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A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes.
Gallon R, Mühlegger B, Wenzel SS, Sheth H, Hayes C, Aretz S, Dahan K, Foulkes W, Kratz CP, Ripperger T, Azizi AA, Baris Feldman H, Chong AL, Demirsoy U, Florkin B, Imschweiler T, Januszkiewicz-Lewandowska D, Lobitz S, Nathrath M, Pander HJ, Perez-Alonso V, Perne C, Ragab I, Rosenbaum T, Rueda D, Seidel MG, Suerink M, Taeubner J, Zimmermann SY, Zschocke J, Borthwick GM, Burn J, Jackson MS, Santibanez-Koref M, Wimmer K. Gallon R, et al. Hum Mutat. 2019 May;40(5):649-655. doi: 10.1002/humu.23721. Epub 2019 Mar 6. Hum Mutat. 2019. PMID: 30740824 Free PMC article.
Sequencing-based microsatellite instability testing using as few as six markers for high-throughput clinical diagnostics.
Gallon R, Sheth H, Hayes C, Redford L, Alhilal G, O'Brien O, Spiewak H, Waltham A, McAnulty C, Izuogu OG, Arends MJ, Oniscu A, Alonso AM, Laguna SM, Borthwick GM, Santibanez-Koref M, Jackson MS, Burn J. Gallon R, et al. Hum Mutat. 2020 Jan;41(1):332-341. doi: 10.1002/humu.23906. Epub 2019 Sep 15. Hum Mutat. 2020. PMID: 31471937 Free PMC article.
Report of the fifth meeting of the European Consortium 'Care for CMMRD' (C4CMMRD), Leiden, The Netherlands, July 6th 2019.
Suerink M, Wimmer K, Brugieres L, Colas C, Gallon R, Ripperger T, Benusiglio PR, Bleiker EMA, Ghorbanoghli Z, Goldberg Y, Hardwick JCH, Kloor M, le Mentec M, Muleris M, Pineda M, Ruiz-Ponte C, Vasen HFA. Suerink M, et al. Among authors: gallon r. Fam Cancer. 2021 Jan;20(1):67-73. doi: 10.1007/s10689-020-00194-1. Epub 2020 Jul 2. Fam Cancer. 2021. PMID: 32613597 Free PMC article. No abstract available.
Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1.
Perez-Valencia JA, Gallon R, Chen Y, Koch J, Keller M, Oberhuber K, Gomes A, Zschocke J, Burn J, Jackson MS, Santibanez-Koref M, Messiaen L, Wimmer K. Perez-Valencia JA, et al. Among authors: gallon r. Genet Med. 2020 Dec;22(12):2081-2088. doi: 10.1038/s41436-020-0925-z. Epub 2020 Aug 10. Genet Med. 2020. PMID: 32773772 Free PMC article.
Detection of constitutional mismatch repair deficiency in children and adolescents with acute lymphoblastic leukemia.
Gallon R, Phelps R, Betts L, Hayes C, Masic D, Irving JAE, McAnulty C, Saha V, Vora A, Wimmer K, Motwani J, Macartney C, Burn J, Jackson MS, Moorman AV, Santibanez-Koref M. Gallon R, et al. Leuk Lymphoma. 2023 Jan;64(1):217-220. doi: 10.1080/10428194.2022.2131412. Epub 2022 Oct 22. Leuk Lymphoma. 2023. PMID: 36272172 No abstract available.
Teenage-Onset Colorectal Cancers in a Digenic Cancer Predisposition Syndrome Provide Clues for the Interaction between Mismatch Repair and Polymerase δ Proofreading Deficiency in Tumorigenesis.
Schamschula E, Kinzel M, Wernstedt A, Oberhuber K, Gottschling H, Schnaiter S, Friedrichs N, Merkelbach-Bruse S, Zschocke J, Gallon R, Wimmer K. Schamschula E, et al. Among authors: gallon r. Biomolecules. 2022 Sep 22;12(10):1350. doi: 10.3390/biom12101350. Biomolecules. 2022. PMID: 36291559 Free PMC article.
Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency.
Gallon R, Phelps R, Hayes C, Brugieres L, Guerrini-Rousseau L, Colas C, Muleris M, Ryan NAJ, Evans DG, Grice H, Jessop E, Kunzemann-Martinez A, Marshall L, Schamschula E, Oberhuber K, Azizi AA, Baris Feldman H, Beilken A, Brauer N, Brozou T, Dahan K, Demirsoy U, Florkin B, Foulkes W, Januszkiewicz-Lewandowska D, Jones KJ, Kratz CP, Lobitz S, Meade J, Nathrath M, Pander HJ, Perne C, Ragab I, Ripperger T, Rosenbaum T, Rueda D, Sarosiek T, Sehested A, Spier I, Suerink M, Zimmermann SY, Zschocke J, Borthwick GM, Wimmer K, Burn J, Jackson MS, Santibanez-Koref M. Gallon R, et al. Gastroenterology. 2023 Apr;164(4):579-592.e8. doi: 10.1053/j.gastro.2022.12.017. Epub 2022 Dec 29. Gastroenterology. 2023. PMID: 36586540 Free article.
Mismatch repair deficiency testing in Lynch syndrome-associated urothelial tumors.
Rasmussen M, Sowter P, Gallon R, Durhuus JA, Hayes C, Andersen O, Nilbert M, Schejbel L, Høgdall E, Santibanez-Koref M, Jackson MS, Burn J, Therkildsen C. Rasmussen M, et al. Among authors: gallon r. Front Oncol. 2023 Apr 18;13:1147591. doi: 10.3389/fonc.2023.1147591. eCollection 2023. Front Oncol. 2023. PMID: 37143941 Free PMC article.
31 results