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Recurrent posterior fossa group A (PFA) ependymoma in a young child with constitutional mismatch repair deficiency (CMMRD).
Briggs M, Das A, Firth H, Levine A, Sánchez-Ramírez S, Negm L, Ercan AB, Chung J, Bianchi V, Jalloh I, Phyu P, Thorp N, Grundy RG, Hawkins C, Trotman J, Tarpey P, Tabori U, Allinson K, Murray MJ; Genomics England Research Consortium. Briggs M, et al. Neuropathol Appl Neurobiol. 2023 Feb;49(1):e12862. doi: 10.1111/nan.12862. Epub 2022 Nov 18. Neuropathol Appl Neurobiol. 2023. PMID: 36341503 Free PMC article. No abstract available.
New insights into germ cell tumor genomics.
Lafin JT, Bagrodia A, Woldu S, Amatruda JF. Lafin JT, et al. Andrology. 2019 Jul;7(4):507-515. doi: 10.1111/andr.12616. Epub 2019 Mar 21. Andrology. 2019. PMID: 30896089 Free article. Review.
Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations.
Grand K, Gonzalez-Gandolfi C, Ackermann AM, Aljeaid D, Bedoukian E, Bird LM, De Leon DD, Diaz J, Hopkin RJ, Kadakia SP, Keena B, Klein KO, Krantz I, Leon E, Lord K, McDougall C, Medne L, Skraban CM, Stanley CA, Tarpinian J, Zackai E, Deardorff MA, Kalish JM. Grand K, et al. Am J Med Genet A. 2019 Apr;179(4):542-551. doi: 10.1002/ajmg.a.61062. Epub 2019 Feb 4. Am J Med Genet A. 2019. PMID: 30719864 Free PMC article.