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Page 1
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.
Luscan R, Mechaussier S, Paul A, Tian G, Gérard X, Defoort-Dellhemmes S, Loundon N, Audo I, Bonnin S, LeGargasson JF, Dumont J, Goudin N, Garfa-Traoré M, Bras M, Pouliet A, Bessières B, Boddaert N, Sahel JA, Lyonnet S, Kaplan J, Cowan NJ, Rozet JM, Marlin S, Perrault I. Luscan R, et al. Among authors: gerard x. Am J Hum Genet. 2017 Dec 7;101(6):1006-1012. doi: 10.1016/j.ajhg.2017.10.010. Epub 2017 Nov 30. Am J Hum Genet. 2017. PMID: 29198720 Free PMC article.
ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.
Fares-Taie L, Gerber S, Chassaing N, Clayton-Smith J, Hanein S, Silva E, Serey M, Serre V, Gérard X, Baumann C, Plessis G, Demeer B, Brétillon L, Bole C, Nitschke P, Munnich A, Lyonnet S, Calvas P, Kaplan J, Ragge N, Rozet JM. Fares-Taie L, et al. Among authors: gerard x. Am J Hum Genet. 2013 Feb 7;92(2):265-70. doi: 10.1016/j.ajhg.2012.12.003. Epub 2013 Jan 9. Am J Hum Genet. 2013. PMID: 23312594 Free PMC article.
YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations.
Diaz J, Gérard X, Emerit MB, Areias J, Geny D, Dégardin J, Simonutti M, Guerquin MJ, Collin T, Viollet C, Billard JM, Métin C, Hubert L, Larti F, Kahrizi K, Jobling R, Agolini E, Shaheen R, Zigler A, Rouiller-Fabre V, Rozet JM, Picaud S, Novelli A, Alameer S, Najmabadi H, Cohn R, Munnich A, Barth M, Lugli L, Alkuraya FS, Blaser S, Gashlan M, Besmond C, Darmon M, Masson J. Diaz J, et al. Among authors: gerard x. Brain. 2020 Oct 1;143(10):2911-2928. doi: 10.1093/brain/awaa235. Brain. 2020. PMID: 33103737
A novel recurrent LIS1 splice site mutation in classic lissencephaly.
Philbert M, Maillard C, Cavallin M, Goldenberg A, Masson C, Boddaert N, El Morjani A, Steffann J, Chelly J, Gerard X, Bahi-Buisson N. Philbert M, et al. Among authors: gerard x. Am J Med Genet A. 2017 Feb;173(2):561-564. doi: 10.1002/ajmg.a.38041. Epub 2016 Nov 27. Am J Med Genet A. 2017. PMID: 27891766 No abstract available.
Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic RPGRIP1 Pathologic Variant in the French Leber Congenital Amaurosis Cohort.
Perrault I, Hanein S, Gérard X, Mounguengue N, Bouyakoub R, Zarhrate M, Fourrage C, Jabot-Hanin F, Bocquet B, Meunier I, Zanlonghi X, Kaplan J, Rozet JM. Perrault I, et al. Among authors: gerard x. Genes (Basel). 2021 Feb 18;12(2):287. doi: 10.3390/genes12020287. Genes (Basel). 2021. PMID: 33670832 Free PMC article.
Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness.
Perrault I, Hamdan FF, Rio M, Capo-Chichi JM, Boddaert N, Décarie JC, Maranda B, Nabbout R, Sylvain M, Lortie A, Roux PP, Rossignol E, Gérard X, Barcia G, Berquin P, Munnich A, Rouleau GA, Kaplan J, Rozet JM, Michaud JL. Perrault I, et al. Among authors: gerard x. Am J Hum Genet. 2014 Jun 5;94(6):891-7. doi: 10.1016/j.ajhg.2014.04.012. Epub 2014 May 8. Am J Hum Genet. 2014. PMID: 24814191 Free PMC article.
Enhancer of Zeste Homolog 2 (EZH2) Contributes to Rod Photoreceptor Death Process in Several Forms of Retinal Degeneration and Its Activity Can Serve as a Biomarker for Therapy Efficacy.
Mbefo M, Berger A, Schouwey K, Gérard X, Kostic C, Beryozkin A, Sharon D, Dolfuss H, Munier F, Tran HV, van Lohuizen M, Beltran WA, Arsenijevic Y. Mbefo M, et al. Among authors: gerard x. Int J Mol Sci. 2021 Aug 28;22(17):9331. doi: 10.3390/ijms22179331. Int J Mol Sci. 2021. PMID: 34502238 Free PMC article.
18 results