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, Di Filippo M, 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

Open source

DOI
10.1016/j.ando.2026.102557
Published
2026 May
Container
Annales d'endocrinologie
Publisher
Not recorded
Open access
unknown

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BibTeX

@article{allodium:10.1016/j.ando.2026.102557,
  title = {Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions.},
  author = {Faivre L and Level C and Coutant R and Rodien P and Barlier A and Saveanu A and Bouvattier C and Bretones P and Martinerie L and Rossignol S and Lenelle C and Roucher F and Binquet C and Pasquier L and Davoine E and Cormier C and Bournez M and Maudinas R and Gonnot M and Lefevre A and Maraval J and Safraou H and Duffourd Y and Bellanné-Chantelot C and Saint-Martin C and Bergougnoux A and Mallet D and Bouligand J and de Roux N and Coppin L and Diene G and Poitoux C and Prunier D and Dieu X and Burnichon N and Christin-Maitre S and Jaillard S and Launay E and Rabès JP and Benlian P and Di Filippo M and Marmontel O and Bernert CP and Vigouroux C and Bismuth E and Beltrand J and Polak M and Giraud S and Pigny P and Savagner F and Petit IO and Arnoux JB and Beliard S and Odou MF and Romanet P and Molin A and Apetrei A and Richard N and Pacot L and Pasmant E and Hureaux M and Vargas R and Gay-Bellile M and Aouchiche K and Carrié A and Chauvet M and Gallo A and Lemale J and Moulin P and Peretti N and Thauvin-Robinet C and Huet F and Tardy-Guidolet V},
  year = {2026},
  journal = {Annales d'endocrinologie},
  doi = {10.1016/j.ando.2026.102557},
  url = {https://doi.org/10.1016/j.ando.2026.102557}
}

RIS

TY  - JOUR
TI  - Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions.
AU  - Faivre L
AU  - Level C
AU  - Coutant R
AU  - Rodien P
AU  - Barlier A
AU  - Saveanu A
AU  - Bouvattier C
AU  - Bretones P
AU  - Martinerie L
AU  - Rossignol S
AU  - Lenelle C
AU  - Roucher F
AU  - Binquet C
AU  - Pasquier L
AU  - Davoine E
AU  - Cormier C
AU  - Bournez M
AU  - Maudinas R
AU  - Gonnot M
AU  - Lefevre A
AU  - Maraval J
AU  - Safraou H
AU  - Duffourd Y
AU  - Bellanné-Chantelot C
AU  - Saint-Martin C
AU  - Bergougnoux A
AU  - Mallet D
AU  - Bouligand J
AU  - de Roux N
AU  - Coppin L
AU  - Diene G
AU  - Poitoux C
AU  - Prunier D
AU  - Dieu X
AU  - Burnichon N
AU  - Christin-Maitre S
AU  - Jaillard S
AU  - Launay E
AU  - Rabès JP
AU  - Benlian P
AU  - Di Filippo M
AU  - Marmontel O
AU  - Bernert CP
AU  - Vigouroux C
AU  - Bismuth E
AU  - Beltrand J
AU  - Polak M
AU  - Giraud S
AU  - Pigny P
AU  - Savagner F
AU  - Petit IO
AU  - Arnoux JB
AU  - Beliard S
AU  - Odou MF
AU  - Romanet P
AU  - Molin A
AU  - Apetrei A
AU  - Richard N
AU  - Pacot L
AU  - Pasmant E
AU  - Hureaux M
AU  - Vargas R
AU  - Gay-Bellile M
AU  - Aouchiche K
AU  - Carrié A
AU  - Chauvet M
AU  - Gallo A
AU  - Lemale J
AU  - Moulin P
AU  - Peretti N
AU  - Thauvin-Robinet C
AU  - Huet F
AU  - Tardy-Guidolet V
PY  - 2026
JO  - Annales d'endocrinologie
DO  - 10.1016/j.ando.2026.102557
UR  - https://doi.org/10.1016/j.ando.2026.102557
ER  -

APA

L, F., C, L., R, C., P, R., A, B., A, S., C, B., P, B., L, M., S, R., C, L., F, R., C, B., L, P., E, D., C, C., M, B., R, M., M, G., A, L., J, M., H, S., Y, D., C, B., C, S., A, B., D, M., J, B., N, D. R., L, C., G, D., C, P., D, P., X, D., N, B., S, C., S, J., E, L., JP, R., P, B., M, D. F., O, M., CP, B., C, V., E, B., J, B., M, P., S, G., P, P., F, S., IO, P., JB, A., S, B., MF, O., P, R., A, M., A, A., N, R., L, P., E, P., M, H., R, V., M, G., K, A., A, C., M, C., A, G., J, L., P, M., N, P., C, T., F, H., & V, T. (2026). Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions.. Annales d'endocrinologie. https://doi.org/10.1016/j.ando.2026.102557

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