Publications and ressources

Fluid shear stress triggers cholesterol biosynthesis and uptake in inner medullary collecting duct cells, independently of nephrocystin-1 and nephrocystin-4.

Giulia Ferri, Mélanie Parisot, Alexandre Benmerah , Sophie Saunier

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Case Report: Zolpidem's paradoxical restorative action: A case report of functional brain imaging.

Jennifer Boisgontier, Ana Saitovitch, Thomas Blauwblomme, Ludovic Fillon, Hervé Lemaître, Alice Vinçon-Leite, Sarah Charpy, Monica Zilbovicius , Nathalie Boddaert, Lelio Guida, Raphaël Levy, Charles-Joris Roux, David Grévent

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Preoperative Detection of Subtle Focal Cortical Dysplasia in Children by Combined Arterial Spin Labeling, Voxel-Based Morphometry, Electroencephalography-Synchronized Functional MRI, Resting-State Regional Homogeneity, and 18F-fluorodeoxyglucose Positron

Nathalie Boddaert, Ana Saitovitch, Thomas Blauwblomme, Rima NABBOUT, Volodia Dangouloff-Ros, Ludovic Fillon, Jennifer Boisgontier, Sarah Charpy, Raphaël Levy, Charles-Joris Roux

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Association of Missense Variants in VSX2 With a Peculiar Form of Congenital Stationary Night Blindness Affecting All Bipolar Cells.

Jean-Michel Rozet, Isabelle Perrault

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Association of Missense Variants in VSX2 With a Peculiar Form of Congenital Stationary Night Blindness Affecting All Bipolar Cells.

Jean-Michel Rozet

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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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Genome-wide detection of human variants that disrupt intronic branchpoints.

Peng Zhang, Quentin Philippot, Bertrand Boisson, Shen-Ying Zhang, Anne Puel, Qian Zhang, Laurent Abel , Jean-Laurent CASANOVA

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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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Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia.

Qian Zhang, Daniela Matuozzo, Lucy Bizien, Astrid Marchal, Emmanuelle Jouanguy, Bertrand Boisson, Paul Bastard, Stéphanie Boisson-Dupuis, Laurent Abel , Shen-Ying Zhang, Aurélie Cobat, Jean-Laurent CASANOVA , Laurent Abel , Jean-Laurent CASANOVA

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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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The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies.

Jeremy Manry, Paul Bastard, Tom Le Voyer, Jérémie Rosain, Quentin Philippot, Lucy Bizien, Mélanie Migaud, Soraya Boucherit, Stanislas Lyonnet, Bertrand Boisson, Vivien Beziat, Shen-Ying Zhang, Olivier Hermine, Anne Puel, Emmanuelle Jouanguy, Qian Zhang, Jean-Laurent CASANOVA , Laurent Abel , Aurélie Cobat

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