The Human Phenotype Ontology in 2017

• Mental disorders in people with undiagnosed diseases presenting to German centres for rare diseases – prevalence, type and relevance

  2025 Psychiatry Research article Medicine Psychosomatic Disorders and Their Treatments Open access

  1

  citations
• Syndromic retinitis pigmentosa

  2024 Progress in Retinal and Eye Research article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access

  39

  citations
• Molecular mechanisms of human overgrowth and use of omics in its diagnostics: chances and challenges

  2024 Frontiers in Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

  5

  citations
• PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework

  2023 Nature Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access cited by 1 patent

  82

  citations
• Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands

  2023 European Journal of Pediatrics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

  31

  citations
• Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia

  2022 Annals of Neurology article Neuroscience Hereditary Neurological Disorders Open access

  9

  citations
• ACO2 clinicobiological dataset with extensive phenotype ontology annotation

  2021 Scientific Data data-paper Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

  8

  citations
• Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity

  2021 Journal of Allergy and Clinical Immunology article Biochemistry, Genetics and Molecular Biology Biomedical Text Mining and Ontologies Open access

  33

  citations
• The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for research

  2020 F1000Research article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access

  7

  citations
• Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies

  2020 The American Journal of Human Genetics article Medicine Epilepsy research and treatment Open access

  47

  citations

10 results