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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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Kremen1-induced cell death is regulated by homo- and heterodimerization.

Frédéric Causeret, Alessandra Pierani

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Depdc5 knockdown causes mTOR-dependent motor hyperactivity in zebrafish.

Sorana CIURA

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Regulator of telomere length 1 (RTEL1) mutations are associated with heterogeneous pulmonary and extra-pulmonary phenotypes.

Patrick Revy

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Ex Vivo COL7A1 Correction for Recessive Dystrophic Epidermolysis Bullosa Using CRISPR/Cas9 and Homology-Directed Repair.

Alain Hovnanian

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Homozygosity for TYK2 P1104A underlies tuberculosis in about 1% of patients in a cohort of European ancestry.

Laurent Abel , Gaspard Kerner, Aurélie Cobat

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A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon.

Jacinta Bustamante , Jean-Laurent CASANOVA , Laurent Abel

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CDG: An Online Server for Detecting Biologically Closest Disease-Causing Genes and its Application to Primary Immunodeficiency.

Laurent Abel

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Kaposi sarcoma, oral malformations, mitral dysplasia, and scoliosis associated with 7q34-q36.3 heterozygous terminal deletion.

Jean-Laurent CASANOVA

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BRIP1 coding variants are associated with a high risk of hepatocellular carcinoma occurrence in patients with HCV- or HBV-related liver disease.

Laurent Abel

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A novel genetic architecture of infectious diseases.

Laurent Abel

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Gene transfer into hematopoietic stem cells reduces HLH manifestations in a murine model of Munc13-4 deficiency.

Isabelle André, Marina Cavazzana, Geneviève de Saint Basile, Fernando Sepulveda

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An Optimized Lentiviral Vector Efficiently Corrects the Human Sickle Cell Disease Phenotype.

Annarita Miccio

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Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy.

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