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Sébastien Chénier

Centre Hospitalier Universitaire de Sherbrooke

13

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451

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Molecular diagnosis of muscular diseases in outpatient clinics: A Canadian perspective

2020 Neurology Genetics
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12. Genetic evaluation of CLL using SNP-array CGH: Comparison with retrospective FISH data in our institution.

2020 Cancer Genetics and Cytogenetics
- Flechere Fortin
- Sébastien Chénier
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Biallelic Loss-of-Function Variants in AIMP1 Cause a Rare Neurodegenerative Disease:

2019 Journal of Child Neurology
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Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: further delineation of the phenotype

2018 Journal of Medical Genetics
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Does personal genome testing drive service utilization in an adult preventive medicine clinic

2017 Journal of Community Genetics
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Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing.

2016 Orphanet Journal of Rare Diseases
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Capturing the clinical utility of genomic testing: medical recommendations following pediatric microarray

2015 European Journal of Human Genetics
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CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems

2014 Journal of Neurodevelopmental Disorders
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PhenoTips: Patient Phenotyping Software for Clinical and Research Use

2013 Human Mutation
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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 American Journal of Medical Genetics Part A
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Citations (12)