Associated Papers
Benchmarking RNA-seq Tools for Real-World Diagnostic Applications.
Silverstein S et al.
Medrxiv : the Preprint Server for Health Sciences, 2026
Validation of a comprehensive long-read sequencing platform for broad clinical genetic diagnosis.
Sen S et al.
Frontiers in Genetics, 2025
Aberrant myonuclear domains and impaired myofiber contractility despite marked hypertrophy in MYMK-related, Carey-Fineman-Ziter Syndrome.
Dugdale HF et al.
Acta Neuropathologica Communications, 2024
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
A gene pathogenicity tool "GenePy" identifies missed biallelic diagnoses in the 100,000 Genomes Project.
Seaby EG et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
Molecular regulation of myocyte fusion.
Wherley TJ et al.
Current Topics in Developmental Biology, 2024
Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.
Aguiar T et al.
Frontiers in Genetics, 2022
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
Carey-Fineman-Ziter Syndrome: A MYMK-Related Myopathy Mimicking Brainstem Dysgenesis.
Camacho A et al.
Journal of Neuromuscular Diseases, 2020
Workflow for the Implementation of Precision Genomics in Healthcare.
Mehandziska S et al.
Frontiers in Genetics, 2020
Carey-Fineman-Ziter syndrome with mutations in the myomaker gene and muscle fiber hypertrophy.
Hedberg-Oldfors C et al.
Neurology. Genetics, 2018
Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome.
Alrohaif H et al.
Neurology. Genetics, 2018
A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.
Di Gioia SA et al.
Nature Communications, 2017