Resources

U-Net: deep learning for cell counting, detection, and morphometry.

Matias Simons

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Extracellular Pax6 Regulates Tangential Cajal-Retzius Cell Migration in the Developing Mouse Neocortex.

Alessandra Pierani

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Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study.

Michel Polak, Jacques Beltrand

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Autoimmune Lymphoproliferative Syndrome-FAS Patients Have an Abnormal Regulatory T Cell (Treg) Phenotype but Display Normal Natural Treg-Suppressive Function on T Cell Proliferation.

Frédéric Rieux-Laucat

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Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency.

Jean-Laurent CASANOVA

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Induction of fetal hemoglobin synthesis by CRISPR/Cas9-mediated editing of the human β-globin locus.

Annarita Miccio , Tristan Felix

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Dynamic Formation of Microvillus Inclusions During Enterocyte Differentiation in Munc18-2-Deficient Intestinal Organoids.

Fernando Sepulveda , Geneviève de Saint Basile

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Self-Awareness: Nucleic Acid-Driven Inflammation and the Type I Interferonopathies.

Alice Lepelley, Yanick Crow

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ATP6AP2 functions as a V-ATPase assembly factor in the endoplasmic reticulum.

Matias Simons

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The copy number variation landscape of congenital anomalies of the kidney and urinary tract.

Cécile Jeanpierre

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Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome.

Geneviève de Saint Basile, Fernando Sepulveda , Bénédicte Neven, Alain Fischer, Frédéric Guérin

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Pediatric-onset Evans syndrome: Heterogeneous presentation and high frequency of monogenic disorders including LRBA and CTLA4 mutations.

Frédéric Rieux-Laucat

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Mitochondrial double-stranded RNA triggers antiviral signalling in humans.

Agnès Rötig, Arnold Munnich, Manuel SCHIFF

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Intestinal-Cell Kinase and Juvenile Myoclonic Epilepsy.

Rima NABBOUT

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Efficacy of Ruxolitinib Therapy in a Patient With Severe Enterocolitis Associated With a STAT3 Gain-of-Function Mutation.

Nadine CERF-BENSUSSAN

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