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673 results

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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: raymond 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.
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: raymond 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: raymond 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: raymond 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.
Atypical Clinical Presentation of Autosomal Recessive Polycystic Kidney Mimicking Medullary Sponge Kidney Disease.
Letavernier E, Schwoehrer M, Livrozet M, Saint-Jacques C, Raymond L, Saraeva R, Haymann JP, Frochot V, Daudon M, Mesnard L. Letavernier E, et al. Among authors: raymond l. Kidney Int Rep. 2021 Dec 6;7(4):916-919. doi: 10.1016/j.ekir.2021.11.035. eCollection 2022 Apr. Kidney Int Rep. 2021. PMID: 35497799 Free PMC article. No abstract available.
Whole-exome sequencing improves the diagnosis and care of men with non-obstructive azoospermia.
Kherraf ZE, Cazin C, Bouker A, Fourati Ben Mustapha S, Hennebicq S, Septier A, Coutton C, Raymond L, Nouchy M, Thierry-Mieg N, Zouari R, Arnoult C, Ray PF. Kherraf ZE, et al. Among authors: raymond l. Am J Hum Genet. 2022 Mar 3;109(3):508-517. doi: 10.1016/j.ajhg.2022.01.011. Epub 2022 Feb 15. Am J Hum Genet. 2022. PMID: 35172124 Free PMC article.
673 results