Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions

Laurence Faivre, Camille Level, Régis Coutant, Patrice Rodien, Anne Barlier, Alexandru Saveanu, Claire Bouvattier, Patricia Bretones, Laetitia Martinerie, Sylvie Rossignol, Camille Lenelle, Florence Roucher, Christine Binquet, Laurent Pasquier, Emeline Davoine, Coline Cormier, Marie Bournez, Raphaelle Maudinas, Maxime Gonnot, Augustin Lefevre, Julien Maraval, Hana Safraou, Yannis Duffourd, Christine Bellanné-Chantelot, Cécile Saint-Martin, Anne Bergougnoux, Delphine Mallet, Jérôme Bouligand, Nicolas de Roux, Lucie Coppin, Gwenaelle Diene, Christine Poitoux, Delphine Prunier, Xavier Dieu, Nelly Burnichon, Sophie Christin-Maitre, Sylvie Jaillard, Erika Launay, Jean-Pierre Rabès, Pascale Benlian, Mathilde Di Filippo, Oriane Marmontel, Christine Poitou Bernert, Corinne Vigouroux, Elise Bismuth, Jacques Beltrand, Michel Polak, Sophie Giraud, Pascal Pigny, Frédérique Savagner, Isabelle Olivier Petit, Jean-Baptiste Arnoux, Sophie Beliard, Marie-Françoise Odou, Pauline Romanet, Arnaud Molin, Andreea Apetrei, Nicolas Richard, Laurence Pacot, Eric Pasmant, Marguerite Hureaux, Rosa Vargas, Mathilde Gay-Bellile, Karine Aouchiche, Alain Carrié, Margaux Chauvet, Antonio Gallo, Julie Lemale, Philippe Moulin, Noël Peretti, Christel Thauvin-Robinet, Frédéric Huet, Véronique Tardy-Guidolet

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DOI: 10.1016/j.ando.2026.102517
Published: 2026-04
Container: Annales d'Endocrinologie
Publisher: Elsevier BV
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1016/j.ando.2026.102517,
  title = {Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions},
  author = {Laurence Faivre and Camille Level and Régis Coutant and Patrice Rodien and Anne Barlier and Alexandru Saveanu and Claire Bouvattier and Patricia Bretones and Laetitia Martinerie and Sylvie Rossignol and Camille Lenelle and Florence Roucher and Christine Binquet and Laurent Pasquier and Emeline Davoine and Coline Cormier and Marie Bournez and Raphaelle Maudinas and Maxime Gonnot and Augustin Lefevre and Julien Maraval and Hana Safraou and Yannis Duffourd and Christine Bellanné-Chantelot and Cécile Saint-Martin and Anne Bergougnoux and Delphine Mallet and Jérôme Bouligand and Nicolas de Roux and Lucie Coppin and Gwenaelle Diene and Christine Poitoux and Delphine Prunier and Xavier Dieu and Nelly Burnichon and Sophie Christin-Maitre and Sylvie Jaillard and Erika Launay and Jean-Pierre Rabès and Pascale Benlian and Mathilde Di Filippo and Oriane Marmontel and Christine Poitou Bernert and Corinne Vigouroux and Elise Bismuth and Jacques Beltrand and Michel Polak and Sophie Giraud and Pascal Pigny and Frédérique Savagner and Isabelle Olivier Petit and Jean-Baptiste Arnoux and Sophie Beliard and Marie-Françoise Odou and Pauline Romanet and Arnaud Molin and Andreea Apetrei and Nicolas Richard and Laurence Pacot and Eric Pasmant and Marguerite Hureaux and Rosa Vargas and Mathilde Gay-Bellile and Karine Aouchiche and Alain Carrié and Margaux Chauvet and Antonio Gallo and Julie Lemale and Philippe Moulin and Noël Peretti and Christel Thauvin-Robinet and Frédéric Huet and Véronique Tardy-Guidolet},
  year = {2026},
  journal = {Annales d'Endocrinologie},
  doi = {10.1016/j.ando.2026.102517},
  url = {https://doi.org/10.1016/j.ando.2026.102517}
}

RIS

TY  - JOUR
TI  - Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions
AU  - Laurence Faivre
AU  - Camille Level
AU  - Régis Coutant
AU  - Patrice Rodien
AU  - Anne Barlier
AU  - Alexandru Saveanu
AU  - Claire Bouvattier
AU  - Patricia Bretones
AU  - Laetitia Martinerie
AU  - Sylvie Rossignol
AU  - Camille Lenelle
AU  - Florence Roucher
AU  - Christine Binquet
AU  - Laurent Pasquier
AU  - Emeline Davoine
AU  - Coline Cormier
AU  - Marie Bournez
AU  - Raphaelle Maudinas
AU  - Maxime Gonnot
AU  - Augustin Lefevre
AU  - Julien Maraval
AU  - Hana Safraou
AU  - Yannis Duffourd
AU  - Christine Bellanné-Chantelot
AU  - Cécile Saint-Martin
AU  - Anne Bergougnoux
AU  - Delphine Mallet
AU  - Jérôme Bouligand
AU  - Nicolas de Roux
AU  - Lucie Coppin
AU  - Gwenaelle Diene
AU  - Christine Poitoux
AU  - Delphine Prunier
AU  - Xavier Dieu
AU  - Nelly Burnichon
AU  - Sophie Christin-Maitre
AU  - Sylvie Jaillard
AU  - Erika Launay
AU  - Jean-Pierre Rabès
AU  - Pascale Benlian
AU  - Mathilde Di Filippo
AU  - Oriane Marmontel
AU  - Christine Poitou Bernert
AU  - Corinne Vigouroux
AU  - Elise Bismuth
AU  - Jacques Beltrand
AU  - Michel Polak
AU  - Sophie Giraud
AU  - Pascal Pigny
AU  - Frédérique Savagner
AU  - Isabelle Olivier Petit
AU  - Jean-Baptiste Arnoux
AU  - Sophie Beliard
AU  - Marie-Françoise Odou
AU  - Pauline Romanet
AU  - Arnaud Molin
AU  - Andreea Apetrei
AU  - Nicolas Richard
AU  - Laurence Pacot
AU  - Eric Pasmant
AU  - Marguerite Hureaux
AU  - Rosa Vargas
AU  - Mathilde Gay-Bellile
AU  - Karine Aouchiche
AU  - Alain Carrié
AU  - Margaux Chauvet
AU  - Antonio Gallo
AU  - Julie Lemale
AU  - Philippe Moulin
AU  - Noël Peretti
AU  - Christel Thauvin-Robinet
AU  - Frédéric Huet
AU  - Véronique Tardy-Guidolet
PY  - 2026
JO  - Annales d'Endocrinologie
DO  - 10.1016/j.ando.2026.102517
UR  - https://doi.org/10.1016/j.ando.2026.102517
ER  -

APA

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., Roux, N. D., Coppin, L., Diene, G., Poitoux, C., Prunier, D., Dieu, X., Burnichon, N., Christin-Maitre, S., Jaillard, S., Launay, E., Rabès, J., Benlian, P., Filippo, M. D., Marmontel, O., Bernert, C. P., Vigouroux, C., Bismuth, E., Beltrand, J., Polak, M., Giraud, S., Pigny, P., Savagner, F., Petit, I. O., Arnoux, J., Beliard, S., Odou, M., 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. (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.2026.102517

Source records

crossref · retrieved 2026-09-26T09:13:12.341Z