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• Comprehensive analysis and ACMG‐based classification of CHEK2 variants in hereditary cancer patients

  Data: 09/09/2020
  

  Human Mutation

  https://doi.org/10.1002/humu.24110

  Comprehensive analysis and ACMG‐based classification of CHEK2 variants in hereditary cancer patients

  Gardenia Vargas‐Parra, Jesús del Valle, Paula Rofes, Mireia Gausachs, Agostina Stradella, José M. Moreno‐Cabrera, Angela Velasco, Eva Tornero, Mireia Menéndez, Xavier Muñoz, Silvia Iglesias, Adriana López‐Doriga, Daniel Azuara, Olga Campos, Raquel Cuesta, Esther Darder, Rafael de Cid, Sara González, Alex Teulé, Matilde Navarro, Joan Brunet, Gabriel Capellá, Marta Pineda, Lídia Feliubadaló, Conxi Lázaro 

  https://onlinelibrary.wiley.com/doi/epdf/10.1002/humu.24110

  Descarregar (PDF 232,13 Kb)

• Immune Cell Associations with Cancer Risk

  Data: 24/07/2020
  

  iScience

  doi: 10.1016/j.isci.2020.101296

  Immune Cell Associations with Cancer Risk

  Luis Palomero, Ivan Galvan-Femenıa, Rafael de Cid, Roderic Espın, Daniel R. Barnes, CIMBA, Eline Blommaert, Miguel Gil-Gil, Catalina Falo, Agostina Stradella, Dan Ouchi, Albert Roso-Llorach, Concepcio Violan, Marıa Pen a-Chilet, Joaquın Dopazo, Ana Isabel Extremera, Mar Garcıa-Valero, Carmen Herranz, Francesca Mateo, Elisabetta Mereu, Jonathan Beesley, Georgia Chenevix-Trench, Cecilia Roux, Tak Mak, Joan Brunet, Razq Hakem, Chiara Gorrini, Antonis C. Antoniou,, * Conxi Lazaro, * and Miquel Angel Pujana

  https://pubmed.ncbi.nlm.nih.gov/32622267/

  Descarregar (PDF 7,37 Mb)

• Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients

  Data: 30/03/2020
  

  Cancers

  https://doi.org/10.3390/cancers12040829

  Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients. Jesús del Valle, Paula Rofes, José Marcos Moreno-Cabrera, Adriana López-Dóriga, Sami Belhadj, Gardenia Vargas-Parra, Àlex Teulé, Raquel Cuesta, Xavier Muñoz, Olga Campos, Mónica Salinas, Rafael de Cid, Joan Brunet, Sara González, Gabriel Capellá, Marta Pineda, Lídia Feliubadaló and Conxi Lázaro.

  https://www.mdpi.com/2072-6694/12/4/829

  Descarregar (PDF 723,44 Kb)

• ADAR1 function affects HPV replication and is associated to recurrent human papillomavirus-induced dysplasia in HIV coinfected individuals

  Data: 27/12/2019
  

  Nature Scientific Reports

  https://doi.org/10.1038/s41598-019-56422-x

  ADAR1 function affects HPV replication and is associated to recurrent human papillomavirus-induced dysplasia in HIV coinfected individuals. Maria Pujantell, Roger Badia, Iván Galván-Femenía, Edurne Garcia-Vidal, Rafael de Cid, Carmen Alcalde, Antonio Tarrats, Marta Piñol, Francesc Garcia, Ana M. Chamorro, Boris Revollo, Sebastian Videla, David Parés, Javier Corral, Cristina Tural, Guillem Sirera, José A. Esté*, Ester Ballana* & Eva Riveira-Muñoz.

  https://www.nature.com/articles/s41598-019-56422-x

  Descarregar (PDF 1,32 Mb)

• Assessment of kinship detection using RNA-seq data

  Data: 10/09/2019
  

  Nucleic Acids Research

  https://doi.org/10.1093/nar/gkz776

  Assessment of kinship detection using RNA-seq data. Natalia Blay, Eduard Casas, Iván Galván-Femenía, Jan Graffelman, Rafael de Cid, Tanya Vavouri

  https://academic.oup.com/nar/advance-article/doi/10.1093/nar/gkz776/5566588

  Descarregar (PDF 3,11 Mb)

• A Log-Ratio Biplot Approach for Exploring Genetic Relatedness Based on Identity by State

  Data: 24/04/2019
  

  Frontiers in Genetics

  doi.org/10.3389/fgene.2019.00341

  A Log-Ratio Biplot Approach for Exploring Genetic Relatedness Based on Identity by State. Jan Graffelman, Iván Galván Femenía, Rafael de Cid and Carles Barceló Vidal

  https://www.frontiersin.org/articles/10.3389/fgene.2019.00341/full

  Descarregar (PDF 6,06 Mb)

• Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort

  Data: 21/07/2018
  

  Journal of Medical Genetics

  doi: 10.1136/jmedgenet-2018-105437

  Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort. Iván Galván-Femenía, Mireia Obón-Santacana, David Piñeyro, Marta Guindo-Martinez, Xavier Duran, Anna Carreras, Raquel Pluvinet, Juan Velasco, Laia Ramos, Susanna Aussó, Lluis Puig, Manuel Perucho, David Torrents, Victor Moreno, Lauro Sumoy, Rafael de Cid

  https://jmg.bmj.com/content/early/2018/08/30/jmedgenet-2018-105437

  This paper contibuted to the work done by the MEGA-EX Consortium

  https://www.pagestudy.org/index.php/multi-ethnic-genotyping-array

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• Disease networks identify specific conditions and pleiotropy influencing multimorbidity in the general population

  Data: 29/10/2018
  

  Scientific Reports

  doi:10.1038/s41598-018-34361-3

  Disease networks identify specific conditions and pleiotropy influencing multimorbidity in the general population. A. Amell, A. Roso-Llorach, L. Palomero, D. Cuadras, I. Galván-Femenía, J. Serra-Musach, F. Comellas, R. de Cid, M. A. Pujana & C. Violán

  https://www.nature.com/articles/s41598-018-34361-3

  Descarregar (PDF 6,58 Mb)

• ADAR1 affects HCV infection by modulating innate immune response

  Data: 16/06/2018
  

  Antiviral Research

  doi: 10.1016/j.antiviral.2018.05.012

  ADAR1 affects HCV infection by modulating innate immune response. Maria Pujantell, Sandra Franco, Iván Galván-Femenía, Roger Badia, Marc Castellví, Edurne Garcia-Vidal, Bonaventura Clotet, Rafael de Cid, Cristina Tural, Miguel A. Martínez, Eva Riveira-Muñoz, José A. Esté, Ester Ballana

  https://www.sciencedirect.com/science/article/pii/S0166354218301876

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• Genomic profiling in advanced stage non-small-cell lung cancer patients with platinum-based chemotherapy identifies germline variants with prognostic value in SMYD2

  Data: 19/02/2018
  

  Cancer Treatment and Research Communications

  2018. doi: 10.1016/j.ctarc.2018.02.003

  Genomic profiling in advanced stage non-small-cell lung cancer patients with platinum-based chemotherapy identifies germline variants with prognostic value in SMYD2. Galván-Femenía I, Guindo M, Duran X, Calabuig-Fariñas S, Mercader JM, Ramirez JL, Rosell R, Torrents D, Carreras A, Kohno T, Jantus-Lewintre E, Camps C, Perucho M, Sumoy L, Yokota J, de Cid R.

  https://www.sciencedirect.com/science/article/pii/S246829421730120X?via%3Dihub

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