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Page 1
Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions.
Faivre L, Level C, Coutant R, Rodien P, Barlier A, Saveanu A, Bouvattier C, Bretones P, Martinerie L, Rossignol S, Lenelle C, Roucher F, Binquet C, Pasquier L, Davoine E, Cormier C, Bournez M, Maudinas R, Gonnot M, Lefevre A, Maraval J, Safraou H, Duffourd Y, Bellanné-Chantelot C, Saint-Martin C, Bergougnoux A, Mallet D, Bouligand J, de Roux N, Coppin L, Diene G, Poitoux C, Prunier D, Dieu X, Burnichon N, Christin-Maitre S, Jaillard S, Launay E, Rabès JP, Benlian P, Filippo MD, Marmontel O, Bernert CP, Vigouroux C, Bismuth E, Beltrand J, Polak M, Giraud S, Pigny P, Savagner F, Petit IO, Arnoux JB, Beliard S, Odou MF, Romanet P, Molin A, Apetrei A, Richard N, Pacot L, Pasmant E, Hureaux M, Vargas R, Gay-Bellile M, Aouchiche K, Carrié A, Chauvet M, Gallo A, Lemale J, Moulin P, Peretti N, Thauvin-Robinet C, Huet F, Tardy-Guidolet V. Faivre L, et al. Among authors: level c. Ann Endocrinol (Paris). 2026 Mar 19:102517. doi: 10.1016/j.ando.2026.102517. Online ahead of print. Ann Endocrinol (Paris). 2026. PMID: 41864333
PERIGENOMED-CLINICS 1-the first study on feasibility, acceptability and psychosocial impact of PERIGENOMED: a pilot project aimed at providing initial concrete evidence on the relevance of panel-based genome sequencing for newborn screening (NBS) in France.
Level C, Thauvin-Robinet C, Binquet C, Duffourd Y, Davoine E, Chevarin M, Tran-Mau-Them F, Lemaitre M, Bruel AL, Safraou H, Salvi D, Tisserant E, Lecommandeur E, Charreton A, Hassine A, de Tayrac M, Redon R, Barc J, Schmitt S, Piard J, Kuentz P, Cormier C, Malbos M, Racine C, Chabrol B, Cheillan D, Tardy V, Colin E, Bris C, Mercier S, Nizon M, Gaudillat L, Loizeau V, Lenelle C, Mottet N, Simon E, Arnoux JB, Carpentier M, Renaud C, Ziegler A, Lejeune C, Jannot AS, Asensio ML, Rollier P, Odent S, Bezieau S, Pasquier L, Huet F, Faivre L. Level C, et al. BMJ Open. 2025 Oct 23;15(10):e105752. doi: 10.1136/bmjopen-2025-105752. BMJ Open. 2025. PMID: 41130699 Free PMC article.
Data-driven consideration of genetic disorders for global genomic newborn screening programs.
Minten T, Bick S, Adelson S, Gehlenborg N, Amendola LM, Boemer F, Coffey AJ, Encina N, Ferlini A, Kirschner J, Russell BE, Servais L, Sund KL, Taft RJ, Tsipouras P, Zouk H; ICoNS Gene List Contributors; Bick D; International Consortium on Newborn Sequencing (ICoNS); Green RC, Gold NB. Minten T, et al. Genet Med. 2025 Jul;27(7):101443. doi: 10.1016/j.gim.2025.101443. Epub 2025 May 9. Genet Med. 2025. PMID: 40357684 Free article.
Cardiogenetics and uncertainty: Evaluation of professional vulnerability in France.
Gaudillat L, Patay L, Sawka C, Baurand A, Nambot S, Level C, Laurent G, Eicher JC, Bertaux G, Eicher SF, Denis C, Carvallo S, Cazeneuve C, Janin A, Millat G, Peyron C, Thauvin-Robinet C, Charron P, Faivre L. Gaudillat L, et al. Among authors: level c. Eur J Med Genet. 2025 Apr;74:104999. doi: 10.1016/j.ejmg.2025.104999. Epub 2025 Feb 9. Eur J Med Genet. 2025. PMID: 39933637 Free article.
[Re-engineering Ibode training].
Level C. Level C. Rev Infirm. 2024 Oct;73(304):27-28. doi: 10.1016/j.revinf.2024.08.009. Epub 2024 Sep 30. Rev Infirm. 2024. PMID: 39393868 French.
29 results