ClinVar: improvements to accessing data

• Protocol for the functional evaluation of genetic variants using saturation genome editing

  2025 STAR Protocols article Biochemistry, Genetics and Molecular Biology CRISPR and Genetic Engineering Open access

  3

  citations
• Standardizing variant naming in literature with VariantValidator to increase diagnostic rates

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

  19

  citations
• De novo missense variants in HDAC3 leading to epigenetic machinery dysfunction are associated with a variable neurodevelopmental disorder

  2024 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access

  10

  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
• Submitting Novel Globin Gene Variants to Hemoglobin

  2023 Hemoglobin article Medicine Hemoglobinopathies and Related Disorders Open access

  1

  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
• A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids

  2022 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access

  47

  citations
• The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases

  2022 Human Mutation article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

  60

  citations
• A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids

  2021 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access

  4

  citations
• Verifying nomenclature of DNA variants in submitted manuscripts: Guidance for journals

  2020 Human Mutation article Arts and Humanities Academic Writing and Publishing Open access

  14

  citations

10 results