Resources

DEF6 deficiency, a mendelian susceptibility to EBV infection, lymphoma and autoimmunity.

Sylvain Latour

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Successful Preclinical Development of Gene Therapy for Recombinase-Activating Gene-1-Deficient SCID.

Chantal LAGRESLE-PEYROU, Marina Cavazzana

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Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.

Olivier Pellé, Michel Polak, Nathalie Boddaert, Nadia Bahi-Buisson, Jean-Michel Rozet, Isabelle PERRAULT

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Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.

Michel Polak, Nathalie Boddaert, Nadia Bahi-Buisson, Jean-Michel Rozet

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Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes.

Laurent Abel , Jean-Laurent CASANOVA , Antonio Rausell

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From Dysgammaglobulinemia to Autosomal-Dominant Activation-Induced Cytidine Deaminase Deficiency: Unraveling an Inherited Immunodeficiency after 50 Years.

Loïc CHENTOUT, Bertrand Boisson, Aurore POULIET, Anne DURANDY, Jean-Laurent CASANOVA , Sven KRACKER

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Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling.

Sophie Thomas, Chris Gordon

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Inherited human IFN-γ deficiency underlies mycobacterial disease.

Jacinta Bustamante

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Fgfr3 Is a Positive Regulator of Osteoblast Expansion and Differentiation During Zebrafish Skull Vault Development.

Emilie Dambroise, Ghaith ABDESSALEM, Marine LUKA, Laurence Legeai-Mallet , Mickaël Ménager

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Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development.

Lydie Burglen

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GATA Factor-Mediated Gene Regulation in Human Erythropoiesis.

Oriana Romano, Tristan Felix, Vasco Meneghini, Chiara Antoniani, Annarita Miccio

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Topoisomerase 2β mutation impairs early B-cell development.

Olivier Hermine, Alain Fischer, Anne DURANDY, Sven KRACKER

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Neural basis of interindividual variability in social perception in typically developing children and adolescents using diffusion tensor imaging.

Ana Saitovitch, Nathalie Boddaert, Monica Zilbovicius , Alice Vinçon-Leite, Hervé Lemaître, Elza Rechtman, Ludovic Fillon

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NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal-Hreidarsson syndrome.

Laëtitia Kermasson, Chantal LAGRESLE-PEYROU, Emmanuelle Ollivier, Alicia Fernandes, Jean-Pierre De Villartay, Patrick Revy

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Clonal tracking in gene therapy patients reveals a diversity of human hematopoietic differentiation programs

Emmanuelle SIX, Adeline DENIS, Marianne DELVILLE, Steicy SOBRINO, Isabelle André, Marina Cavazzana

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