Publications by authors named "Raymonda Varon"

48Publications

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

Authors:
Michael T Parsons Emma Tudini Hongyan Li Eric Hahnen Barbara Wappenschmidt Lidia Feliubadaló Cora M Aalfs Simona Agata Kristiina Aittomäki Elisa Alducci María Concepción Alonso-Cerezo Norbert Arnold Bernd Auber Rachel Austin Jacopo Azzollini Judith Balmaña Elena Barbieri Claus R Bartram Ana Blanco Britta Blümcke Sandra Bonache Bernardo Bonanni Åke Borg Beatrice Bortesi Joan Brunet Carla Bruzzone Karolin Bucksch Giulia Cagnoli Trinidad Caldés Almuth Caliebe Maria A Caligo Mariarosaria Calvello Gabriele L Capone Sandrine M Caputo Ileana Carnevali Estela Carrasco Virginie Caux-Moncoutier Pietro Cavalli Giulia Cini Edward M Clarke Paola Concolino Elisa J Cops Laura Cortesi Fergus J Couch Esther Darder Miguel de la Hoya Michael Dean Irmgard Debatin Jesús Del Valle Capucine Delnatte Nicolas Derive Orland Diez Nina Ditsch Susan M Domchek Véronique Dutrannoy Diana M Eccles Hans Ehrencrona Ute Enders D Gareth Evans Chantal Farra Ulrike Faust Ute Felbor Irene Feroce Miriam Fine William D Foulkes Henrique C R Galvao Gaetana Gambino Andrea Gehrig Francesca Gensini Anne-Marie Gerdes Aldo Germani Jutta Giesecke Viviana Gismondi Carolina Gómez Encarna B Gómez Garcia Sara González Elia Grau Sabine Grill Eva Gross Aliana Guerrieri-Gonzaga Marine Guillaud-Bataille Sara Gutiérrez-Enríquez Thomas Haaf Karl Hackmann Thomas V O Hansen Marion Harris Jan Hauke Tilman Heinrich Heide Hellebrand Karen N Herold Ellen Honisch Judit Horvath Claude Houdayer Verena Hübbel Silvia Iglesias Angel Izquierdo Paul A James Linda A M Janssen Udo Jeschke Silke Kaulfuß Katharina Keupp Marion Kiechle Alexandra Kölbl Sophie Krieger Torben A Kruse Anders Kvist Fiona Lalloo Mirjam Larsen Vanessa L Lattimore Charlotte Lautrup Susanne Ledig Elena Leinert Alexandra L Lewis Joanna Lim Markus Loeffler Adrià López-Fernández Emanuela Lucci-Cordisco Nicolai Maass Siranoush Manoukian Monica Marabelli Laura Matricardi Alfons Meindl Rodrigo D Michelli Setareh Moghadasi Alejandro Moles-Fernández Marco Montagna Gemma Montalban Alvaro N Monteiro Eva Montes Luigi Mori Lidia Moserle Clemens R Müller Christoph Mundhenke Nadia Naldi Katherine L Nathanson Matilde Navarro Heli Nevanlinna Cassandra B Nichols Dieter Niederacher Henriette R Nielsen Kai-Ren Ong Nicholas Pachter Edenir I Palmero Laura Papi Inge Sokilde Pedersen Bernard Peissel Pedro Perez-Segura Katharina Pfeifer Marta Pineda Esther Pohl-Rescigno Nicola K Poplawski Berardino Porfirio Anne S Quante Juliane Ramser Rui M Reis Françoise Revillion Kerstin Rhiem Barbara Riboli Julia Ritter Daniela Rivera Paula Rofes Andreas Rump Monica Salinas Ana María Sánchez de Abajo Gunnar Schmidt Ulrike Schoenwiese Jochen Seggewiß Ares Solanes Doris Steinemann Mathias Stiller Dominique Stoppa-Lyonnet Kelly J Sullivan Rachel Susman Christian Sutter Sean V Tavtigian Soo H Teo Alex Teulé Mads Thomassen Maria Grazia Tibiletti Marc Tischkowitz Silvia Tognazzo Amanda E Toland Eva Tornero Therese Törngren Sara Torres-Esquius Angela Toss Alison H Trainer Katherine M Tucker Christi J van Asperen Marion T van Mackelenbergh Liliana Varesco Gardenia Vargas-Parra Raymonda Varon Ana Vega Ángela Velasco Anne-Sophie Vesper Alessandra Viel Maaike P G Vreeswijk Sebastian A Wagner Anke Waha Logan C Walker Rhiannon J Walters Shan Wang-Gohrke Bernhard H F Weber Wilko Weichert Kerstin Wieland Lisa Wiesmüller Isabell Witzel Achim Wöckel Emma R Woodward Silke Zachariae Valentina Zampiga Christine Zeder-Göß Conxi Lázaro Arcangela De Nicolo Paolo Radice Christoph Engel Rita K Schmutzler David E Goldgar Amanda B Spurdle

Hum Mutat 2019 09;40(9):1557-1578

Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.

