W6691995666

• ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature

  2025 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access

  8

  citations
• Genetic association analysis and frequency of NUDT15*3 with thiopurine-induced myelosuppression in patients with inflammatory bowel disease in a large Dutch cohort

  2024 The Pharmacogenomics Journal article Pharmacology, Toxicology and Pharmaceutics Pharmacogenetics and Drug Metabolism Open access

  5

  citations
• Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individuals

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

  14

  citations
• Aberrant phase separation and nucleolar dysfunction in rare genetic diseases

  2023 Nature article Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access cited by 1 patent

  168

  citations
• Genetic pain loss disorders

  2022 Nature Reviews Disease Primers review Neuroscience Hereditary Neurological Disorders Open access cited by 2 patents

  60

  citations
• Clinical delineation of SETBP1 haploinsufficiency disorder

  2021 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

  67

  citations
• Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1

  2020 European Journal of Human Genetics article Medicine Fetal and Pediatric Neurological Disorders Open access

  30

  citations
• Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

  2020 Nature Communications article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access

  223

  citations
• Inferring clonal composition from multiple tumor biopsies

  2020 npj Systems Biology and Applications article Biochemistry, Genetics and Molecular Biology Cancer Genomics and Diagnostics Open access

  0

  citations

9 results