Novel KIT mutation presenting as marked lentiginosis von Tran, Alain K., Pearce, Annette, López‐Sánchez, Marcos, Pérez‐Jurado, Luis A., Barnett, Christopher

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A Humanized Yeast Model for Studying TRAPP Complex Mutations; Proof-of-Concept Using Variants from an Individual with a TRAPPC1 -Associated Neurodevelopmental Syndrome von Zykaj, Erta, Abboud, Chelsea, Asadi, Paria, Warsame, Simane, Almousa, Hashem, Milev, Miroslav P, Greco, Brittany M, López-Sánchez, Marcos, Bratkovic, Drago, Kachroo, Aashiq H, Pérez-Jurado, Luis Alberto, Sacher, Michael

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Detectable clonal mosaicism in blood as a biomarker of cancer risk in Fanconi anemia von Reina-Castillón, Judith, Pujol, Roser, López-Sánchez, Marcos, Rodríguez-Santiago, Benjamín, Aza-Carmona, Miriam, González, Juan Ramón, Casado, José Antonio, Bueren, Juan Antonio, Sevilla, Julián, Badel, Isabel, Català, Albert, Beléndez, Cristina, Dasí, María Ángeles, Díaz de Heredia, Cristina, Soulier, Jean, Schindler, Detlev, Pérez-Jurado, Luis Alberto, Surrallés, Jordi

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scoreInvHap: Inversion genotyping for genome-wide association studies von Ruiz-Arenas, Carlos, Cáceres, Alejandro, López-Sánchez, Marcos, Tolosana, Ignacio, Pérez-Jurado, Luis, González, Juan R

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Circular DNA intermediates in the generation of large human segmental duplications von Chicote, Javier U, López-Sánchez, Marcos, Marquès-Bonet, Tomàs, Callizo, José, Pérez-Jurado, Luis A, García-España, Antonio

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MADloy: robust detection of mosaic loss of chromosome Y from genotype-array-intensity data von González, Juan Ramón, López Sánchez, Marcos, 1986, Cáceres, Alejandro, Puig, Pere, Esko, Tõnu, Pérez Jurado, Luis Alberto

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ScoreInvHap: inversion genotyping for genome-wide association studies von Ruiz-Arenas, Carlos, Cáceres, Alejandro, López Sánchez, Marcos, 1986, Tolosana, Ignacio, Pérez Jurado, Luis Alberto, González Ruiz, Juan Ramón

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Circular DNA intermediates in the generation of large human segmental duplications von Chicote, Javier U, López Sánchez, Marcos, 1986, Marquès i Bonet, Tomàs, 1975, Callizo, José, Pérez Jurado, Luis Alberto, García-España, Antonio

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Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases von Bullich, Gemma, Matalonga, Leslie, Pujadas, Montserrat, Papakonstantinou, Anastasios, Piscia, Davide, Tonda, Raúl, Artuch, Rafael, Gallano, Pia, Garrabou, Glòria, González, Juan R, Grinberg, Daniel, Guitart, Míriam, Laurie, Steven, Lázaro, Conxi, Luengo, Cristina, Martí, Ramon, Milà, Montserrat, Ovelleiro, David, Parra, Genís, Pujol, Aurora, Tizzano, Eduardo, Macaya, Alfons, Palau, Francesc, Ribes, Antònia, Pérez-Jurado, Luis A, Beltran, Sergi

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A humanized yeast model for studying TRAPP complex mutations; proof-of-concept using variants from an individual with a TRAPPC1-associated neurodevelopmental syndrome von Zykaj, Erta, Abboud, Chelsea, Asadi, Paria, Warsame, Simane, Almousa, Hashem, Milev, Miroslav P, Greco, Brittany M, López Sánchez, Marcos, 1986, Bratkovic, Drago, Kachroo, Aashiq H, Pérez Jurado, Luis Alberto, Sacher, Michael

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Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements von Demaerel, Wolfram, Hestand, Matthew S, Vergaelen, Elfi, Swillen, Ann, López-Sánchez, Marcos, Pérez-Jurado, Luis A, McDonald-McGinn, Donna M, Zackai, Elaine, Emanuel, Beverly S, Morrow, Bernice E, Breckpot, Jeroen, Devriendt, Koenraad, Vermeesch, Joris

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Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements von Demaerel, Wolfram, Hestand, Matthew S, Vergaelen, Elfi, Swillen, Ann, López-Sánchez, Marcos, Pérez-Jurado, Luis A, McDonald-McGinn, Donna M, Zackai, Elaine, Emanuel, Beverly S, Morrow, Bernice E, Breckpot, Jeroen, Devriendt, Koenraad, Vermeesch, Joris

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MADloy: robust detection of mosaic loss of chromosome Y from genotype-array-intensity data von González, Juan R, López-Sánchez, Marcos, Cáceres, Alejandro, Puig, Pere, Esko, Tonu, Pérez-Jurado, Luis A

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Polymorphic Inversions Underlie the Shared Genetic Susceptibility of Obesity-Related Diseases von González, Juan R., Ruiz-Arenas, Carlos, Cáceres, Alejandro, Morán, Ignasi, López-Sánchez, Marcos, Alonso, Lorena, Tolosana, Ignacio, Guindo-Martínez, Marta, Mercader, Josep M., Esko, Tonu, Torrents, David, González, Josefa, Pérez-Jurado, Luis A.

