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Raymonda Varon

Nibrin, a Novel DNA Double-Strand Break Repair Protein, Is Mutated in Nijmegen Breakage Syndrome
1998 · Raymonda Varon, Christine Vissinga, et al. · Cell · 1,079
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DNA Ligase IV Mutations Identified in Patients Exhibiting Developmental Delay and Immunodeficiency
2001 · Mark O'Driscoll, Karen M. Cerosaletti, et al. · Molecular Cell · 548
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Human RAD50 Deficiency in a Nijmegen Breakage Syndrome-like Disorder
2009 · Regina Waltes, Reinhard Kalb, et al. · The American Journal of Human Genetics · 264
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Fatal Cardiac Arrhythmia and Long-QT Syndrome in a New Form of Congenital Generalized Lipodystrophy with Muscle Rippling (CGL4) Due to PTRF-CAVIN Mutations
2010 · Anna Rajab, Volker Straub, et al. · PLoS Genetics · 237
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Seckel syndrome exhibits cellular features demonstrating defects in the ATR-signalling pathway
2004 · Gemma K. Alderton, Hans Joenje, et al. · Human Molecular Genetics · 176
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1)
2003 · Katja Grohmann, Raymonda Varon, et al. · Annals of Neurology · 174
Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations
2000 · Raymonda Varon, Eva Seemanova, et al. · European Journal of Human Genetics · 153
Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome
2003 · Raymonda Varon, Rebecca Gooding, et al. · Nature Genetics · 149
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification
2019 · Michael T. Parsons, Emma Tudini, et al. · Human Mutation · 145
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Nijmegen Breakage Syndrome mutations and risk of breast cancer
2007 · Natalia Bogdanova, Sergei Feshchenko, et al. · International Journal of Cancer · 139
Increased cancer risk of heterozygotes with NBS1 germline mutations in poland
2004 · Jan Steffen, Raymonda Varon, et al. · International Journal of Cancer · 129
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A genetic variant in the pre-miR-27a oncogene is associated with a reduced familial breast cancer risk
2009 · Rongxi Yang, Bettina Schlehe, et al. · Breast Cancer Research and Treatment · 121
Mutations in the Nijmegen Breakage Syndrome gene (NBS1) in childhood acute lymphoblastic leukemia (ALL).
2001 · R Varon, A Reis, et al. · PubMed · 114
Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader?Willi syndrome
2004 · Maren Runte, Raymonda Varon, et al. · Human Genetics · 98
Cancer Risk of Heterozygotes With the NBN Founder Mutation
2007 · E. Seemanova, P. Jarolim, et al. · JNCI Journal of the National Cancer Institute · 93
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Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability
2005 · E Seemanová, K Sperling, et al. · Journal of Medical Genetics · 86
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Fatal toxicity following radio‐ and chemotherapy of medulloblastoma in a child with unrecognized Nijmegen Breakage Syndrome
2003 · Luitpold Distel, Susann Neubauer, et al. · Medical and Pediatric Oncology · 86
Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP
2011 · F. Ropers, E. Derivery, et al. · Human Molecular Genetics · 82
Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis
2007 · Ulf-Peter Guenther, Raymonda Varon, et al. · Human Mutation · 82
Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure
2007 · Bernd Gruhn, Joerg Seidel, et al. · Orphanet Journal of Rare Diseases · 79
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Radiosensitivity of Ataxia Telangiectasia and Nijmegen Breakage Syndrome Homozygotes and Heterozygotes as Determined by Three-Color FISH Chromosome Painting
2002 · Susann Neubauer, Rouben Arutyunyan, et al. · Radiation Research · 78
An inducible null mutant murine model of Nijmegen breakage syndrome proves the essential function of NBS1 in chromosomal stability and cell viability
2004 · Ilja Demuth, Pierre-Olivier Frappart, et al. · Human Molecular Genetics · 76
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The Natural Course of Infantile Spinal Muscular Atrophy With Respiratory Distress Type 1 (SMARD1)
2011 · Maria Eckart, Ulf-Peter Guenther, et al. · PEDIATRICS · 75
Long-Term Observations of Patients with Infantile Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1)
2004 · S. Rudnik-Schöneborn, P. Stolz, et al. · Neuropediatrics · 71
The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?
2016 · Eva Seemanova, Raymonda Varon, et al. · PLoS ONE · 68
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Works count: 113
Citation count: 5,394
H-index: 35
I10-index: 57
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