Publications and ressources

Phenotypic similarity for rare disease: Ciliopathy diagnoses and subtyping.

Sophie Saunier, Stanislas Lyonnet, Nicolas Garcelon

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Cardiac valve involvement in ADAR-related type I interferonopathy.

Yanick Crow , Luís Seabra

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EBGene trial: patient preselection outcomes for the European GENEGRAFT ex vivo phase I/II gene therapy trial for recessive dystrophic epidermolysis bullosa.

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EBGene trial: patient preselection outcomes for the European GENEGRAFT ex vivo phase I/II gene therapy trial for recessive dystrophic epidermolysis bullosa.

Alain Hovnanian

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EBGene trial: patient preselection outcomes for the European GENEGRAFT ex vivo phase I/II gene therapy trial for recessive dystrophic epidermolysis bullosa.

Alain Hovnanian

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Benefit Corporation: a path to affordable gene therapies?

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Identification of an Endoglin Variant Associated With HCV-Related Liver Fibrosis Progression by Next-Generation Sequencing.

Laurent Abel , Aurélie Cobat, Emmanuelle Jouanguy, Jean-Laurent CASANOVA

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XPO1 regulates erythroid differentiation and is a new target for the treatment of β-thalassemia.

Olivier Hermine

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Anti-MDA5 juvenile idiopathic inflammatory myopathy: a specific subgroup defined by differentially enhanced interferon-α signalling.

Luís Seabra, Alice Lepelley, Isabelle Melki, Marie-Louise Frémond, Pepa Martin-Niclos, Yanick Crow

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Kremen1-induced cell death is regulated by homo- and heterodimerization.

Frédéric Causeret, Alessandra Pierani

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Depdc5 knockdown causes mTOR-dependent motor hyperactivity in zebrafish.

Sorana CIURA

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Gene transfer into hematopoietic stem cells reduces HLH manifestations in a murine model of Munc13-4 deficiency.

Isabelle André, Marina Cavazzana, Geneviève de Saint Basile, Fernando Sepulveda

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Loss of ARHGEF1 causes a human primary antibody deficiency.

Marina Cavazzana, Isabelle André, Anne DURANDY, Alain Fischer, Sven KRACKER

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An Optimized Lentiviral Vector Efficiently Corrects the Human Sickle Cell Disease Phenotype.

Annarita Miccio

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Gene transfer into hematopoietic stem cells reduces HLH manifestations in a murine model of Munc13-4 deficiency.

Chantal LAGRESLE-PEYROU, Geneviève de Saint Basile, Marina Cavazzana, Isabelle André

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