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Kristina Lagerstedt‐Robinson | Researchclopedia

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Kristina Lagerstedt‐Robinson

Karolinska University Hospital ORCID

128

Works

4,046

Citations

33

h-index

62

i10-index

Research Topics

Genetic factors in colorectal cancer Genomics and Rare Diseases Cancer Genomics and Diagnostics

Affiliations

Linköping University2018–2018

Uppsala University1997–2000

Karolinska University Hospital2004–2025

University of Helsinki2007–2007

Howard Hughes Medical Institute2007–2007

Top Works

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

Leigha Senter,Mark Clendenning,et al.

2008546 citations

Colorectal Cancer Screening and Detection

Genomic variations and chromosomal abnormalities

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

on behalf of InSiGHT,Bryony A. Thompson,et al.

2013471 citations

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,et al.

2021260 citations

Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) Diagnostics

Kristina Lagerstedt‐Robinson,Thalia D. Liu,et al.

2007219 citations

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

Kristien Hoornaert,Inge Vereecke,et al.

2010150 citations

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,et al.

2019142 citations

Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study

Aung Ko Win,James G. Dowty,et al.

2021113 citations

DNA repair genes are selectively mutated in diffuse large B cell lymphomas

Noel F.C.C. de Miranda,Roujun Peng,et al.

2013101 citations

FGFR2, FGF8, FGF10 and BMP7 as candidate genes for hypospadias

Ana Beleza‐Meireles,Fredrik Lundberg,et al.

200783 citations