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The European research collaboration for Children's Interstitial Lung Disease (ChILDEU) ERS Clinical Research Collaboration

Steve Cunningham , Carlee Gilbert , Nico Schwerk
European Respiratory Journal, 2023, 52 (6), pp.1801855. ⟨10.1183/13993003.01855-2018⟩
Journal articles inserm-04041102v1
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1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

Clémence Jacquin , Emilie Landais , Céline Poirsier , Alexandra Afenjar , Ahmad Akhavi , et al.
American Journal of Medical Genetics Part A, 2023, 191 (2), pp.445-458. ⟨10.1002/ajmg.a.63041⟩
Journal articles hal-03899297v1
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Identification of predictive criteria for pathogenic variants of primary bilateral macronodular adrenal hyperplasia (PBMAH) gene ARMC5 in 352 unselected patients

Lucas Bouys , Anna Vaczlavik , Anne Jouinot , Patricia Vaduva , Stéphanie Espiard , et al.
European Journal of Endocrinology, 2023, 187 (1), pp.123-134. ⟨10.1530/EJE-21-1032⟩
Journal articles hal-03982784v1
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How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome

Mathias Schwartz , Damien Sternberg , Sandra Whalen , Alexandra Afenjar , Arnaud Isapof , et al.
American Journal of Medical Genetics Part A, 2023, 176 (1), pp.151-155. ⟨10.1002/ajmg.a.38515⟩
Journal articles inserm-03851530v1
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A critical region of A20 unveiled by missense TNFAIP3 variations that lead to autoinflammation

Elma El Khouri , Farah Diab , Camille Louvrier , Eman Assrawi , Aphrodite Daskalopoulou , et al.
eLife, 2023, 12, pp.e81280. ⟨10.7554/eLife.81280⟩
Journal articles inserm-04148971v1
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Hypomorphic pathogenic variant in SFTPB leads to adult pulmonary fibrosis

Tifenn Desroziers , Grégoire Prévot , Aurore Coulomb , Valérie Nau , Florence Dastot-Le Moal , et al.
European Journal of Human Genetics, 2023, ⟨10.1038/s41431-023-01413-w⟩
Journal articles inserm-04148844v1
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Diagnostic workup of childhood interstitial lung disease

Nadia Nathan , Matthias Griese , Katarzyna Michel , Julia Carlens , Carlee Gilbert , et al.
European Respiratory Review, 2023, 32 (167), pp.220188. ⟨10.1183/16000617.0188-2022⟩
Journal articles inserm-04016668v1