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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. 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.
Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis.
Smith MJ, Isidor B, Beetz C, Williams SG, Bhaskar SS, Richer W, O'Sullivan J, Anderson B, Daly SB, Urquhart JE, Fryer A, Rustad CF, Mills SJ, Samii A, du Plessis D, Halliday D, Barbarot S, Bourdeaut F, Newman WG, Evans DG. Smith MJ, et al. Neurology. 2015 Jan 13;84(2):141-7. doi: 10.1212/WNL.0000000000001129. Epub 2014 Dec 5. Neurology. 2015. PMID: 25480913 Free PMC article.
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.
Anderson BH, Kasher PR, Mayer J, Szynkiewicz M, Jenkinson EM, Bhaskar SS, Urquhart JE, Daly SB, Dickerson JE, O'Sullivan J, Leibundgut EO, Muter J, Abdel-Salem GM, Babul-Hirji R, Baxter P, Berger A, Bonafé L, Brunstom-Hernandez JE, Buckard JA, Chitayat D, Chong WK, Cordelli DM, Ferreira P, Fluss J, Forrest EH, Franzoni E, Garone C, Hammans SR, Houge G, Hughes I, Jacquemont S, Jeannet PY, Jefferson RJ, Kumar R, Kutschke G, Lundberg S, Lourenço CM, Mehta R, Naidu S, Nischal KK, Nunes L, Ounap K, Philippart M, Prabhakar P, Risen SR, Schiffmann R, Soh C, Stephenson JB, Stewart H, Stone J, Tolmie JL, van der Knaap MS, Vieira JP, Vilain CN, Wakeling EL, Wermenbol V, Whitney A, Lovell SC, Meyer S, Livingston JH, Baerlocher GM, Black GC, Rice GI, Crow YJ. Anderson BH, et al. Nat Genet. 2012 Jan 22;44(3):338-42. doi: 10.1038/ng.1084. Nat Genet. 2012. PMID: 22267198 Free article.
Lack of caveolin-1 (P132L) somatic mutations in breast cancer.
Ferraldeschi R, Latif A, Clarke RB, Spence K, Ashton G, O'Sullivan J, Evans DG, Howell A, Newman WG. Ferraldeschi R, et al. Breast Cancer Res Treat. 2012 Apr;132(3):1185-6. doi: 10.1007/s10549-012-1981-0. Epub 2012 Feb 7. Breast Cancer Res Treat. 2012. PMID: 22310961 No abstract available.
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. Neurochirurgie. 2022 Jul;68(4):453-457. doi: 10.1016/j.neuchi.2021.06.001. Epub 2021 Jun 19. Neurochirurgie. 2022. PMID: 34157339
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.
Ellingford JM, Barton S, Bhaskar S, Williams SG, Sergouniotis PI, O'Sullivan J, Lamb JA, Perveen R, Hall G, Newman WG, Bishop PN, Roberts SA, Leach R, Tearle R, Bayliss S, Ramsden SC, Nemeth AH, Black GC. Ellingford JM, et al. Ophthalmology. 2016 May;123(5):1143-50. doi: 10.1016/j.ophtha.2016.01.009. Epub 2016 Feb 9. Ophthalmology. 2016. PMID: 26872967 Free PMC article.
1,811 results