Helena Kääriäinen

Incidence of Hereditary Nonpolyposis Colorectal Cancer and the Feasibility of Molecular Screening for the Disease

Lauri A. Aaltonen, Reijo Salovaara, Paula Kristo et al. · New England Journal of Medicine · 1998 · 1.2K citations · Full text

Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease

Giovanni Romeo, Patrizia Ronchetto, Yin Luo et al. · Nature · 1994 · 702 citations

Somatic Variant, Point Mutations, Mendelian Disorder +10

Population-Based Molecular Detection of Hereditary Nonpolyposis Colorectal Cancer

Reijo Salovaara, Anu Loukola, Paula Kristo et al. · Journal of Clinical Oncology · 2000 · 520 citations

The Axon Guidance Receptor Gene ROBO1 Is a Candidate Gene for Developmental Dyslexia

Katariina Hannula‐Jouppi, Nina Kaminen‐Ahola, Mikko Taipale et al. · PLoS Genetics · 2005 · 331 citations · Full text

Genetics, Disease Gene Identification, Social Sciences +18

Mitochondrial DNA Polymerase W748S Mutation: A Common Cause of Autosomal Recessive Ataxia with Ancient European Origin

Anna H. Hakonen, Silja Heiskanen, Vesa Juvonen et al. · The American Journal of Human Genetics · 2005 · 305 citations · Full text

Mendelian Disorder, Mitochondrial Function, Genetic Disorder +10