Publications and ressources

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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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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Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine.

Jeanne Amiel, Chris Gordon

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Improving the diagnostic efficiency of primary immunodeficiencies with targeted next-generation sequencing.

Jérémie Rosain, Brigitte Bader-Meunier, Olivier Hermine, Felipe Suarez, Isabelle André, Vivien Beziat, Geneviève de Saint Basile, Jean-Pierre De Villartay, Sven KRACKER, Chantal LAGRESLE-PEYROU, Sylvain Latour, Frédéric Rieux-Laucat, Christine Bole, Patrick Nitschké, Alain Fischer, Despina Moshous, Bénédicte Neven, Alexandre Alcaïs, Jacinta Bustamante

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Bi-allelic pathogenic variations in DNAJB11 cause Ivemark II syndrome, a renal-hepatic-pancreatic dysplasia.

Christelle Arrondel, Tania Attié-Bitach, Corinne Antignac, Sophie Saunier, Laurence Heidet

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Improving the diagnostic efficiency of primary immunodeficiencies with targeted next-generation sequencing.

Jérémie Rosain, Brigitte Bader-Meunier, Olivier Hermine, Felipe Suarez, Isabelle André, Vivien Beziat, Geneviève de Saint Basile, Jean-Pierre De Villartay, Sven KRACKER, Chantal LAGRESLE-PEYROU, Sylvain Latour, Frédéric Rieux-Laucat, Christine Bole, Patrick Nitschké, Alain Fischer, Despina Moshous, Bénédicte Neven, Alexandre Alcaïs, Jacinta Bustamante

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Genome Editing for β-Hemoglobinopathies: Advances and Challenges.

Giacomo Frati, Annarita Miccio

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Deep phenotyping unstructured data mining in an extensive pediatric database to unravel a common KCNA2 variant in neurodevelopmental syndromes.

Giulia Barcia, Nicolas Garcelon, Edor Kabashi, Rima NABBOUT

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