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2. Rare coding variation provides insight into the genetic architecture and phenotypic context of autism

Author

Fu, Jack M, Satterstrom, F Kyle, Peng, Minshi, Brand, Harrison, Collins, Ryan L, Dong, Shan, Wamsley, Brie, Klei, Lambertus, Wang, Lily, Hao, Stephanie P, Stevens, Christine R, Cusick, Caroline, Babadi, Mehrtash, Banks, Eric, Collins, Brett, Dodge, Sheila, Gabriel, Stacey B, Gauthier, Laura, Lee, Samuel K, Liang, Lindsay, Ljungdahl, Alicia, Mahjani, Behrang, Sloofman, Laura, Smirnov, Andrey N, Barbosa, Mafalda, Betancur, Catalina, Brusco, Alfredo, Chung, Brian HY, Cook, Edwin H, Cuccaro, Michael L, Domenici, Enrico, Ferrero, Giovanni Battista, Gargus, J Jay, Herman, Gail E, Hertz-Picciotto, Irva, Maciel, Patricia, Manoach, Dara S, Passos-Bueno, Maria Rita, Persico, Antonio M, Renieri, Alessandra, Sutcliffe, James S, Tassone, Flora, Trabetti, Elisabetta, Campos, Gabriele, Cardaropoli, Simona, Carli, Diana, Chan, Marcus CY, Fallerini, Chiara, Giorgio, Elisa, Girardi, Ana Cristina, Hansen-Kiss, Emily, Lee, So Lun, Lintas, Carla, Ludena, Yunin, Nguyen, Rachel, Pavinato, Lisa, Pericak-Vance, Margaret, Pessah, Isaac N, Schmidt, Rebecca J, Smith, Moyra, Costa, Claudia IS, Trajkova, Slavica, Wang, Jaqueline YT, Yu, Mullin HC, Cutler, David J, De Rubeis, Silvia, Buxbaum, Joseph D, Daly, Mark J, Devlin, Bernie, Roeder, Kathryn, Sanders, Stephan J, and Talkowski, Michael E

Subjects
Biological Sciences, Bioinformatics and Computational Biology, Genetics, Autism, Brain Disorders, Pediatric, Biotechnology, Intellectual and Developmental Disabilities (IDD), Human Genome, Mental Health, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Mental health, Autism Spectrum Disorder, Autistic Disorder, DNA Copy Number Variations, Genetic Predisposition to Disease, Humans, Mutation, Autism Sequencing Consortium, Broad Institute Center for Common Disease Genomics, iPSYCH-BROAD Consortium, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract

Some individuals with autism spectrum disorder (ASD) carry functional mutations rarely observed in the general population. We explored the genes disrupted by these variants from joint analysis of protein-truncating variants (PTVs), missense variants and copy number variants (CNVs) in a cohort of 63,237 individuals. We discovered 72 genes associated with ASD at false discovery rate (FDR) ≤ 0.001 (185 at FDR ≤ 0.05). De novo PTVs, damaging missense variants and CNVs represented 57.5%, 21.1% and 8.44% of association evidence, while CNVs conferred greatest relative risk. Meta-analysis with cohorts ascertained for developmental delay (DD) (n = 91,605) yielded 373 genes associated with ASD/DD at FDR ≤ 0.001 (664 at FDR ≤ 0.05), some of which differed in relative frequency of mutation between ASD and DD cohorts. The DD-associated genes were enriched in transcriptomes of progenitor and immature neuronal cells, whereas genes showing stronger evidence in ASD were more enriched in maturing neurons and overlapped with schizophrenia-associated genes, emphasizing that these neuropsychiatric disorders may share common pathways to risk.

Published
2022

7. A framework for an evidence-based gene list relevant to autism spectrum disorder

Author

Schaaf, Christian P., Betancur, Catalina, Yuen, Ryan K. C., Parr, Jeremy R., Skuse, David H., Gallagher, Louise, Bernier, Raphael A., Buchanan, Janet A., Buxbaum, Joseph D., Chen, Chun-An, Dies, Kira A., Elsabbagh, Mayada, Firth, Helen V., Frazier, Thomas, Hoang, Ny, Howe, Jennifer, Marshall, Christian R., Michaud, Jacques L., Rennie, Olivia, Szatmari, Peter, Chung, Wendy K., Bolton, Patrick F., Cook, Edwin H., Scherer, Stephen W., and Vorstman, Jacob A. S.

