Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

• HiFi long-read RNA sequencing enhances clinical diagnostics in rare disorders

  2026 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

  5

  citations
• Whole-Genome Landscape of Retinal Hemangioblastomas

  2026 Translational Vision Science & Technology article Medicine Ocular Oncology and Treatments Open access

  1

  citations
• Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

  2024 Nature Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

  56

  citations
• Case report: a novel deep intronic splice-altering variant in DMD as a cause of Becker muscular dystrophy

  2023 Frontiers in Genetics article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access

  1

  citations
• High‐yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing

  2022 Human Mutation article Medicine Neurofibromatosis and Schwannoma Cases Open access

  19

  citations
• Diagnostic capabilities of nanopore long‐read sequencing in muscular dystrophy

  2022 Annals of Clinical and Translational Neurology article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

  42

  citations
• Nintedanib targets KIT D816V neoplastic cells derived from induced pluripotent stem cells of systemic mastocytosis

  2020 Blood article Immunology and Microbiology Mast cells and histamine Open access

  29

  citations
• Bi-allelic truncating mutations in VWA1 cause neuromyopathy

  2020 Brain article Neuroscience Hereditary Neurological Disorders Open access

  39

  citations
• Genetic testing offer for inherited neuromuscular diseases within the EURO-NMD reference network: A European survey study

  2020 PLoS ONE article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

  11

  citations

9 results