Markus Stümm

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

Bassoon, a Novel Zinc-finger CAG/Glutamine-repeat Protein Selectively Localized at the Active Zone of Presynaptic Nerve Terminals

Susannetom Dieck, Lydia Sanmartı́-Vila, Kristina Langnaese et al. · The Journal of Cell Biology · 1998 · 479 citations · Full text

Warsaw Breakage Syndrome, a Cohesinopathy Associated with Mutations in the XPD Helicase Family Member DDX11/ChlR1

Petra van der Lelij, Krystyńa Chrzańowska, Barbara C. Godthelp et al. · The American Journal of Human Genetics · 2010 · 270 citations · Full text

Mendelian Disorder, Warsaw Breakage Syndrome, Genetic Disorder +9

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