Variant Review with the Integrative Genomics Viewer

• Mutational patterns in a large cohort of parathyroid carcinomas

  2026 Journal of Endocrinological Investigation article Medicine Parathyroid Disorders and Treatments Open access

  0

  citations
• Transcriptional profiling directs the classification of acute leukemias of ambiguous lineage into AML, B‐ALL, or T‐ALL

  2025 HemaSphere article Medicine Acute Myeloid Leukemia Research Open access

  4

  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
• A fungal plant pathogen overcomes mlo‐mediated broad‐spectrum disease resistance by rapid gene loss

  2024 New Phytologist article Agricultural and Biological Sciences Powdery Mildew Fungal Diseases Open access

  12

  citations
• Gene-based association analysis of a large patient cohort provides insights into genetics of atypical femur fractures

  2024 Journal of Bone and Mineral Research article Medicine Bone health and osteoporosis research Open access

  2

  citations
• Dissecting the genetic landscape of GPCR signaling through phenotypic profiling in C. elegans

  2023 Nature Communications article Neuroscience Neurobiology and Insect Physiology Research Open access

  41

  citations
• Origin and spread of leprosy in Suriname. A historical and biomedical study

  2023 Frontiers in Tropical Diseases article Medicine Leprosy Research and Treatment Open access

  0

  citations
• Neoantigen Targetability in Progressive Advanced Melanoma

  2023 Clinical Cancer Research article Medicine Cancer Immunotherapy and Biomarkers Open access

  0

  citations
• Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort

  2023 Journal of Neuromuscular Diseases article Medicine Neurogenetic and Muscular Disorders Research Open access

  9

  citations
• Site‐specific analysis reveals candidate cross‐kingdom small RNAs, tRNA and rRNA fragments, and signs of fungal RNA phasing in the barley–powdery mildew interaction

  2023 Molecular Plant Pathology article Agricultural and Biological Sciences Powdery Mildew Fungal Diseases Open access

  58

  citations
• CD103 and CD39 coexpression identifies neoantigen-specific cytotoxic T cells in colorectal cancers with low mutation burden

  2023 Journal for ImmunoTherapy of Cancer article Medicine Cancer Immunotherapy and Biomarkers Open access

  29

  citations
• Site-specific analysis reveals candidate cross-kingdom small RNAs, tRNA and rRNA fragments, and signs of fungal RNA phasing in the barley-powdery mildew interaction

  2022 bioRxiv (Cold Spring Harbor Laboratory) preprint Agricultural and Biological Sciences Powdery Mildew Fungal Diseases Open access

  6

  citations
• Expanding the HPSE2 Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary Bladder

  2022 Frontiers in Genetics article Medicine Urinary Bladder and Prostate Research Open access

  22

  citations
• A fungal plant pathogen overcomes mlo -mediated broad-spectrum disease resistance by rapid gene loss

  2021 bioRxiv (Cold Spring Harbor Laboratory) preprint Agricultural and Biological Sciences Powdery Mildew Fungal Diseases Open access

  2

  citations
• Genetic Characterization of Mutations Related to Conidiophore Stalk Length Development in Aspergillus niger Laboratory Strain N402

  2021 Frontiers in Genetics article Biochemistry, Genetics and Molecular Biology Fungal and yeast genetics research Open access

  9

  citations
• Heme is crucial for medium-dependent metronidazole resistance in clinical isolates of C. difficile

  2020 bioRxiv (Cold Spring Harbor Laboratory) preprint Medicine Clostridium difficile and Clostridium perfringens research Open access

  2

  citations
• Genome-wide alternative splicing profiling in the fungal plant pathogen Sclerotinia sclerotiorum during the colonization of diverse host families

  2020 bioRxiv (Cold Spring Harbor Laboratory) preprint Agricultural and Biological Sciences Plant pathogens and resistance mechanisms Open access

  2

  citations
• Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information

  2020 Nature Communications article Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access

  39

  citations

18 results