- ORCID iD
- 0000-0003-2514-5655
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- Journal Article
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Alterations in the innate and adaptive immune system in a real-world cohort of multiple sclerosis patients treated with ocrelizumab
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Age-dependent signature of serum inflammatory cytokines IL-1Ra, IL-1β, IL-6, IL-18, TNF-α, CXCL9 and CXCL10 in healthy children
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SAMHD1 compound heterozygous rare variants associated with moyamoya and mitral valve disease in the absence of other features of Aicardi-Goutières syndrome
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- Miscellaneous
- open access
MultiNicheNet: a flexible framework for differential cell-cell communication analysis from multi-sample multi-condition single-cell transcriptomics data
(2023) -
Spleen function is reduced in individuals with NR5A1 variants with or without a difference of sex development : a cross-sectional study
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- Journal Article
- A1
- open access
LXR signaling controls homeostatic dendritic cell maturation
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- Journal Article
- A1
- open access
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
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- Miscellaneous
- open access
A Complement Atlas identifies interleukin 6 dependent alternative pathway dysregulation as a key druggable feature of COVID-19
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- Journal Article
- A1
- open access
Loss of GM-CSF-dependent instruction of alveolar macrophages in COVID-19 provides a rationale for inhaled GM-CSF treatment
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- Journal Article
- A1
- open access
GTF3A mutations predispose to herpes simplex encephalitis by disrupting biogenesis of the host-derived RIG-I ligand RNA5SP141
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- Journal Article
- A1
- open access
Efficacy and safety of the investigational complement C5 inhibitor zilucoplan in patients hospitalized with COVID-19 : an open-label randomized controlled trial
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- Journal Article
- A1
- open access
Role of integrin expression in the prediction of response to vedolizumab : a prospective real‐life multicentre cohort study
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- Journal Article
- A1
- open access
Mutations in RNU7-1 weaken secondary RNA structure, induce MCP-1 and CXCL10 in CSF, and result in Aicardi-Goutières syndrome with severe end-organ involvement
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- Journal Article
- A1
- open access
TIM3+ TRBV11-2 T cells and IFNγ signature in patrolling monocytes and CD16+ NK cells delineate MIS-C
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Individuals with NR5A1 (SF1) mutations and atypical sex development and their asymptomatic family member carriers are at high risk of hyposplenism
(2021) HORMONE RESEARCH IN PAEDIATRICS. In Hormone Research in Paediatrics 94(supplement 1). p.42-43 -
Clinical, genetic and immunological evaluation of the type I interferonopathy Aicardi-Goutieres syndrome caused by mutations in RNU7-1
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- Conference Paper
- C3
- open access
GTF3A mutations in a patient with herpes simplex encephalitis reveals a novel role in viral immunity by transcribing 5S rRNA pseudogenes serving as RIG-I ligands
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Novel mutations in RNU7-1 weaken secondary RNA structure, induce MCP-1 and CXCL10 in CSF and result in Aicardi-Goutières syndrome with severe end-organ involvement
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Intestinal cDC1 drive cross-tolerance to epithelial-derived antigen via induction of FoxP3(+) CD8(+) T-regs
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- Journal Article
- A1
- open access
X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19