Published
2020
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8. Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways

Author

O'Dushlaine, Colm, Rossin, Lizzy, Lee, Phil H, Duncan, Laramie, Parikshak, Neelroop N, Newhouse, Stephen, Ripke, Stephan, Neale, Benjamin M, Purcell, Shaun M, Posthuma, Danielle, Nurnberger, John I, Lee, S Hong, Faraone, Stephen V, Perlis, Roy H, Mowry, Bryan J, Thapar, Anita, Goddard, Michael E, Witte, John S, Absher, Devin, Agartz, Ingrid, Akil, Huda, Amin, Farooq, Andreassen, Ole A, Anjorin, Adebayo, Anney, Richard, Anttila, Verneri, Arking, Dan E, Asherson, Philip, Azevedo, Maria H, Backlund, Lena, Badner, Judith A, Bailey, Anthony J, Banaschewski, Tobias, Barchas, Jack D, Barnes, Michael R, Barrett, Thomas B, Bass, Nicholas, Battaglia, Agatino, Bauer, Michael, Bayes, Monica, Bellivier, Frank, Bergen, Sarah E, Berrettini, Wade, Betancur, Catalina, Bettecken, Thomas, Biederman, Joseph, Binder, Elisabeth B, Black, Donald W, Blackwood, Douglas HR, Bloss, Cinnamon S, Boehnke, Michael, Boomsma, Dorret I, Breuer, Rene, Bruggeman, Richard, Cormican, Paul, Buccola, Nancy G, Buitelaar, Jan K, Bunney, William E, Buxbaum, Joseph D, Byerley, William F, Byrne, Enda M, Caesar, Sian, Cahn, Wiepke, Cantor, Rita M, Casas, Miguel, Chakravarti, Aravinda, Chambert, Kimberly, Choudhury, Khalid, Cichon, Sven, Mattheisen, Manuel, Cloninger, C Robert, Collier, David A, Cook, Edwin H, Coon, Hilary, Cormand, Bru, Corvin, Aiden, Coryell, William H, Craig, David W, Craig, Ian W, Crosbie, Jennifer, Cuccaro, Michael L, Curtis, David, Czamara, Darina, Datta, Susmita, Dawson, Geraldine, Day, Richard, De Geus, Eco J, Degenhardt, Franziska, Djurovic, Srdjan, Donohoe, Gary J, Doyle, Alysa E, Duan, Jubao, Dudbridge, Frank, Duketis, Eftichia, Ebstein, Richard P, Edenberg, Howard J, Elia, Josephine, Ennis, Sean, Etain, Bruno, and Fanous, Ayman

Subjects
Human Genome, Brain Disorders, Serious Mental Illness, Schizophrenia, Genetics, Depression, Mental Health, Aetiology, 2.1 Biological and endogenous factors, Mental health, Good Health and Well Being, Brain, Databases, Genetic, Genetic Predisposition to Disease, Genome-Wide Association Study, Histones, Humans, Mental Disorders, Signal Transduction, Network and Pathway Analysis Subgroup of Psychiatric Genomics Consortium, Neurosciences, Psychology, Cognitive Sciences, Neurology & Neurosurgery
Abstract

Genome-wide association studies (GWAS) of psychiatric disorders have identified multiple genetic associations with such disorders, but better methods are needed to derive the underlying biological mechanisms that these signals indicate. We sought to identify biological pathways in GWAS data from over 60,000 participants from the Psychiatric Genomics Consortium. We developed an analysis framework to rank pathways that requires only summary statistics. We combined this score across disorders to find common pathways across three adult psychiatric disorders: schizophrenia, major depression and bipolar disorder. Histone methylation processes showed the strongest association, and we also found statistically significant evidence for associations with multiple immune and neuronal signaling pathways and with the postsynaptic density. Our study indicates that risk variants for psychiatric disorders aggregate in particular biological pathways and that these pathways are frequently shared between disorders. Our results confirm known mechanisms and suggest several novel insights into the etiology of psychiatric disorders.

