Associated Papers
The clinical and genetic spectrum of pediatric hypertrophic cardiomyopathy manifesting before one year of age.
Fetisova S et al.
Pediatric Research, 2025
Establishment and Comprehensive Characterization of a Novel Preclinical Platform of Metastatic Retinoblastoma for Therapeutic Developments.
Zugbi S et al.
Investigative Ophthalmology & Visual Science, 2023
Towards a Better Understanding of Genotype-Phenotype Correlations and Therapeutic Targets for Cardiocutaneous Genes: The Importance of Functional Studies above Prediction.
Vermeer MCSC et al.
International Journal of Molecular Sciences, 2022
Arrhythmogenic influence of mutations in a myocyte-based computational model of the pulmonary vein sleeve.
Jæger KH et al.
Scientific Reports, 2022
Atrial Fibrillation: Focus on Myocardial Connexins and Gap Junctions.
Guo YH et al.
Biology, 2022
Case report: De novo pathogenic variant in WFS1 causes Wolfram-like syndrome debuting with congenital bilateral deafness.
Alías L et al.
Frontiers in Genetics, 2022
Atrial fibrillation-a complex polygenetic disease.
Andersen JH et al.
European Journal of Human Genetics : Ejhg, 2021
Connexin Genes Variants Associated with Non-Syndromic Hearing Impairment: A Systematic Review of the Global Burden.
Adadey SM et al.
Life (basel, Switzerland), 2020
Centromeric cohesion failure invokes a conserved choreography of chromosomal mis-segregations in pancreatic neuroendocrine tumor.
Quevedo R et al.
Genome Medicine, 2020
Genomic profiling of colorectal cancer with isolated lung metastasis.
Zhang N et al.
Cancer Cell International, 2020
Human primary liver cancer-derived organoid cultures for disease modeling and drug screening.
Broutier L et al.
Nature Medicine, 2017
Recurrent mutation of IGF signalling genes and distinct patterns of genomic rearrangement in osteosarcoma.
Behjati S et al.
Nature Communications, 2017
Mutations in cardiovascular connexin genes.
Molica F et al.
Biology of the Cell, 2014
Atrial fibrillation: the role of common and rare genetic variants.
Olesen MS et al.
European Journal of Human Genetics : Ejhg, 2014
Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system?
De Bock M et al.
Frontiers in Pharmacology, 2013
Cardiac connexins, mutations and arrhythmias.
Delmar M et al.
Current Opinion in Cardiology, 2012
Genetic testing of candidate genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia.
Campuzano O et al.
European Journal of Medical Genetics, 2012
Paradigm of genetic mosaicism and lone atrial fibrillation: physiological characterization of a connexin 43-deletion mutant identified from atrial tissue.
Thibodeau IL et al.
Circulation, 2010
Novel mutations in the connexin43 (GJA1) and GJA1 pseudogene may contribute to nonsyndromic hearing loss.
Hong HM et al.
Human Genetics, 2010
Identification of mutations in members of the connexin gene family as a cause of nonsyndromic deafness in Taiwan.
Yang JJ et al.
Audiology & Neuro-otology, 2007