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European Journal of Human Genetics : EJHG|October 17, 2024
ERN GENTURIS guidelines on constitutional mismatch repair deficiency diagnosis, genetic counselling, surveillance, quality of life, and clinical managementChrystelle Colas, Léa Guerrini-Rousseau, Manon Suerink, et al.
Cancers|January 27, 2021
How Should We Test for Lynch Syndrome? A Review of Current Guidelines and Future StrategiesRichard Gallon, Peter Gawthorpe, Rachel L Phelps, et al.
Biomolecules|October 27, 2022
Teenage-Onset Colorectal Cancers in a Digenic Cancer Predisposition Syndrome Provide Clues for the Interaction between Mismatch Repair and Polymerase δ Proofreading Deficiency in TumorigenesisEsther Schamschula, Miriam Kinzel, Annekatrin Wernstedt, et al.
International Journal of Cancer|February 10, 2018
Three molecular pathways model colorectal carcinogenesis in Lynch syndromeAysel Ahadova, Richard Gallon, Johannes Gebert, et al.
Clinical and Experimental Dermatology|January 23, 2025
Novel microsatellite instability test of sebaceous tumours to facilitate low-cost universal screening for Lynch syndromeRichard Gallon, Georgie Holt, Waleed Alfailakawi, et al.
European Journal of Human Genetics : EJHG|August 20, 2025
EMQN best practice guidelines for analysis and reporting of microsatellite instability in solid tumoursRichard Gallon, Liam McCormick, Angelica Saetta, et al.
BMC Genomics|April 22, 2018
Analysis of human ES cell differentiation establishes that the dominant isoforms of the lncRNAs RMST and FIRRE are circularOsagie G Izuogu, Abd A Alhasan, Carla Mellough, et al.
Frontiers in Oncology|May 5, 2023
Mismatch repair deficiency testing in Lynch syndrome-associated urothelial tumorsMaria Rasmussen, Peter Sowter, Richard Gallon, et al.
Frontiers in Oncology|September 4, 2023
Constitutional mismatch repair deficiency syndrome with atypical features caused by a homozygous <i>MLH1</i> missense variant (c.1918C>A, p.(Pro640Thr)): a case reportFiras Akrout, Ahlem Achour, Carli M J Tops, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 11, 2020
Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1Juan A Perez-Valencia, Richard Gallon, Yunjia Chen, et al.
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