Published
2015

9. Updated consensus guidelines on the management of Phelan–McDermid syndrome

Author

Srivastava, Siddharth, primary, Sahin, Mustafa, additional, Buxbaum, Joseph D., additional, Berry‐Kravis, Elizabeth, additional, Soorya, Latha Valluripalli, additional, Thurm, Audrey, additional, Bernstein, Jonathan A., additional, Asante‐Otoo, Afua, additional, Bennett, William E., additional, Betancur, Catalina, additional, Brickhouse, Tegwyn H., additional, Passos Bueno, Maria Rita, additional, Chopra, Maya, additional, Christensen, Celanie K., additional, Cully, Jennifer L., additional, Dies, Kira, additional, Friedman, Kate, additional, Gummere, Brittany, additional, Holder, J. Lloyd, additional, Jimenez‐Gomez, Andres, additional, Kerins, Carolyn A., additional, Khan, Omar, additional, Kohlenberg, Teresa, additional, Lacro, Ronald V., additional, Levi, Lori A., additional, Levy, Tess, additional, Linnehan, Diane, additional, Eva, Loth, additional, Moshiree, Baharak, additional, Neumeyer, Ann, additional, Paul, Scott M., additional, Phelan, Katy, additional, Persico, Antonio, additional, Rapaport, Robert, additional, Rogers, Curtis, additional, Saland, Jeffrey, additional, Sethuram, Swathi, additional, Shapiro, Janine, additional, Tarr, Phillip I., additional, White, Kerry M., additional, Wickstrom, Jordan, additional, Williams, Kent M., additional, Winrow, Dana, additional, Wishart, Brian, additional, and Kolevzon, Alexander, additional

Published
2023
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12. Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs.

Author

Absher, Devin, Agartz, Ingrid, Akil, Huda, Amin, Farooq, Andreassen, Ole, Anjorin, Adebayo, Anney, Richard, Anttila, Verneri, Arking, Dan, Asherson, Philip, Azevedo, Maria, Backlund, Lena, Badner, Judith, Bailey, Anthony, Banaschewski, Tobias, Barchas, Jack, Barnes, Michael, Barrett, Thomas, Bass, Nicholas, Battaglia, Agatino, Bauer, Michael, Bayés, Mònica, Bellivier, Frank, Bergen, Sarah, Berrettini, Wade, Betancur, Catalina, Bettecken, Thomas, Biederman, Joseph, Binder, Elisabeth, Black, Donald, Blackwood, Douglas, Boehnke, Michael, Boomsma, Dorret, Breen, Gerome, Breuer, René, Bruggeman, Richard, Cormican, Paul, Buccola, Nancy, Buitelaar, Jan, Bunney, William, Buxbaum, Joseph, Byerley, William, Byrne, Enda, Caesar, Sian, Cahn, Wiepke, Cantor, Rita, Casas, Miguel, Chakravarti, Aravinda, Chambert, Kimberly, Choudhury, Khalid, Cichon, Sven, Cloninger, C, Collier, David, Cook, Edwin, Coon, Hilary, Cormand, Bru, Corvin, Aiden, Coryell, William, Craig, David, Craig, Ian, Crosbie, Jennifer, Cuccaro, Michael, Curtis, David, Czamara, Darina, Datta, Susmita, Dawson, Geraldine, Day, Richard, De Geus, Eco, Degenhardt, Franziska, Djurovic, Srdjan, Donohoe, Gary, Doyle, Alysa, Duan, Jubao, Dudbridge, Frank, Duketis, Eftichia, Ebstein, Richard, Edenberg, Howard, Elia, Josephine, Ennis, Sean, Etain, Bruno, Fanous, Ayman, Farmer, Anne, Ferrier, I, Flickinger, Matthew, Fombonne, Eric, Foroud, Tatiana, Frank, Josef, Franke, Barbara, Fraser, Christine, Freedman, Robert, Giegling, Ina, Gill, Michael, Gordon, Scott, Gordon-Smith, Katherine, Green, Elaine, Greenwood, Tiffany, Grice, Dorothy, Gross, Magdalena, Grozeva, Detelina, and Guan, Weihua

Subjects
Adult, Attention Deficit Disorder with Hyperactivity, Bipolar Disorder, Child, Child Development Disorders, Pervasive, Crohn Disease, Depressive Disorder, Major, Genetic Heterogeneity, Genetic Predisposition to Disease, Genome, Human, Genome-Wide Association Study, Humans, Inheritance Patterns, Mental Disorders, Polymorphism, Single Nucleotide, Schizophrenia
Abstract

