Associated Papers
Germline Whole-Exome Sequencing in Non-Smoker Lung Cancer Patients Reveals Pathogenic Variants in Lung Cancer Driver Genes.
Carapezza G et al.
Genes, Chromosomes & Cancer, 2025
Rare variants in cardiomyopathy genes predispose to cardiac injury in severe COVID-19 patients of African or Hispanic ancestry.
Qu HQ et al.
Journal of Molecular Medicine (berlin, Germany), 2025
Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome).
Wilson GN et al.
Current Issues in Molecular Biology, 2024
Presumed Pathogenic Germ Line and Somatic Variants in African American Thyroid Cancer.
Hurst ZA et al.
Thyroid : Official Journal of the American Thyroid Association, 2024
Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy.
Spielmann N et al.
Nature Cardiovascular Research, 2022
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
251st ENMC international workshop: Polyglucosan storage myopathies 13-15 December 2019, Hoofddorp, the Netherlands.
Laforêt P et al.
Neuromuscular Disorders : Nmd, 2021
Mutation profiling in eight cases of vagal paragangliomas.
Kudryavtseva AV et al.
Bmc Medical Genomics, 2020
Glycogenin-1 deficiency mimicking limb-girdle muscular dystrophy.
Lefeuvre C et al.
Molecular Genetics and Metabolism Reports, 2020
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Identification of a variant hotspot in MYBPC3 and of a novel CSRP3 autosomal recessive alteration in a cohort of Polish patients with hypertrophic cardiomyopathy.
Lipari M et al.
Polish Archives of Internal Medicine, 2020
Glycogenin is Dispensable for Glycogen Synthesis in Human Muscle, and Glycogenin Deficiency Causes Polyglucosan Storage.
Visuttijai K et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
Functional characterization of GYG1 variants in two patients with myopathy and glycogenin-1 deficiency.
Hedberg-Oldfors C et al.
Neuromuscular Disorders : Nmd, 2019
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Polyglucosan myopathy and functional characterization of a novel GYG1 mutation.
Hedberg-Oldfors C et al.
Acta Neurologica Scandinavica, 2018
Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature.
Hedberg-Oldfors C et al.
Journal of Inherited Metabolic Disease, 2017
A new muscle glycogen storage disease associated with glycogenin-1 deficiency.
Malfatti E et al.
Annals of Neurology, 2014