Présentation
Publications scientifiques
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2026
ADAR1 loss-of-function variants altering RNA editing define a new interferon-..., Rockefeller University Press
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2026
Clonal Lymphocyte Expansions and JAK-STAT Pathway Mutations Define a Pathogen..., Gastroenterology
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2026
No Correlation Between Interferon Signaling and Cytosolic Mitochondrial DNA/R..., Eur J Immunol
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2023
A 22q13.1 duplication in mosaicism including SOX10., Am J Med Genet A
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2023
Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex comp..., Acta Neuropathol Commun
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2022
Identification of Germline Non-coding Deletions in XIAP Gene Causing XIAP Def..., J Clin Immunol
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2021
Netherton syndrome subtypes share IL-17/IL-36 signature with distinct IFN-α a..., J Allergy Clin Immunol
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2020
Improving the diagnostic efficiency of primary immunodeficiencies with target..., J Allergy Clin Immunol
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2018
Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and gr..., Eur J Med Genet
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2016
Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome., Am J Hum Genet
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2015
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus ..., Am J Hum Genet
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2013
ALDH1A3 mutations cause recessive anophthalmia and microphthalmia., Am J Hum Genet