Québec (QC, Canada). 444 190 $. (2025-2027). Voir plus
• Subvention. Optimizing genomic data interpretation and clinical reporting in the Quebec healthcare network through supervised automation. Ministère de la Santé et des Services sociaux (QC, Canada). 761 750 $. (2024-2026).

Publications

Articles

• Chong AL, Mejia-Garcia A, Behl S, El Haffaf Z, Chénier S, Maranda B, Désilets V, Lévesque S, Castonguay L, Mes-Masson AM, Giroux S, Rousseau F, Foulkes WD. (2025). PMS2 c.2117del (p.Lys706Serfs*19) is the Most Frequent Cancer-Associated Founder Pathogenic Variant in the French-Canadian Population of Quebec, Canada. Clinical genetics. DOI
• Power A, Lynch Á, Zahavich L, Lévesque SA, Stephenson EA, Jean-St-Michel E, Dipchand AI, Jeewa A. (2022). "Acquired" Brugada syndrome in a cardiac allograft. Pediatric transplantation. DOI
• Cheung A, Argyriou C, Yergeau C, D'Souza Y, Riou É, Lévesque S, Raymond G, Daba M, Rtskhiladze I, Tkemaladze T, Adang L, La Piana R, Bernard G, Braverman N. (2022). Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series. Neurogenetics. DOI
• Fanny Thuriot, Elaine Gravel, Katherine Hodson, Jorge Ganopolsky, Bojana Rakic, Paula J. Waters, Serge Gravel, Sébastien Lévesque. (2021). Molecular Diagnosis of Pompe Disease in the Genomic Era: Correlation with Acid Alpha-Glucosidase Activity in Dried Blood Spots. Journal of Clinical Medicine. DOI
• Zha C, Farah CA, Holt RJ, Ceroni F, Al-Abdi L, Thuriot F, Khan AO, Helaby R, Lévesque S, Alkuraya FS, Kraus A, Ragge NK, Sossin WS. (2020). Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits. Human molecular genetics. DOI
• Venegas C, Svenningsen S, Kjarsgaard M, Tarnopolsky M, Anderson K, Levesque S, Raby BA, Parraga G, Cox G, Nair P. (2020). Lessons of the month: A breathless severe asthmatic in the genomic era: Occam's razor or Hickam's dictum?. Clinical medicine (London, England). DOI
• Leal Ferman LA, Lévesque M, Lévesque S, Bocti C. (2020). FA2H Mutations in a Young Adult Presenting as an Isolated Cognitive Impairment Syndrome. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques. DOI
• Thuriot F, Gravel E, Buote C, Doyon M, Lapointe E, Marcoux L, Larue S, Nadeau A, Chénier S, Waters PJ, Jacques PÉ, Gravel S, Lévesque S. (2020). Molecular diagnosis of muscular diseases in outpatient clinics: A Canadian perspective. Neurology. Genetics. DOI
• Waters PJ, Lace B, Buhas D, Gravel S, Cyr D, Boucher RM, Bernard G, Lévesque S, Maranda B. (2019). HSD10 mitochondrial disease: p.Leu122Val variant, mild clinical phenotype, and founder effect in French-Canadian patients from Quebec. Molecular genetics & genomic medicine. DOI
• Dufort G, Larrivée-Vanier S, Eugène D, De Deken X, Seebauer B, Heinimann K, Lévesque S, Gravel S, Szinnai G, Van Vliet G, Deladoëy J. (2019). Wide Spectrum of <i>DUOX2</i> Deficiency: From Life-Threatening Compressive Goiter in Infancy to Lifelong Euthyroidism. Thyroid : official journal of the American Thyroid Association. DOI
• Levtova A, Waters PJ, Buhas D, Lévesque S, Auray-Blais C, Clarke JTR, Laframboise R, Maranda B, Mitchell GA, Brunel-Guitton C, Braverman NE. (2019). Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort. Journal of inherited metabolic disease. DOI
• Brunet MA, Levesque SA, Hunting DJ, Cohen AA, Roucou X. (2018). Recognition of the polycistronic nature of human genes is critical to understanding the genotype-phenotype relationship. Genome research. DOI
• Thuriot F, Buote C, Gravel E, Chénier S, Désilets V, Maranda B, Waters PJ, Jacques PE, Lévesque S. (2018). Clinical validity of phenotype-driven analysis software PhenoVar as a diagnostic aid for clinical geneticists in the interpretation of whole-exome sequencing data. Genetics in medicine : official journal of the American College of Medical Genetics. DOI
• Fan CW, Castonguay L, Rummell S, Lévesque S, Mitchell JJ, Sillon G. (2017). Online Module for Carrier Screening in Ashkenazi Jewish Individuals Compared with In-Person Genetics Education: A Randomized Controlled Trial. Journal of genetic counseling. DOI
