Search Results - "Carrera, Noa"

De novo mutations in schizophrenia implicate synaptic networks by Fromer, Menachem, Pocklington, Andrew J., Kavanagh, David H., Williams, Hywel J., Dwyer, Sarah, Gormley, Padhraig, Georgieva, Lyudmila, Rees, Elliott, Palta, Priit, Ruderfer, Douglas M., Carrera, Noa, Humphreys, Isla, Johnson, Jessica S., Roussos, Panos, Barker, Douglas D., Banks, Eric, Milanova, Vihra, Grant, Seth G., Hannon, Eilis, Rose, Samuel A., Chambert, Kimberly, Mahajan, Milind, Scolnick, Edward M., Moran, Jennifer L., Kirov, George, Palotie, Aarno, McCarroll, Steven A., Holmans, Peter, Sklar, Pamela, Owen, Michael J., Purcell, Shaun M., O’Donovan, Michael C.

“…Inherited alleles account for most of the genetic risk for schizophrenia. However, new ( de novo ) mutations, in the form of large chromosomal copy number…”
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Molecular Basis, Diagnostic Challenges and Therapeutic Approaches of Bartter and Gitelman Syndromes: A Primer for Clinicians by Nuñez-Gonzalez, Laura, Carrera, Noa, Garcia-Gonzalez, Miguel A

“…Gitelman and Bartter syndromes are rare inherited diseases that belong to the category of renal tubulopathies. The genes associated with these pathologies…”
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HNF1B Transcription Factor: Key Regulator in Renal Physiology and Pathogenesis by Sánchez-Cazorla, Eloísa, Carrera, Noa, García-González, Miguel Ángel

“…The gene, located on chromosome 17q12, encodes a transcription factor essential for the development of several organs. It regulates the expression of multiple…”
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De novo mutations identified by exome sequencing implicate rare missense variants in SLC6A1 in schizophrenia by Rees, Elliott, Han, Jun, Morgan, Joanne, Carrera, Noa, Escott-Price, Valentina, Pocklington, Andrew J., Duffield, Madeleine, Hall, Lynsey S., Legge, Sophie E., Pardiñas, Antonio F., Richards, Alexander L., Roth, Julian, Lezheiko, Tatyana, Kondratyev, Nikolay, Kaleda, Vasilii, Golimbet, Vera, Parellada, Mara, González-Peñas, Javier, Arango, Celso, Gawlik, Micha, Kirov, George, Walters, James T. R., Holmans, Peter, O’Donovan, Michael C., Owen, Michael J.

“…Schizophrenia is a highly polygenic disorder with important contributions from both common and rare risk alleles. We analyzed exome sequencing data for de novo…”
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Association Study of Nonsynonymous Single Nucleotide Polymorphisms in Schizophrenia by Carrera, Noa, Arrojo, Manuel, Sanjuán, Julio, Ramos-Ríos, Ramón, Paz, Eduardo, Suárez-Rama, Jose J, Páramo, Mario, Agra, Santiago, Brenlla, Julio, Martínez, Silvia, Rivero, Olga, Collier, David A, Palotie, Aarno, Cichon, Sven, Nöthen, Markus M, Rietschel, Marcella, Rujescu, Dan, Stefansson, Hreinn, Steinberg, Stacy, Sigurdsson, Engilbert, Clair, David St, Tosato, Sarah, Werge, Thomas, Stefansson, Kari, González, Jose Carlos, Valero, Joaquín, Gutiérrez-Zotes, Alfonso, Labad, Antonio, Martorell, Lourdes, Vilella, Elisabet, Carracedo, Ángel, Costas, Javier

“…Background Genome-wide association studies using several hundred thousand anonymous markers present limited statistical power. Alternatively, association…”
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Genetic Kidney Diseases (GKDs) Modeling Using Genome Editing Technologies by Gómez-García, Fernando, Martínez-Pulleiro, Raquel, Carrera, Noa, Allegue, Catarina, Garcia-Gonzalez, Miguel A

