Elke Holinski‐Feder

Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

Mev Dominguez–Valentin, Julian R. Sampson, Toni T. Seppälä et al. · Genetics in Medicine · 2019 · 615 citations · Full text

Cancer risk and survival in <i>path_MMR</i> carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database

Pål Møller, Toni T. Seppälä, Inge Bernstein et al. · Gut · 2017 · 544 citations · Full text

Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database

Pål Møller, Toni T. Seppälä, Inge Bernstein et al. · Gut · 2015 · 531 citations · Full text

Expansion of the Fragile X CGG Repeat in Females with Premutation or Intermediate Alleles

Sarah L. Nolin, W. Ted Brown, Anne Glicksman et al. · The American Journal of Human Genetics · 2003 · 418 citations · Full text

Allelic Variant, Genetic Disorder, Genetics +6

Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies

Robert W. Taylor, Angela Pyle, Helen Griffin et al. · JAMA · 2014 · 361 citations · Full text