Publications and ressources

Reduced recruitment of 53BP1 during interstrand crosslink repair is associated with genetically inherited attenuation of mitomycin C sensitivity in a family with Fanconi anemia.

Jean-Pierre De Villartay

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Chromosomal Translocation Formation Is Sufficient to Produce Fusion Circular RNAs Specific to Patient Tumor Cells.

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PROMIDISα: A T-cell receptor α signature associated with immunodeficiencies caused by V(D)J recombination defects.

Jean-Pierre De Villartay

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EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome.

Patrick Revy, Jean-Pierre De Villartay, Christine Bole, Patrick Nitschké

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Somatic genetic rescue in Mendelian haematopoietic diseases.

Patrick Revy, Alain Fischer

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Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome.

Géraldine Mollet, Corinne Antignac, Christelle Arrondel, Olivier Gribouval, Olivia Boyer

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PAXX and Xlf interplay revealed by impaired CNS development and immunodeficiency of double KO mice.

Jean-Pierre De Villartay

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Single-Molecule Analysis of mtDNA Replication Uncovers the Basis of the Common Deletion.

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