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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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Central nervous system complications in adult cystinosis patients.

Nathalie Boddaert, Ana Saitovitch, Corinne Antignac, Jennifer Boisgontier, Hervé Lemaître

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Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome.

Céline Huber, Valérie Cormier-Daire

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Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder.

Nathalie Boddaert, Arnold Munnich

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Fenfluramine for Treatment-Resistant Seizures in Patients With Dravet Syndrome Receiving Stiripentol-Inclusive Regimens: A Randomized Clinical Trial.

Rima NABBOUT

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Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders.

Vincent Cantagrel

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Primary immunodeficiencies reveal the molecular requirements for effective host defense against EBV infection.

Sylvain Latour

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