Resources

STING-Mediated Lung Inflammation and Beyond.

Marie-Louise Frémond

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

Jean-Michel Rozet

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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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Disruption of pathways regulated by Integrator complex in Galloway-Mowat syndrome due to WDR73 mutations.

Frances Tilley

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Disruption of pathways regulated by Integrator complex in Galloway-Mowat syndrome due to WDR73 mutations.

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Genome editing approaches to β-hemoglobinopathies.

Mégane Brusson, Annarita Miccio

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Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic RPGRIP1 Pathologic Variant in the French Leber Congenital Amaurosis Cohort.

Isabelle PERRAULT, Mohammed ZARHRATE, Jean-Michel Rozet

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Oncogenetic landscape of lymphomagenesis in coeliac disease.

Sascha CORDING, Georgia MALAMUT, Sofia BERRABAH, Nicolas GUEGAN, Bertrand MERESSE, Michael Dussiot, Olivier Hermine, Nadine CERF-BENSUSSAN

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Adenylate kinase 2 expression and addiction in T-ALL.

Emmanuelle SIX, Chantal LAGRESLE-PEYROU

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