“…Genetic kidney diseases (GKDs) are a group of rare diseases, affecting approximately about 60 to 80 per 100,000 individuals, for which there is currently no…”
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Role of DISC1 Interacting Proteins in Schizophrenia Risk from Genome‐Wide Analysis of Missense SNPs by Costas, Javier, Suárez‐Rama, Jose Javier, Carrera, Noa, Paz, Eduardo, Páramo, Mario, Agra, Santiago, Brenlla, Julio, Ramos‐Ríos, Ramón, Arrojo, Manuel

“…Summary A balanced translocation affecting DISC1 cosegregates with several psychiatric disorders, including schizophrenia, in a Scottish family. DISC1 is a hub…”
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Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection by Pardiñas, Antonio F., Holmans, Peter, Pocklington, Andrew J., Escott-Price, Valentina, Ripke, Stephan, Carrera, Noa, Legge, Sophie E., Bishop, Sophie, Cameron, Darren, Hamshere, Marian L., Han, Jun, Hubbard, Leon, Lynham, Amy, Mantripragada, Kiran, Rees, Elliott, MacCabe, James H., McCarroll, Steven A., Baune, Bernhard T., Breen, Gerome, Byrne, Enda M., Dannlowski, Udo, Eley, Thalia C., Hayward, Caroline, Martin, Nicholas G., McIntosh, Andrew M., Plomin, Robert, Porteous, David J., Wray, Naomi R., Caballero, Armando, Geschwind, Daniel H., Huckins, Laura M., Ruderfer, Douglas M., Santiago, Enrique, Sklar, Pamela, Stahl, Eli A., Won, Hyejung, Agerbo, Esben, Als, Thomas D., Andreassen, Ole A., Bækvad-Hansen, Marie, Mortensen, Preben Bo, Pedersen, Carsten Bøcker, Børglum, Anders D., Bybjerg-Grauholm, Jonas, Djurovic, Srdjan, Durmishi, Naser, Pedersen, Marianne Giørtz, Golimbet, Vera, Grove, Jakob, Hougaard, David M., Mattheisen, Manuel, Molden, Espen, Mors, Ole, Nordentoft, Merete, Pejovic-Milovancevic, Milica, Sigurdsson, Engilbert, Silagadze, Teimuraz, Hansen, Christine Søholm, Stefansson, Kari, Stefansson, Hreinn, Steinberg, Stacy, Tosato, Sarah, Werge, Thomas, Collier, David A., Rujescu, Dan, Kirov, George, Owen, Michael J., O’Donovan, Michael C., Walters, James T. R.

“…Schizophrenia is a debilitating psychiatric condition often associated with poor quality of life and decreased life expectancy. Lack of progress in improving…”
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Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes by Ruderfer, Douglas M., Boocock, James, Stahl, Eli A., Charney, Alexander W., Ori, Anil P.S., Alliey-Rodriguez, Ney, Anjorin, Adebayo, Badner, Judith A., Band, Gavin, Bruggeman, Richard, Buccola, Nancy G., Bumpstead, Suzannah J., Casas, Juan P., Chan, Raymond C.K., Chen, Ronald Y.L., Collier, David A., Cormican, Paul, Craddock, Nicholas, Crowley, James J., Curtis, David, Dannlowski, Udo, Davidson, Michael, Demontis, Ditte, Dronov, Serge, Elvsashagen, Torbjorn, Etain, Bruno, Fan, Chun Chieh, Forty, Liz, Fraser, Christine, Garnham, Julie, Gill, Michael, Gillman, Matthew, Gratten, Jacob, Gwilliam, Rhian, Hammer, Christian, Hansen, Thomas, Henskens, Frans A., Jamain, Stephane, Jankowski, Janusz, Joa, Inge, Julia, Antonio, Kandaswamy, Radhika, Kavanagh, David, Keller, Matthew C., Khrunin, Andrey, Lee, Phil H., Legge, Sophie E., Lencz, Todd, Levinson, Douglas F., Levy, Shawn E., Li, Tao, Lin, Kuang, Macek, Milan, McCarley, Robert W., McGuffin, Peter, McInnis, Melvin G., Meijer, Carin J., Melegh, Bela, Mesholam-Gately, Raquelle I., Myin-Germeys, Inez, Nicodemus, Kristin K., Nimgaonkar, Vishwajit, Nordin, Annelie, Nöthen, Markus M., Van Os, Jim, Owen, Michael J., Palmer, Colin N.A., Palotie, Aarno, Papadimitriou, George N., Pato, Michele T., Perlis, Roy H., Petryshen, Tracey L., Plomin, Robert, Potash, James B., Powell, John, Ramos-Quiroga, Josep Antoni, Rautanen, Anna, Reichenberg, Abraham, Ribases, Marta, Rice, John P., Richards, Alexander L., Ricketts, Michelle, Sanchez-Mora, Cristina, Sanders, Alan R., Schall, Ulrich, Serretti, Alessandro, Sham, Pak C., Straub, Richard E., Strauss, John S., Szatkiewicz, Jin P., Thompson, Robert C., Thorgeirsson, Thorgeir E., Treutlein, Jens, Vedder, Helmut, Wang, Qiang, Wu, Jing Qin, Sullivan, Patrick F., Wray, Naomi R., Sklar, Pamela, Kendler, Kenneth S.

