Copy number variants and common disorders: filling the gaps and exploring complexity in genome-wide association studies. by Xavier Estivill, Lluís Armengol

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Correction: Nucleotide, Cytogenetic and Expression Impact of the Human Chromosome 8p23.1 Inversion Polymorphism. by Nina Bosch, Marta Morell, Immaculada Ponsa, Josep Maria Mercader, Lluís Armengol, Xavier Estivill

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Nucleotide, cytogenetic and expression impact of the human chromosome 8p23.1 inversion polymorphism. by Nina Bosch, Marta Morell, Immaculada Ponsa, Josep Maria Mercader, Lluís Armengol, Xavier Estivill

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Identification of copy number variants defining genomic differences among major human groups. by Lluís Armengol, Sergi Villatoro, Juan R González, Lorena Pantano, Manel García-Aragonés, Raquel Rabionet, Mario Cáceres, Xavier Estivill

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MLIP genotype as a predictor of pharmacological response in primary open-angle glaucoma and ocular hypertension by María I. Canut, Olaya Villa, Bachar Kudsieh, Heidi Mattlin, Isabel Banchs, Juan R. González, Lluís Armengol, Ricardo P. Casaroli-Marano

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VRK1 (Y213H) homozygous mutant impairs Cajal bodies in a hereditary case of distal motor neuropathy by Ana T. Marcos, Elena Martín‐Doncel, Patricia Morejón‐García, Iñigo Marcos‐Alcalde, Paulino Gómez‐Puertas, María Segura‐Puimedon, Lluis Armengol, José M. Navarro‐Pando, Pedro A. Lazo

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Advanced Optical Microscopy: Unveiling Functional Insights Regarding a Novel <i>PPP2R1A</i> Variant and Its Unreported Phenotype by Mònica Roldán, Gregorio Alexander Nolasco, Lluís Armengol, Marcos Frías, Marta Morell, Manel García-Aragonés, Florencia Epifani, Jordi Muchart, María Luisa Ramírez-Almaraz, Loreto Martorell, Cristina Hernando-Davalillo, Roser Urreizti, Mercedes Serrano

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Oligonucleotide arrays vs. metaphase-comparative genomic hybridisation and BAC arrays for single-cell analysis: first applications to preimplantation genetic diagnosis for Robertso... by Laia Ramos, Javier del Rey, Gemma Daina, Manel García-Aragonés, Lluís Armengol, Alba Fernandez-Encinas, Mònica Parriego, Montserrat Boada, Olga Martinez-Passarell, Maria Rosa Martorell, Oriol Casagran, Jordi Benet, Joaquima Navarro

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Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice by María Juliana Ballesta-Martínez, Virginia Pérez-Fernández, Vanesa López-González, María José Sánchez-Soler, Ana Teresa Serrano-Antón, Lidia Isolina Rodríguez-Peña, Maria Barreda-Sánchez, Lluís Armengol-Dulcet, Encarna Guillén-Navarro

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CERT1 mutations perturb human development by disrupting sphingolipid homeostasis by Charlotte Gehin, Museer A. Lone, Winston Lee, Laura Capolupo, Sylvia Ho, Adekemi M. Adeyemi, Erica H. Gerkes, Alexander P.A. Stegmann, Estrella López-Martín, Eva Bermejo-Sánchez, Beatriz Martínez-Delgado, Christiane Zweier, Cornelia Kraus, Bernt Popp, Vincent Strehlow, Daniel Gräfe, Ina Knerr, Eppie R. Jones, Stefano Zamuner, Luciano A. Abriata, Vidya Kunnathully, Brandon E. Moeller, Anthony Vocat, Samuel Rommelaere, Jean-Philippe Bocquete, Evelyne Ruchti, Greta Limoni, Marine Van Campenhoudt, Samuel Bourgeat, Petra Henklein, Christian Gilissen, Bregje W. van Bon, Rolph Pfundt, Marjolein H. Willemsen, Jolanda H. Schieving, Emanuela Leonardi, Fiorenza Soli, Alessandra Murgia, Hui Guo, Qiumeng Zhang, Kun Xia, Christina R. Fagerberg, Christoph P. Beier, Martin J. Larsen, Irene Valenzuela, Paula Fernández-Álvarez, Shiyi Xiong, Robert Śmigiel, Vanesa López-González, Lluís Armengol, Manuela Morleo, Angelo Selicorni, Annalaura Torella, Moira Blyth, Nicola S. Cooper, Valerie Wilson, Renske Oegema, Yvan Herenger, Aurore Garde, Ange-Line Bruel, Frederic Tran Mau-Them, Alexis B.R. Maddocks, Jennifer M. Bain, Musadiq A. Bhat, Gregory Costain, Peter Kannu, Ashish Marwaha, Neena L. Champaigne, Michael J. Friez, Ellen B. Richardson, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Yask Gupta, Tze Y. Lim, Simone Sanna-Cherchi, Bruno Lemaitre, Toshiyuki Yamaji, Kentaro Hanada, John E. Burke, Ana Marjia Jakšić, Brian D. McCabe, Paolo De Los Rios, Thorsten Hornemann, Giovanni D’Angelo, Vincenzo A. Gennarino

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