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Page 1
B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation.
Yauy K, Tran Mau-Them F, Willems M, Coubes C, Blanchet P, Herlin C, Taleb Arrada I, Sanchez E, Faure JM, Le Gac MP, Prodhomme O, Boland A, Meyer V, Rivière JB, Duffourd Y, Deleuze JF, Guignard T, Captier G, Barat-Houari M, Genevieve D. Yauy K, et al. Among authors: guignard t. Genet Med. 2018 Feb;20(2):269-274. doi: 10.1038/gim.2017.109. Epub 2017 Aug 3. Genet Med. 2018. PMID: 28771243 Free article.
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.
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
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.
POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4.
Sanchez E, Laplace-Builhé B, Mau-Them FT, Richard E, Goldenberg A, Toler TL, Guignard T, Gatinois V, Vincent M, Blanchet C, Boland A, Bihoreau MT, Deleuze JF, Olaso R, Nephi W, Lüdecke HJ, Verheij JBGM, Moreau-Lenoir F, Denoyelle F, Rivière JB, Laplanche JL, Willing M, Captier G, Apparailly F, Wieczorek D, Collet C, Djouad F, Geneviève D. Sanchez E, et al. Among authors: guignard t. Genet Med. 2020 Mar;22(3):547-556. doi: 10.1038/s41436-019-0669-9. Epub 2019 Oct 24. Genet Med. 2020. PMID: 31649276 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.
20 results