January 01, 2007 article Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker Human Mutation DOI: 10.1002/humu.20654 OpenAlex Authors 0 Author list not loaded yet. Cited by 7 stored of 393 Search Sort Most cited Newest Oldest Patent citations Title Any typearticle review book-chapter conference-paper preprint dissertation book dataset other Any fieldAgricultural and Biological Sciences Arts and Humanities Biochemistry, Genetics and Molecular Biology Business, Management and Accounting Chemical Engineering Chemistry Computer Science Decision Sciences Dentistry Earth and Planetary Sciences Economics, Econometrics and Finance Energy Engineering Environmental Science Health Professions Immunology and Microbiology Materials Science Mathematics Medicine Neuroscience Nursing Pharmacology, Toxicology and Pharmaceutics Physics and Astronomy Psychology Social Sciences Veterinary Open access Hematologically important mutations: Leukocyte adhesion deficiency (second update) 2023 Blood Cells Molecules and Diseases article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access cited by 1 patent 26 citations NR2F1database: 112 variants and 84 patients support refining the clinical synopsis of Bosch–Boonstra–Schaaf optic atrophy syndrome 2021 Human Mutation article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 20 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 Mutalyzer 2: next generation HGVS nomenclature checker 2021 Bioinformatics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 132 citations A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration 2021 Scientific Data data-paper Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access 37 citations General considerations 2021 Elsevier eBooks book-chapter Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases 1 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 7 results References 0