“…Schizophrenia and bipolar disorder are two distinct diagnoses that share symptomology. Understanding the genetic factors contributing to the shared and…”
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Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects by Merico, Daniele, Antaki, Danny, Shetty, Aniket, Gujral, Madhusudan, Brandler, William M, Malhotra, Dheeraj, Alexander, Madeline, Belliveau, Richard A, Bergen, Sarah E, Bertalan, Marcelo, Bevilacqua, Elizabeth, Cantor, Rita M, Carrera, Noa, Cormican, Paul, Crespo-Facorro, Benedicto, Curtis, David, Davidson, Michael, Degenhardt, Franziska, Del Favero, Jurgen, DeLisi, Lynn E, Dudbridge, Frank, Eichhammer, Peter, Eriksson, Johan, Essioux, Laurent, Farrell, Martilias S, Freedman, Robert, Freimer, Nelson B, Georgieva, Lyudmila, Gershon, Elliot S, Giegling, Ina, Godard, Stephanie, Goldstein, Jacqueline I, Hamshere, Marian L, Hartmann, Annette M, Hofman, Andrea, Kähler, Anna K, Kalaydjieva, Luba, Kelly, Brian J, Lee, S Hong, Legge, Sophie E, Lerer, Bernard, Levy, Deborah L, Maher, Brion S, Mattingsdal, Morten, McDonald, Colm, Metspalu, Andres, Milanova, Vihra, Morris, Derek W, Murray, Robin M, Nestadt, Gerald, Nicodemus, Kristin K, Nordin, Annelie, Oh, Sang-Yun, Olsen, Line, Van Os, Jim, Pantelis, Christos, Pers, Tune H, Powell, John, Price, Alkes, Pulver, Ann E, Purcell, Shaun M, Rasmussen, Henrik B, Richards, Alexander L, Roussos, Panos, Schall, Ulrich, Schwab, Sibylle G, Smoller, Jordan W, Spencer, Chris C A, Stahl, Eli A, Stroup, T Scott, Suvisaari, Jaana, Svrakic, Dragan M, Szatkiewicz, Jin P, Veijola, Juha, Waddington, John, Webb, Bradley T, Williams, Nigel M, Williams, Stephanie, Wolen, Aaron R, Adolfsson, Rolf, Blackwood, Douglas H R, Bramon, Elvira, Buxbaum, Joseph D, Collier, David A, Daly, Mark J, Darvasi, Ariel, Domenici, Enrico, Gill, Michael, Iwata, Nakao, Jablensky, Assen V, Jönsson, Erik G, Kirov, George, Knight, Jo, Levinson, Douglas F, Ophoff, Roel A, Owen, Michael J, Rietschel, Marcella, Rujescu, Dan, O'Donovan, Michael C, Neale, Benjamin M

