Mauro Koref-Santibanez

Central Parkway
Newcastle Upon Tyne, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 86 publications

Detection of urothelial carcinoma in Lynch syndrome using microsatellite instability analysis of urine cell-free DNA.

Detection of urothelial carcinoma in Lynch syndrome using microsatellite instability analysis of urine cell-free DNA.

Journal: EBioMedicine

Published: April 30, 2025

Author Correction: Large-scale benchmarking of circRNA detection tools reveals large differences in sensitivity but not in precision.

Author Correction: Large-scale benchmarking of circRNA detection tools reveals large differences in sensitivity but not in precision.

Journal: Nature methods

Published: January 17, 2025

Novel microsatellite instability test of sebaceous tumours to facilitate low-cost universal screening for Lynch syndrome.

Novel microsatellite instability test of sebaceous tumours to facilitate low-cost universal screening for Lynch syndrome.

Journal: Clinical and experimental dermatology

Published: October 08, 2024

Detection of Mismatch Repair Deficiency in Endometrial Cancer: Assessment of IHC, Fragment Length Analysis, and Amplicon Sequencing Based MSI Testing.

Detection of Mismatch Repair Deficiency in Endometrial Cancer: Assessment of IHC, Fragment Length Analysis, and Amplicon Sequencing Based MSI Testing.

Journal: Cancers

Published: October 04, 2024

A novel colorectal cancer test combining microsatellite instability and BRAF/RAS analysis: Clinical validation and impact on Lynch syndrome screening.

A novel colorectal cancer test combining microsatellite instability and BRAF/RAS analysis: Clinical validation and impact on Lynch syndrome screening.

Journal: BJC reports

Published: March 29, 2024

Early-stage idiopathic Parkinson's disease is associated with reduced circular RNA expression.

Early-stage idiopathic Parkinson's disease is associated with reduced circular RNA expression.

Journal: NPJ Parkinson's disease

Published: July 25, 2023

Mismatch repair deficiency testing in Lynch syndrome-associated urothelial tumors.

Mismatch repair deficiency testing in Lynch syndrome-associated urothelial tumors.

Journal: Frontiers in oncology

Published: January 18, 2023

Large-scale benchmarking of circRNA detection tools reveals large differences in sensitivity but not in precision.

Large-scale benchmarking of circRNA detection tools reveals large differences in sensitivity but not in precision.

Journal: Nature methods

Published: December 06, 2022

Detection of constitutional mismatch repair deficiency in children and adolescents with acute lymphoblastic leukemia.

Detection of constitutional mismatch repair deficiency in children and adolescents with acute lymphoblastic leukemia.

Journal: Leukemia & lymphoma

Published: October 22, 2022

Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency.

Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency.

Journal: Gastroenterology

Published: September 08, 2022

Is HLA type a possible cancer risk modifier in Lynch syndrome?

Is HLA type a possible cancer risk modifier in Lynch syndrome?

Journal: International journal of cancer

Published: July 15, 2022

Detection of Microsatellite Instability in Colonoscopic Biopsies and Postal Urine Samples from Lynch Syndrome Cancer Patients Using a Multiplex PCR Assay.

Detection of Microsatellite Instability in Colonoscopic Biopsies and Postal Urine Samples from Lynch Syndrome Cancer Patients Using a Multiplex PCR Assay.

Journal: Cancers

Published: May 31, 2022

Showing 1-12 of 86

Last Updated: 09/26/2026