Human Mutation

文章名称引用次数

• Mutational spectrum in a worldwide study of 700 families with BRCA1 or BRCA2 mutations34
• ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation25
• MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domains20
• VariantValidator: Accurate validation, mapping, and formatting of sequence variation descriptions18
• Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies17
• Ten years of DICER1 mutations: Provenance, distribution, and associated phenotypes13
• Toward mechanistic models for genotype-phenotype correlations in phenylketonuria using protein stability calculations12
• Autosomal recessive primary microcephaly due to ASPM mutations: An update11
• The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations11
• Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene11