- ORCID iD
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0000-0003-3587-3955
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Replication stress, microcephalic primordial dwarfism, and compromised immunity in ATRIP deficient patients
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Investigating Chromosomal Radiosensitivity in Inborn Errors of Immunity: Insights from DNA Repair Disorders and Beyond
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ATRIP deficiency impairs the replication stress response and manifests as microcephalic primordial dwarfism and immunodeficiency.
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- Miscellaneous
- open access
Investigating chromosomal radiosensitivity in inborn errors of immunity : insights from DNA repair disorders and beyond
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- Miscellaneous
- open access
ATRIP deficiency impairs the replication stress response and manifests as microcephalic primordial dwarfism and immunodeficiency
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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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Integration of genomics and transcriptomics allows the identification of rare DNA damage defects in PID patients with a cancer predisposition
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Integration of genomics and transcriptomics to identify DNA damage defects in PID patients prone to cancer
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Missing heritability in Bloom syndrome : First report of a deep-intronic variant leading to pseudo-exon activation in the BLM gene
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Integration of genomics and transcriptomics to identify DNAdamage defects in PID patients with a cancer predisposition