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Contribution of unexplored genomic variations to neurodevelopmental disorders von López Sánchez, Marcos

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Additional file 1 of Circular DNA intermediates in the generation of large human segmental duplications von Chicote, Javier U., López-Sánchez, Marcos, Marquès-Bonet, Tomàs, Callizo, José, Pérez-Jurado, Luis A., García-España, Antonio

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Detectable clonal mosaicism in blood as a biomarker of cancer risk in Fanconi anemia von Reina Castillon, Judith, Pujol, Roser, López Sánchez, Marcos, Rodríguez Santiago, Benjamín, Aza-Carmona, Miriam, González, Juan Ramón, Casado, José Antonio, Bueren, Juan Antonio, Sevilla, Julián, Badell Serra, Isabel, Català, Albert, Belendez, Cristina, Dasi, María Ángeles, Díaz de Heredia, Cristina, Soulier, Jean, Schindler, Detlev, Pérez Jurado, Luis, Surrallés, Jordi

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MADloy : robust detection of mosaic loss of chromosome Y from genotype-array-intensity data von González, Juan R, López-Sánchez, Marcos, Cáceres, Alejandro, Puig, Pedro, Esko, Tõnu, Pérez-Jurado, Luis Alberto

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MADloy : robust detection of mosaic loss of chromosome Y from genotype-array-intensity data von González, Juan Ramón, López-Sánchez, Marcos, Cáceres, Alejandro, Puig, Pedro, Esko, Tõnu, Pérez-Jurado, Luis Alberto

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Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases von Bullich, Gemma, Pujadas, Montserrat, Papakonstantinou, Anastasios, Piscia, Davide, Tonda, Raúl, Artuch, R, Gallano, Pia, Garrabou, Glòria, González, Juan R, Grinberg, Daniel, Guitart, Míriam, Laurie, Steven, Lázaro, Conxi, Luengo, Cristina, Martí, Ramon, Ovelleiro, David, Parra, Genís, Pujol, Aurora, Tizzano, Eduardo, Macaya Ruiz, Alfons, Palau, Francesc, Ribes, Antònia, Pérez-Jurado, Luis A, Beltran, Sergi, Schlüter, Agatha, Rodriguez-Palmero, Agustí, Cáceres, Alejandro, García-Cazorla, Àngels, Cueto-González, Anna, Marcé-Grau, Anna, Ruiz Nel Lo, Anna, Martínez-Monseny, Antonio, García, Belén, Pérez-Dueñas, Belén, Gel, Bernat, Fusté, Berta, Hernández-Ferrer, Carles, Casasnovas, Carlos, Ortez, Carlos, Arjona, César, Hernando-Davalillo, Cristina, Natera de Benito, Daniel, Picó Amador, Daniel, Gómez-Andrés, David, Yubero, Délia, Pelegrí-Sisó, Dolors, Verdura, Edgard, García-Arumí, Elena, Castellanos, Elisabeth, Gabau, Elisabeth, Tobías, Ester, López-Grondona, Fermina, Cardellach, Francesc, Garcia-Garcia, Francesc Josep, Munell, Francina, Tort, Frederic, Aznar, Gemma, Olivé-Cirera, Gemma, Tell, Gemma, Muñoz-Pujol, Gerard, Paramonov, Ida, Blanco, Ignacio, Madrigal, Irene, Valenzuela, Irene, Gut, Ivo, Cusco, Ivon, Trotta, Jean-Rémi, Cruz, Jordi, Diaz-Manera, Jordi, Milisenda, José César, Ma Grau, Josep, Garcia-Villoria, Judit, Armstrong, Judith, Cantó, Judith, Rodríguez-Revenga, Laia, Alias, Laura, Gort, Laura, González-Quereda, Lídia, Costa, Mar, Fernández-Callejo, Marcos, López-Sánchez, Marcos, Serrano, Mercedes, Raspall-Chaure, Miquel, Del Toro, Mireia, Bayés, Mònica, Baena Díez, Neus, Spataro, Nino, Capdevila, Núria, Ugarteburu, Olatz, Muñoz-Cabello, Patricia, Romero Duque, Penélope, Rabionet, Raquel, Rojas-García, Ricardo, Calvo-Escalona, Rosa, Urreizti, Roser, Bernal, Sara, Boronat, Susana, Balcells, Susanna, Vendrell, Teresa, Universitat Autònoma de Barcelona

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