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Infantile fibrosarcoma with TPM3-NTRK1 fusion in a boy with Bloom syndrome.
Huson SM, Staab T, Pereira M, Ward H, Paredes R, Evans DG, Baumhoer D, O'Sullivan J, Cheesman E, Schindler D, Meyer S. Huson SM, et al. Among authors: pereira m. Fam Cancer. 2022 Jan;21(1):85-90. doi: 10.1007/s10689-020-00221-1. Epub 2020 Nov 21. Fam Cancer. 2022. PMID: 33219493 Free PMC article.
Risk of Contralateral Breast Cancer in Women with and without Pathogenic Variants in BRCA1, BRCA2, and TP53 Genes in Women with Very Early-Onset (<36 Years) Breast Cancer.
Hyder Z, Harkness EF, Woodward ER, Bowers NL, Pereira M, Wallace AJ, Howell SJ, Howell A, Lalloo F, Newman WG, Smith MJ, Evans DG. Hyder Z, et al. Among authors: pereira m. Cancers (Basel). 2020 Feb 7;12(2):378. doi: 10.3390/cancers12020378. Cancers (Basel). 2020. PMID: 32045981 Free PMC article.
High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer.
Evans DG, van Veen EM, Byers HJ, Evans SJ, Burghel GJ, Woodward ER, Harkness EF, Eccles DM, Greville-Haygate SL, Ellingford JM, Bowers NL, Pereira M, Wallace AJ, Howell SJ, Howell A, Lalloo F, Newman WG, Smith MJ. Evans DG, et al. Among authors: pereira m. J Med Genet. 2022 Feb;59(2):115-121. doi: 10.1136/jmedgenet-2020-107347. Epub 2021 Mar 23. J Med Genet. 2022. PMID: 33758026 Free PMC article.
A challenging case of sporadic melanocytoma of the jugular foramen.
Donofrio CA, Roncaroli F, Riccio L, Pereira M, O'Sullivan J, Mayers H, Potter GM, Djoukhadar I, Rutherford SA. Donofrio CA, et al. Among authors: pereira m. Neurochirurgie. 2022 Jul;68(4):453-457. doi: 10.1016/j.neuchi.2021.06.001. Epub 2021 Jun 19. Neurochirurgie. 2022. PMID: 34157339
EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders.
Lenassi E, Carvalho A, Thormann A, Abrahams L, Arno G, Fletcher T, Hardcastle C, Lopez J, Hunt SE, Short P, Sergouniotis PI, Michaelides M, Webster A, Cunningham F, Ramsden SC, Kasperaviciute D, Fitzpatrick DR; Genomics England Research Consortium; Black GC, Ellingford JM. Lenassi E, et al. J Med Genet. 2023 Aug;60(8):810-818. doi: 10.1136/jmg-2022-108618. Epub 2023 Jan 20. J Med Genet. 2023. PMID: 36669873 Free PMC article.
Primary glomus tumour of the pituitary gland: diagnostic challenges of a rare and potentially aggressive neoplasm.
Quah BL, Donofrio CA, La Rosa S, Brouland JP, Cossu G, Djoukhadar I, Mayers H, Shenjere P, Pereira M, Pathmanaban ON, Murtaza MO, Gattamaneni R, Roncaroli F, Karabatsou K. Quah BL, et al. Among authors: pereira m. Virchows Arch. 2021 May;478(5):977-984. doi: 10.1007/s00428-020-02923-4. Epub 2020 Sep 12. Virchows Arch. 2021. PMID: 32918169 Free PMC article.
A novel likely pathogenic CLCN5 variant in Dent's disease.
Hayward S, Norton J, Bownass L, Platt C; Genomics England Research Consortium; Campbell H, Watson E, Forrester N, Smithson S, Menon A. Hayward S, et al. BMC Nephrol. 2023 Aug 28;24(1):256. doi: 10.1186/s12882-023-03292-1. BMC Nephrol. 2023. PMID: 37641036 Free PMC article.
6,446 results