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Correction: MobiDetails: online DNA variants interpretation.
Baux D, Van Goethem C, Ardouin O, Guignard T, Bergougnoux A, Koenig M, Roux AF. Baux D, et al. Among authors: guignard t. Eur J Hum Genet. 2021 Feb;29(2):361. doi: 10.1038/s41431-020-00789-3. Eur J Hum Genet. 2021. PMID: 33303978 Free PMC article. No abstract available.
MoBiDiC Prioritization Algorithm, a Free, Accessible, and Efficient Pipeline for Single-Nucleotide Variant Annotation and Prioritization for Next-Generation Sequencing Routine Molecular Diagnosis.
Yauy K, Baux D, Pegeot H, Van Goethem C, Mathieu C, Guignard T, Juntas Morales R, Lacourt D, Krahn M, Lehtokari VL, Bonne G, Tuffery-Giraud S, Koenig M, Cossée M. Yauy K, et al. Among authors: guignard t. J Mol Diagn. 2018 Jul;20(4):465-473. doi: 10.1016/j.jmoldx.2018.03.009. Epub 2018 Apr 22. J Mol Diagn. 2018. PMID: 29689380 Free article.
Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders group.
Lemattre C, Imbert-Bouteille M, Gatinois V, Benit P, Sanchez E, Guignard T, Tran Mau-Them F, Haquet E, Rivier F, Carme E, Roubertie A, Boland A, Lechner D, Meyer V, Thevenon J, Duffourd Y, Rivière JB, Deleuze JF, Wells C, Molinari F, Rustin P, Blanchet P, Geneviève D. Lemattre C, et al. Among authors: guignard t. Eur J Hum Genet. 2019 Nov;27(11):1692-1700. doi: 10.1038/s41431-019-0433-2. Epub 2019 Jul 8. Eur J Hum Genet. 2019. PMID: 31285529 Free PMC article.
MobiDetails: online DNA variants interpretation.
Baux D, Van Goethem C, Ardouin O, Guignard T, Bergougnoux A, Koenig M, Roux AF. Baux D, et al. Among authors: guignard t. Eur J Hum Genet. 2021 Feb;29(2):356-360. doi: 10.1038/s41431-020-00755-z. Epub 2020 Nov 7. Eur J Hum Genet. 2021. PMID: 33161418 Free PMC article.
Long-Reads Sequencing Strategy to Localize Variants in TTN Repeated Domains.
Perrin A, Van Goethem C, Thèze C, Puechberty J, Guignard T, Lecardonnel B, Lacourt D, Métay C, Isapof A, Whalen S, Ferreiro A, Arne-Bes MC, Quijano-Roy S, Nectoux J, Leturcq F, Richard P, Larrieux M, Bergougnoux A, Pellestor F, Koenig M, Cossée M. Perrin A, et al. Among authors: guignard t. J Mol Diagn. 2022 Jul;24(7):719-726. doi: 10.1016/j.jmoldx.2022.04.006. Epub 2022 May 14. J Mol Diagn. 2022. PMID: 35580751 Free article.
Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital's perspective.
Wells CF, Boursier G, Yauy K, Ruiz-Pallares N, Mechin D, Ruault V, Tharreau M, Blanchet P, Pinson L, Coubes C, Fila M, Baleine J, Pidoux O, Badr M, Milesi C, Cambonie G, Mesnage R, Dereure M, Ardouin O, Guignard T, Geneviève D, Barat-Houari M, Willems M. Wells CF, et al. Among authors: guignard t. Eur J Hum Genet. 2022 Sep;30(9):1076-1082. doi: 10.1038/s41431-022-01133-7. Epub 2022 Jun 22. Eur J Hum Genet. 2022. PMID: 35729264 Free PMC article.
LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters.
Imbert-Bouteille M, Mau Them FT, Thevenon J, Guignard T, Gatinois V, Riviere JB, Boland A, Meyer V, Deleuze JF, Sanchez E, Apparailly F, Geneviève D, Willems M. Imbert-Bouteille M, et al. Among authors: guignard t. Eur J Med Genet. 2019 Mar;62(3):161-166. doi: 10.1016/j.ejmg.2018.07.003. Epub 2018 Jul 10. Eur J Med Genet. 2019. PMID: 30006060
A novel duplication of PRMD13 causes North Carolina macular dystrophy: overexpression of PRDM13 orthologue in drosophila eye reproduces the human phenotype.
Manes G, Joly W, Guignard T, Smirnov V, Berthemy S, Bocquet B, Audo I, Zeitz C, Sahel J, Cazevieille C, Sénéchal A, Deleuze JF, Blanché-Koch H, Boland A, Carroll P, Geneviève D, Zanlonghi X, Arndt C, Hamel CP, Defoort-Dhellemmes S, Meunier I. Manes G, et al. Among authors: guignard t. Hum Mol Genet. 2017 Nov 15;26(22):4367-4374. doi: 10.1093/hmg/ddx322. Hum Mol Genet. 2017. PMID: 28973654 Free article.
20 results