Publications and ressources

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 Apr 9

Pmid : 32271897

Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism.

Céline Huber, Valérie Cormier-Daire

Source : Bone

2020 Apr 1

Pmid : 31923704

Homozygous Loss-of-Function Mutations in CCDC134 Are Responsible for a Severe Form of Osteogenesis Imperfecta.

Johanne Dubail, Geneviève Baujat, Céline Huber, Caroline Michot, Valérie Cormier-Daire

Source : J. Bone Miner. Res.

2020 Mar 17

Pmid : 32181939

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

Impaired lymphocyte function and differentiation in CTPS1-deficient patients result from a hypomorphic homozygous mutation.

Steicy SOBRINO, Alain Fischer, Sylvain Latour

Source : JCI Insight

2020 Mar 12

Pmid : 32161190

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, Ana Saitovitch, Corinne Antignac

Source : J. Inherit. Metab. Dis.

2020 Mar 3

Pmid : 31444911

Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome.

Céline Huber, Valérie Cormier-Daire

Source : J. Exp. Med.

2020 Mar 2

Pmid : 31914175

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

Nathalie Boddaert, Arnold Munnich

Source : Mol Autism

2020 Mar 2

Pmid : 31406558

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders.

Vincent Cantagrel

Source : Am. J. Hum. Genet.

2020 Feb 28

Pmid : 32109419

Primary immunodeficiencies reveal the molecular requirements for effective host defense against EBV infection.

Sylvain Latour

Source : Blood

2020 Feb 27

Pmid : 31942615

Posterior Fossa Arachnoid Cyst in a Pediatric Population is Associated with Social Perception and Rest Cerebral Blood Flow Abnormalities.

Monica Zilbovicius , Nathalie Boddaert, Ana Saitovitch

Source : Cerebellum

2020 Feb 26

Pmid : 31732920

A Comprehensive Map of the Monocyte-Derived Dendritic Cell Transcriptional Network Engaged upon Innate Sensing of HIV.

Mickaël Ménager

Source : Cell Rep

2020 Jan 22

Pmid : 31968263

Fatal Hypogammaglobulinemia 3 Years after Rituximab in a Patient with Immune Thrombocytopenia: An Underlying Genetic Predisposition?

Frédéric Rieux-Laucat

Source : Case Reports Immunol

2020 Jan 20

Pmid : 31956452