Associated Papers
Chronic atrial and intestinal dysrythmia syndrome: A late-onset intestinal pseudo-obstruction and cardiac dysfunction due to an SGO1 mutation.
Adouane L et al.
Jpgn Reports, 2025
Rare diseases load through the study of a regional population.
Michel É et al.
Plos Genetics, 2025
Exploring the uncharted role of cell senescence in rare diseases.
Selvaggio P et al.
Orphanet Journal of Rare Diseases, 2025
Rare variants and founder effect in the Beauce region of Quebec.
Gagnon M et al.
Communications Biology, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Engineering precision zebrafish alleles of human disease.
Thomas HR et al.
Biorxiv : the Preprint Server for Biology, 2025
Chronic atrial and intestinal dysrhythmia: A rare genetic disorder of intestinal pseudo-obstruction.
Ahuja K et al.
Jpgn Reports, 2025
Pathogenesis and Clinical Characteristics of Hereditary Arrhythmia Diseases.
Guo S et al.
Genes, 2024
The zebrafish cohesin protein Sgo1 is required for cardiac function and eye development.
Kamel SM et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2022
Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA).
Schuermans N et al.
Orphanet Journal of Rare Diseases, 2022
A Novel Cohesinopathy Causing Chronic Intestinal Pseudo Obstruction in 2 Siblings and Literature Review.
Venkatesh V et al.
Journal of Neurogastroenterology and Motility, 2021
Cohesin-protein Shugoshin-1 controls cardiac automaticity via HCN4 pacemaker channel.
Liu D et al.
Nature Communications, 2021
Clinically and biologically relevant subgroups of Wilms tumour defined by genomic and epigenomic analyses.
Brzezinski J et al.
British Journal of Cancer, 2021
The expanding phenotypes of cohesinopathies: one ring to rule them all!
Piché J et al.
Cell Cycle (georgetown, Tex.), 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Molecular Signature of CAID Syndrome: Noncanonical Roles of SGO1 in Regulation of TGF-β Signaling and Epigenomics.
Piché J et al.
Cellular and Molecular Gastroenterology and Hepatology, 2019
Characterization of Sgo1 expression in developing and adult mouse.
Song AT et al.
Gene Expression Patterns : Gep, 2017
Genetic Determinants of Hereditary Bradyarrhythmias: A Contemporary Review of a Diverse Group of Disorders.
Rezazadeh S et al.
The Canadian Journal of Cardiology, 2017
Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm.
Chetaille P et al.
Nature Genetics, 2014