Présentation
Publications scientifiques
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2023Journal (source)BloodDOCK11 deficiency in patients with X-linked actinopathy and autoimmunity.
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2022Journal (source)J Med Genet.
Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals.
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2021Journal (source)Med (N Y)
A monocyte/dendritic cell molecular signature of SARS-CoV-2-related multisyst...
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2021Journal (source)Genes (Basel)
Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic RPGRIP1 P...
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2020Journal (source)Science
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19.
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2020Journal (source)Science
Autoantibodies against type I IFNs in patients with life-threatening COVID-19.
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2020Journal (source)Am. J. Hum. Genet.
Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmenta...
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2019Journal (source)Front Genet
Identification of an Endoglin Variant Associated With HCV-Related Liver Fibro...
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2019Journal (source)Hum. Mol. Genet.
PAICS deficiency, a new defect of de novo purine synthesis resulting in multi...
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2019Journal (source)Blood
Pediatric Evans syndrome is associated with a high frequency of potentially d...
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2018Journal (source)EMBO Mol Med
Human ALPI deficiency causes inflammatory bowel disease and highlights a key ...
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2016Journal (source)Clin. Immunol.
LRBA deficiency with autoimmunity and early onset chronic erosive polyarthritis.
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2015Journal (source)Nat Commun
Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule...
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2010Journal (source)J. Clin. Invest.
Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a conseq...