Leiden University Scholarly Publications

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(1 - 23 of 23)

: The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant

: Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry

: Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome

: Usefulness of NGS for diagnosis of dominant beta-thalassemia and unstable hemoglobinopathies in five clinical cases

: Dynamic clonal hematopoiesis and functional T-cell immunity in a supercentenarian

: Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2

: Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data

: Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

: Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis

: A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer

: Age- and Tumor Subtype Specific Breast Cancer Risk Estimates for CHEK2*1100delC Carriers

: Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects

: Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

: Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk

: MicroRNA Related Polymorphisms and Breast Cancer Risk

: Best Practice Guidelines for the Use of Next-Generation Sequencing Applications in Genome Diagnostics: A National Collaborative Study of Dutch Genome Diagnostic Laboratories

: Genome-wide association studies identify four ER negative-specific breast cancer risk loci

: Large-scale genotyping identifies 41 new loci associated with breast cancer risk

: Genome-wide association analysis identifies three new breast cancer susceptibility loci

: Interplay between BRCA1 and RHAMM Regulates Epithelial Apicobasal Polarization and May Influence Risk of Breast Cancer

: Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2

: Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers

: Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers