Publications and ressources

A computational approach for detecting physiological homogeneity in the midst of genetic heterogeneity.

Peng Zhang, Aurélie Cobat, Daniela Matuozzo, Soraya Boucherit, Jean-Laurent CASANOVA , Laurent Abel , Shen-Ying Zhang

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The multiple facets of Cajal-Retzius neurons.

Frédéric Causeret, Alessandra Pierani, Matthieu Moreau

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Detection of homozygous and hemizygous complete or partial exon deletions by whole-exome sequencing.

Yoann Seeleuthner, Gaspard Kerner, Mélanie Migaud, Jérémie Rosain, Bertrand Boisson, Anne Puel, Jacinta Bustamante , Jean-Laurent CASANOVA , Laurent Abel , Aurélie Cobat

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Feline low-grade intestinal T cell lymphoma: a unique natural model of human indolent T cell lymphoproliferative disorder of the gastrointestinal tract.

Georgia MALAMUT, Nadine CERF-BENSUSSAN , Olivier Hermine, Lucile Couronné

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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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Phosphatase inhibition by LB-100 enhances BMN-111 stimulation of bone growth.

Nabil Kaci, Léa Loisay, Emilie Dambroise, Laurence Legeai-Mallet

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Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.

Karine Siquier , Vincent Cantagrel, Jeanne Amiel, Nathalie Boddaert

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Single-cell analysis of FOXP3 deficiencies in humans and mice unmasks intrinsic and extrinsic CD4+ T cell perturbations.

Emmanuelle SIX, Marianne DELVILLE, Julien ZUBER, Bénédicte Neven, Nadine CERF-BENSUSSAN , Frédéric Rieux-Laucat, Marina Cavazzana, Isabelle André

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A combination of cyclophosphamide and interleukin-2 allows CD4+ T cells converted to Tregs to control scurfy syndrome.

Marianne DELVILLE, Florence BELLIER, Sabrina LIZOT, Hélène VINÇON, Steicy SOBRINO, Romane THOUENON, Alexandrine GARRIGUE, Juliette OLIVRÉ, Soëli CHARBONNIER, Chantal LAGRESLE-PEYROU, Baptiste LAMARTHÉE, Julien ZUBER, Isabelle André, Marina Cavazzana, Emmanuelle SIX

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