Publications and ressources

Revolutionising healing: Gene Editing's breakthrough against sickle cell disease.

Annarita Miccio

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Inactivation of cytidine triphosphate synthase 1 prevents fatal auto-immunity in mice.

Claire Soudais, Romane Schaus, Norbert Minet, Sara Mouasni, Cécile Garcin, Pierre David, Paul Palmquist-Gomes, Alain Fischer, Emmanuel Martin, Sylvain Latour, Sigolène Meilhac

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Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children.

Paul Bastard, Tom Le Voyer, Quentin Philippot, Jérémie Rosain, Lucy Bizien, Mélanie Migaud, Romain Levy, Pierre Quartier, Bertrand Boisson, Vivien Beziat, Shen-Ying Zhang, Bénédicte Neven, Laurent Abel , Emmanuelle Jouanguy, Qian Zhang, Anne Puel, Aurélie Cobat, Jean-Laurent CASANOVA , Laurent Abel , Paul Bastard, Jean-Laurent CASANOVA , Aurélie Cobat, Emmanuelle Jouanguy, Anne Puel, Qian Zhang, Shen-Ying Zhang

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Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndrome.

Quentin Hennocq, Jeanne Amiel, Tania Attié-Bitach, Thomas Bongibault, Valérie Cormier-Daire, Maxime Douillet, Stanislas Lyonnet, Marlène Rio, Nicolas Garcelon

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Identifying interindividual variability of social perception and associated brain anatomical correlations in children with autism spectrum disorder using eye-tracking and diffusion tensor imaging MRI (DTI-MRI).

Alice Vinçon-Leite, Ana Saitovitch, Hervé Lemaître, Elza Rechtman, Jennifer Boisgontier, Ludovic Fillon, Anne Philippe , Marlène Rio, Aurélie Fabre, Khawla Aljabali, Nathalie Boddaert, Monica Zilbovicius

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Progress and harmonization of gene editing to treat human diseases: Proceeding of COST Action CA21113 GenE-HumDi.

Annarita Miccio

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TUBB4B variants specifically impact ciliary function, causing a ciliopathic spectrum

Jeanne Amiel, Jean-Michel Rozet, Jean-Michel Rozet

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Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.

Peng Zhang, Aurélie Cobat, Bertrand Boisson, Qian Zhang, Stéphanie Boisson-Dupuis, Laurent Abel , Jean-Laurent CASANOVA

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Identification of Greb1l as a genetic determinant of crisscross heart in mice showing torsion of the heart tube by shortage of progenitor cells.

Ségolène Bernheim , Emeline Perthame, Audrey Desgrange, Cindy Michel, Laurent GUILLEMOT, Damien Bonnet, Sigolène Meilhac

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Hemifacial myohyperplasia is due to somatic muscular PIK3CA gain-of-function mutations and responds to pharmacological inhibition.

Charles BAYARD, Maxime Taverne, Quentin Hennocq, Michael Dussiot

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TUBB4B variants specifically impact ciliary function, causing a ciliopathic spectrum

Jeanne Amiel, Jean-Michel Rozet, Jean-Michel Rozet

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medRxiv

Jeanne Amiel, Pierre David, Nathalie Boddaert, Jean-Michel Rozet

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medRxiv

Jeanne Amiel, Pierre David, Nathalie Boddaert, Jean-Michel Rozet

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Identification of Greb1l as a genetic determinant of crisscross heart in mice showing torsion of the heart tube by shortage of progenitor cells.

Ségolène Bernheim , Emeline Perthame, Audrey Desgrange, Cindy Michel, Laurent GUILLEMOT, Damien Bonnet, Sigolène Meilhac

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Autoantibodies neutralizing type I IFNs underlie West Nile virus encephalitis in ∼40% of patients.

Astrid Marchal, Tom Le Voyer, Quentin Philippot, Jérémie Rosain, Lucy Bizien, Emmanuelle Jouanguy, Paul Bastard, Anne Puel, Laurent Abel , Aurélie Cobat, Shen-Ying Zhang, Jean-Laurent CASANOVA

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