Circular binary segmentation for the analysis of array-based DNA copy number data

• 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
• Chromosomal copy number based stratification of gastric cancer has added prognostic value to Lauren’s histological classification

  2024 BJC Reports article Medicine Gastric Cancer Management and Outcomes Open access

  4

  citations
• Archival single-cell genomics reveals persistent subclones during DCIS progression

  2023 Cell article Biochemistry, Genetics and Molecular Biology Cancer Genomics and Diagnostics Open access

  61

  citations
• Clinical outcome of pediatric medulloblastoma patients with Li–Fraumeni syndrome

  2023 Neuro-Oncology article Medicine Glioma Diagnosis and Treatment Open access

  24

  citations
• Overexpression of the miR-17-92 cluster in colorectal adenoma organoids causes a carcinoma-like gene expression signature

  2022 Neoplasia article Biochemistry, Genetics and Molecular Biology MicroRNA in disease regulation Open access

  15

  citations
• Genomic analysis defines clonal relationships of ductal carcinoma in situ and recurrent invasive breast cancer

  2022 Nature Genetics article Biochemistry, Genetics and Molecular Biology Cancer Genomics and Diagnostics Open access

  98

  citations
• Genomic profiling defines variable clonal relatedness between invasive breast cancer and primary ductal carcinoma in situ

  2021 medRxiv preprint Biochemistry, Genetics and Molecular Biology Cancer Genomics and Diagnostics Open access

  4

  citations
• Comprehensive analysis of cutaneous and uveal melanoma liver metastases

  2020 Journal for ImmunoTherapy of Cancer article Medicine Cancer Immunotherapy and Biomarkers Open access

  69

  citations

8 results