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Human Molecular Genetics|May 6, 2025
Rare DCM associated variants in pre-miR-208a disrupt miRNA maturation and functionYolan J Reckman, Jan Haas, Ingeborg van der Made, et al.Arteriosclerosis, Thrombosis, and Vascular Biology|April 6, 2013
Loss of function of parathyroid hormone receptor 1 induces Notch-dependent aortic defects during zebrafish vascular developmentCaroline Gray, David Bratt, Julie Lees, et al.British Journal of Pharmacology|July 1, 2025
Stabilisation of PRCP by deubiquitinase-targeting chimera (DUBTAC) to replenish autophagy for ameliorating pathological cardiac hypertrophyFangchao Zhou, Jun Xia, Yingjuan Liu, et al.Circulation. Genomic and Precision Medicine|July 30, 2021
Clinical Genetic Risk Variants Inform a Functional Protein Interaction Network for Tetralogy of FallotMiriam S Reuter, Rajiv R Chaturvedi, Rebekah K Jobling, et al.Circulation. Genomic and Precision Medicine|April 27, 2026
Diagnostic Yield of Exome Sequencing in Patients With Congenital Heart Disease From Southern AfricaTimothy F Spracklen, Thomas Aldersley, John Lawrenson, et al.American Journal of Human Genetics|October 16, 2012
Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralizationStephen R F Twigg, Deborah Lloyd, Dagan Jenkins, et al.International Journal of Cardiology|June 8, 2013
Defining cardiac adaptations and safety of endurance training in patients with m.3243A>G-related mitochondrial diseaseMatthew G D Bates, Jane H Newman, Djordje G Jakovljevic, et al.Nature Communications|August 19, 2015
Association analysis identifies new risk loci for congenital heart disease in Chinese populationsYuan Lin, Xuejiang Guo, Bijun Zhao, et al.Human Molecular Genetics|December 27, 2011
Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controlsRachel Soemedi, Ana Topf, Ian J Wilson, et al.The Journal of Clinical Investigation|November 17, 2020
Congenital heart disease risk loci identified by genome-wide association study in European patientsHarald Lahm, Meiwen Jia, Martina Dreßen, et al.Pageof 7