Présentation
Publications scientifiques
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2025Journal (source)Blood Cancer JTelomere occupancy by TRF2 is altered by KIT mutations and correlates with ma...
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2024Journal (source)Nat Commun
GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with n...
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Journal (source)Cold Spring Harbor Laboratory
GPATCH11 variants cause mis-splicing and early-onset retin...
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2023Journal (source)Blood
DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity.
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2021Journal (source)Cell Rep Med
Compromised mitochondrial quality control triggers lipin1-related rhabdomyoly...
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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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2020Journal (source)Nat Commun
Kinesin-1 regulates antigen cross-presentation through the scission of tubula...
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2019Journal (source)J. Exp. Med.
Severe influenza pneumonitis in children with inherited TLR3 deficiency.
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2018Journal (source)FASEB J
Impairment of chondrogenesis and microfibrillar network in Adamtsl2 deficiency.
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2018Journal (source)Hum Mol Genet
Basal exon skipping and nonsense-associated altered splicing allows bypassing...
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Journal (source)Arterioscler. Thromb. Vasc. Biol.
Kinesin-1 Is a New Actor Involved in Platelet Secretion and Thrombus Stability.
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2018Journal (source)Am. J. Hum. Genet.
Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegenerati...
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2017Journal (source)Am. J. Hum. Genet.
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.
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2017Journal (source)Hum. Mol. Genet.
Constitutively-active FGFR3 disrupts primary cilium length and IFT20 traffick...
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2017Journal (source)Am. J. Hum. Genet.
Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associa...
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2016Journal (source)J. Cell Biol.
Kinesin-1 controls mast cell degranulation and anaphylaxis through PI3K-depen...
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2015Journal (source)Traffic
LYST controls the biogenesis of the endosomal compartment required for secret...
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2014Journal (source)J. Clin. Invest.
Inherited STING-activating mutation underlies a familial inflammatory syndrom...
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2012Journal (source)Blood
Terminal transport of lytic granules to the immune synapse is mediated by the...
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2011Journal (source)Nat Genet
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.