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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: dumas k. 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.
Twin Mitochondrial Sequence Analysis.
Bouhlal Y, Martinez S, Gong H, Dumas K, Shieh JT. Bouhlal Y, et al. Among authors: dumas k. 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.
Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay.
Melo US, Bonner D, Kent Lloyd KC, Moshiri A, Willis B, Lanoue L, Bower L, Leonard BC, Martins DJ, Gomes F, de Souza Leite F, Oliveira D, Kitajima JP, Monteiro FP, Zatz M, Menck CFM, Wheeler MT, Bernstein JA, Dumas K, Spiteri E, Di Donato N, Jahn A, Hashem M, Alsaif HS, Chedrawi A, Alkuraya FS, Kok F, Byers HM. Melo US, et al. Among authors: dumas k. Genet Med. 2021 Apr;23(4):661-668. doi: 10.1038/s41436-020-01047-z. Epub 2021 Jan 8. Genet Med. 2021. PMID: 33420346 Free article.
A Case of Brodifacoum-Induced Epiglottitis.
Doyle WN Jr, Dumas K, Arnold JK. Doyle WN Jr, et al. Among authors: dumas k. Cureus. 2023 Oct 18;15(10):e47286. doi: 10.7759/cureus.47286. eCollection 2023 Oct. Cureus. 2023. PMID: 38021700 Free PMC article.
Impact of a Clinical Genomics Program on Trial Accrual for Targeted Treatments: Practical Approach Overcoming Barriers to Accrual for Underserved Patients.
Farhangfar CJ, Scarola GT, Morris VA, Farhangfar F, Dumas K, Symanowski J, Hwang JJ, Mileham KF, Carrizosa DR, Naumann RW, Livasy C, Kim ES, Raghavan D. Farhangfar CJ, et al. Among authors: dumas k. JCO Clin Cancer Inform. 2022 Jul;6:e2200011. doi: 10.1200/CCI.22.00011. JCO Clin Cancer Inform. 2022. PMID: 35839431
Anti-Müllerian hormone concentration regulates activin receptor-like kinase-2/3 expression levels with opposing effects on ovarian cancer cell survival.
Chauvin M, Garambois V, Choblet S, Colombo PE, Chentouf M, Gros L, De Brauwere DP, Duonor-Cerutti M, Dumas K, Robert B, Jarlier M, Martineau P, Navarro-Teulon I, Pépin D, Chardès T, Pèlegrin A. Chauvin M, et al. Among authors: dumas k. Int J Oncol. 2021 Jul;59(1):43. doi: 10.3892/ijo.2021.5223. Epub 2021 May 20. Int J Oncol. 2021. PMID: 34013359 Free PMC article.
60 results