Résultat de recherche

Genome editing approaches to β-hemoglobinopathies.

Mégane Brusson, Annarita Miccio

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Long-term outcomes of lentiviral gene therapy for the β-hemoglobinopathies: the HGB-205 trial.

Anne Chalumeau, Adeline DENIS, Bénédicte Neven, Emmanuelle SIX, Annarita Miccio , Marina Cavazzana

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Base-editing-mediated dissection of a γ-globin cis-regulatory element for the therapeutic reactivation of fetal hemoglobin expression.

Panagiotis Antoniou, Giulia Hardouin, Pierre Martinucci, Giacomo Frati, Tristan Felix, Anne Chalumeau, Letizia Fontana, Jeanne Martin, Mégane Brusson, Vincent Abramowski, Jean-Pierre De Villartay, Marina Cavazzana, Oriana Romano, Annarita Miccio

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Novel lentiviral vectors for gene therapy of sickle cell disease combining gene addition and gene silencing strategies.

Mégane Brusson, Anne Chalumeau, Pierre Martinucci, Oriana Romano, Tristan Felix, Sophie Ramadier, Marina Cavazzana, Annarita Miccio

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A wave of deep intronic mutations in X-linked Alport syndrome.

Christelle Arrondel, Hassan Saei, Laurence Heidet, Jessica Kachmar, Philippe Couarch, Olivier Gribouval, Mélanie Parisot, Patrick Nitschké, Corinne Antignac, Guillaume Dorval

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VNtyper enables accurate alignment-free genotyping of MUC1 coding VNTR using short-read sequencing data in autosomal dominant tubulointerstitial kidney disease.

Hassan Saei, Laurence Heidet, Olivier Gribouval, Corinne Antignac, Patrick Nitschké, Guillaume Dorval

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Overcoming the challenges associated with identification of deep intronic variants by whole genome sequencing.

Marie Dirix, Olivier Gribouval, Christelle Arrondel, Olivia Boyer, Corinne Antignac, Laurence Heidet, Guillaume Dorval

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