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Activating NRF1-BRAF and ATG7-RAF1 fusions in anaplastic pleomorphic xanthoastrocytoma without BRAF p.V600E mutation.
Phillips JJ, Gong H, Chen K, Joseph NM, van Ziffle J, Jin LW, Bastian BC, Bollen AW, Perry A, Nicolaides T, Solomon DA, Shieh JT. Phillips JJ, et al. Among authors: shieh jt. Acta Neuropathol. 2016 Nov;132(5):757-760. doi: 10.1007/s00401-016-1616-3. Epub 2016 Sep 13. Acta Neuropathol. 2016. PMID: 27624885 Free PMC article. No abstract available.
Twin Mitochondrial Sequence Analysis.
Bouhlal Y, Martinez S, Gong H, Dumas K, Shieh JT. Bouhlal Y, et al. Among authors: shieh jt. Mol Genet Genomic Med. 2013 Sep 1;1(3):174-186. doi: 10.1002/mgg3.20. Mol Genet Genomic Med. 2013. PMID: 24040623 Free PMC article.
Familial melanoma-astrocytoma syndrome: synchronous diffuse astrocytoma and pleomorphic xanthoastrocytoma in a patient with germline CDKN2A/B deletion and a significant family history.
Chan AK, Han SJ, Choy W, Beleford D, Aghi MK, Berger MS, Shieh JT, Bollen AW, Perry A, Phillips JJ, Butowski N, Solomon DA. Chan AK, et al. Among authors: shieh jt. Clin Neuropathol. 2017 Sep/Oct;36(5):213-221. doi: 10.5414/NP301022. Clin Neuropathol. 2017. PMID: 28699883 Free PMC article.
Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation.
Ge X, Gong H, Dumas K, Litwin J, Phillips JJ, Waisfisz Q, Weiss MM, Hendriks Y, Stuurman KE, Nelson SF, Grody WW, Lee H, Kwok PY, Shieh JT. Ge X, et al. Among authors: shieh jt. NPJ Genom Med. 2016;1:16036-. doi: 10.1038/npjgenmed.2016.36. Epub 2016 Oct 5. NPJ Genom Med. 2016. PMID: 28868155 Free PMC article.
The genetic landscape of anaplastic pleomorphic xanthoastrocytoma.
Phillips JJ, Gong H, Chen K, Joseph NM, van Ziffle J, Bastian BC, Grenert JP, Kline CN, Mueller S, Banerjee A, Nicolaides T, Gupta N, Berger MS, Lee HS, Pekmezci M, Tihan T, Bollen AW, Perry A, Shieh JTC, Solomon DA. Phillips JJ, et al. Brain Pathol. 2019 Jan;29(1):85-96. doi: 10.1111/bpa.12639. Epub 2018 Nov 6. Brain Pathol. 2019. PMID: 30051528 Free PMC article.
Mechanisms of Resistance to EGFR Inhibition Reveal Metabolic Vulnerabilities in Human GBM.
McKinney A, Lindberg OR, Engler JR, Chen KY, Kumar A, Gong H, Lu KV, Simonds EF, Cloughesy TF, Liau LM, Prados M, Bollen AW, Berger MS, Shieh JTC, James CD, Nicolaides TP, Yong WH, Lai A, Hegi ME, Weiss WA, Phillips JJ. McKinney A, et al. Mol Cancer Ther. 2019 Sep;18(9):1565-1576. doi: 10.1158/1535-7163.MCT-18-1330. Epub 2019 Jul 3. Mol Cancer Ther. 2019. PMID: 31270152 Free PMC article.
A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy.
Mendelsohn BA, Beleford DT, Abu-El-Haija A, Alsaleh NS, Rahbeeni Z, Martin PM, Rego S, Huang A, Capodanno G, Shieh JT, Van Ziffle J, Risch N, Alkuraya FS, Slavotinek AM. Mendelsohn BA, et al. Among authors: shieh jt. Am J Med Genet A. 2020 Mar;182(3):513-520. doi: 10.1002/ajmg.a.61450. Epub 2019 Dec 27. Am J Med Genet A. 2020. PMID: 31880405 Free PMC article.
94 results