Sandra Bonache

Sandra Bonache

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Sandra Bonache

Sandra Bonache

Publications by authors named "Sandra Bonache"

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BRCA1- and BRCA2-specific in silico tools for variant interpretation in the CAGI 5 ENIGMA challenge.

Hum Mutat 2019 09 3;40(9):1593-1611. Epub 2019 Jul 3.

Research Unit in Clinical and Translational Bioinformatics, Vall d'Hebron Institute of Research (VHIR). Universitat Autònoma de Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1002/humu.23802DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6744361PMC
September 2019

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

RAD51C germline mutations found in Spanish site-specific breast cancer and breast-ovarian cancer families.

Breast Cancer Res Treat 2014 Aug 3;147(1):133-43. Epub 2014 Aug 3.

Fundación Pública Galega de Medicina Xenómica-Servicio Galego de Saúde, Grupo de Medicina Xenómica-Universidade de Santiago de Compostela, Spanish Network on Rare Diseases (CIBERER), Instituto de Investigaciones Sanitarias de Santiago, Santiago de Compostela, A Coruña, Spain.

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http://dx.doi.org/10.1007/s10549-014-3078-4DOI Listing
August 2014

Mutation analysis of the BCCIP gene for breast cancer susceptibility in breast/ovarian cancer families.

Gynecol Oncol 2013 Nov 31;131(2):460-3. Epub 2013 Jul 31.

Oncogenetics Laboratory, Vall d'Hebron Institute of Oncology (VHIO), Universitat Autonoma de Barcelona, Barcelona, Spain; Oncogenetics Laboratory, Vall d'Hebron Research Institute (VHIR), Universitat Autonoma de Barcelona, Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.ygyno.2013.07.104DOI Listing
November 2013

Epigenetic disruption of the PIWI pathway in human spermatogenic disorders.

PLoS One 2012 24;7(10):e47892. Epub 2012 Oct 24.

Cancer Epigenetics and Biology Program, Bellvitge Biomedical Research Institute, 08908 L'Hospitalet de Llobregat, Barcelona, Catalonia, Spain.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0047892PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3480440PMC
April 2013

Mutation analysis of the SHFM1 gene in breast/ovarian cancer families.

J Cancer Res Clin Oncol 2013 Mar 1;139(3):529-32. Epub 2013 Feb 1.

Oncogenetics Laboratory, Vall d'Hebron Institute of Oncology, Universitat Autonoma de Barcelona, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain.

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http://dx.doi.org/10.1007/s00432-013-1385-5DOI Listing
March 2013

Sperm gene expression profile is related to pregnancy rate after insemination and is predictive of low fecundity in normozoospermic men.

Hum Reprod 2012 Jun 23;27(6):1556-67. Epub 2012 Mar 23.

Human Molecular Genetics Group, Bellvitge Biomedical Research Institute, Barcelona, Spain.

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http://dx.doi.org/10.1093/humrep/des074DOI Listing
June 2012

Changes in the expression profile of the meiosis-involved mismatch repair genes in impaired human spermatogenesis.

J Androl 2010 Jul-Aug;31(4):346-57. Epub 2010 Jan 14.

Medical and Molecular Genetics Center-Fundació IDIBELL, L'Hospitalet de Llobregat, Barcelona, Spain.

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http://dx.doi.org/10.2164/jandrol.109.008805DOI Listing
January 2011

Mutations of SYCP3 are rare in infertile Spanish men with meiotic arrest.

Fertil Steril 2007 Oct 16;88(4):988-9. Epub 2007 Apr 16.

Medical and Molecular Genetics Center-Fundació IDIBELL, L'Hospitalet de Llobregat, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.fertnstert.2006.11.163DOI Listing
October 2007

Single nucleotide polymorphisms in succinate dehydrogenase subunits and citrate synthase genes: association results for impaired spermatogenesis.

Int J Androl 2007 Jun 12;30(3):144-52. Epub 2007 Feb 12.

Medical and Molecular Genetics Centre-IDIBELL, L'Hospitalet de Llobregat, Barcelona, Spain.

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http://dx.doi.org/10.1111/j.1365-2605.2006.00730.xDOI Listing
June 2007

Spectrum of mutations in CFTR in Finland: 18 years follow-up study and identification of two novel mutations.

J Cyst Fibros 2005 Dec 26;4(4):233-7. Epub 2005 Jul 26.

Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, 00014 Helsinki, Finland.

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http://dx.doi.org/10.1016/j.jcf.2005.06.002DOI Listing
December 2005