Publications and ressources

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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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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Posterior Fossa Arachnoid Cyst in a Pediatric Population is Associated with Social Perception and Rest Cerebral Blood Flow Abnormalities.

Monica Zilbovicius , Nathalie Boddaert, Ana Saitovitch, Elza Rechtman, Hervé Lemaître, Ludovic Fillon, Jean-Marc Tacchella, Jennifer Boisgontier

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Mosaic Heterochrony in Neural Progenitors Sustains Accelerated Brain Growth and Neurogenesis in the Juvenile Killifish N. furzeri.

Marion Coolen

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A Comprehensive Map of the Monocyte-Derived Dendritic Cell Transcriptional Network Engaged upon Innate Sensing of HIV.

Mickaël Ménager

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A Comprehensive Map of the Monocyte-Derived Dendritic Cell Transcriptional Network Engaged upon Innate Sensing of HIV.

Marine LUKA, Ghaith ABDESSALEM

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Fatal Hypogammaglobulinemia 3 Years after Rituximab in a Patient with Immune Thrombocytopenia: An Underlying Genetic Predisposition?

Frédéric Rieux-Laucat

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Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts

Yanick Crow , Brigitte Bader-Meunier, Sylvain Latour

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ADAR1 mediated regulation of neural crest derived melanocytes and Schwann cell development.

Lisa Zerad, Mélanie Parisot, Jeanne Amiel, Véronique Pingault, Nadège Bondurand

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