Publications and ressources

TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways.

Corinne Antignac, Guillaume Dorval, Olivier Gribouval, Olivia Boyer, Alexandre Benmerah , Géraldine Mollet

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Gamma-aminobutyric acidergic transmission underlies interictal epileptogenicity in pediatric focal cortical dysplasia.

Rima NABBOUT

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Comment on: Monogenic mimics of Behçet's disease in the young.

Serge Romana

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PROMIDISα: A T-cell receptor α signature associated with immunodeficiencies caused by V(D)J recombination defects.

Jean-Pierre De Villartay

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Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis.

Jean-Laurent CASANOVA

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Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis.

Jean-Laurent CASANOVA , Emmanuelle Jouanguy, Laurent Abel

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Severe influenza pneumonitis in children with inherited TLR3 deficiency.

Jean-Laurent CASANOVA

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Inherited IL-18BP deficiency in human fulminant viral hepatitis.

Jean-Laurent CASANOVA , Aurélie Cobat, Laurent Abel

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Gene therapy targeting haematopoietic stem cells for inherited diseases: progress and challenges.

Annarita Miccio , Emmanuelle SIX, Isabelle André, Marina Cavazzana

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A TP63 mutation causes prominent alopecia with mild ectodermal dysplasia.

Alain Hovnanian , Patrick Nitschké, Christine Bole

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Animal models of craniosynostosis.

Laurence Legeai-Mallet , Emilie Dambroise, Nabil Kaci

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Animal models of craniosynostosis.

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EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome.

Patrick Revy, Jean-Pierre De Villartay, Christine Bole, Patrick Nitschké

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Candidate Predisposition Variants in Kaposi Sarcoma as Detected by Whole-Genome Sequencing.

Jean-Laurent CASANOVA

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Urine-derived cells provide a readily accessible cell type for feeder-free mRNA reprogramming.

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