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Journal Article
by Hamdan, Fadi F and Myers, Candace T and Cossette, Patrick and Lemay, Philippe and Spiegelman, Dan and Laporte, Alexandre Dionne and Nassif, Christina and Diallo, Ousmane and Monlong, Jean and Cadieux-Dion, Maxime and Dobrzeniecka, Sylvia and Meloche, Caroline and Retterer, Kyle and Cho, Megan T and Rosenfeld, Jill A and Bi, Weimin and Massicotte, Christine and Miguet, Marguerite and Brunga, Ledia and Regan, Brigid M and Mo, Kelly and Tam, Cory and Schneider, Amy and Hollingsworth, Georgie and FitzPatrick, David R and Donaldson, Alan and Canham, Natalie and Blair, Edward and Kerr, Bronwyn and Fry, Andrew E and Thomas, Rhys H and Shelagh, Joss and Hurst, Jane A and Brittain, Helen and Blyth, Moira and Lebel, Robert Roger and Gerkes, Erica H and Davis-Keppen, Laura and Stein, Quinn and Chung, Wendy K and Dorison, Sara J and Benke, Paul J and Fassi, Emily and Corsten-Janssen, Nicole and Kamsteeg, Erik-Jan and Mau-Them, Frederic T and Bruel, Ange-Line and Verloes, Alain and Õunap, Katrin and Wojcik, Monica H and Albert, Dara V.F and Venkateswaran, Sunita and Ware, Tyson and Jones, Dean and Liu, Yu-Chi and Mohammad, Shekeeb S and Bizargity, Peyman and Bacino, Carlos A and Leuzzi, Vincenzo and Martinelli, Simone and Dallapiccola, Bruno and Tartaglia, Marco and Blumkin, Lubov and Wierenga, Klaas J and Purcarin, Gabriela and O’Byrne, James J and Stockler, Sylvia and Lehman, Anna and Keren, Boris and Nougues, Marie-Christine and Mignot, Cyril and Auvin, Stéphane and Nava, Caroline and Hiatt, Susan M and Bebin, Martina and Shao, Yunru and Scaglia, Fernando and Lalani, Seema R and Frye, Richard E and Jarjour, Imad T and Jacques, Stéphanie and Boucher, Renee-Myriam and Riou, Emilie and Srour, Myriam and Carmant, Lionel and Lortie, Anne and Major, Philippe and Diadori, Paola and Dubeau, François and D’Anjou, Guy and Bourque, Guillaume and Berkovic, Samuel F and Sadleir, Lynette G and Campeau, Philippe M and Kibar, Zoha and Lafrenière, Ronald G and Girard, Simon L and Mercimek-Mahmutoglu, Saadet and Boelman, Cyrus and Rouleau, Guy A and ... and Deciphering Dev Disorders Study and Deciphering Developmental Disorders Study
The American Journal of Human Genetics, ISSN 0002-9297, 11/2017, Volume 101, Issue 5, pp. 664 - 685
Journal Article
Journal Article
Nucleic Acids Research, ISSN 0305-1048, 08/2018, Volume 46, Issue 14, pp. 7236 - 7249
Abstract Copy number variants (CNVs) are known to affect a large portion of the human genome and have been implicated in many diseases. Although whole-genome... 
GENOMIC STRUCTURAL VARIATION | DUPLICATIONS | REPEAT | RARE CHROMOSOMAL DELETIONS | DNA | BIOCHEMISTRY & MOLECULAR BIOLOGY | LONG-READ ALIGNMENT | DISEASE | MECHANISMS | ALGORITHMS | SEQUENCING DATA | Genomics
Journal Article
Journal Article
JAMA Neurology, ISSN 2168-6149, 04/2014, Volume 71, Issue 4, p. 470
  The autosomal dominant spinocerebellar ataxias (SCAs) are a complex group of neurodegenerative disorders with significant genetic heterogeneity. Despite the... 
Neurology | Genotype & phenotype | Genetic disorders | Ataxia | Mapping | Mutation
Journal Article
Arteriosclerosis, Thrombosis, and Vascular Biology, ISSN 1079-5642, 05/2017, Volume 37, Issue 8, pp. 1513 - 1523
OBJECTIVE—Pulmonary arterial hypertension (PAH) is a vascular disease not restricted to the lungs. Many signaling pathways described in PAH are also of... 
coronary artery disease | comorbidity | vascular remodeling | pulmonary hypertension | coronary remodeling | SELECTIVE-INHIBITION | CELLS | ACTIVATION | DNA-DAMAGE | JQ1 | PREVALENCE | BROMODOMAIN | HEART-DISEASE | ENDOTHELIUM | PERIPHERAL VASCULAR DISEASE | DYSFUNCTION | HEMATOLOGY | RNA, Small Interfering - genetics | Cell Proliferation | Muscle, Smooth, Vascular - metabolism | Epigenesis, Genetic | Humans | Myocytes, Smooth Muscle - pathology | Male | MicroRNAs - metabolism | Case-Control Studies | Coronary Vessels - metabolism | RNA Interference | Coronary Artery Disease - pathology | Inflammation Mediators - metabolism | Nuclear Proteins - genetics | Interleukin-6 - metabolism | Myocytes, Smooth Muscle - metabolism | Disease Models, Animal | Coronary Vessels - pathology | Genetic Predisposition to Disease | Interleukin-6 - genetics | Coronary Artery Disease - metabolism | Cells, Cultured | Hypertension, Pulmonary - genetics | Nuclear Proteins - metabolism | Poly (ADP-Ribose) Polymerase-1 - metabolism | Hypertension, Pulmonary - metabolism | Transcription Factors - genetics | Rats, Sprague-Dawley | Transcription Factors - metabolism | Muscle, Smooth, Vascular - pathology | Phenotype | Animals | Vascular Remodeling - genetics | Coronary Artery Disease - genetics | MicroRNAs - genetics | DNA Damage | Hypertension, Pulmonary - pathology | Poly (ADP-Ribose) Polymerase-1 - genetics | Apoptosis | RNA, Small Interfering - metabolism
Journal Article
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 2011, Volume 20, Issue 12, pp. 2297 - 2307
Several genes predisposing to autism spectrum disorders (ASDs) with or without epilepsy have been identified, many of which are implicated in synaptic... 
SYNAPSIN DOMAIN-E | TRANSMISSION | PRESYNAPTIC TERMINALS | MENTAL-RETARDATION | GENE | NEUROTRANSMITTER RELEASE |