Helena Kääriäinen
Finnish Institute for Health and Welfare(FI)
Publications by Year
Research Areas
BRCA gene mutations in cancer, Genomics and Rare Diseases, Nutrition, Genetics, and Disease, Prenatal Screening and Diagnostics, Genetic factors in colorectal cancer
Most-Cited Works
- → Incidence of Hereditary Nonpolyposis Colorectal Cancer and the Feasibility of Molecular Screening for the Disease(1998)1,164 cited
- → Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease(1994)702 cited
- → Population-Based Molecular Detection of Hereditary Nonpolyposis Colorectal Cancer(2000)520 cited
- → The Axon Guidance Receptor Gene ROBO1 Is a Candidate Gene for Developmental Dyslexia(2005)332 cited
- → Mitochondrial DNA Polymerase W748S Mutation: A Common Cause of Autosomal Recessive Ataxia with Ancient European Origin(2005)306 cited
- → Mutations in SEC63 cause autosomal dominant polycystic liver disease(2004)282 cited
- → Splicing Mutations of 54-bp Exons in the COL11A1 Gene Cause Marshall Syndrome, but Other Mutations Cause Overlapping Marshall/Stickler Phenotypes