Publications and ressources

Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development.

Lydie Burglen

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GATA Factor-Mediated Gene Regulation in Human Erythropoiesis.

Oriana Romano, Tristan Felix, Vasco Meneghini, Chiara Antoniani, Annarita Miccio

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Topoisomerase 2β mutation impairs early B-cell development.

Olivier Hermine, Alain Fischer, Anne DURANDY, Sven KRACKER

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Neural basis of interindividual variability in social perception in typically developing children and adolescents using diffusion tensor imaging.

Ana Saitovitch, Nathalie Boddaert, Monica Zilbovicius , Alice Vinçon-Leite, Hervé Lemaître, Elza Rechtman, Ludovic Fillon, David Grévent

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NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal-Hreidarsson syndrome.

Laëtitia Kermasson, Chantal LAGRESLE-PEYROU, Emmanuelle Ollivier, Alicia Fernandes, Jean-Pierre De Villartay, Patrick Revy

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Clonal tracking in gene therapy patients reveals a diversity of human hematopoietic differentiation programs

Emmanuelle SIX, Adeline DENIS, Marianne DELVILLE, Steicy SOBRINO, Isabelle André, Marina Cavazzana

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Kinesin-1 regulates antigen cross-presentation through the scission of tubulations from early endosomes in dendritic cells.

Meriem Belabed, Mathieu Kurowska, Alain Fischer, Geneviève de Saint Basile, Fernando Sepulveda , Gaël Ménasché

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Does Hydroxychloroquine Combat COVID-19? A Timeline of Evidence.

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Clonal tracking in gene therapy patients reveals a diversity of human hematopoietic differentiation programs.

Emmanuelle SIX, Adeline DENIS, Marianne DELVILLE, Steicy SOBRINO, Alain Fischer, Isabelle André, Marina Cavazzana

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Efficacy of ruxolitinib in subcutaneous panniculitis-like T-cell lymphoma and hemophagocytic lymphohistiocytosis.

Romain Levy, Frédéric Guérin, Despina Moshous, Alain Fischer, Geneviève de Saint Basile, Fernando Sepulveda , Bénédicte Neven

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Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism.

Céline Huber, Valérie Cormier-Daire

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Homozygous Loss-of-Function Mutations in CCDC134 Are Responsible for a Severe Form of Osteogenesis Imperfecta.

Johanne Dubail, Geneviève Baujat, Céline Huber, Caroline Michot, Valérie Cormier-Daire

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Impaired lymphocyte function and differentiation in CTPS1-deficient patients result from a hypomorphic homozygous mutation.

Steicy SOBRINO, Alain Fischer, Sylvain Latour

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Mutations in the MRPS28 gene encoding the small mitoribosomal subunit protein bS1m in a patient with intrauterine growth retardation, craniofacial dysmorphism and multisystemic involvement.

Benedetta RUZZENENTE, Lucas BIANCHI, Arnold Munnich, Agnès Rötig, Metodi METODIEV

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Editing a γ-globin repressor binding site restores fetal hemoglobin synthesis and corrects the sickle cell disease phenotype.

Annarita Miccio

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