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Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.
Balak C, Benard M, Schaefer E, Iqbal S, Ramsey K, Ernoult-Lange M, Mattioli F, Llaci L, Geoffroy V, Courel M, Naymik M, Bachman KK, Pfundt R, Rump P, Ter Beest J, Wentzensen IM, Monaghan KG, McWalter K, Richholt R, Le Béchec A, Jepsen W, De Both M, Belnap N, Boland A, Piras IS, Deleuze JF, Szelinger S, Dollfus H, Chelly J, Muller J, Campbell A, Lal D, Rangasamy S, Mandel JL, Narayanan V, Huentelman M, Weil D, Piton A. Balak C, et al. Among authors: le bechec a. Am J Hum Genet. 2019 Sep 5;105(3):509-525. doi: 10.1016/j.ajhg.2019.07.010. Epub 2019 Aug 15. Am J Hum Genet. 2019. PMID: 31422817 Free PMC article.
FAM111A mutations result in hypoparathyroidism and impaired skeletal development.
Unger S, Górna MW, Le Béchec A, Do Vale-Pereira S, Bedeschi MF, Geiberger S, Grigelioniene G, Horemuzova E, Lalatta F, Lausch E, Magnani C, Nampoothiri S, Nishimura G, Petrella D, Rojas-Ringeling F, Utsunomiya A, Zabel B, Pradervand S, Harshman K, Campos-Xavier B, Bonafé L, Superti-Furga G, Stevenson B, Superti-Furga A. Unger S, et al. Among authors: le bechec a. Am J Hum Genet. 2013 Jun 6;92(6):990-5. doi: 10.1016/j.ajhg.2013.04.020. Epub 2013 May 16. Am J Hum Genet. 2013. PMID: 23684011 Free PMC article.
MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type.
Bonafé L, Liang J, Gorna MW, Zhang Q, Ha-Vinh R, Campos-Xavier AB, Unger S, Beckmann JS, Le Béchec A, Stevenson B, Giedion A, Liu X, Superti-Furga G, Wang W, Spahr A, Superti-Furga A. Bonafé L, et al. Among authors: le bechec a. Am J Med Genet A. 2014 May;164A(5):1175-9. doi: 10.1002/ajmg.a.36431. Epub 2014 Mar 19. Am J Med Genet A. 2014. PMID: 24648384
TECRL, a new life-threatening inherited arrhythmia gene associated with overlapping clinical features of both LQTS and CPVT.
Devalla HD, Gélinas R, Aburawi EH, Beqqali A, Goyette P, Freund C, Chaix MA, Tadros R, Jiang H, Le Béchec A, Monshouwer-Kloots JJ, Zwetsloot T, Kosmidis G, Latour F, Alikashani A, Hoekstra M, Schlaepfer J, Mummery CL, Stevenson B, Kutalik Z, de Vries AA, Rivard L, Wilde AA, Talajic M, Verkerk AO, Al-Gazali L, Rioux JD, Bhuiyan ZA, Passier R. Devalla HD, et al. Among authors: le bechec a. EMBO Mol Med. 2016 Dec 1;8(12):1390-1408. doi: 10.15252/emmm.201505719. Print 2016 Dec. EMBO Mol Med. 2016. PMID: 27861123 Free PMC article.
The AnnotSV webserver in 2023: updated visualization and ranking.
Geoffroy V, Lamouche JB, Guignard T, Nicaise S, Kress A, Scheidecker S, Le Béchec A, Muller J. Geoffroy V, et al. Among authors: le bechec a. Nucleic Acids Res. 2023 Jul 5;51(W1):W39-W45. doi: 10.1093/nar/gkad426. Nucleic Acids Res. 2023. PMID: 37216590 Free PMC article.
Retraction: miR-661 expression in SNAI1-induced epithelial to mesenchymal transition contributes to breast cancer cell invasion by targeting Nectin-1 and StarD10 messengers.
Vetter G, Saumet A, Moes M, Vallar L, Le Béchec A, Laurini C, Sabbah M, Arar K, Theillet C, Lecellier CH, Friederich E. Vetter G, et al. Among authors: le bechec a. Oncogene. 2016 Feb 11;35(6):670. doi: 10.1038/onc.2015.265. Epub 2015 Dec 14. Oncogene. 2016. PMID: 32667144 Free PMC article.
16 results