Heterozygous APOE Christchurch in familial Alzheimer’s disease without mutations in other Mendelian genes von Hernandez, Isabel, Gelpi, Ellen, Molina‐Porcel, Laura, Bernal, Sara, Rodríguez‐Santiago, Benjamín, Dols‐Icardo, Oriol, Ruiz, Agustín, Alcolea, Daniel, Boada, Mercè, Lleó, Alberto, Clarimón, Jordi

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CRISPR Screens in Synthetic Lethality and Combinatorial Therapies for Cancer von Castells-Roca, Laia, Tejero, Eudald, Rodríguez-Santiago, Benjamín, Surrallés, Jordi

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A case report of PHF6 mosaicism: Beyond the classic Börjeson‐Forssman‐Lehmann syndrome von Garcia‐Melendo, Cristina, Roé, Esther, Rodríguez‐Santiago, Benjamín, Amat‐Samaranch, Victòria, Cubiró, Xavier, Puig, Lluís, Boronat, Susana

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Autosomal dominant oculoauriculovertebral spectrum and 14q23.1 microduplication von Ballesta-Martínez, Maria Juliana, López-González, Vanesa, Dulcet, Lluis Armengol, Rodríguez-Santiago, Benjamín, Garcia-Miñaúr, Sixto, Guillen-Navarro, Encarna

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NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine von Abulí, Anna, Boada, Montserrat, Rodríguez-Santiago, Benjamín, Coroleu, Buenaventura, Veiga, Anna, Armengol, Lluís, Barri, Pedro N., Pérez-Jurado, Luis A., Estivill, Xavier

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Arterial tortuosity syndrome: Phenotypic features and cardiovascular manifestations in 4 newly identified patients von Esmel-Vilomara, Roger, Valenzuela, Irene, Riaza, Lucía, Rodríguez-Santiago, Benjamín, Rosés-Noguer, Ferran, Boronat, Susana, Sabaté-Rotés, Anna

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Assessment of copy number variation using the Illumina Infinium 1M SNP-array: a comparison of methodological approaches in the Spanish Bladder Cancer/EPICURO study von Marenne, Gaëlle, Rodríguez-Santiago, Benjamín, Closas, Montserrat García, Pérez-Jurado, Luis, Rothman, Nathaniel, Rico, Daniel, Pita, Guillermo, Pisano, David G, Kogevinas, Manolis, Silverman, Debra T, Valencia, Alfonso, Real, Francisco X, Chanock, Stephen J, Génin, Emmanuelle, Malats, Núria

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Further delineation of the phenotype caused by loss of function mutations in PRMT7 von Valenzuela, Irene, Segura-Puimedon, Maria, Rodríguez-Santiago, Benjamín, Fernández-Alvarez, Paula, Vendrell, Teresa, Armengol, Lluís, Tizzano, Eduardo

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Novel Somatic Genetic Variants as Predictors of Resistance to EGFR-Targeted Therapies in Metastatic Colorectal Cancer Patients von Riera, Pau, Rodríguez-Santiago, Benjamín, Lasa, Adriana, Gonzalez-Quereda, Lidia, Martín, Berta, Salazar, Juliana, Sebio, Ana, Virgili, Anna C., Minguillón, Jordi, Camps, Cristina, Surrallés, Jordi, Páez, David

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Expression of mitochondrial genes and transcription estimation in different brain areas in Alzheimer's disease patients von Rodríguez-Santiago, Benjamín, Nunes, Virginia

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Erratum to: The UBC-40 Urothelial Bladder Cancer Cell Line Index: a genomic resource for functional studies von Earl, Julie, Rico, Daniel, Carrillo-de-Santa-Pau, Enrique, Rodríguez-Santiago, Benjamín, Méndez-Pertuz, Marinela, Auer, Herbert, Gómez, Gonzalo, Grossman, H Barton, Pisano, David G, Schulz, Wolfgang A, Pérez-Jurado, Luis A, Carrato, Alfredo, Theodorescu, Dan, Chanock, Stephen, Valencia, Alfonso, Real, Francisco X

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A Novel Recurrent Breakpoint Responsible for Rearrangements in the Williams-Beuren Region von Plaja, Alberto, Castells, Neus, Cueto-González, Anna M., del Campo, Miguel, Vendrell, Teresa, Lloveras, Elisabet, Izquierdo, Luis, Borregan, Mar, Rodríguez-Santiago, Benjamín, Carrió, Anna, Miró, Rosa, Tizzano, Eduardo

