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Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly.
Kim A, Savary C, Dubourg C, Carré W, Mouden C, Hamdi-Rozé H, Guyodo H, Douce JL; FREX Consortium; GoNL Consortium; Pasquier L, Flori E, Gonzales M, Bénéteau C, Boute O, Attié-Bitach T, Roume J, Goujon L, Akloul L, Odent S, Watrin E, Dupé V, de Tayrac M, David V. Kim A, et al. Brain. 2019 Jan 1;142(1):35-49. doi: 10.1093/brain/awy290. Brain. 2019. PMID: 30508070 Free article.
Recent advances in understanding inheritance of holoprosencephaly.
Dubourg C, Kim A, Watrin E, de Tayrac M, Odent S, David V, Dupé V. Dubourg C, et al. Among authors: kim a. Am J Med Genet C Semin Med Genet. 2018 Jun;178(2):258-269. doi: 10.1002/ajmg.c.31619. Epub 2018 May 22. Am J Med Genet C Semin Med Genet. 2018. PMID: 29785796 Free article. Review.
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: kim a. Genet Med. 2024 Mar 23:101126. doi: 10.1016/j.gim.2024.101126. Online ahead of print. Genet Med. 2024. PMID: 38529886 Free article.
A phase 1/2 study of disulfiram and copper with concurrent radiation therapy and temozolomide for patients with newly diagnosed glioblastoma.
Huang J, Campian JL, DeWees TA, Skrott Z, Mistrik M, Johanns TM, Ansstas G, Butt O, Leuthardt E, Dunn GP, Zipfel GJ, Osbun JW, Abraham C, Badiyan S, Schwetye K, Cairncross JG, Rubin JB, Kim AH, Chheda MG. Huang J, et al. Among authors: kim ah. Int J Radiat Oncol Biol Phys. 2024 May 18:S0360-3016(24)00660-6. doi: 10.1016/j.ijrobp.2024.05.009. Online ahead of print. Int J Radiat Oncol Biol Phys. 2024. PMID: 38768767
7,188 results