Publications and ressources

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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CRISPRthripsis: The Risk of CRISPR/Cas9-induced Chromothripsis in Gene Therapy.

Mégane Brusson, Annarita Miccio

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Periodic electroencephalographic discharges and epileptic spasms involve cortico-striatal-thalamic loops on Arterial Spin Labeling Magnetic Resonance Imaging

Ludovic Fillon, Ana Saitovitch, Jennifer Boisgontier, Alice Vinçon-Leite, Volodia Dangouloff-Ros, Thomas Blauwblomme, Monica Zilbovicius , Rima NABBOUT, Nathalie Boddaert

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Arterial Spin-Labeling Perfusion Imaging in the Early Stage of Sturge-Weber Syndrome

Ludovic Fillon, Volodia Dangouloff-Ros, Mathieu Kuchenbuch , Raphaël Levy, Charles-Joris Roux, Ana Saitovitch, Jennifer Boisgontier, Rima NABBOUT, Nathalie Boddaert

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Optical genome mapping refines cytogenetic diagnostics, prognostic stratification and provides new molecular insights in adult MDS/AML patients.

Felipe Suarez, Olivier Hermine, Lucile Couronné

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The renal inflammatory network of nephronophthisis.

Marceau Quatredeniers, Giulia Ferri, Esther Porée, Katy Billot, Eléonore Birgy, Salomé Ceccarelli, Sophie Saunier, Amandine Viau

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Super-enhancer hypermutation alters oncogene expression in B cell lymphoma.

Elodie Bal

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Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation.

Marion Coolen, Nami Altin, Karthyayani Rajamani , Giulia Barcia, Aurore POULIET, Patrick Nitschké, Nathalie Boddaert, Antonio Rausell, Lydie Burglen, Vincent Cantagrel

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Agonists of prostaglandin E2 receptors as potential first in class treatment for nephronophthisis and related ciliopathies.

Hugo Garcia, Esther Porée, Amandine Viau, Katy Billot, Eléonore Birgy, Meriem Garfa-Traoré , Salomé Ceccarelli, Manon Mehraz, Corinne Antignac, Stanislas Lyonnet, Alexandre Benmerah , Sophie Saunier

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Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice

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De novo generation of the NPM-ALK fusion recapitulates the pleiotropic phenotypes of ALK+ ALCL pathogenesis and reveals the ROR2 receptor as target for tumor cells.

Loelia Babin, Alice Darchen, Rosalie Borry, Claire Soudais, Lucile Couronné, Erika Brunet

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Targeted next-generation sequencing in a large series of fetuses with severe renal diseases.

Guillaume Dorval, Christelle Arrondel, Tania Attié-Bitach, Cécile Jeanpierre, Sophie Saunier, Laurence Heidet

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Human genetic and immunological determinants of critical COVID-19 pneumonia.

Qian Zhang, Paul Bastard, Aurélie Cobat, Jean-Laurent CASANOVA , Anna-Lena Neehus, Anne Puel, Bertrand Boisson, Daniela Matuozzo, Emmanuelle Jouanguy, Jean-Laurent CASANOVA , Jérémie Rosain, Jeremy Manry, Laurent Abel , Lucia Victoria Erazo, Quentin Philippot, Romain Levy, Shen-Ying Zhang, Stéphanie Boisson-Dupuis, Tom Le Voyer, Vivien Beziat

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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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Combination of lentiviral and genome editing technologies for the treatment of sickle cell disease.

Sophie Ramadier, Anne Chalumeau, Tristan Felix, Giacomo Frati, Mégane Brusson, Marina Cavazzana, Vasco Meneghini, Annarita Miccio

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