Publications and ressources

Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series.

Blaise Didry-Barca, Luís Seabra, Mélanie Parisot, Patrick Nitschké, Isabelle Melki, Marie-Louise Frémond, Marie-Therese El-Daher, Alice Lepelley

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Chloride deregulation and GABA depolarization in MTOR-related malformations of cortical development.

Giulia Barcia, Edor Kabashi, Rima NABBOUT, Sorana CIURA, Thomas Blauwblomme

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Next Generation Phenotyping and Synthetic Faces in Coffin Siris Syndrome.

Quentin Hennocq, Jeanne Amiel, Thomas Bongibault, Valérie Cormier-Daire, Stanislas Lyonnet, Marlène Rio, Nicolas Garcelon

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

Andrea Zanetti, Lucas FARES-TAIE, Jeanne Amiel, Pierre David, Nathalie Boddaert, Jean-Michel Rozet, Isabelle Perrault

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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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Modeling NK-cell lymphoma in mice reveals its cell-of-origin and microenvironmental changes and identifies therapeutic targets.

Raphaël Liévin, Olivier Hermine, Lucile Couronné

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Poly-GP accumulation due to C9orf72 loss of function induces motor neuron apoptosis through autophagy and mitophagy defects.

Hortense de Calbiac, Solene RENAULT, Grégoire Haouy, Maria-Letizia Campanari, Anca Marian, Chiara Guerrera, Sorana CIURA, Edor Kabashi

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Gain-of-function human UNC93B1 variants cause systemic lupus erythematosus and chilblain lupus.

Clémence David, Blaise Didry-Barca, Luís Seabra, Robin KECHICHE, Aurélie Cobat, Laurent Abel , Vivien Beziat, Damien Bonnet, Christine Bodemer, Brigitte Bader-Meunier, Jean-Laurent CASANOVA , Marie-Louise Frémond, Alice Lepelley

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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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Comprehensive Genetic Profiling Reveals Frequent Alterations of Driver Genes on the X Chromosome in Extranodal NK/T-cell Lymphoma.

Raphaël Liévin, Manon Vavasseur, Michael Dussiot, Isabelle André, Akshay JOSHI, Chantal LAGRESLE-PEYROU, Aude Magerus, Erika Brunet, Julien Rossignol, Felipe Suarez, Patrick Nitschké, Olivier Hermine, Lucile Couronné

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Anatomy and mobility in the adult cadaveric craniocervical junction.

Maxime Taverne, Roman Hossein Khonsari, Thomas Blauwblomme

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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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New diagnostic criteria for metopic ridges and trigonocephaly: a 3D geometric approach.

Maxime Taverne, Roman Hossein Khonsari

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

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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