Select Publications

Preprints

Walker R; Joo JE; Mahmood K; Clendenning M; Como J; Preston SG; Joseland S; Pope BJ; Medeiros ABD; Murillo BV; Pachter N; Sweet K; Spigelman AD; Groves A; Gleeson M; Bernatowicz K; Poplawski N; Andrews L; Healey E; Gallinger S; Grant RC; Win AK; Hopper JL; Jenkins MA; Torrezan GT; Rosty C; Macrae FA; Winship IM; Buchanan DD; Georgeson P, 2024, Adenomas from individuals with pathogenic biallelic variants in the MUTYH and NTHL1 genes demonstrate base excision repair tumour mutational signature profiles similar to colorectal cancers, expanding potential diagnostic and variant classification applications., http://dx.doi.org/10.1101/2024.08.08.24311713

Walker R; Mahmood K; Como J; Clendenning M; Joo JE; Georgeson P; Joseland S; Preston SG; Pope BJ; Chan JM; Austin R; Bojadzieva J; Campbell A; Edwards E; Gleeson M; Goodwin A; Harris MT; Ip E; Kirk J; Mansour J; Marfan H; Nichols C; Pachter N; Ragunathan A; Spigelman A; Susman R; Christie M; Jenkins MA; Pai RK; Rosty C; Macrae FA; Winship IM; Buchanan DD, 2023, DNA mismatch repair gene variant classification: evaluating the utility of somatic mutations and mismatch repair deficient colonic crypts and endometrial glands, http://dx.doi.org/10.1101/2023.09.26.23295173


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