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    • Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort study 

      Jouret, G.; Heide, S.; Sorlin, A.; Faivre, L.; Chantot-Bastaraud, S.; Beneteau, C.; Denis-Musquer, M.; Turnpenny, P. D.; Coutton, C.; Vieville, G.; Thevenon, J.; Larson, A.; Petit, F.; Boudry, E.; Smol, T.; Delobel, B.; Duban-Bedu, B.; Fallerini, C.; Mari, F.; Lo Rizzo, C.; Renieri, A.; Caberg, J. H.; Denommé-Pichon, A. S.; Tran Mau-Them, F.; Maystadt, I.; Courtin, T.; Keren, B.; Mouthon, L.; Charles, P.; Cuinat, S.; Isidor, B.; Theis, P.; Müller, C.; Kulisic, M.; Türkmen, S.; Stieber, D.; Bourgeois, D.; Scalais, E.; Klink, B. (Wiley, 2022-08-01)
      BRD4 is part of a multiprotein complex involved in loading the cohesin complex onto DNA, a fundamental process required for cohesin-mediated loop extrusion and formation of Topologically Associating Domains. Pathogenic ...