CADD-Splice—improving genome-wide variant effect prediction using deep learning-derived splice scores

• IRF2BP2 deficiency: An important form of common variable immunodeficiency with inflammation

  2025 Journal of Allergy and Clinical Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access

  7

  citations
• Systematic assessment of COVID-19 host genetics using whole genome sequencing data

  2024 PLoS Pathogens article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology 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
• Serum proteomics reveals hemophagocytic lymphohistiocytosis-like phenotype in a subset of patients with multisystem inflammatory syndrome in children

  2024 Clinical Immunology article Medicine Kawasaki Disease and Coronary Complications Open access

  6

  citations
• Meta-analysis of ACE inhibitor–induced angioedema identifies novel risk locus

  2024 Journal of Allergy and Clinical Immunology review Medicine Coagulation, Bradykinin, Polyphosphates, and Angioedema Open access

  15

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

  2023 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

  15

  citations
• From gene to dose: Long-read sequencing and *-allele tools to refine phenotype predictions of CYP2C19

  2023 Frontiers in Pharmacology article Pharmacology, Toxicology and Pharmaceutics Pharmacogenetics and Drug Metabolism Open access

  17

  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
• Additional file 1 of Identification of compound heterozygous variants in MSH4 as a novel genetic cause of diminished ovarian reserve

  2023 Figshare dataset Medicine Ovarian function and disorders Open access

  0

  citations
• Molecular Genetic Screening in Patients With ACE Inhibitor/Angiotensin Receptor Blocker-Induced Angioedema to Explore the Role of Hereditary Angioedema Genes

  2022 Frontiers in Genetics article Medicine Coagulation, Bradykinin, Polyphosphates, and Angioedema Open access

  13

  citations
• De novo variants in ATP2B1 lead to neurodevelopmental delay

  2022 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access

  25

  citations

11 results