“…The CNV analysis group of the Psychiatric Genomic Consortium analyzes a large schizophrenia cohort to examine genomic copy number variants (CNVs) and disease…”
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A Comparison of Ten Polygenic Score Methods for Psychiatric Disorders Applied Across Multiple Cohorts by Ni, Guiyan, Wang, Ying, Ge, Tian, Smoller, Jordan W., Ripke, Stephan, Farh, Kai-How, Holmans, Peter A., Agartz, Ingrid, Belliveau, Richard A., Bigdeli, Tim B., Black, Donald W., Buckner, Randy L., Cheng, Wei, Degenhardt, Franziska, Dudbridge, Frank, Eichhammer, Peter, Farrell, Martilias S., Frank, Josef, Freedman, Robert, Friedl, Marion, Giegling, Ina, Giusti-Rodríguez, Paola, Gratten, Jacob, Hartmann, Annette M., Hollegaard, Mads V., Kahn, René S., Karachanak-Yankova, Sena, Kavanagh, David, Keller, Matthew C., Kennedy, James L., Knowles, James A., Kucinskiene, Zita Ausrele, Li, Tao, Loughland, Carmel M., Lubinski, Jan, Maier, Wolfgang, Mallet, Jacques, Michie, Patricia T., Myin-Germeys, Inez, Nertney, Deborah A., Nicodemus, Kristin K., Nikitina-Zake, Liene, O’Callaghan, Eadbhard, O’Dushlaine, Colm, Pejovic-Milovancevic, Milica, Pocklington, Andrew J., Powell, John, Pulver, Ann E., Ruderfer, Douglas M., Salomaa, Veikko, Shi, Jianxin, Sim, Kang, Slominsky, Petr, Spencer, Chris C.A., Stahl, Eli A., Steinberg, Stacy, Stogmann, Elisabeth, Suvisaari, Jaana, Williams, Nigel M., Witt, Stephanie H., Wormley, Brandon K., Blackwood, Douglas H.R., Bramon, Elvira, Buxbaum, Joseph D., Esko, Tõnu, Gurling, Hugh, Moran, Jennifer L., Mowry, Bryan J., Owen, Michael J., Petryshen, Tracey L., Weinberger, Daniel R., Byrne, Enda M., Abdellaoui, Abdel, Andlauer, Till F.M., Castelao, Enrique, Derks, Eske M., Foo, Jerome C., Forstner, Andreas J., Hall, Lynsey S., Homuth, Georg, Jansen, Rick, Jones, Ian, Jones, Lisa A., Kretzschmar, Warren W., McGuffin, Peter, Mihailov, Evelin, Mostafavi, Sara, Nivard, Michel G., O’Reilly, Paul F., Quiroz, Jorge A., Smith, Daniel J., Thompson, Wesley, Treutlein, Jens, Umbricht, Daniel, Wu, Yang, Zhang, Futao, Grabe, Hans J., Hayward, Caroline, Lewis, Glyn, Wray, Naomi R.

