Copy number variation detection and genotyping from exome sequence data

• Bleeding symptoms in persons with rare bleeding disorders and a heterozygous genotype: data from the Rare Bleeding Disorders in the Netherlands study

  2025 Journal of Thrombosis and Haemostasis article Medicine Hemophilia Treatment and Research Open access

  3

  citations
• Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses

  2024 npj Genomic Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

  10

  citations
• Targeted exome analysis in patients with rare bleeding disorders: data from the Rare Bleeding Disorders in the Netherlands study

  2024 Research and Practice in Thrombosis and Haemostasis article Medicine Hemophilia Treatment and Research Open access

  11

  citations
• Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study

  2022 eLife article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access

  11

  citations
• Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: a retrospective cohort study

  2022 medRxiv preprint Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access

  2

  citations
• Delineating the molecular and phenotypic spectrum of the SETD1B -related syndrome

  2021 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access

  0

  citations
• Technologies for Pharmacogenomics: A Review

  2020 Genes article Pharmacology, Toxicology and Pharmaceutics Pharmacogenetics and Drug Metabolism Open access

  83

  citations

7 results