Resources

Gene signature extraction and cell identity recognition at the single-cell level with Cell-ID.

Emmanuelle SIX, Antonio Rausell

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Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.

Stanislas Lyonnet, Jeanne Amiel, Chris Gordon

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Intestinal immunoregulation: lessons from human mendelian diseases.

Fabienne CHARBIT-HENRION, Marianna Parlato, Georgia MALAMUT, Frank RUEMMELE, Nadine CERF-BENSUSSAN

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Defective palmitoylation of transferrin receptor triggers iron overload in Friedreich ataxia fibroblasts.

Floriane PETIT, Michael Dussiot, Olivier Hermine, Arnold Munnich, Agnès Rötig

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Mortality and functional outcome after pediatric intracerebral hemorrhage: cohort study and meta-analysis.

Nicolas Garcelon, Nathalie Boddaert, Thomas Blauwblomme

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Auto-antibodies to type I IFNs can underlie adverse reactions to yellow fever live attenuated vaccine.

Paul Bastard, Tom Le Voyer, Jérémie Rosain, Quentin Philippot, Yoann Seeleuthner, Lucy Bizien, Maya Chrabieh, Vivien Beziat, Aurélie Cobat, Anne Puel, Shen-Ying Zhang, Laurent Abel , Qian Zhang, Emmanuelle Jouanguy, Jean-Laurent CASANOVA

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Differential Expression of Interferon-Alpha Protein Provides Clues to Tissue Specificity Across Type I Interferonopathies.

Isabelle Melki, Luís Seabra, Alice Lepelley, Brigitte Bader-Meunier, Thomas Blauwblomme, Romain Levy, Pierre Quartier, Bénédicte Neven, Marie-Louise Frémond

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MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.

Lydie Burglen

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STING-Mediated Lung Inflammation and Beyond.

Marie-Louise Frémond

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Integrative genetic and immune cell analysis of plasma proteins in healthy donors identifies novel associations involving primary immune deficiency genes

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Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative blood phenotype and developmental disorders.

Karine Siquier , Agnès Rötig, Stanislas Lyonnet, Giulia Barcia, Vincent Cantagrel, Olivier Hermine

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CNVxplorer: a web tool to assist clinical interpretation of CNVs in rare disease patients

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Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.

Jean-Michel Rozet

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Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans.

Thuy-Linh Le, Anna Pelet, Patrick Nitschké, Stanislas Lyonnet, Jeanne Amiel, Nadège Bondurand, Chris Gordon

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Correction of β-thalassemia by CRISPR/Cas9 editing of the α-globin locus in human hematopoietic stem cells.

Anne Chalumeau, Annarita Miccio

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