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 · 544 citations · Full text

Autoimmune Disease, Genetic Disorder, Medicine +10

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 · 253 citations · Full text

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

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 · 147 citations · Full text

Mendelian Disorder, Autoimmune Disease, Genetic Disorder +11

From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability

Anna Lindstrand, Jesper Eisfeldt, Maria Pettersson et al. · Genome Medicine · 2019 · 139 citations · Full text