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Page 1
The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing.
Levaillant L, Bouhours-Nouet N, Illouz F, Amsellem Jager J, Bachelot A, Barat P, Baron S, Bensignor C, Brac De La Perriere A, Braik Djellas Y, Caillot M, Caldagues E, Campas MN, Caquard M, Cartault A, Cheignon J, Decrequy A, Delemer B, Dieckmann K, Donzeau A, Doye E, Fradin M, Gaudillière M, Gatelais F, Gorce M, Hazart I, Houcinat N, Houdon L, Ister-Salome M, Jozwiak L, Jeannoel P, Labarthe F, Lacombe D, Lambert AS, Lefevre C, Leheup B, Leroy C, Maisonneuve B, Marchand I, Marquant E, Muszlak M, Pantalone L, Pochelu S, Quelin C, Radet C, Renoult-Pierre P, Reynaud R, Rouleau S, Teinturier C, Thevenon J, Turlotte C, Valle A, Vierge M, Villanueva C, Ziegler A, Dieu X, Bouzamondo N, Rodien P, Prunier-Mirebeau D, Coutant R. Levaillant L, et al. Among authors: doye e. J Clin Endocrinol Metab. 2023 Aug 18;108(9):e779-e788. doi: 10.1210/clinem/dgad119. J Clin Endocrinol Metab. 2023. PMID: 36884306 Free PMC article.
Phase 3 trial of lumasiran for primary hyperoxaluria type 1: A new RNAi therapeutic in infants and young children.
Sas DJ, Magen D, Hayes W, Shasha-Lavsky H, Michael M, Schulte I, Sellier-Leclerc AL, Lu J, Seddighzadeh A, Habtemariam B, McGregor TL, Fujita KP, Frishberg Y; ILLUMINATE-B Workgroup. Sas DJ, et al. Genet Med. 2022 Mar;24(3):654-662. doi: 10.1016/j.gim.2021.10.024. Epub 2021 Dec 8. Genet Med. 2022. PMID: 34906487 Free article. Clinical Trial.
Lumasiran, an RNAi Therapeutic for Primary Hyperoxaluria Type 1.
Garrelfs SF, Frishberg Y, Hulton SA, Koren MJ, O'Riordan WD, Cochat P, Deschênes G, Shasha-Lavsky H, Saland JM, Van't Hoff WG, Fuster DG, Magen D, Moochhala SH, Schalk G, Simkova E, Groothoff JW, Sas DJ, Meliambro KA, Lu J, Sweetser MT, Garg PP, Vaishnaw AK, Gansner JM, McGregor TL, Lieske JC; ILLUMINATE-A Collaborators. Garrelfs SF, et al. N Engl J Med. 2021 Apr 1;384(13):1216-1226. doi: 10.1056/NEJMoa2021712. N Engl J Med. 2021. PMID: 33789010 Clinical Trial.
TP53 Mutation and Its Prognostic Significance in Waldenstrom's Macroglobulinemia.
Poulain S, Roumier C, Bertrand E, Renneville A, Caillault-Venet A, Doye E, Geffroy S, Sebda S, Nibourel O, Nudel M, Herbaux C, Renaud L, Tomowiak C, Guidez S, Tricot S, Roche-Lestienne C, Quesnel B, Preudhomme C, Leleu X. Poulain S, et al. Among authors: doye e. Clin Cancer Res. 2017 Oct 15;23(20):6325-6335. doi: 10.1158/1078-0432.CCR-17-0007. Epub 2017 Jul 28. Clin Cancer Res. 2017. PMID: 28754818
Genomic Landscape of CXCR4 Mutations in Waldenström Macroglobulinemia.
Poulain S, Roumier C, Venet-Caillault A, Figeac M, Herbaux C, Marot G, Doye E, Bertrand E, Geffroy S, Lepretre F, Nibourel O, Decambron A, Boyle EM, Renneville A, Tricot S, Daudignon A, Quesnel B, Duthilleul P, Preudhomme C, Leleu X. Poulain S, et al. Among authors: doye e. Clin Cancer Res. 2016 Mar 15;22(6):1480-8. doi: 10.1158/1078-0432.CCR-15-0646. Epub 2015 Oct 21. Clin Cancer Res. 2016. PMID: 26490317