Associated Papers
Precision proteogenomics reveals pan-cancer impact of germline variants.
Martins Rodrigues F et al.
Cell, 2025
Analysis of Concordance Between Next-Generation Sequencing Assessment of Microsatellite Instability and Immunohistochemistry-Mismatch Repair From Solid Tumors.
Ali-Fehmi R et al.
Jco Precision Oncology, 2024
Increased risk of kidney failure in patients with genetic kidney disorders.
Elliott MD et al.
The Journal of Clinical Investigation, 2024
39225089 (PubMed )
Supplement: jci-134-178573-s022.xlsx › Sheet_1
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_13
Genotype-phenotype correlations in carriers of the PMS2 founder variant c.1831dup.
Gass M et al.
Molecular Genetics & Genomic Medicine, 2024
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
Alternative lengthening of telomeres (ALT) in pediatric high-grade gliomas can occur without ATRX mutation and is enriched in patients with pathogenic germline mismatch repair (MMR) variants.
Stundon JL et al.
Neuro-oncology, 2023
Microsatellite instability in noncolorectal and nonendometrial malignancies in patients with Lynch syndrome.
Elze L et al.
Journal of the National Cancer Institute, 2023
37018159 (PubMed )
Supplement: djad063_supplementary_data.zip › djad063_Supplementary_Data › JNCI-22-1411_SupplementaryTable1_revised.xlsx › eTable_1
Identification of Lynch Syndrome Carriers among Patients with Small Bowel Adenocarcinoma.
Sánchez A et al.
Cancers, 2021
Genomes for Kids: The Scope of Pathogenic Mutations in Pediatric Cancer Revealed by Comprehensive DNA and RNA Sequencing.
Newman S et al.
Cancer Discovery, 2021
Implementing genomic screening in diverse populations.
Abul-Husn NS et al.
Genome Medicine, 2021
33546753 (PubMed )
Supplement: 13073_2021_832_MOESM1_ESM.pdf
Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Van Hout CV et al.
Nature, 2020
33087929 (PubMed )
Supplement: 41586_2020_2853_MOESM11_ESM.xlsx › Sheet1
Lynch Syndrome-Associated Variants and Cancer Rates in an Ancestrally Diverse Biobank.
Rosenblum RE et al.
Jco Precision Oncology, 2020
Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes.
Vaughn CP et al.
Human Mutation, 2010
Select a paper to view details