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An optimized protocol for evaluating pathogenicity of VHL germline variants in patients suspected with von Hippel-Lindau syndrome: Using somatic genome to inform the role of germline variants.
Koeller DR, Manning DK, Schwartz A, Chittenden A, Hayes CP, Abraamyan F, Rana HQ, Lindeman NI, Garber JE, Ghazani AA. Koeller DR, et al. Among authors: chittenden a. MethodsX. 2022 Jun 18;9:101761. doi: 10.1016/j.mex.2022.101761. eCollection 2022. MethodsX. 2022. PMID: 35774415 Free PMC article.
An integrated somatic and germline approach to aid interpretation of germline variants of uncertain significance in cancer susceptibility genes.
Schwartz A, Manning DK, Koeller DR, Chittenden A, Isidro RA, Hayes CP, Abraamyan F, Manam MD, Dwan M, Barletta JA, Sholl LM, Yurgelun MB, Rana HQ, Garber JE, Ghazani AA. Schwartz A, et al. Among authors: chittenden a. Front Oncol. 2022 Aug 25;12:942741. doi: 10.3389/fonc.2022.942741. eCollection 2022. Front Oncol. 2022. PMID: 36091175 Free PMC article.
Development and evaluation of INT2GRATE: a platform for comprehensive assessment of the role of germline variants informed by tumor signature profile in Lynch syndrome.
Isidro RA, Chittenden A, Walker M, Schwartz A, Koeller DR, Hayes CP, Unal B, Manam MD, Buehler RM, Manning DK, Sholl LM, Redston MS, Yurgelun MB, Rana HQ, Garber JE, Ghazani AA. Isidro RA, et al. Among authors: chittenden a. Front Oncol. 2024 Jan 24;13:1284690. doi: 10.3389/fonc.2023.1284690. eCollection 2023. Front Oncol. 2024. PMID: 38344144 Free PMC article.
35 results