Altered regulation of BRCA1 exon 11 splicing is associated with breast cancer risk in carriers of BRCA1 pathogenic variants. Read more about Altered regulation of BRCA1 exon 11 splicing is associated with breast cancer risk in carriers of BRCA1 pathogenic variants.
Assessing the performance of in silico methods for predicting the pathogenicity of variants in the gene CHEK2, among Hispanic females with breast cancer. Read more about Assessing the performance of in silico methods for predicting the pathogenicity of variants in the gene CHEK2, among Hispanic females with breast cancer.
Integration of multiple epigenomic marks improves prediction of variant impact in saturation mutagenesis reporter assay. Read more about Integration of multiple epigenomic marks improves prediction of variant impact in saturation mutagenesis reporter assay.
Meta-analysis of massively parallel reporter assays enables prediction of regulatory function across cell types. Read more about Meta-analysis of massively parallel reporter assays enables prediction of regulatory function across cell types.
Functional and structural analysis of rare SLC2A2 variants associated with Fanconi-Bickel syndrome and metabolic traits. Read more about Functional and structural analysis of rare SLC2A2 variants associated with Fanconi-Bickel syndrome and metabolic traits.
Mutations in the fourth β-propeller domain of LRP4 are associated with isolated syndactyly with fusion of the third and fourth fingers. Read more about Mutations in the fourth β-propeller domain of LRP4 are associated with isolated syndactyly with fusion of the third and fourth fingers.
Whole exome and whole genome sequencing with dried blood spot DNA without whole genome amplification. Read more about Whole exome and whole genome sequencing with dried blood spot DNA without whole genome amplification.
A novel ZRS mutation leads to preaxial polydactyly type 2 in a heterozygous form and Werner mesomelic syndrome in a homozygous form. Read more about A novel ZRS mutation leads to preaxial polydactyly type 2 in a heterozygous form and Werner mesomelic syndrome in a homozygous form.
An evaluation of copy number variation detection tools from whole-exome sequencing data. Read more about An evaluation of copy number variation detection tools from whole-exome sequencing data.
Activating mutations cluster in the "molecular brake" regions of protein kinases and do not associate with conserved or catalytic residues. Read more about Activating mutations cluster in the "molecular brake" regions of protein kinases and do not associate with conserved or catalytic residues.
