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