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Predominance of BRCA2 Mutation and Estrogen Receptor Positivity in Unselected Breast Cancer with BRCA1 or BRCA2 Mutation.
Pujol P, Yauy K, Coffy A, Duforet-Frebourg N, Gabteni S, Daurès JP, Penault Llorca F, Thomas F, Hughes K, Turnbull C, Galibert V, Rideau C, Corsini C, Collet L, You B, Geneviève D, Philippe N. Pujol P, et al. Among authors: yauy k. Cancers (Basel). 2022 Jul 4;14(13):3266. doi: 10.3390/cancers14133266. Cancers (Basel). 2022. PMID: 35805038 Free PMC article.
Role of the general practitioner in the care of BRCA1 and BRCA2 mutation carriers: General practitioner and patient perspectives.
Vande Perre P, Toledano D, Corsini C, Escriba E, Laporte M, Bertet H, Yauy K, Toledano A, Galibert V, Baudry K, Clotet L, Million E, Picot MC, Geneviève D, Pujol P. Vande Perre P, et al. Among authors: yauy k. Mol Genet Genomic Med. 2018 Nov;6(6):957-965. doi: 10.1002/mgg3.464. Epub 2018 Oct 11. Mol Genet Genomic Med. 2018. PMID: 30308700 Free PMC article. Clinical Trial.
[Non-invasive prenatal screening].
Yauy K, Geneviève D. Yauy K, et al. Rev Prat. 2019 Feb;69(2):e55. Rev Prat. 2019. PMID: 30983238 French. No abstract available.
Genome Alert!: A standardized procedure for genomic variant reinterpretation and automated gene-phenotype reassessment in clinical routine.
Yauy K, Lecoquierre F, Baert-Desurmont S, Trost D, Boughalem A, Luscan A, Costa JM, Geromel V, Raymond L, Richard P, Coutant S, Broutin M, Lanos R, Fort Q, Cackowski S, Testard Q, Diallo A, Soirat N, Holder JM, Duforet-Frebourg N, Bouge AL, Beaumeunier S, Bertrand D, Audoux J, Genevieve D, Mesnard L, Nicolas G, Thevenon J, Philippe N. Yauy K, et al. Genet Med. 2022 Jun;24(6):1316-1327. doi: 10.1016/j.gim.2022.02.008. Epub 2022 Mar 17. Genet Med. 2022. PMID: 35311657 Free article.
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. 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.
Ovarian Clear Cell Carcinoma in Cowden Syndrome.
Yauy K, Imbert-Bouteille M, Bubien V, Lindet-Bourgeois C, Rathat G, Perrochia H, MacGrogan G, Longy M, Bessis D, Tinat J, Baert-Desurmont S, Blanluet M, Perre PV, Baudry K, Pujol P, Corsini C. Yauy K, et al. J Natl Compr Canc Netw. 2019 Jan;17(1):7-11. doi: 10.6004/jnccn.2018.7065. J Natl Compr Canc Netw. 2019. PMID: 30659124
Clinical and Molecular Spectrum of Nonsyndromic Early-Onset Osteoarthritis.
Ruault V, Yauy K, Fabre A, Fradin M, Van-Gils J, Angelini C, Baujat G, Blanchet P, Cuinat S, Isidor B, Jorgensen C, Lacombe D, Moutton S, Odent S, Sanchez E, Sigaudy S, Touitou I, Willems M, Apparailly F, Geneviève D, Barat-Houari M. Ruault V, et al. Among authors: yauy k. Arthritis Rheumatol. 2020 Oct;72(10):1689-1693. doi: 10.1002/art.41387. Epub 2020 Aug 25. Arthritis Rheumatol. 2020. PMID: 32510848 Free article.
Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt.
Rouxel F, Yauy K, Boursier G, Gatinois V, Barat-Houari M, Sanchez E, Lacombe D, Arpin S, Giuliano F, Haye D, Rio M, Toutain A, Dieterich K, Brischoux-Boucher E, Julia S, Nizon M, Afenjar A, Keren B, Jacquette A, Moutton S, Jacquemont ML, Duflos C, Capri Y, Amiel J, Blanchet P, Lyonnet S, Sanlaville D, Genevieve D. Rouxel F, et al. Among authors: yauy k. Eur J Hum Genet. 2022 Jun;30(6):682-686. doi: 10.1038/s41431-021-00994-8. Epub 2021 Nov 22. Eur J Hum Genet. 2022. PMID: 34803161 Free PMC article.
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