Associated Papers
Mutational analysis of consanguineous families and their targeted therapy against dwarfism.
Khan F et al.
Journal of Biomolecular Structure & Dynamics, 2025
XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches.
Cuinat S et al.
European Journal of Human Genetics : Ejhg, 2025
Clinical and genetic investigation of 14 families with various forms of short stature syndromes.
Khan FU et al.
Clinical Genetics, 2024
Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.
He J et al.
Frontiers in Genetics, 2024
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
Microarray screening reveals two non-conventional SUMO-binding modules linked to DNA repair by non-homologous end-joining.
Cabello-Lobato MJ et al.
Nucleic Acids Research, 2022
Feline XRCC4 undergoes rapid Ku-dependent recruitment to DNA damage sites.
Koike M et al.
Febs Open Bio, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Functional analysis of XRCC4 mutations in reported microcephaly and growth defect patients in terms of radiosensitivity.
Asa ADDC et al.
Journal of Radiation Research, 2021
Global non-covalent SUMO interaction networks reveal SUMO-dependent stabilization of the non-homologous end joining complex.
González-Prieto R et al.
Cell Reports, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Genomic and phenotypic delineation of congenital microcephaly.
Shaheen R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Mutations in XRCC4 cause primordial dwarfism without causing immunodeficiency.
Saito S et al.
Journal of Human Genetics, 2016
A nonsense mutation of human XRCC4 is associated with adult-onset progressive encephalocardiomyopathy.
Bee L et al.
Embo Molecular Medicine, 2015
Congenital defects in V(D)J recombination.
de Villartay JP
British Medical Bulletin, 2015
Mutations in the NHEJ component XRCC4 cause primordial dwarfism.
Murray JE et al.
American Journal of Human Genetics, 2015
Genomic analysis of primordial dwarfism reveals novel disease genes.
Shaheen R et al.
Genome Research, 2014