Resources

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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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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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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A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis.

Gaël Ménasché, Geneviève de Saint Basile, Alain Fischer, Fernando Sepulveda

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Update of Thyroid Developmental Genes.

Michel Polak, Athanasia Stoupa, Dulanjalee Kariyawasam, Aurore Carre

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Fibrillarin is essential for S-phase progression and neuronal differentiation in zebrafish dorsal midbrain and retina.

Emilie Dambroise

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Genotype-phenotype correlations in individuals with pathogenic RERE variants.

Marlène Rio, Nathalie Boddaert, Vincent Cantagrel

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A neuropathological study of novel RTTN gene mutations causing a familial microcephaly with simplified gyral pattern.

Lucile Boutaud, Sophie Thomas, Tania Attié-Bitach

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FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta.

Céline Huber, Caroline Michot, Arnold Munnich, Geneviève Baujat, Valérie Cormier-Daire

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Reply: The expanding neurological phenotype of DNM1L-related disorders.

Nathalie Boddaert, Marlène Rio, Jean-Michel Rozet

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FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta.

Céline Huber, Caroline Michot, Arnold Munnich, Geneviève Baujat, Valérie Cormier-Daire

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