Publications and ressources

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

Laurent Abel

Source : Proc. Natl. Acad. Sci. U.S.A.

2020 juin 3

Pmid : 32487729

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

Source : J. Pediatr.

2020 mai 15

Pmid : 32423680

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

Sophie Thomas

Source : Am. J. Hum. Genet.

2020 mai 15

Pmid : 32413283

Inherited human IFN-γ deficiency underlies mycobacterial disease.

Jacinta Bustamante

Source : J. Clin. Invest.

2020 mai 11

Pmid : 32163377

Kinesin-1 regulates antigen cross-presentation through the scission of tubulations from early endosomes in dendritic cells.

Gaël Ménasché

Source : Nat Commun

2020 avr 23

Pmid : 32286311

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

Source : Sci Rep

2020 avr 20

Pmid : 32286406

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

Source : Blood

2020 avr 15

Pmid : 32040546

Kinesin-1 regulates antigen cross-presentation through the scission of tubulations from early endosomes in dendritic cells.

Meriem Belabed, Mathieu Kurowska, Alain Fischer, Geneviève de Saint Basile, Fernando Sepulveda , Gaël Ménasché

Source : Nat Commun

2020 avr 14

Pmid : 32286311

Does Hydroxychloroquine Combat COVID-19? A Timeline of Evidence.

Source : J. Am. Acad. Dermatol.

2020 avr 13

Pmid : 32283236

Efficacy of ruxolitinib in subcutaneous panniculitis-like T-cell lymphoma and hemophagocytic lymphohistiocytosis.

Romain Levy, Frédéric Guérin, Despina Moshous, Alain Fischer, Geneviève de Saint Basile, Fernando Sepulveda , Bénédicte Neven

Source : Blood Adv

2020 avr 9

Pmid : 32271897

Standardised imaging pipeline for phenotyping mouse laterality defects and associated heart malformations, at multiple scales and multiple stages.

Audrey Desgrange, Sigolène Meilhac

Source : Dis Model Mech

2020 mar 17

Pmid : 31208960

Mutations in the MRPS28 gene encoding the small mitoribosomal subunit protein bS1m in a patient with intrauterine growth retardation, craniofacial dysmorphism and multisystemic involvement.

Benedetta RUZZENENTE, Lucas BIANCHI, Arnold Munnich, Agnès Rötig, Metodi METODIEV

Source : Hum. Mol. Genet.

2020 mar 11

Pmid : 30566640

Editing a γ-globin repressor binding site restores fetal hemoglobin synthesis and corrects the sickle cell disease phenotype.

Annarita Miccio

Source : Sci Adv

2020 mar 5

Pmid : 32095533

Central nervous system complications in adult cystinosis patients.

Nathalie Boddaert

Source : J. Inherit. Metab. Dis.

2020 mar 3

Pmid : 31444911

Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder.

Nathalie Boddaert

Source : Mol Autism

2020 mar 2

Pmid : 31406558