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Genome-wide analysis of gene dosage in 24,092 individuals estimates that 10,000 genes modulate cognitive ability.
Huguet G, Schramm C, Douard E, Tamer P, Main A, Monin P, England J, Jizi K, Renne T, Poirier M, Nowak S, Martin CO, Younis N, Knoth IS, Jean-Louis M, Saci Z, Auger M, Tihy F, Mathonnet G, Maftei C, Léveillé F, Porteous D, Davies G, Redmond P, Harris SE, Hill WD, Lemyre E, Schumann G, Bourgeron T, Pausova Z, Paus T, Karama S, Lippe S, Deary IJ, Almasy L, Labbe A, Glahn D, Greenwood CMT, Jacquemont S. Huguet G, et al. Among authors: tihy f. Mol Psychiatry. 2021 Jun;26(6):2663-2676. doi: 10.1038/s41380-020-00985-z. Epub 2021 Jan 7. Mol Psychiatry. 2021. PMID: 33414497 Free PMC article.
CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems.
Chénier S, Yoon G, Argiropoulos B, Lauzon J, Laframboise R, Ahn JW, Ogilvie CM, Lionel AC, Marshall CR, Vaags AK, Hashemi B, Boisvert K, Mathonnet G, Tihy F, So J, Scherer SW, Lemyre E, Stavropoulos DJ. Chénier S, et al. Among authors: tihy f. J Neurodev Disord. 2014;6(1):9. doi: 10.1186/1866-1955-6-9. Epub 2014 Apr 22. J Neurodev Disord. 2014. PMID: 24834135 Free PMC article.
Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay.
Uddin M, Pellecchia G, Thiruvahindrapuram B, D'Abate L, Merico D, Chan A, Zarrei M, Tammimies K, Walker S, Gazzellone MJ, Nalpathamkalam T, Yuen RK, Devriendt K, Mathonnet G, Lemyre E, Nizard S, Shago M, Joseph-George AM, Noor A, Carter MT, Yoon G, Kannu P, Tihy F, Thorland EC, Marshall CR, Buchanan JA, Speevak M, Stavropoulos DJ, Scherer SW. Uddin M, et al. Among authors: tihy f. Sci Rep. 2016 Jul 1;6:28663. doi: 10.1038/srep28663. Sci Rep. 2016. PMID: 27363808 Free PMC article.
NUP98-BPTF gene fusion identified in primary refractory acute megakaryoblastic leukemia of infancy.
Roussy M, Bilodeau M, Jouan L, Tibout P, Laramée L, Lemyre E, Léveillé F, Tihy F, Cardin S, Sauvageau C, Couture F, Louis I, Choblet A, Patey N, Gendron P, Duval M, Teira P, Hébert J, Wilhelm BT, Choi JK, Gruber TA, Bittencourt H, Cellot S. Roussy M, et al. Among authors: tihy f. Genes Chromosomes Cancer. 2018 Jun;57(6):311-319. doi: 10.1002/gcc.22532. Epub 2018 Mar 28. Genes Chromosomes Cancer. 2018. PMID: 29427526
28 results