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A founder variant in the RYR1 gene is associated with hyperCKemia, myalgia and muscle cramps von Segarra‐Casas, Alba, Iruzubieta, Pablo, Kapetanovic, Solange, Hernández‐Laín, Aurelio, Jericó, Ivonne, Fernández‐Torrón, Roberto, Maneiro, Miren, Marco‐Moreno, Pablo, Zelaya‐Huerta, M. Victoria, Rodríguez‐Santiago, Benjamín, Calafell, Francesc, Töpf, Ana, Straub, Volker, Vallejo‐Illarramendi, Ainara, López de Munain, Adolfo, Gallano, Pia, Gonzalez‐Quereda, Lidia

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Novel genes involved in severe early-onset obesity revealed by rare copy number and sequence variants von Serra-Juhé, Clara, Martos-Moreno, Gabriel Á, Bou de Pieri, Francesc, Flores, Raquel, González, Juan R, Rodríguez-Santiago, Benjamín, Argente, Jesús, Pérez-Jurado, Luis A

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Mosaic loss of chromosome Y is associated with common variation near TCL1A von Zhou, Weiyin, Machiela, Mitchell J, Freedman, Neal D, Rothman, Nathaniel, Malats, Nuria, Dagnall, Casey, Caporaso, Neil, Teras, Lauren T, Gaudet, Mia M, Gapstur, Susan M, Stevens, Victoria L, Jacobs, Kevin B, Sampson, Joshua, Albanes, Demetrius, Weinstein, Stephanie, Virtamo, Jarmo, Berndt, Sonja, Hoover, Robert N, Black, Amanda, Silverman, Debra, Figueroa, Jonine, Garcia-Closas, Montserrat, Real, Francisco X, Earl, Julie, Marenne, Gaelle, Rodriguez-Santiago, Benjamin, Karagas, Margaret, Johnson, Alison, Schwenn, Molly, Wu, Xifeng, Gu, Jian, Ye, Yuanqing, Hutchinson, Amy, Tucker, Margaret, Perez-Jurado, Luis A, Dean, Michael, Yeager, Meredith, Chanock, Stephen J

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The UBC-40 Urothelial Bladder Cancer cell line index: a genomic resource for functional studies von Earl, Julie, Rico, Daniel, Carrillo-de-Santa-Pau, Enrique, Rodríguez-Santiago, Benjamín, Méndez-Pertuz, Marinela, Auer, Herbert, Gómez, Gonzalo, Grossman, Herbert Barton, Pisano, David G, Schulz, Wolfgang A, Pérez-Jurado, Luis A, Carrato, Alfredo, Theodorescu, Dan, Chanock, Stephen, Valencia, Alfonso, Real, Francisco X

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Reversible mitochondrial respiratory chain impairment during symptomatic hyperlactatemia associated with antiretroviral therapy von MIRO, Oscar, LOPEZ, Sonia, CARDELLACH, Francesc, MARTINEZ, Esteban, RODRIGUEZ-SANTIAGO, Benjamin, BLANCO, José L, MILINKOVIC, Ana, MIRO, Jose M, NUNES, Virginia, CASADEMONT, Jordi, GATELL, Josep M

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Mosaic Uniparental Disomies and Aneuploidies as Large Structural Variants of the Human Genome von Rodríguez-Santiago, Benjamín, Malats, Núria, Rothman, Nathaniel, Armengol, Lluís, Garcia-Closas, Montse, Kogevinas, Manolis, Villa, Olaya, Hutchinson, Amy, Earl, Julie, Marenne, Gaëlle, Jacobs, Kevin, Rico, Daniel, Tardón, Adonina, Carrato, Alfredo, Thomas, Gilles, Valencia, Alfonso, Silverman, Debra, Real, Francisco X., Chanock, Stephen J., Pérez-Jurado, Luis A.

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Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat von Font-Llitjós, Mariona, Rodríguez-Santiago, Benjamín, Espino, Meritxell, Sillué, Ruth, Mañas, Sandra, Gómez, Laia, Pérez-Jurado, Luis A, Palacín, Manuel, Nunes, Virginia

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A fast and accurate method to detect allelic genomic imbalances underlying mosaic rearrangements using SNP array data von González, Juan R, Rodríguez-Santiago, Benjamín, Cáceres, Alejandro, Pique-Regi, Roger, Rothman, Nathaniel, Chanock, Stephen J, Armengol, Lluís, Pérez-Jurado, Luis A

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