Maryse Thibeault

Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm

Philippe Chétaille, Silja Burkhard, Jean-Marc Côté et al. · Nature Genetics · 2014 · 154 citations · Full text

Cardiomyopathy, Heart Failure, Gut Rhythm +5

Rare Copy Number Variants Contribute to Congenital Left-Sided Heart Disease

Marc‐Phillip Hitz, Louis-Philippe Lemieux-Perreault, Christian R. Marshall et al. · PLoS Genetics · 2012 · 125 citations · Full text

Heart Failure, Cardiovascular Disease, Genetic Disorder +15

Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease

M. Capredon, Florian Wünnemann, Philippe Chétaille et al. · PLoS Genetics · 2016 · 68 citations · Full text

Heart Failure, Genetics, Pathology +17

Loss of ADAMTS19 causes progressive non-syndromic heart valve disease

Florian Wünnemann, Asaf Ta‐Shma, Séverine Leclerc et al. · Nature Genetics · 2019 · 62 citations · Full text

Heart Failure, Cardiovascular Disease, Pathology +5

Aortic Dilatation Associated With a De Novo Mutation in the SOX18 Gene: Expanding the Clinical Spectrum of Hypotrichosis-Lymphedema-Telangiectasia Syndrome

Florian Wünnemann, Victor Kokta, Séverine Leclerc et al. · Canadian Journal of Cardiology · 2015 · 27 citations

De Novo Mutation, Aortic Dilatation Associated, Genetic Disorder +5