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Ebiomedicine|March 1, 2025
Bi-allelic LAMP3 variants in childhood interstitial lung disease: a surfactant-related diseaseCamille Louvrier, Tifenn Desroziers, Yohan Soreze, et al.
Respirology (Carlton, Vic.)|February 12, 2024
Similarities and differences of interstitial lung disease associated with pathogenic variants in SFTPC and ABCA3 in adultsRémi Diesler, Marie Legendre, Salim Si-Mohamed, et al.
Human Mutation|June 25, 2019
Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutationsEnzo Cohen, Sabrina Belkacem, Soumeya Fedala, et al.
BMJ Open|September 1, 2018
Clinical and multi-omics cross-phenotyping of patients with autoimmune and autoinflammatory diseases: the observational TRANSIMMUNOM protocolRoberta Lorenzon, Encarnita Mariotti-Ferrandiz, Caroline Aheng, et al.
American Journal of Human Genetics|September 3, 2013
Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defectsEsther Kott, Marie Legendre, Bruno Copin, et al.
American Journal of Respiratory and Critical Care Medicine|July 22, 2006
Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutationMaimoona A Zariwala, Margaret W Leigh, Franck Ceppa, et al.
American Journal of Human Genetics|November 26, 2018
Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs InversusMahmoud R Fassad, Amelia Shoemark, Marie Legendre, et al.
American Journal of Human Genetics|January 25, 2020
TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus FlagellaLucie Thomas, Khaled Bouhouche, Marjorie Whitfield, et al.
The Journal of Experimental Medicine|July 30, 2020
Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signalingAlice Lepelley, Maria José Martin-Niclós, Melvin Le Bihan, et al.
Science Translational Medicine|April 1, 2016
Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activationSeth L Masters, Vasiliki Lagou, Isabelle Jéru, et al.
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