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Page 1
CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis.
J Clin Invest. 2023 Apr 17;133(8):e161156. doi: 10.1172/JCI161156.
J Clin Invest. 2023.
PMID: 36862503
Free PMC article.
Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish.
Derrick CJ, Szenker-Ravi E, Santos-Ledo A, Alqahtani A, Yusof A, Eley L, Coleman AHL, Tohari S, Ng AY, Venkatesh B, Alharby E, Mansard L, Bonnet-Dupeyron MN, Roux AF, Vaché C, Roume J, Bouvagnet P, Almontashiri NAM, Henderson DJ, Reversade B, Chaudhry B.
Derrick CJ, et al. Among authors: mansard l.
Hum Mol Genet. 2024 Jan 7;33(2):150-169. doi: 10.1093/hmg/ddad171.
Hum Mol Genet. 2024.
PMID: 37815931
Free PMC article.
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SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect.
McNeill A, Iovino E, Mansard L, Vache C, Baux D, Bedoukian E, Cox H, Dean J, Goudie D, Kumar A, Newbury-Ecob R, Fallerini C, Renieri A, Lopergolo D, Mari F, Blanchet C, Willems M, Roux AF, Pippucci T, Delpire E.
McNeill A, et al. Among authors: mansard l.
Brain. 2020 Aug 1;143(8):2380-2387. doi: 10.1093/brain/awaa176.
Brain. 2020.
PMID: 32658972
Free PMC article.
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Identification of the First Single GSDME Exon 8 Structural Variants Associated with Autosomal Dominant Hearing Loss.
Mansard L, Vaché C, Bianchi J, Baudoin C, Perthus I, Isidor B, Blanchet C, Baux D, Koenig M, Kalatzis V, Roux AF.
Mansard L, et al.
Diagnostics (Basel). 2022 Jan 15;12(1):207. doi: 10.3390/diagnostics12010207.
Diagnostics (Basel). 2022.
PMID: 35054374
Free PMC article.
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When Familial Hearing Loss Means Genetic Heterogeneity: A Model Case Report.
Cenni C, Mansard L, Blanchet C, Baux D, Vaché C, Baudoin C, Moclyn M, Faugère V, Mondain M, Jeziorski E, Roux AF, Willems M.
Cenni C, et al. Among authors: mansard l.
Diagnostics (Basel). 2021 Sep 7;11(9):1636. doi: 10.3390/diagnostics11091636.
Diagnostics (Basel). 2021.
PMID: 34573976
Free PMC article.
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Identification and in vivo functional investigation of a HOMER2 nonstop variant causing hearing loss.
Vaché C, Cubedo N, Mansard L, Sarniguet J, Baux D, Faugère V, Baudoin C, Moclyn M, Touraine R, Lina-Granade G, Cossée M, Bergougnoux A, Kalatzis V, Rossel M, Roux AF.
Vaché C, et al. Among authors: mansard l.
Eur J Hum Genet. 2023 Jul;31(7):834-840. doi: 10.1038/s41431-023-01374-0. Epub 2023 May 12.
Eur J Hum Genet. 2023.
PMID: 37173411
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The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A.
Mansard L, Baux D, Vaché C, Blanchet C, Meunier I, Willems M, Faugère V, Baudoin C, Moclyn M, Bianchi J, Dollfus H, Gilbert-Dussardier B, Dupin-Deguine D, Bonneau D, Drumare I, Odent S, Zanlonghi X, Claustres M, Koenig M, Kalatzis V, Roux AF.
Mansard L, et al.
Int J Mol Sci. 2021 Dec 10;22(24):13294. doi: 10.3390/ijms222413294.
Int J Mol Sci. 2021.
PMID: 34948090
Free PMC article.
Clinical Trial.
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