Publications and ressources

Self-Awareness: Nucleic Acid-Driven Inflammation and the Type I Interferonopathies.

Alice Lepelley, Yanick Crow

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ATP6AP2 functions as a V-ATPase assembly factor in the endoplasmic reticulum.

Matias Simons

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The copy number variation landscape of congenital anomalies of the kidney and urinary tract.

Cécile Jeanpierre

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Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome.

Geneviève de Saint Basile, Fernando Sepulveda , Bénédicte Neven, Alain Fischer, Frédéric Guérin

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Pediatric-onset Evans syndrome: Heterogeneous presentation and high frequency of monogenic disorders including LRBA and CTLA4 mutations.

Frédéric Rieux-Laucat

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Mitochondrial double-stranded RNA triggers antiviral signalling in humans.

Agnès Rötig, Arnold Munnich, Manuel SCHIFF

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Intestinal-Cell Kinase and Juvenile Myoclonic Epilepsy.

Rima NABBOUT

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Efficacy of Ruxolitinib Therapy in a Patient With Severe Enterocolitis Associated With a STAT3 Gain-of-Function Mutation.

Nadine CERF-BENSUSSAN

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A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity.

Jean-Laurent CASANOVA

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NCBoost classifies pathogenic non-coding variants in Mendelian diseases through supervised learning on purifying selection signals in humans.

Antonio Rausell

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Thyroid Hypoplasia in Congenital Hypothyroidism Associated with Thyroid Peroxidase Mutations.

Aurore Carre, Athanasia Stoupa, Michel Polak

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Altered GLI3 and FGF8 signaling underlies acrocallosal syndrome phenotypes in Kif7 depleted mice.

Tania Attié-Bitach, Sophie Thomas

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Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis.

Laurent Abel , Aurélie Cobat, Jean-Laurent CASANOVA

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Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases.

Geneviève de Saint Basile, Fernando Sepulveda

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Human ALPI deficiency causes inflammatory bowel disease and highlights a key mechanism of gut homeostasis.

Nadine CERF-BENSUSSAN

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