Publications and ressources

SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects.

Johanne Dubail, Céline Huber, Jeanne Amiel, Arnold Munnich, Muriel de la Dure-Molla, Valérie Cormier-Daire, Chris Gordon

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Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome.

Bénédicte Neven

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Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease.

Marlène Rio, Sophie Thomas, Tania Attié-Bitach, Jean-Michel Rozet

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Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease.

Marlène Rio, Sophie Thomas, Tania Attié-Bitach, Jean-Michel Rozet

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Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease.

Isabelle PERRAULT, Marlène Rio, Sophie Thomas, Tania Attié-Bitach, Jean-Michel Rozet

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Cortical developmental death: selected to survive or fated to die.

Alessandra Pierani, Frédéric Causeret

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Hemophagocytic syndrome: primary forms and predisposing conditions.

Fernando Sepulveda , Geneviève de Saint Basile

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What's up in the ALPS.

Frédéric Rieux-Laucat

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Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140.

Isabelle PERRAULT, Sophie Saunier, Jean-Michel Rozet

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Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis.

Lucile Boutaud, Sophie Thomas, Tania Attié-Bitach

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A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.

Matias Simons, Corinne Antignac, Christine Bole

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Microdeletion on chromosome 8p23.1 in a familial form of severe Buruli ulcer.

Alexandre Alcaïs

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Enhanced Abventricular Proliferation Compensates Cell Death in the Embryonic Cerebral Cortex.

Alessandra Pierani

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Next Generation Phenotyping Using Narrative Reports in a Rare Disease Clinical Data Warehouse

Nicolas Garcelon, Hassan Faour

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A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies.

Sophie Saunier

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