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

Raymonda Varon, Christine Vissinga, Matthias Platzer, +16

Cell

Is MutatedChromatinGenome InstabilityGenetic DisorderNatural Sciences +8

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

Mark O’Driscoll, Karen Cerosaletti, Pierre-M Girard, +13

Molecular Cell

Primary ImmunodeficiencyGenome InstabilityGenetic DisorderMedicineGenetics +8

Human RAD50 Deficiency in a Nijmegen Breakage Syndrome-like Disorder

Regina Waltes, Reinhard Kalb, Magtouf Gatei, +9

The American Journal of Human Genetics

Human Rad50 DeficiencyAutoimmune DiseaseGenetic DisorderPathologyDegenerative Disease +1

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, +10

PLoS Genetics

Heart FailureMuscle RipplingPathologyCongenital Heart AnomalyOsteoporosis +16

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

Gemma Alderton, Hans Joenje, Raymonda Varon, +3

Human Molecular Genetics

GeneticsCytoskeletonCell CycleEpigeneticsCellular Physiology +17

Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1)

Katja Grohmann, Raymonda Varon, Piroschka Stolz, +22

Annals of Neurology

Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations

Raymonda Varon, E Seemanová, Krystyńa Chrzańowska, +6

European Journal of Human Genetics

Mendelian DisorderGenetic DisorderGeneticsPathogenesisGenetic Epidemiology +6

Large scale multifactorial likelihood quantitative analysis of <i>BRCA1</i> and <i>BRCA2</i> variants: An ENIGMA resource to support clinical variant classification

Michael T. Parsons, Emma Tudini, Hongyan Li, +214

Human Mutation

GeneticsGenetic EpidemiologyPathologyMultifactorial Likelihood AnalysisDisease Gene Identification +23

Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome

Raymonda Varon, Rebecca Gooding, Christina Steglich, +23

Nature Genetics

Partial DeficiencyOcular DiseaseOphthalmologyRna Polymerase IiGenetic Disorder +7

Nijmegen Breakage Syndrome mutations and risk of breast cancer

Natalia Bogdanova, Sergei Feshchenko, Peter Schürmann, +10

International Journal of Cancer

Genome InstabilityBreast OncologyNbs MutationsBreast Cancer SusceptibilityGenetic Disorder +8