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Human Mutation|September 11, 2014
Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variabilitySandra Donkervoort, Ying Hu, Tanya Stojkovic, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 21, 2022
Genome Alert!: A standardized procedure for genomic variant reinterpretation and automated gene-phenotype reassessment in clinical routineKevin Yauy, François Lecoquierre, Stéphanie Baert-Desurmont, et al.
European Journal of Heart Failure|November 28, 2012
Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriersIngrid A W van Rijsingen, Eline A Nannenberg, Eloisa Arbustini, et al.
Genes|August 27, 2021
An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 FamiliesRaul Juntas Morales, Aurélien Perrin, Guilhem Solé, et al.
Ebiomedicine|December 19, 2022
Inflammatory markers and auto-Abs to type I IFNs in COVID-19 convalescent plasma cohort studyFabrice Cognasse, Hind Hamzeh-Cognasse, Mickael Rosa, et al.
Journal of Neuromuscular Diseases|July 28, 2026
Expanding the phenotypic spectrum of COL6-related diseases: Motor neuropathy-like and neuromyopathy associated with COL6A3 c.7447A>GRocio Nur Villar-Quiles, A Reghan Foley, Corinne Metay, et al.
International Journal of Cardiology|July 10, 2021
A novel risk model for predicting potentially life-threatening arrhythmias in non-ischemic dilated cardiomyopathy (DCM-SVA risk)Elham Kayvanpour, Arjan Sammani, Farbod Sedaghat-Hamedani, et al.
Journal of Neuromuscular Diseases|March 22, 2021
Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related MyopathiesRocío N Villar-Quiles, Sandra Donkervoort, Alix de Becdelièvre, et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation|July 24, 2023
MYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onsetLuisa Marsili, Freyja H M van Lint, Francesco Russo, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|October 24, 2024
MYH7-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohortMarie Bahout, Gianmarco Severa, Emna Kamoun, et al.
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