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Sébastien Chénier

Observed names: Chenier, Sebastien, Chenier, Sébastien, Chénier, Sébastien, S. Chenier, S. Chénier, Sebastien Chenier, Sébastien CHÉNIER, Sébastien Chenier
Observed institutions: Université de Sherbrooke, Hospital for Sick Children, Centre Hospitalier Universitaire de Sherbrooke, Centre Hospitalier Universitaire Sainte-Justine, Hôpital Notre-Dame, CHU Sainte-Justine Research Center, Université de Montréal
OpenAlex ID: A5042654595
PhenoTips: Patient Phenotyping Software for Clinical and Research Use
2013 · Marta Girdea, Sergiu Dumitriu, et al. · Human Mutation · 253
Phosphorylation‐independent desensitization of GABAB receptor by GRK4
2003 · Julie Perroy, Lynda Adam, et al. · The EMBO Journal · 129
CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems
2014 · Sébastien Chénier, Grace Yoon, et al. · Journal of Neurodevelopmental Disorders · 99
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Genotype–phenotype analysis of the branchio‐oculo‐facial syndrome
2010 · Jeff M. Milunsky, Tom M. Maher, et al. · American Journal of Medical Genetics Part A · 69
Interstitial deletion of 11q‐implicating the KIRREL3 gene in the neurocognitive delay associated with Jacobsen syndrome
2012 · Andrea Guerin, Dimitri J Stavropoulos, et al. · American Journal of Medical Genetics Part A · 60
Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing
2016 · Sébastien Lévesque, Christiane Auray-Blais, et al. · Orphanet Journal of Rare Diseases · 57
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Subcellular distribution of GABAB receptor homo- and hetero-dimers
2005 · Josée-France VILLEMURE, Lynda ADAM, et al. · Biochemical Journal · 54
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Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: further delineation of the phenotype
2018 · Elyssa Cannaerts, Marlies Kempers, et al. · Journal of Medical Genetics · 40
Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation
2011 · Tracy Tucker, Alexandre Montpetit, et al. · BMC Medical Genomics · 37
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Successful in vitro maturation of oocytes in a woman with gonadotropin-resistant ovary syndrome associated with a novel combination of FSH receptor gene variants: a case report
2019 · C. Flageole, C. Toufaily, et al. · Journal of Assisted Reproduction and Genetics · 24
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Experience of Parents of Children with Genetically Determined Leukoencephalopathies Regarding the Adapted Health Care Services During the COVID-19 Pandemic
2022 · Pouneh Amir Yazdani, Marie-Lou St-Jean, et al. · Journal of Child Neurology · 21
Clinical validity of phenotype-driven analysis software PhenoVar as a diagnostic aid for clinical geneticists in the interpretation of whole-exome sequencing data
2018 · Fanny Thuriot, Caroline Buote, et al. · Genetics in Medicine · 20
Molecular diagnosis of muscular diseases in outpatient clinics: A Canadian perspective
2020 · Fanny Thuriot, Elaine Gravel, et al. · Neurology Genetics · 18
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Capturing the clinical utility of genomic testing: medical recommendations following pediatric microarray
2014 · Robin Z Hayeems, Ny Hoang, et al. · European Journal of Human Genetics · 18
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Osteopathia striata with cranial sclerosis and developmental delay in a male with a mosaic deletion in chromosome region Xq11.2
2012 · Sébastien Chénier, Abdul Noor, et al. · American Journal of Medical Genetics Part A · 16
Biallelic Loss-of-Function Variants in AIMP1 Cause a Rare Neurodegenerative Disease
2018 · Andrea Accogli, Kether Guerrero, et al. · Journal of Child Neurology · 14
Stress in Parents of Children With Genetically Determined Leukoencephalopathies: A Pilot Study
2020 · E. Dermer, A. Spahr, et al. · Journal of Child Neurology · 13
The Experience of Parents of Children With Genetically Determined Leukoencephalopathies With the Health Care System: A Qualitative Study
2023 · Pouneh Amir Yazdani, Marie-Lou St-Jean, et al. · Journal of Child Neurology · 10
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Copy number variation in genetic epilepsy with febrile seizures plus
2020 · Olivier Fortin, Christian Vincelette, et al. · European Journal of Paediatric Neurology · 8
PMS2 c.2117del ( p.Lys706Serfs*19 ) is the Most Frequent Cancer‐Associated Founder Pathogenic Variant in the French‐Canadian Population of Quebec, Canada
2025 · Anne‐Laure Chong, Alejandro Mejia‐Garcia, et al. · Clinical Genetics · 4
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Does personal genome testing drive service utilization in an adult preventive medicine clinic?
2017 · Ny Hoang, Robin Hayeems, et al. · Journal of Community Genetics · 3
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Adult Patient with Primary Intracranial Sarcoma DICER1 Mutated: Therapy Leading to Prolonged Survival and Local Control
2025 · Christina Toma, David Fortin, et al. · Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques
76. Goals, methods and challenges in a clinical validation of a NGS-based platform for the detection of constitutional CNVs
2022 · Fléchère Fortin, Natascia Anastasio, et al. · Cancer Genetics
12. Genetic evaluation of CLL using SNP-array CGH: Comparison with retrospective FISH data in our institution.
2020 · Fléchère Fortin, Sébastien Chénier · Cancer Genetics
44. Constitutional chromotripsis case: 4 deletions and 9 breaks involving 2 chromosomes in a patient referred for short stature and global developmental delay
2018 · Flechere Fortin, Sebastien Chenier · Cancer Genetics
Works count: 31
Citation count: 967
H-index: 15
I10-index: 18
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