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A novel bioinformatic approach reveals cooperation between Cancer/Testis genes in basal-like breast tumors.
Laisné M, Rodgers B, Benlamara S, Wicinski J, Nicolas A, Djerroudi L, Gupta N, Ferry L, Kirsh O, Daher D, Philippe C, Okada Y, Charafe-Jauffret E, Cristofari G, Meseure D, Vincent-Salomon A, Ginestier C, Defossez PA. Laisné M, et al. Among authors: philippe c. Oncogene. 2024 May;43(18):1369-1385. doi: 10.1038/s41388-024-03002-7. Epub 2024 Mar 11. Oncogene. 2024. PMID: 38467851 Free PMC article.
The E592K variant of SF3B1 creates unique RNA missplicing and associates with high-risk MDS without ring sideroblasts.
Choi IY, Ling JP, Zhang J, Helmenstine E, Walter W, Tsakiroglou P, Bergman RE, Philippe C, Manley JL, Rouault-Pierre K, Li B, Wiseman DH, Batta K, Ouseph MM, Bernard E, Dubner B, Li X, Haferlach T, Koget A, Fazal S, Jain T, Gocke CD, DeZern AE, Dalton WB. Choi IY, et al. Among authors: philippe c. Blood Adv. 2024 May 17:bloodadvances.2023011260. doi: 10.1182/bloodadvances.2023011260. Online ahead of print. Blood Adv. 2024. PMID: 38759096
Lamentations in the night: A systematic review on catathrenia.
Martel Q, Maranci JB, Philippe C, Arnulf I. Martel Q, et al. Among authors: philippe c. Sleep Med Rev. 2024 May 6;75:101944. doi: 10.1016/j.smrv.2024.101944. Online ahead of print. Sleep Med Rev. 2024. PMID: 38718707 Review.
Patient with a heterozygous pathogenic variant in CSNK2A1 gene: A new case to update the Okur-Chung neurodevelopmental syndrome.
Blanc A, Bonnet C, Wandzel M, Roth V, Duffourd Y, Safraou H, Leheup B, Muller F, D Colne J, Feillet F, Schmitt E, Castro M, Savatt J, Burcheri A, Nemos C, Philippe C, Lambert L. Blanc A, et al. Among authors: philippe c. Am J Med Genet A. 2024 May 6:e63642. doi: 10.1002/ajmg.a.63642. Online ahead of print. Am J Med Genet A. 2024. PMID: 38711237
DISP1 deficiency: monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations.
Lavillaureix A, Rollier P, Kim A, Panasenkava V, De Tayrac M, Carré W, Guyodo H, Faoucher M, Poirel E, Akloul L, Quelin C, Whalen S, Bos J, Broekema M, van Hagen JM, Grand K, Allen-Sharpley M, Magness E, McLean S, Kayserili H, Altunoglu U, En Qi Chong A, Xue S, Jeanne M, Almontashiri N, Habhab W, Vanlerberghe C, Faivre L, Viora Dupont E, Philippe C, Safraou H, Laffargue F, Mittendorf L, Abou Jamra R, Patil SJ, Dalal A, Sarma AS, Keren B, Reversade B, Dubourg C, Odent S, Dupé V. Lavillaureix A, et al. Among authors: philippe c. Genet Med. 2024 Mar 23:101126. doi: 10.1016/j.gim.2024.101126. Online ahead of print. Genet Med. 2024. PMID: 38529886 Free article.
547 results