VariantValidator: Accurate validation, mapping, and formatting of sequence variation descriptions

• Why Non-ASCII Unicode Characters Should Not Be Used in the Human Genome Variation Society Nomenclature

  2026 Journal of Molecular Diagnostics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

  0

  citations
• De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa

  2026 Nature Genetics article Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access

  16

  citations
• A graph-based approach to variant description extraction from sequences

  2025 NAR Genomics and Bioinformatics article Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access

  0

  citations
• Further Delineation of the AUTS2 HX Repeat Domain‐Related Phenotype

  2025 American Journal of Medical Genetics Part A article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access

  3

  citations
• De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa

  2025 medRxiv preprint Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access

  15

  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
• Lessons learned from the first national population-based genetic carrier-screening program for Duchenne muscular dystrophy

  2023 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

  11

  citations
• A Boolean algebra for genetic variants

  2023 Bioinformatics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

  1

  citations
• Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies

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

  15

  citations
• Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2 and HBB associated with haemoglobinopathies

  2022 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

  0

  citations
• The LOVD3 platform: efficient genome-wide sharing of genetic variants

  2021 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

  157

  citations
• Mutalyzer 2: next generation HGVS nomenclature checker

  2021 Bioinformatics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

  132

  citations
• General considerations

  2021 Elsevier eBooks book-chapter Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases

  1

  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
• Mutalyzer 2: Next Generation HGVS Nomenclature Checker

  2020 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

  9

  citations

15 results