Raymonda Varon

Nibrin, a Novel DNA Double-Strand Break Repair Protein, Is Mutated in Nijmegen Breakage Syndrome

Raymonda Varon, Christine Vissinga, Matthias Platzer et al. · Cell · 1998 · 1.1K citations · Full text

Is Mutated, Chromatin, Genome Instability +10

DNA Ligase IV Mutations Identified in Patients Exhibiting Developmental Delay and Immunodeficiency

Mark O’Driscoll, Karen Cerosaletti, Pierre-M Girard et al. · Molecular Cell · 2001 · 535 citations · Full text

Primary Immunodeficiency, Genome Instability, Genetic Disorder +10

Human RAD50 Deficiency in a Nijmegen Breakage Syndrome-like Disorder

Regina Waltes, Reinhard Kalb, Magtouf Gatei et al. · The American Journal of Human Genetics · 2009 · 258 citations · Full text

Human Rad50 Deficiency, Autoimmune Disease, Genetic Disorder +3

Fatal Cardiac Arrhythmia and Long-QT Syndrome in a New Form of Congenital Generalized Lipodystrophy with Muscle Rippling (CGL4) Due to PTRF-CAVIN Mutations

Anna Rajab, Volker Straub, Liza McCann et al. · PLoS Genetics · 2010 · 236 citations · Full text

Heart Failure, Muscle Rippling, Pathology +18

Seckel syndrome exhibits cellular features demonstrating defects in the ATR-signalling pathway

Gemma Alderton, Hans Joenje, Raymonda Varon et al. · Human Molecular Genetics · 2004 · 174 citations · Full text

Genetics, Cytoskeleton, Cell Cycle +19