Publications and ressources

Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases.

Jérémie Rosain, Tom Le Voyer, Laura Polivka, Quentin Philippot, Lucy Bizien, Romain Levy, Soraya Boucherit, Anna-Lena Neehus, Mélanie Migaud, Capucine Picard , Claire Soudais, Shen-Ying Zhang, Nathalie Boddaert, Laurent Abel , Emmanuelle Jouanguy, Qian Zhang, Aurélie Cobat, Vivien Beziat, Bertrand Boisson, Julie STEFFANN, Jacinta Bustamante , Anne Puel, Paul Bastard, Jean-Laurent CASANOVA

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De novo monoallelic Reelin missense variants act in a dominant-negative manner causing neuronal migration disorders.

Martina Riva, Sofia Ferreira, Yoann Saillour, Vera Medvedeva, Frédéric Causeret, Nadia Bahi-Buisson, Alessandra Pierani

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Four Unique Genetic Variants in Three Genes Account for 62.7% of Early-Onset Severe Retinal Dystrophy in Chile: Diagnostic and Therapeutic Consequences.

Isabelle PERRAULT, Jean-Michel Rozet

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Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.

Jeanne Amiel, Jean-Michel Rozet, Isabelle PERRAULT

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

Annarita Miccio

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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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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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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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GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment

Andrea Zanetti, Jeanne Amiel, Pierre David, Nathalie Boddaert, Jean-Michel Rozet, Isabelle PERRAULT

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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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PCDH12 loss results in premature neuronal differentiation and impeded migration in a cortical organoid model.

Jean-Michel Rozet

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Sickle Cell Disease: From Genetics to Curative Approaches.

Giulia Hardouin, Marina Cavazzana, Annarita Miccio

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