• Marino TC, Maranda B, Leblanc J, Pratte A, Barabas M, Dupéré A, Lévesque S. (2017). Novel founder mutation in French-Canadian families with Naxos disease. Clinical genetics. DOI
• Balasubramanian M, Lord H, Levesque S, Guturu H, Thuriot F, Sillon G, Wenger AM, Sureka DL, Lester T, Johnson DS, Bowen J, Calhoun AR, Viskochil DH, Chitayat D. (2016). Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the <i>ERF</i> gene. Journal of medical genetics. DOI
• Waters PJ, Thuriot F, Clarke JT, Gravel S, Watkins D, Rosenblatt DS, Lévesque S. (2016). Methylmalonyl-coA epimerase deficiency: A new case, with an acute metabolic presentation and an intronic splicing mutation in the <i>MCEE</i> gene. Molecular genetics and metabolism reports. DOI
• Srour M, Caron V, Pearson T, Nielsen SB, Lévesque S, Delrue MA, Becker TA, Hamdan FF, Kibar Z, Sattler SG, Schneider MC, Bitoun P, Chassaing N, Michaud JL. (2016). Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment. Human mutation. DOI
• Fountain MD, Aten E, Cho MT, Juusola J, Walkiewicz MA, Ray JW, Xia F, Yang Y, Graham BH, Bacino CA, Potocki L, van Haeringen A, Ruivenkamp CA, Schaaf CP. (2016). The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families. Genetics in medicine : official journal of the American College of Medical Genetics. DOI
• Lévesque S, Auray-Blais C, Gravel E, Boutin M, Dempsey-Nunez L, Jacques PE, Chenier S, Larue S, Rioux MF, Al-Hertani W, Nadeau A, Mathieu J, Kishnani P. (2016). Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing. Orphanet journal of rare diseases. DOI
• La Piana R, Tran LT, Guerrero K, Brais B, Levesque S, Sébire G, Riou E, Bernard G. (2014). Spastic paraparesis and marked improvement of leukoencephalopathy in Aicardi-Goutières syndrome. Neuropediatrics. DOI
• Trakadis YJ, Buote C, Therriault JF, Jacques PÉ, Larochelle H, Lévesque S. (2014). PhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes. BMC medical genomics. DOI
• Dempsey MA, Knight Johnson AE, Swope BS, Moldenhauer JS, Sroka H, Chong K, Chitayat D, Briere L, Lyon H, Palmer N, Gopalani S, Siebert JR, Das S. (2013). Molecular confirmation of nine cases of Cornelia de Lange syndrome diagnosed prenatally. Prenatal diagnosis. DOI
• Levesque S, Morin C, Guay SP, Villeneuve J, Marquis P, Yik WY, Jiralerspong S, Bouchard L, Steinberg S, Hacia JG, Dewar K, Braverman NE. (2012). A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population. BMC medical genetics. DOI
• Trakadis YJ, D'Agostino DM, Braverman NE, Lévesque S, Morinville V. (2012). Case 1: Recurrent acute liver dysfunction in a 19-month-old boy. Paediatrics & child health. DOI
• Lévesque S, Lambert M, Karalis A, Melancon S, Russell L, Braverman N. (2011). Short-term outcome of propionic aciduria treated at presentation with N-carbamylglutamate: a retrospective review of four patients. JIMD reports. DOI
• Aguilar M, Meterissian S, Levesque S, Andonian S. (2011). Nephrectomy in patients with Caroli's and ADPKD may be associated with increased morbidity. Canadian Urological Association journal = Journal de l'Association des urologues du Canada. DOI
• Levesque S, Ahmed N, Nguyen VH, Nahal A, Blumenkrantz M, Puligandla P, Chong G, Foulkes WD. (2010). Neonatal Gardner fibroma: a sentinel presentation of severe familial adenomatous polyposis. Pediatrics. DOI
• Lévesque S, Dombrowski C, Morel ML, Rehel R, Côté JS, Bussières J, Morgan K, Rousseau F. (2009). Screening and instability of FMR1 alleles in a prospective sample of 24,449 mother-newborn pairs from the general population. Clinical genetics. DOI
• Lévesque S, Moutquin JM, Lindsay C, Roy MC, Rousseau F. (2003). Implication of an AGT haplotype in a multigene association study with pregnancy hypertension. Hypertension (Dallas, Tex. : 1979). DOI
• Dombrowski C, Lévesque S, Morel ML, Rouillard P, Morgan K, Rousseau F. (2002). Premutation and intermediate-size FMR1 alleles in 10572 males from the general population: loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles. Human molecular genetics. DOI

Autres contributions

Cours enseignés à l'UdeS

• GNT530 - Génétique clinique et moléculaire. (2023-2025). (3CR).