Targeting tryptophan and tyrosine metabolism by liquid chromatography tandem mass spectrometry
Marcos, Josep, Renau, Nuria, Valverde, Olga, Aznar-Laín, Gemma, Gracia-Rubio, Irene, Gonzalez-Sepulveda, Marta, Pérez-Jurado, Luis Alberto, Ventura, Rosa, Segura, Jordi, Pozo, Oscar J.
Published in Journal of Chromatography A (19.02.2016)
Published in Journal of Chromatography A (19.02.2016)
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Mosaic loss of chromosome Y is associated with common variation near TCL1A
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
Published in Nature genetics (01.05.2016)
Published in Nature genetics (01.05.2016)
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Gene‐specific facial dysmorphism in Axenfeld‐Rieger syndrome caused by FOXC1 and PITX2 variants
Souzeau, Emmanuelle, Siggs, Owen M., Pasutto, Francesca, Knight, Lachlan S. W., Perez‐Jurado, Luis A., McGregor, Lesley, Le Blanc, Shannon, Barnett, Christopher P., Liebelt, Jan, Craig, Jamie E.
Published in American journal of medical genetics. Part A (01.02.2021)
Published in American journal of medical genetics. Part A (01.02.2021)
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Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants
Kayumi, Sayaka, Pérez-Jurado, Luis A., Palomares, María, Rangu, Sneha, Sheppard, Sarah E., Chung, Wendy K., Kruer, Michael C., Kharbanda, Mira, Amor, David J., McGillivray, George, Cohen, Julie S., García-Miñaúr, Sixto, van Eyk, Clare L., Harper, Kelly, Jolly, Lachlan A., Webber, Dani L., Barnett, Christopher P., Santos-Simarro, Fernando, Pacio-Míguez, Marta, Pozo, Angela del, Bakhtiari, Somayeh, Deardorff, Matthew, Dubbs, Holly A., Izumi, Kosuke, Grand, Katheryn, Gray, Christopher, Mark, Paul R., Bhoj, Elizabeth J., Li, Dong, Ortiz-Gonzalez, Xilma R., Keena, Beth, Zackai, Elaine H., Goldberg, Ethan M., Perez de Nanclares, Guiomar, Pereda, Arrate, Llano-Rivas, Isabel, Arroyo, Ignacio, Fernández-Cuesta, María Ángeles, Thauvin-Robinet, Christel, Faivre, Laurence, Garde, Aurore, Mazel, Benoit, Bruel, Ange-Line, Tress, Michael L., Brilstra, Eva, Fine, Amena Smith, Crompton, Kylie E., Stegmann, Alexander P.A., Sinnema, Margje, Stevens, Servi C.J., Nicolai, Joost, Lesca, Gaetan, Lion-François, Laurence, Haye, Damien, Chatron, Nicolas, Piton, Amelie, Nizon, Mathilde, Cogne, Benjamin, Srivastava, Siddharth, Bassetti, Jennifer, Muss, Candace, Gripp, Karen W., Procopio, Rebecca A., Millan, Francisca, Morrow, Michelle M., Assaf, Melissa, Moreno-De-Luca, Andres, Joss, Shelagh, Hamilton, Mark J., Bertoli, Marta, Foulds, Nicola, McKee, Shane, MacLennan, Alastair H., Gecz, Jozef, Corbett, Mark A.
Published in Genetics in medicine (01.11.2022)
Published in Genetics in medicine (01.11.2022)
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scoreInvHap: Inversion genotyping for genome-wide association studies
Ruiz-Arenas, Carlos, Cáceres, Alejandro, López-Sánchez, Marcos, Tolosana, Ignacio, Pérez-Jurado, Luis, González, Juan R
Published in PLoS genetics (01.07.2019)
Published in PLoS genetics (01.07.2019)
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Extreme downregulation of chromosome Y and Alzheimer's disease in men
Caceres, Alejandro, Jene, Aina, Esko, Tonu, Perez-Jurado, Luis A., Gonzalez, Juan R.
