Publications and ressources

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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Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis.

Patrick Revy

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Using Drosophila nephrocytes in genetic kidney disease.

Matias Simons

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A Clinician Friendly Data Warehouse Oriented Toward Narrative Reports: Dr. Warehouse

Nicolas Garcelon, Hassan Faour, Arnold Munnich

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Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry

Sven KRACKER, Anne DURANDY, Marina Cavazzana

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Gene-corrected human Munc13-4-deficient CD8+ T cells can efficiently restrict EBV-driven lymphoproliferation in immunodeficient mice.

Chantal LAGRESLE-PEYROU, Geneviève de Saint Basile, Isabelle André, Marina Cavazzana

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No correlation between mtDNA amount and methylation levels at the CpG island of POLG exon 2 in wild-type and mutant human differentiated cells.

Julie STEFFANN, Agnès Rötig, Arnold Munnich, Jean Paul BONNEFONT

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Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.

Sandrine Marlin, Jean-Michel Rozet, Meriem Garfa-Traoré , Stanislas Lyonnet, Nathalie Boddaert

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