Eva Holmberg
Angiologica (Italy)(IT)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Pharmacological Effects and Assays, Genetic factors in colorectal cancer, Genomics and Rare Diseases, Neurogenetic and Muscular Disorders Research
Most-Cited Works
- → Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans(2009)318 cited
- → Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders(2016)273 cited
- → Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy(2014)201 cited
- → Somatic deletions in hereditary breast cancers implicate 13q21 as a putative novel breast cancer susceptibility locus(2000)186 cited
- Moderate frequency of BRCA1 and BRCA2 germ-line mutations in Scandinavian familial breast cancer.(1997)
- → Fifty probands with extra structurally abnormal chromosomes characterized by fluorescence in situ hybridization(1995)155 cited
- → Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy(2006)116 cited
- → Swedish survey on extra structurally abnormal chromosomes in 39 105 consecutive prenatal diagnoses: Prevalence and characterization by fluorescence in situ hybridization(1994)109 cited
- HLA-DQ primarily confers protection and HLA-DR susceptibility in type I (insulin-dependent) diabetes studied in population-based affected families and controls.(1993)
- → Multiple founder effects and geographical clustering of BRCA1 and BRCA2 families in Finland(2000)101 cited