Associated Papers
Genetic analysis and reporting from whole-exome sequencing data in 1052 patients with intellectual disability.
Pan X et al.
Journal of Molecular Medicine (berlin, Germany), 2026
Microsatellite Stable Colorectal Tumours in Patients with Lynch Syndrome: A Case Report and Systematic Review Analysing Clinical Features and Implications for Immunotherapy.
Kapoulitsa F et al.
Journal of Gastrointestinal Cancer, 2025
Germline Profiling and Molecular Characterization of Early Onset Metastatic Colorectal Cancer.
Xu T et al.
Frontiers in Oncology, 2020
Loss of MSH2 and MSH6 due to heterozygous germline defects in MSH3 and MSH6.
Morak M et al.
Familial Cancer, 2017
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.
Carmi S et al.
Nature Communications, 2014
25203624 (PubMed )
Supplement: ncomms5835-s5.xlsx › List_of_all_discovered_variants
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