“…Polygenic scores (PGSs), which assess the genetic risk of individuals for a disease, are calculated as a weighted count of risk alleles identified in…”
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Partitioning Heritability of Regulatory and Cell-Type-Specific Variants across 11 Common Diseases by Trynka, Gosia, Stahl, Eli, Neale, Benjamin M., Farh, Kai-How, Pers, Tune H., Albus, Margot, Cahn, Wiepke, Cai, Guiqing, Carr, Vaughan J., Carrera, Noa, Cheng, Wei, Cheung, Eric F.C., Cohen, David, Cormican, Paul, Craddock, Nick, Demontis, Ditte, Djurovic, Srdjan, Donohoe, Gary, Dudbridge, Frank, Durmishi, Naser, Eriksson, Johan, Farrell, Martilias S., Freimer, Nelson B., Fromer, Menachem, Godard, Stephanie, Goldstein, Jacqueline I., Grove, Jakob, Hartmann, Annette M., Henskens, Frans A., Herms, Stefan, Hirschhorn, Joel N., Hoffmann, Per, Hougaard, David M., Ikeda, Masashi, Julià, Antonio, Kelly, Brian J., Kennedy, James L., Kucinskas, Vaidutis, Kuzelova-Ptackova, Hana, Laurent, Claudine, Lee, S. Hong, Li, Tao, Lieberman, Jeffrey, Limborska, Svetlana, Loughland, Carmel M., Lnnqvist, Jouko, Marsal, Sara, McCarley, Robert W., Meijer, Carin J., Melegh, Bela, Melle, Ingrid, Milani, Lili, Mors, Ole, Myin-Germeys, Inez, Nikitina-Zake, Liene, O’Callaghan, Eadbhard, O’Dushlaine, Colm, O’Neill, F. Anthony, Oh, Sang-Yun, Pantelis, Christos, Parkhomenko, Elena, Perkins, Diana O., Powell, John, Quested, Digby, Salomaa, Veikko, Schubert, Christian R., Shi, Jianxin, Sigurdsson, Engilbert, Sim, Kang, Stogmann, Elisabeth, Strengman, Eric, Suvisaari, Jaana, Thirumalai, Srinivas, Veijola, Juha, Walsh, Dermot, Weiser, Mark, Witt, Stephanie H., Wong, Emily H.M., Wu, Jing Qin, Stefansson, Kari, Blackwood, Douglas H.R., Ehrenreich, Hannelore, Gurling, Hugh, Hultman, Christina M., Kirov, George, Malhotra, Anil K., McCarroll, Steven A., McQuillin, Andrew, Palotie, Aarno, Rietschel, Marcella, Sham, Pak C., O’Donovan, Michael C., Bergen, Sarah, Magnusson, Patrik K.E., Scolnick, Edward, Purcell, Shaun M., Pasaniuc, Bogdan, Sullivan, Patrick F., Raychaudhuri, Soumya, Price, Alkes L.

“…Regulatory and coding variants are known to be enriched with associations identified by genome-wide association studies (GWASs) of complex disease, but their…”
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Phenotypic-Genotypic Relationship of Focal and Segmental Glomerulosclerosis (FSGS): PO1321 by Tato, Ana M., cachaza, Noa Carrera, Garcia-Murias, Maria, Shabaka, Amir, Cases Corona, Clara M., Juarez, Gema Fernandez, Garcia-Gonzalez, Miguel A.

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Targeted Sequencing of 10,198 Samples Confirms Abnormalities in Neuronal Activity and Implicates Voltage-Gated Sodium Channels in Schizophrenia Pathogenesis by Rees, Elliott, Carrera, Noa, Morgan, Joanne, Hambridge, Kirsty, Escott-Price, Valentina, Pocklington, Andrew J., Richards, Alexander L., Pardiñas, Antonio F., Alizadeh, Behrooz Z., van Amelsvoort, Therese, Bartels-Velthuis, Agna A., van Beveren, Nico J., Bruggeman, Richard, Cahn, Wiepke, de Haan, Lieuwe, Delespaul, Philippe, Meijer, Carin J., Myin-Germeys, Inez, Kahn, Rene S., Schirmbeck, Frederike, Simons, Claudia J.P., van Haren, Neeltje E., van Os, Jim, van Winkel, Ruud, Luykx, Jurjen J., McDonald, Colm, Donohoe, Gary, Morris, Derek W., Kenny, Elaine, Kelleher, Eric, Gill, Michael, Corvin, Aiden, Kirov, George, Walters, James T.R., Holmans, Peter, Owen, Michael J., O’Donovan, Michael C.

“…Sequencing studies have pointed to the involvement in schizophrenia of rare coding variants in neuronally expressed genes, including activity-regulated…”
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SA99 - TARGETED SEQUENCING OF 187 PUTATIVE SCHIZOPHRENIA RISK GENES IN 5,207 CASES AND 4,991 CONTROLS by Rees, Elliott, Carrera, Noa, Morgan, Joanne, Pocklington, Andrew, Escott-Price, Valentina, Kirov, George, Holmans, Peter, Walters, James T.R., Owen, Michael, O'Donovan, Michael

“…Recent sequencing studies have shown a small fraction of SZ risk comes from rare mutations. They have also advanced our understanding of SZ pathophysiology,…”
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TARGETED SEQUENCING OF 187 PUTATIVE SCHIZOPHRENIA RISK GENES IN 5,207 CASES AND 4,991 CONTROLS by Rees, Elliott, Carrera, Noa, Morgan, Joanne, Pocklington, Andrew, Escott-Price, Valentina, Kirov, George, Holmans, Peter, Walters, James T.R., Owen, Michael, O'Donovan, Michael