Published in Neurobiology of aging (01.06.2020)
Published in Neurobiology of aging (01.06.2020)
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Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases
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
Published in The Journal of molecular diagnostics : JMD (01.05.2022)
Published in The Journal of molecular diagnostics : JMD (01.05.2022)
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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
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
Published in Human mutation (01.02.2011)
Published in Human mutation (01.02.2011)
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Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis
MICALE, Lucia, GIUSEPPINA TURTURO, Maria, MERLA, Giuseppe, FUSCO, Carmela, AUGELLO, Bartolomeo, PEREZ JURADO, Luis A, IZZI, Claudia, DIGILIO, Maria Cristina, MILANI, Donatella, LAPI, Elisabetta, ZELANTE, Leopoldo
Published in European journal of human genetics : EJHG (01.03.2010)
Published in European journal of human genetics : EJHG (01.03.2010)
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New population and phylogenetic features of the internal variation within mitochondrial DNA macro-haplogroup R0
Alvarez-Iglesias, Vanesa, Mosquera-Miguel, Ana, Cerezo, Maria, Quintáns, Beatriz, Zarrabeitia, Maria Teresa, Cuscó, Ivon, Lareu, Maria Victoria, García, Oscar, Pérez-Jurado, Luis, Carracedo, Angel, Salas, Antonio
Published in PloS one (02.04.2009)
Published in PloS one (02.04.2009)
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Facial emotion processing in patients with social anxiety disorder and Williams–Beuren syndrome: an fMRI study
Binelli, Cynthia, PhD, Muñiz, Armando, MD, Martin-Santos, Rocio, MD, PhD, Navines, Ricard, MD, PhD, Subira, Susana, MD, PhD, Blanco-Hinojo, Laura, MSc, Pujol, Jesus, MD, PhD, Crippa, Jose, MD, PhD, Perez-Garcia, Debora, BSc, Farré, Magi, MD, PhD, Pérez-Jurado, Luis, MD, PhD
Published in Journal of psychiatry & neuroscience (01.05.2016)
Published in Journal of psychiatry & neuroscience (01.05.2016)
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ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization
Schlüter, Agatha, Vélez-Santamaría, Valentina, Verdura, Edgard, Rodríguez-Palmero, Agustí, Ruiz, Montserrat, Fourcade, Stéphane, Planas-Serra, Laura, Launay, Nathalie, Guilera, Cristina, Martínez, Juan José, Homedes-Pedret, Christian, Albertí-Aguiló, M. Antonia, Zulaika, Miren, Martí, Itxaso, Troncoso, Mónica, Tomás-Vila, Miguel, Bullich, Gemma, García-Pérez, M. Asunción, Sobrido-Gómez, María-Jesús, López-Laso, Eduardo, Fons, Carme, Del Toro, Mireia, Macaya, Alfons, García-Cazorla, Àngels, Ortiz-Martínez, Antonio José, Ignacio-Ortez, Carlos, Cáceres-Marzal, Cristina, Martínez-Salcedo, Eduardo, Mondragón, Elisabet, Barredo, Estíbaliz, Airaldi, Ileana Antón, Martínez, Javier Ruiz, Ramos, Joaquin A. Fernández, Vázquez, Juan Francisco, Díez-Porras, Laura, Vázquez-Cancela, María, O’Callaghan, Mar, Sánchez, Tamara Pablo, Nedkova, Velina, Pérez, Ana Isabel Maraña, Beltran, Sergi, Gutiérrez-Solana, Luis G., Pérez-Jurado, Luis A., Aguilera-Albesa, Sergio, de Munain, Adolfo López, Casasnovas, Carlos, Pujol, Aurora
Published in Genome medicine (07.09.2023)
Published in Genome medicine (07.09.2023)
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Genome-wide CNV analysis replicates the association between GSTM1 deletion and bladder cancer: a support for using continuous measurement from SNP-array data
Marenne, Gaëlle, Real, Francisco X, Rothman, Nathaniel, Rodríguez-Santiago, Benjamin, Pérez-Jurado, Luis, Kogevinas, Manolis, García-Closas, Montse, Silverman, Debra T, Chanock, Stephen J, Génin, Emmanuelle, Malats, Núria
Published in BMC genomics (20.07.2012)
Published in BMC genomics (20.07.2012)
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Intermediate FMR1 alleles and cognitive and or behavioural phenotypes
MADRIGAL, Irene, XUNCLA, Mar, TEJADA, Maria Isabel, MARTINEZ, Francisco, FERNANDEZ-CARVAJAL, Isabel, PEREZ-JURADO, Luis Alberto, RODRIGUEZ-REVENGA, Laia, MILA, Montserrat
Published in European journal of human genetics : EJHG (01.08.2011)
Published in European journal of human genetics : EJHG (01.08.2011)
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Reply to ‘Mosaic loss of chromosome Y in leukocytes matters’
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.
Published in Nature genetics (01.01.2019)
Published in Nature genetics (01.01.2019)
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One level up: abnormal proteolytic regulation of IGF activity plays a role in human pathophysiology
Argente, Jesús, Chowen, Julie A, Pérez‐Jurado, Luis A, Frystyk, Jan, Oxvig, Claus
Published in EMBO molecular medicine (01.10.2017)
Published in EMBO molecular medicine (01.10.2017)
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Meta-analysis of heterogeneous Down Syndrome data reveals consistent genome-wide dosage effects related to neurological processes
Vilardell, Mireia, Rasche, Axel, Thormann, Anja, Maschke-Dutz, Elisabeth, Pérez-Jurado, Luis A, Lehrach, Hans, Herwig, Ralf
Published in BMC genomics (11.05.2011)
Published in BMC genomics (11.05.2011)
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NetActivity enhances transcriptional signals by combining gene expression into robust gene set activity scores through interpretable autoencoders
Ruiz-Arenas, Carlos, Marín-Goñi, Irene, Wang, Liewei, Ochoa, Idoia, Pérez-Jurado, Luis A, Hernaez, Mikel
Published in Nucleic acids research (22.05.2024)
Published in Nucleic acids research (22.05.2024)
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Extreme Downregulation of Chromosome Y and Cancer Risk in Men
Cáceres, Alejandro, Jene, Aina, Esko, Tonu, Pérez-Jurado, Luis A, González, Juan R
Published in JNCI : Journal of the National Cancer Institute (01.09.2020)
Published in JNCI : Journal of the National Cancer Institute (01.09.2020)
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Mutations in pregnancy‐associated plasma protein A2 cause short stature due to low IGF‐I availability
Dauber, Andrew, Muñoz‐Calvo, María T, Barrios, Vicente, Domené, Horacio M, Kloverpris, Soren, Serra‐Juhé, Clara, Desikan, Vardhini, Pozo, Jesús, Muzumdar, Radhika, Martos‐Moreno, Gabriel Á, Hawkins, Federico, Jasper, Héctor G, Conover, Cheryl A, Frystyk, Jan, Yakar, Shoshana, Hwa, Vivian, Chowen, Julie A, Oxvig, Claus, Rosenfeld, Ron G, Pérez‐Jurado, Luis A, Argente, Jesús
Published in EMBO molecular medicine (01.04.2016)
Published in EMBO molecular medicine (01.04.2016)
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