Associated Papers
Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease.
Malhotra A et al.
Hgg Advances, 2025
40195116 (PubMed )
Supplement: mmc1.xlsx › Multiple_molecular_diagnoses
Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.
Lei H et al.
Human Genomics, 2024
38287404 (PubMed )
Supplement: 40246_2024_573_MOESM3_ESM.xls › PMS2
PMS2CL interference leading to erroneous identification of a pathogenic PMS2 variant in Black patients.
Cappadocia J et al.
Genetics in Medicine Open, 2024
39669620 (PubMed )
Supplement: mmc1.pdf
PMS2 Pathogenic Variant in Lynch Syndrome-Associated Colorectal Cancer with Polyps.
Poaty H et al.
Global Medical Genetics, 2023
Detection of DNA mismatch repair deficient crypts in random colonoscopic biopsies identifies Lynch syndrome patients.
Brand RE et al.
Familial Cancer, 2020
The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.
Senter L et al.
Gastroenterology, 2008
Long-range PCR facilitates the identification of PMS2-specific mutations.
Clendenning M et al.
Human Mutation, 2006
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