Publications and ressources

Impaired type I interferon activity and inflammatory responses in severe COVID-19 patients.

Jérome Hadjadj, Laura BARNABEI, Alain Fischer, Frédéric Rieux-Laucat

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Impaired type I interferon activity and inflammatory responses in severe COVID-19 patients.

Jérome Hadjadj, Laura BARNABEI, Alain Fischer, Frédéric Rieux-Laucat

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Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

Clémantine Dimartino, Mélanie Parisot, Patrick Nitschké, Véronique Pingault, Arnold Munnich, Valérie Cormier-Daire, Stanislas Lyonnet, Jeanne Amiel, Chris Gordon

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Generation of an induced pluripotent stem cell (iPSC) line (IMAGINi007) from a patient with steroid-resistant nephrotic syndrome carrying the homozygous p.R138Q mutation in the podocin-encoding NPHS2 gene.

Giulia Menara, Nathalie Lefort, Corinne Antignac, Géraldine Mollet

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Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.

Olivier Gribouval, Christelle Arrondel, Géraldine Mollet, Guillaume Dorval, Corinne Antignac

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

Sylvain Latour

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Targeted deep sequencing reveals clonal and subclonal mutational signatures in Adult T-cell leukemia/lymphoma and defines an unfavorable indolent subtype.

Felipe Suarez, Olivier Hermine

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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.

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

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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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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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