S. Lévesque

发表

Recognition of the polycistronic nature of human genes is critical to understanding the genotype-phenotype relationship

M. Brunet, X. Roucou, D. Hunting, 2018, Genome research.

Clinical validity of phenotype-driven analysis software PhenoVar as a diagnostic aid for clinical geneticists in the interpretation of whole-exome sequencing data

P. Jacques, S. Lévesque, F. Thuriot, 2018, Genetics in Medicine.

PhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes

Hugo Larochelle, Pierre-Étienne Jacques, H. Larochelle, 2014, BMC Medical Genomics.

Online Module for Carrier Screening in Ashkenazi Jewish Individuals Compared with In-Person Genetics Education: A Randomized Controlled Trial

John J. Mitchell, S. Lévesque, G. Sillon, 2018, Journal of Genetic Counseling.

Nephrectomy in patients with Caroli's and ADPKD may be associated with increased morbidity.

S. Lévesque, S. Meterissian, S. Andonian, 2011, Canadian Urological Association journal = Journal de l'Association des urologues du Canada.

Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene

G. Bejerano, A. Wenger, D. Chitayat, 2016, Journal of Medical Genetics.

“Acquired” Brugada syndrome in a cardiac allograft

S. Lévesque, A. Dipchand, E. Stephenson, 2022, Pediatric transplantation.

The phenotypic spectrum of Schaaf-Yang syndrome – 18 new affected individuals from 14 families

J. Rosenfeld, A. Hamosh, Yaping Yang, 2016, Genetics in Medicine.

Molecular diagnosis of muscular diseases in outpatient clinics

P. Jacques, S. Lévesque, F. Thuriot, 2020, Neurology: Genetics.

Screening and instability of FMR1 alleles in a prospective sample of 24,449 mother–newborn pairs from the general population

S. Lévesque, F. Rousseau, K. Morgan, 2009, Clinical genetics.

Molecular Diagnosis of Pompe Disease in the Genomic Era: Correlation with Acid Alpha-Glucosidase Activity in Dried Blood Spots

S. Lévesque, F. Thuriot, Elaine Gravel, 2021, Journal of clinical medicine.

Spastic Paraparesis and Marked Improvement of Leukoencephalopathy in Aicardi–Goutières Syndrome

B. Brais, S. Lévesque, G. Bernard, 2014, Neuropediatrics.

A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population

K. Dewar, J. Hacia, S. Lévesque, 2012, BMC Medical Genetics.

A Canadian perspective

P. Jacques, S. Lévesque, F. Thuriot, 2020 .

Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing

P. Jacques, S. Lévesque, Elaine Gravel, 2016, Orphanet Journal of Rare Diseases.

Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits.

R. Holt, W. Sossin, F. Alkuraya, 2020, Human molecular genetics.

Novel founder mutation in French‐Canadian families with Naxos disease

S. Lévesque, B. Maranda, A. Pratte, 2017, Clinical genetics.

Molecular confirmation of nine cases of Cornelia de Lange syndrome diagnosed prenatally

S. Gopalani, D. Chitayat, S. Lévesque, 2014, Prenatal diagnosis.

Gain‐of‐Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment

J. Rosenfeld, E. Roeder, F. Xia, 2016, Human mutation.

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.

S. Lévesque, F. Rousseau, K. Morgan, 2002, Human molecular genetics.

Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series

S. Lévesque, N. Braverman, G. Bernard, 2022, neurogenetics.

Clinical validity of phenotype-driven analysis software PhenoVar as a diagnostic aid for clinical geneticists in the interpretation of whole-exome sequencing data

P. Jacques, S. Lévesque, F. Thuriot, 2018, Genetics in Medicine.

Implication of an AGT Haplotype in a Multigene Association Study With Pregnancy Hypertension

S. Lévesque, J. Moutquin, F. Rousseau, 2004, Hypertension.

Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort

S. Lévesque, B. Maranda, P. Waters, 2018, Journal of inherited metabolic disease.

Neonatal Gardner Fibroma: A Sentinel Presentation of Severe Familial Adenomatous Polyposis

W. Foulkes, S. Lévesque, P. Puligandla, 2010, Pediatrics.

Combined malonic and methylmalonic aciduria due to ACSF3 mutations: benign clinical course in an unselected cohort

S. Lévesque, B. Maranda, P. Waters, 2018, Journal of Inherited Metabolic Disease.

Short-term outcome of propionic aciduria treated at presentation with N-carbamylglutamate: a retrospective review of four patients.

S. Lévesque, N. Braverman, M. Lambert, 2012, JIMD reports.

Methylmalonyl-coA epimerase deficiency: A new case, with an acute metabolic presentation and an intronic splicing mutation in the MCEE gene

S. Lévesque, F. Thuriot, P. Waters, 2016, Molecular genetics and metabolism reports.

HSD10 mitochondrial disease: p.Leu122Val variant, mild clinical phenotype, and founder effect in French‐Canadian patients from Quebec

S. Lévesque, B. Maranda, P. Waters, 2019, Molecular genetics & genomic medicine.

Wide Spectrum of DUOX2 Deficiency: From Life-Threatening Compressive Goiter in Infancy to Lifelong Euthyroidism.

S. Lévesque, G. Szinnai, K. Heinimann, 2019, Thyroid : official journal of the American Thyroid Association.