Publications and ressources

Mitochondrial Nucleic Acid as a Driver of Pathogenic Type I Interferon Induction in Mendelian Disease

Alice Lepelley, Yanick Crow

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JAK inhibition in the type I interferonopathies.

Yanick Crow , Marie-Louise Frémond

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Alternative pathways for the development of lymphoid structures in humans.

Nathalie Boddaert, Claude Griscelli, Bénédicte Neven, Alain Fischer

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Single-cell transcriptomics of the early developing mouse cerebral cortex disentangle the spatial and temporal components of neuronal fate acquisition.

Yoann Saillour, Andrzej W Cwetsch, Alessandra Pierani, Frédéric Causeret

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Improving early diagnosis of rare diseases using Natural Language Processing in unstructured medical records: an illustration from Dravet syndrome

Nicolas Garcelon, Rima NABBOUT, Mathieu Kuchenbuch , Antoine Neuraz

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A DL-4- and TNFα-based culture system to generate high numbers of nonmodified or genetically modified immunotherapeutic human T-lymphoid progenitors.

Kuiying MA, Sabrina LIZOT, Juliette OLIVRÉ, Corinne de Chappedelaine, Akshay JOSHI, Antonio Rausell, Laura SIMONS, Julien ZUBER, Emmanuelle SIX, Marina Cavazzana, Chantal LAGRESLE-PEYROU, Isabelle André

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Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child.

Maya Chrabieh, Jérémie Rosain, Gaspard Kerner, Vivien Beziat, Jacinta Bustamante , Bertrand Boisson, Laurent Abel , Stéphanie Boisson-Dupuis, Jean-Laurent CASANOVA

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The multiple facets of Cajal-Retzius neurons.

Frédéric Causeret, Alessandra Pierani, Matthieu Moreau

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Identification of Similar Patients Through Medical Concept Embedding from Electronic Health Records: A Feasibility Study for Rare Disease Diagnosis

Marc Vincent, Nicolas Garcelon, Sophie Saunier

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Polyclonal expansion of TCR Vbeta 21.3+ CD4+ and CD8+ T cells is a hallmark of Multisystem Inflammatory Syndrome in Children.

Paul Bastard, Shen-Ying Zhang, Laurent Abel , Jean-Laurent CASANOVA

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Polyclonal expansion of TCR Vbeta 21.3+ CD4+ and CD8+ T cells is a hallmark of Multisystem Inflammatory Syndrome in Children.

Paul Bastard, Shen-Ying Zhang, Laurent Abel , Jean-Laurent CASANOVA

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Polyclonal expansion of TCR Vbeta 21.3+ CD4+ and CD8+ T cells is a hallmark of Multisystem Inflammatory Syndrome in Children.

Paul Bastard, Shen-Ying Zhang, Laurent Abel , Jean-Laurent CASANOVA

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Functional characterization of RELN missense mutations involved in recessive and dominant forms of Neuronal Migration Disorders

Martina Riva, Sofia Ferreira, Vera Medvedeva, Frédéric Causeret, Nadia Bahi-Buisson, Alessandra Pierani

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Wiring of higher-order cortical areas: Spatiotemporal development of cortical hierarchy.

Alessandra Pierani

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Rheumatoid factor positive polyarticular juvenile idiopathic arthritis associated with a novel COPA mutation.

Yanick Crow , Marie-Louise Frémond

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