Kristina Lagerstedt‐Robinson

The Clinical Phenotype of Lynch Syndrome Due to Germ-Line PMS2 Mutations

Leigha Senter, Mark Clendenning, Kaisa Sotamaa et al. · Gastroenterology · 2008 · 548 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

Bryony A. Thompson, Amanda B. Spurdle, John‐Paul Plazzer et al. · Nature Genetics · 2013 · 476 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

Henrik Stranneheim, Kristina Lagerstedt‐Robinson, Måns Magnusson et al. · Genome Medicine · 2021 · 271 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) Diagnostics

Kristina Lagerstedt‐Robinson, Thalia D. Liu, Jana Vandrovcová et al. · JNCI Journal of the National Cancer Institute · 2007 · 219 citations · Full text

Medicine, Genetics, Oncology +17

Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients

Kristien Hoornaert, Inge Vereecke, Chantal Dewinter et al. · European Journal of Human Genetics · 2010 · 152 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10