- ORCID iD
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0000-0003-3587-3955
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- Journal Article
- A1
- open access
Cracking rare disorders : a new minimally invasive RNA-seq protocol
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- Journal Article
- A1
- open access
Replication stress, microcephalic primordial dwarfism, and compromised immunity in ATRIP deficient patients
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- Journal Article
- A1
- open access
Investigating chromosomal radiosensitivity in inborn errors of immunity : insights from DNA repair disorders and beyond
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Expanding molecular and clinical phenotype of Seckel syndrome : ATRIP deficient patient reveals novel insights in ATR signalling pathway
(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 32(Supplement 2). p.1549-1550 -
- 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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ATRIP-deficient patient expands molecular and clinical spectrum of Seckel syndrome
(2023) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 31(Supplement 1). p.521-521 -
- 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