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Identification of putative second genetic hits in schizophrenia carriers of high-risk copy number variants and resequencing in additional samples by Rodríguez-López, Julio, Sobrino, Beatriz, Amigo, Jorge, Carrera, Noa, Brenlla, Julio, Agra, Santiago, Paz, Eduardo, Carracedo, Ángel, Páramo, Mario, Arrojo, Manuel, Costas, Javier

“…Copy number variants (CNVs) conferring risk of schizophrenia present incomplete penetrance, suggesting the existence of second genetic hits. Identification of…”
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Genetic testing in focal segmental glomerulosclerosis: in whom and when? by Tato, Ana María, Carrera, Noa, García-Murias, Maria, Shabaka, Amir, Ávila, Ana, Mora Mora, María Teresa, Rabasco, Cristina, Soto, Karina, de la Prada Alvarez, Francisco Jose, Fernández-Lorente, Loreto, Rodríguez-Moreno, Antolina, Huerta, Ana, Mon, Carmen, García-Carro, Clara, González Cabrera, Fayna, Navarro, Juan Antonio Martín, Romera, Ana, Gutiérrez, Eduardo, Villacorta, Javier, de Lorenzo, Alberto, Avilés, Beatriz, Garca-González, Miguel Angel, Fernández-Juárez, Gema

“…ABSTRACT Background Genetic causes are increasingly recognized in patients with focal segmental glomerulosclerosis (FSGS), but it remains unclear which…”
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Publisher Correction: Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection by Pardiñas, Antonio F., Holmans, Peter, Pocklington, Andrew J., Escott-Price, Valentina, Ripke, Stephan, Carrera, Noa, Legge, Sophie E., Bishop, Sophie, Cameron, Darren, Hamshere, Marian L., Han, Jun, Hubbard, Leon, Lynham, Amy, Mantripragada, Kiran, Rees, Elliott, MacCabe, James H., McCarroll, Steven A., Baune, Bernhard T., Breen, Gerome, Byrne, Enda M., Dannlowski, Udo, Eley, Thalia C., Hayward, Caroline, Martin, Nicholas G., McIntosh, Andrew M., Plomin, Robert, Porteous, David J., Wray, Naomi R., Caballero, Armando, Geschwind, Daniel H., Huckins, Laura M., Ruderfer, Douglas M., Santiago, Enrique, Sklar, Pamela, Stahl, Eli A., Won, Hyejung, Agerbo, Esben, Als, Thomas D., Andreassen, Ole A., Bækvad-Hansen, Marie, Mortensen, Preben Bo, Pedersen, Carsten Bøcker, Børglum, Anders D., Bybjerg-Grauholm, Jonas, Djurovic, Srdjan, Durmishi, Naser, Pedersen, Marianne Giørtz, Golimbet, Vera, Grove, Jakob, Hougaard, David M., Mattheisen, Manuel, Molden, Espen, Mors, Ole, Nordentoft, Merete, Pejovic-Milovancevic, Milica, Sigurdsson, Engilbert, Silagadze, Teimuraz, Hansen, Christine Søholm, Stefansson, Kari, Stefansson, Hreinn, Steinberg, Stacy, Tosato, Sarah, Werge, Thomas, Collier, David A., Rujescu, Dan, Kirov, George, Owen, Michael J., O’Donovan, Michael C., Walters, James T. R.

“…An amendment to this paper has been published and can be accessed via a link at the top of the paper…”
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Exon-focused genome-wide association study of obsessive-compulsive disorder and shared polygenic risk with schizophrenia by Costas, J, Carrera, N, Alonso, P, Gurriarán, X, Segalàs, C, Real, E, López-Solà, C, Mas, S, Gassó, P, Domènech, L, Morell, M, Quintela, I, Lázaro, L, Menchón, J M, Estivill, X, Carracedo, Á

“…Common single-nucleotide polymorphisms (SNPs) account for a large proportion of the heritability of obsessive-compulsive disorder (OCD). Co-ocurrence of OCD…”
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