Resources

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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Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults.

Jean-Michel Rozet

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Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults.

Jean-Michel Rozet

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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.

Marina Cavazzana, Alain Fischer, Despina Moshous, Bénédicte Neven, Felipe Suarez, Sven KRACKER

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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.

Marina Cavazzana, Alain Fischer, Despina Moshous, Bénédicte Neven, Felipe Suarez, Sven KRACKER

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Constitutively-active FGFR3 disrupts primary cilium length and IFT20 trafficking in various chondrocyte models of achondroplasia.

Nabil Kaci, Meriem Garfa-Traoré , Emilie Dambroise, Laurence Legeai-Mallet

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Single-cell analysis reveals the continuum of human lympho-myeloid progenitor cells.

Emmanuelle SIX

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The most prevalent genetic cause of ALS-FTD, C9orf72 synergizes the toxicity of ATXN2 intermediate polyglutamine repeats through the autophagy pathway.

Edor Kabashi

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Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects.

Matias Simons

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