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Arthritis and Rheumatism|February 5, 2010
Functional consequences of a germline mutation in the leucine-rich repeat domain of NLRP3 identified in an atypical autoinflammatory disorderIsabelle Jéru, Sandrine Marlin, Gaëlle Le Borgne, et al.
Arthritis & Rheumatology (Hoboken, N.J.)|June 4, 2014
Brief Report: Involvement of TNFRSF11A molecular defects in autoinflammatory disordersIsabelle Jéru, Emmanuelle Cochet, Philippe Duquesnoy, et al.
The Journal of Allergy and Clinical Immunology|December 10, 2019
NLRP3-associated autoinflammatory diseases: Phenotypic and molecular characteristics of germline versus somatic mutationsCamille Louvrier, Eman Assrawi, Elma El Khouri, et al.
American Journal of Human Genetics|December 1, 2009
Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesiaPhilippe Duquesnoy, Estelle Escudier, Laetitia Vincensini, et al.
Thorax|November 1, 2019
Use of ruxolitinib in COPA syndrome manifesting as life-threatening alveolar haemorrhageMarie-Louise Frémond, Marie Legendre, Michael Fayon, et al.
Arthritis & Rheumatology (Hoboken, N.J.)|September 19, 2022
De Novo Gain-Of-Function Variations in LYN Associated With an Early-Onset Systemic Autoinflammatory DisorderCamille Louvrier, Elma El Khouri, Martine Grall Lerosey, et al.
Respirology (Carlton, Vic.)|October 3, 2025
Molecular Investigation in Early-Onset Interstitial Lung Disease: Results From 699 Unrelated PatientsCamille Louvrier, Nadia Nathan, Vincent Cottin, et al.
American Journal of Human Genetics|November 6, 2012
Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesiaEsther Kott, Philippe Duquesnoy, Bruno Copin, et al.
American Journal of Human Genetics|June 11, 2019
Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to AsthenozoospermiaMarjorie Whitfield, Lucie Thomas, Emilie Bequignon, et al.
Journal of Autoimmunity|October 2, 2024
Clinical correlates of lifetime and current comorbidity patterns in autoimmune and inflammatory diseasesSigne Hässler, Roberta Lorenzon, Marie Binvignat, et al.
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