Newborn screening of duchenne muscular dystrophy specifically targeting deletions amenable to exon-skipping therapy by Pablo Beckers, Jean-Hubert Caberg, Vinciane Dideberg, Tamara Dangouloff, Johan T. den Dunnen, Vincent Bours, Laurent Servais, François Boemer

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Novel Loss of Function Variant in BCKDK Causes a Treatable Developmental and Epileptic Encephalopathy by François Boemer, Claire Josse, Géraldine Luis, Emmanuel Di Valentin, Jérôme Thiry, Christophe Cello, Jean-Hubert Caberg, Caroline Dadoumont, Julie Harvengt, Aimé Lumaka, Vincent Bours, François-Guillaume Debray

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Pattern of congenital heart diseases in Rwandan children with genetic defects by Raissa Teteli, Annette Uwineza, Yvan Butera, Janvier Hitayezu, Seraphine Murorunkwere, Lamberte Umurerwa, Janvier Ndinkabandi, Anne-Cécile Hellin, Mauricette Jamar, Jean-Hubert Caberg, Narcisse Muganga, Joseph Mucumbitsi, Emmanuel Kamanzi Rusingiza, Leon Mutesa

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