Associated Papers
Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.
Kaschta D et al.
Genome Medicine, 2025
40963120 (PubMed )
Supplement: 13073_2025_1516_MOESM1_ESM.xlsx › S5_Secondary_Findings
Pembrolizumab Monotherapy for Early-Stage Triple-Negative Breast Cancer in a Patient With Lynch Syndrome.
Gowda S et al.
Jco Precision Oncology, 2025
Genetic heterogeneity in childhood leukemia/lymphoma: a Turkish cohort with strong predisposition.
Onder G et al.
Frontiers in Genetics, 2025
Germline mismatch repair gene mutations in children with tumors: a case series from two centers.
Li CY et al.
Translational Pediatrics, 2024
Discordant Staining Patterns and Microsatellite Results in Tumors of MSH6 Pathogenic Variant Carriers.
van der Werf-'t Lam AS et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2023
Circulating Tumor DNA Analysis on Metastatic Prostate Cancer with Disease Progression.
Bang S et al.
Cancers, 2023
37568814 (PubMed )
Supplement: cancers-15-03998-s001.zip › Supplementary_Table_S1_Patient_demographics.xlsx › Sheet1
A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage.
Zou X et al.
Nature Cancer, 2021
34164627 (PubMed )
Supplement: EMS120222-supplement-Supplementary_tables.xlsx › TableS11
Frequency of genomic secondary findings among 21,915 eMERGE network participants.
Unknown Author
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32546831 (PubMed )
Supplement: NIHMS1615423-supplement-Supplementary_Table_2.xlsx › Sheet1
Atypical dermal melanocytosis: a diagnostic clue in constitutional mismatch repair deficiency syndrome.
Polubothu S et al.
The British Journal of Dermatology, 2017
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
Yurgelun MB et al.
Gastroenterology, 2015
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