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53 results

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Page 1
De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity.
Benkirane M, Bonhomme M, Morsy H, Safgren SL, Marelli C, Chaussenot A, Smedley D, Cipriani V, de Sainte-Agathe JM, Ding C, Larrieu L, Vestito L, Margot H, Lesca G, Ramond F, Castrioto A, Baux D, Verheijen J, Sansa E, Giunti P, Haetty A, Bergougnoux A, Pointaux M, Ardouin O, Van Goethem C, Vincent MC, Hadjivassiliou M, Cossée M, Rouaud T, Bartsch O, Freeman WD, Wierenga KJ, Klee EW; Genomic England Research Consortium; Vandrovcova J, Houlden H, Debant A, Koenig M. Benkirane M, et al. Among authors: van goethem c. Brain. 2024 Jun 17:awae193. doi: 10.1093/brain/awae193. Online ahead of print. Brain. 2024. PMID: 38884572
SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation.
de Sainte Agathe JM, Filser M, Isidor B, Besnard T, Gueguen P, Perrin A, Van Goethem C, Verebi C, Masingue M, Rendu J, Cossée M, Bergougnoux A, Frobert L, Buratti J, Lejeune É, Le Guern É, Pasquier F, Clot F, Kalatzis V, Roux AF, Cogné B, Baux D. de Sainte Agathe JM, et al. Among authors: van goethem c. Hum Genomics. 2023 Feb 10;17(1):7. doi: 10.1186/s40246-023-00451-1. Hum Genomics. 2023. PMID: 36765386 Free PMC article. Review.
Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosa.
Vaché C, Faugère V, Baux D, Mansard L, Van Goethem C, Dhaenens CM, Grunewald O, Audo I, Zeitz C, Meunier I, Bocquet B, Cossée M, Bergougnoux A, Kalatzis V, Roux AF. Vaché C, et al. Among authors: van goethem c. Eur J Hum Genet. 2024 Jul 5. doi: 10.1038/s41431-024-01649-0. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38969740
Titin copy number variations associated with dominant inherited phenotypes.
Perrin A, Métay C, Savarese M, Ben Yaou R, Demidov G, Nelson I, Solé G, Péréon Y, Bertini ES, Fattori F, D'Amico A, Ricci F, Ginsberg M, Seferian A, Boespflug-Tanguy O, Servais L, Chapon F, Lagrange E, Gaudon K, Bloch A, Ghanem R, Guyant-Maréchal L, Johari M, Van Goethem C, Fardeau M, Morales RJ, Genetti CA, Marttila M, Koenig M, Beggs AH, Udd B, Bonne G, Cossée M. Perrin A, et al. Among authors: van goethem c. J Med Genet. 2024 Mar 21;61(4):369-377. doi: 10.1136/jmg-2023-109473. J Med Genet. 2024. PMID: 37935568
Hot spots for clinical signs of disease activity in vitiligo.
Delbaere L, van Causenbroeck J, Duponselle J, Van Goethem C, Speeckaert R, van Geel N. Delbaere L, et al. Among authors: van goethem c. Exp Dermatol. 2024 Jan;33(1):e14975. doi: 10.1111/exd.14975. Epub 2023 Nov 17. Exp Dermatol. 2024. PMID: 37975576
53 results