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Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases.
Testard Q, Vanhoye X, Yauy K, Naud ME, Vieville G, Rousseau F, Dauriat B, Marquet V, Bourthoumieu S, Geneviève D, Gatinois V, Wells C, Willems M, Coubes C, Pinson L, Dard R, Tessier A, Hervé B, Vialard F, Harzallah I, Touraine R, Cogné B, Deb W, Besnard T, Pichon O, Laudier B, Mesnard L, Doreille A, Busa T, Missirian C, Satre V, Coutton C, Celse T, Harbuz R, Raymond L, Taly JF, Thevenon J. Testard Q, et al. Among authors: mesnard l. J Med Genet. 2022 Dec;59(12):1234-1240. doi: 10.1136/jmg-2022-108439. Epub 2022 Sep 22. J Med Genet. 2022. PMID: 36137615
Diagnostic Utility of Exome Sequencing for Kidney Disease.
Doreille A, Raymond L, Mesnard L. Doreille A, et al. Among authors: mesnard l. N Engl J Med. 2019 May 23;380(21):2079-2080. doi: 10.1056/NEJMc1903250. N Engl J Med. 2019. PMID: 31116937 No abstract available.
The Case | Isolated microscopic hematuria: a diagnostic journey.
Benichou N, Raymond L, Letavernier E, Mesnard L, Francois H. Benichou N, et al. Among authors: mesnard l. Kidney Int. 2021 Oct;100(4):955-956. doi: 10.1016/j.kint.2021.03.022. Kidney Int. 2021. PMID: 34556307 No abstract available.
French nationwide survey of undocumented end-stage renal disease migrant patient access to scheduled haemodialysis and kidney transplantation.
Doreille A, Godefroy R, Martzloff J, Deltombe C, Luque Y, Mesnard L, Hazzan M, Tsimaratos M, Rondeau E, Hourmant M, Moulin B, Robert T, Rafat C. Doreille A, et al. Among authors: mesnard l. Nephrol Dial Transplant. 2022 Jan 25;37(2):393-395. doi: 10.1093/ndt/gfab275. Nephrol Dial Transplant. 2022. PMID: 34586407 Free article. No abstract available.
Noninvasive screening of vancomycin-associated cast nephropathy.
Rafat C, Zaworski J, Luque Y, Daudon M, Doreille A, Mesnard L, Letavernier E. Rafat C, et al. Among authors: mesnard l. Kidney Int. 2022 Feb;101(2):425. doi: 10.1016/j.kint.2021.06.039. Kidney Int. 2022. PMID: 35065699 Free PMC article. 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. Among authors: mesnard l. 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.
137 results