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Identification and in vivo functional investigation of a HOMER2 nonstop variant causing hearing loss.
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
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. Among authors: moclyn m.
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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Assessment of the latest NGS enrichment capture methods in clinical context.
García-García G, Baux D, Faugère V, Moclyn M, Koenig M, Claustres M, Roux AF.
García-García G, et al. Among authors: moclyn m.
Sci Rep. 2016 Feb 11;6:20948. doi: 10.1038/srep20948.
Sci Rep. 2016.
PMID: 26864517
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: moclyn m.
Diagnostics (Basel). 2021 Sep 7;11(9):1636. doi: 10.3390/diagnostics11091636.
Diagnostics (Basel). 2021.
PMID: 34573976
Free PMC article.
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Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients.
Baux D, Vaché C, Blanchet C, Willems M, Baudoin C, Moclyn M, Faugère V, Touraine R, Isidor B, Dupin-Deguine D, Nizon M, Vincent M, Mercier S, Calais C, García-García G, Azher Z, Lambert L, Perdomo-Trujillo Y, Giuliano F, Claustres M, Koenig M, Mondain M, Roux AF.
Baux D, et al. Among authors: moclyn m.
Sci Rep. 2017 Dec 1;7(1):16783. doi: 10.1038/s41598-017-16846-9.
Sci Rep. 2017.
PMID: 29196752
Free PMC article.
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