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http://dx.doi.org/10.1002/humu.23818DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6772163PMC
September 2019

Yeast XRS2 and human NBN gene: Experimental evidence for homology using codon optimized cDNA.

PLoS One 2018 15;13(11):e0207315. Epub 2018 Nov 15.

Charité -Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Medical and Human Genetics, Berlin, Germany.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0207315PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6237358PMC
April 2019

Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP.

Hum Mol Genet 2011 Jul 15;20(13):2585-90. Epub 2011 Apr 15.

Department of Pediatrics and Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Augustenburgerplatz 1, Berlin, Germany.

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http://dx.doi.org/10.1093/hmg/ddr158DOI Listing
July 2011

A genetic variant in the pre-miR-27a oncogene is associated with a reduced familial breast cancer risk.

Breast Cancer Res Treat 2010 Jun 18;121(3):693-702. Epub 2009 Nov 18.

Helmholtz-University Group Molecular Epidemiology, German Cancer Research Center, DKFZ, Im Neuenheimer Feld 581, 69120 Heidelberg, Germany.

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http://link.springer.com/10.1007/s10549-009-0633-5
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http://dx.doi.org/10.1007/s10549-009-0633-5DOI Listing
June 2010

Novel mutation in the gamma-S crystallin gene causing autosomal dominant cataract.

Mol Vis 2009 4;15:476-81. Epub 2009 Mar 4.

Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, India.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2650718PMC
April 2009

A mutation in GJA8 (p.P88Q) is associated with "balloon-like" cataract with Y-sutural opacities in a family of Indian origin.

Mol Vis 2008 Jun 17;14:1171-5. Epub 2008 Jun 17.

Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, India.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2435161PMC
June 2008

A novel mutation in GJA8 associated with jellyfish-like cataract in a family of Indian origin.

Mol Vis 2008 Feb 9;14:323-6. Epub 2008 Feb 9.

Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, India.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2255026PMC
February 2008

Spinal muscular atrophy with respiratory distress type 1 (SMARD1).

J Child Neurol 2008 Feb;23(2):199-204

Department of Pediatric Neurology, Charité, University Medical Center, Berlin, Germany.

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http://dx.doi.org/10.1177/0883073807310989DOI Listing
February 2008

A recurrent FBN1 mutation in an autosomal dominant ectopia lentis family of Indian origin.

Mol Vis 2007 Oct 25;13:2035-40. Epub 2007 Oct 25.

Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, India.

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October 2007

Cancer risk of heterozygotes with the NBN founder mutation.

J Natl Cancer Inst 2007 Dec 11;99(24):1875-80. Epub 2007 Dec 11.

DrSc, Department of Clinical Genetics, Charles University Hospital, 2nd Medical School of Charles University, V úvalu 84, 150 06 Praha 5 Motol, Czech Republic.

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http://jnci.oxfordjournals.org/content/99/24/1875.full.pdf
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http://jnci.oxfordjournals.org/cgi/doi/10.1093/jnci/djm251
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http://dx.doi.org/10.1093/jnci/djm251DOI Listing
December 2007

A novel mutation in the connexin 46 (GJA3) gene associated with autosomal dominant congenital cataract in an Indian family.

Mol Vis 2007 Sep 11;13:1657-65. Epub 2007 Sep 11.

Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, India.

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http://www.molvis.org/molvis/v17/a151/mv-v17-a151-ding.pdf
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September 2007

Molecular genetic analysis of NBS1 in German melanoma patients.

Melanoma Res 2007 Apr;17(2):109-16

Institute of Human Genetics, Molecular Oncogenetics Unit, University Hospital, Tuebingen, Germany.

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http://dx.doi.org/10.1097/CMR.0b013e3280dec638DOI Listing
April 2007

Nijmegen breakage syndrome (NBS) due to maternal isodisomy of chromosome 8.

Am J Med Genet A 2007 Jan;143A(1):92-4

Institute of Human Genetics, Charité, Humboldt University, Berlin, Germany.

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http://dx.doi.org/10.1002/ajmg.a.31540DOI Listing
January 2007

Increased risk of gastrointestinal lymphoma in carriers of the 657del5 NBS1 gene mutation.

