Publications and ressources

Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness.

Isabelle Perrault, Marlène Rio, Nathalie Boddaert, Rima NABBOUT, Giulia Barcia, Arnold Munnich, Jean-Michel Rozet

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Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness.

Marlène Rio, Nathalie Boddaert, Rima NABBOUT, Giulia Barcia, Arnold Munnich, Jean-Michel Rozet

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Myhre syndrome.

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RAS-associated lymphoproliferative disease evolves into severe juvenile myelo-monocytic leukemia.

Frédéric Rieux-Laucat

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Transgenic kallikrein 5 mice reproduce major cutaneous and systemic hallmarks of Netherton syndrome.

Alain Hovnanian

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CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration.

Vincent Cantagrel

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Recombination-activating gene 1 (Rag1)-deficient mice with severe combined immunodeficiency treated with lentiviral gene therapy demonstrate autoimmune Omenn-like syndrome.

Chantal LAGRESLE-PEYROU, Marina Cavazzana

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XYLT1 mutations in Desbuquois dysplasia type 2.

Céline Huber, Patrick Nitschké, Arnold Munnich, Valérie Cormier-Daire

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XYLT1 mutations in Desbuquois dysplasia type 2.

Céline Huber, Patrick Nitschké, Arnold Munnich, Valérie Cormier-Daire

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Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears.

Jeanne Amiel, Stanislas Lyonnet, Patrick Nitschké, Chris Gordon

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Recurrent mutations in epigenetic regulators, RHOA and FYN kinase in peripheral T cell lymphomas.

Lucile Couronné

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A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium.

Sophie Thomas, Jeanne Amiel, Jean-Laurent CASANOVA , Nathalie Boddaert, Stanislas Lyonnet, Arnold Munnich, Lydie Burglen, Sophie Saunier, Tania Attié-Bitach

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Graded defects in cytotoxicity determine severity of hemophagocytic lymphohistiocytosis in humans and mice.

Geneviève de Saint Basile, Fernando Sepulveda

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Diagnosis of autoimmune lymphoproliferative syndrome caused by FAS deficiency in adults.

Frédéric Rieux-Laucat

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WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia.

Céline Huber, Geneviève Baujat, Kim-Hanh Le Quan Sang, Arnold Munnich, Valérie Cormier-Daire

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