Int J Cancer 2006 Dec;119(12):2970-3

Department of Immunology, Maria Skłodowska-Curie Memorial Cancer Center and Institute of Oncology, Warsaw, Poland.

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http://dx.doi.org/10.1002/ijc.22280DOI Listing
December 2006

Cancer incidence in Nijmegen breakage syndrome is modulated by the amount of a variant NBS protein.

Carcinogenesis 2007 Jan 13;28(1):107-11. Epub 2006 Jul 13.

Institut für Humangenetik, Charité-Universitätsmedizin Berlin Campus-Virchow Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany.

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https://academic.oup.com/carcin/article-lookup/doi/10.1093/c
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http://dx.doi.org/10.1093/carcin/bgl126DOI Listing
January 2007

Genetic deafness in a preterm infant with a critical postnatal course.

Pediatr Crit Care Med 2006 May;7(3):270-2

Department of Neonatology, Charité, Campus Virchow-Klinikum, Humboldt University, Berlin, Germany.

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http://dx.doi.org/10.1097/01.PCC.0000216679.47571.DADOI Listing
May 2006

Mild Nijmegen breakage syndrome phenotype due to alternative splicing.

Hum Mol Genet 2006 Mar 13;15(5):679-89. Epub 2006 Jan 13.

Institute of Human Genetics, Charité, Humboldt University, Augustenburger Platz 1, 13353 Berlin, Germany.

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http://dx.doi.org/10.1093/hmg/ddi482DOI Listing
March 2006

Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader-Willi syndrome.

Hum Genet 2005 Feb 23;116(3):228-30. Epub 2004 Nov 23.

Institut für Humangenetik, Universitätsklinikum Essen, Hufelandstrasse 55, 45122, Essen, Germany.

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http://dx.doi.org/10.1007/s00439-004-1219-2DOI Listing
February 2005

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

Hum Mol Genet 2004 Dec 20;13(24):3127-38. Epub 2004 Oct 20.

Genome Damage and Stability Centre, University of Sussex, East Sussex, BN1 9RQ, UK.

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http://academic.oup.com/hmg/article/13/24/3127/709107/Seckel
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http://dx.doi.org/10.1093/hmg/ddh335DOI Listing
December 2004

An inducible null mutant murine model of Nijmegen breakage syndrome proves the essential function of NBS1 in chromosomal stability and cell viability.

Hum Mol Genet 2004 Oct 27;13(20):2385-97. Epub 2004 Aug 27.

Institut für Humangenetik, Charité Universitätsmedizin Berlin, Campus Virchow-Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany.

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http://dx.doi.org/10.1093/hmg/ddh278DOI Listing
October 2004

Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1.

Hum Genet 2004 Sep;115(4):319-26

Department of Neuropediatrics, Charité University Medical School of Berlin, Augustenburger Platz 1, 13353 Berlin, Germany.

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http://dx.doi.org/10.1007/s00439-004-1156-0DOI Listing
September 2004

SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome.

Hum Genet 2004 May 10;114(6):553-61. Epub 2004 Mar 10.

Institut für Humangenetik, Universitaetsklinikum Essen, Hufelandstrasse 55, 45122 Essen, Germany.

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http://dx.doi.org/10.1007/s00439-004-1104-zDOI Listing
May 2004

Retrospective diagnosis and subsequent prenatal diagnosis of Nijmegen breakage syndrome.

Prenat Diagn 2004 Feb;24(2):111-3

Institute of Human Genetics, Otto von Guericke University, Magdeburg, Germany.

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http://dx.doi.org/10.1002/pd.803DOI Listing
February 2004

Fatal toxicity following radio- and chemotherapy of medulloblastoma in a child with unrecognized Nijmegen breakage syndrome.

Med Pediatr Oncol 2003 Jul;41(1):44-8

Division of Radiobiology, Department of Radiation Oncology, University Erlangen-Nürnberg, Germany.

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http://dx.doi.org/10.1002/mpo.10275DOI Listing
July 2003

MR imaging features in Marinesco-Sjögren syndrome: severe cerebellar atrophy is not an obligatory finding.

AJNR Am J Neuroradiol 2003 May;24(5):825-8

Clinic for Pediatric Neurology, Institute for Human Genetics, Charité Campus Virchow, Berlin, Germany.

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http://www.ajnr.org/content/24/5/825.full.pdf
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May 2003

Nijmegen breakage syndrome gene (NBS1) is not the tumor suppressor gene at 8q21.3 involved in colorectal carcinoma.

Oncol Rep 2002 Jul-Aug;9(4):709-11

Institute of Human Genetics, Charite, Humboldt-University, Berlin, Germany.

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January 2003