Most psychiatric disorders are moderately to highly heritable. The degree to which genetic variation is unique to individual disorders or shared across disorders is unclear. To examine shared genetic etiology, we use genome-wide genotype data from the Psychiatric Genomics Consortium (PGC) for cases and controls in schizophrenia, bipolar disorder, major depressive disorder, autism spectrum disorders (ASD) and attention-deficit/hyperactivity disorder (ADHD). We apply univariate and bivariate methods for the estimation of genetic variation within and covariation between disorders. SNPs explained 17-29% of the variance in liability. The genetic correlation calculated using common SNPs was high between schizophrenia and bipolar disorder (0.68 ± 0.04 s.e.), moderate between schizophrenia and major depressive disorder (0.43 ± 0.06 s.e.), bipolar disorder and major depressive disorder (0.47 ± 0.06 s.e.), and ADHD and major depressive disorder (0.32 ± 0.07 s.e.), low between schizophrenia and ASD (0.16 ± 0.06 s.e.) and non-significant for other pairs of disorders as well as between psychiatric disorders and the negative control of Crohns disease. This empirical evidence of shared genetic etiology for psychiatric disorders can inform nosology and encourages the investigation of common pathophysiologies for related disorders.

Published
2013

13. Recessive gene disruptions in autism spectrum disorder

Author

Doan, Ryan N., Lim, Elaine T., De Rubeis, Silvia, Betancur, Catalina, Cutler, David J., Chiocchetti, Andreas G., Overman, Lynne M., Soucy, Aubrie, Goetze, Susanne, Autism Sequencing Consortium, Freitag, Christine M., Daly, Mark J., Walsh, Christopher A., Buxbaum, Joseph D., and Yu, Timothy W.

Published
2019
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16. Mapping autism risk loci using genetic linkage and chromosomal rearrangements

Author

Szatmari, Peter, Paterson, Andrew D, Zwaigenbaum, Lonnie, Roberts, Wendy, Brian, Jessica, Liu, Xiao-Qing, Vincent, John B, Skaug, Jennifer L, Thompson, Ann P, Senman, Lili, Feuk, Lars, Qian, Cheng, Bryson, Susan E, Jones, Marshall B, Marshall, Christian R, Scherer, Stephen W, Vieland, Veronica J, Bartlett, Christopher, Mangin, La Vonne, Goedken, Rhinda, Segre, Alberto, Pericak-Vance, Margaret A, Cuccaro, Michael L, Gilbert, John R, Wright, Harry H, Abramson, Ruth K, Betancur, Catalina, Bourgeron, Thomas, Gillberg, Christopher, Leboyer, Marion, Buxbaum, Joseph D, Davis, Kenneth L, Hollander, Eric, Silverman, Jeremy M, Hallmayer, Joachim, Lotspeich, Linda, Sutcliffe, James S, Haines, Jonathan L, Folstein, Susan E, Piven, Joseph, Wassink, Thomas H, Sheffield, Val, Geschwind, Daniel H, Bucan, Maja, Brown, W Ted, Cantor, Rita M, Constantino, John N, Gilliam, T Conrad, Herbert, Martha, LaJonchere, Clara, Ledbetter, David H, Lese-Martin, Christa, Miller, Janet, Nelson, Stan, Samango-Sprouse, Carol A, Spence, Sarah, State, Matthew, Tanzi, Rudolph E, Coon, Hilary, Dawson, Geraldine, Devlin, Bernie, Estes, Annette, Flodman, Pamela, Klei, Lambertus, McMahon, William M, Minshew, Nancy, Munson, Jeff, Korvatska, Elena, Rodier, Patricia M, Schellenberg, Gerard D, Smith, Moyra, Spence, M Anne, Stodgell, Chris, Tepper, Ping Guo, Wijsman, Ellen M, Yu, Chang-En, Roge, Bernadette, Mantoulan, Carine, Wittemeyer, Kerstin, Poustka, Annemarie, Felder, Barbel, Klauck, Sabine M, Schuster, Claudia, Poustka, Fritz, Boelte, Sven, Feineis-Matthews, Sabine, Herbrecht, Evelyn, Schmoetzer, Gabi, Tsiantis, John, Papanikolaou, Katerina, Maestrini, Elena, Bacchelli, Elena, Blasi, Francesca, Carone, Simona, Toma, Claudio, Van Engeland, Herman, de Jonge, Maretha, Kemner, Chantal, Koop, Frederike, and Langemeijer, Marjolijn

Subjects
Biological Sciences, Genetics, Human Genome, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Mental Health, Pediatric Research Initiative, Pediatric, Autism, Autistic Disorder, Chromosome Aberrations, Chromosome Mapping, Family, Female, Genetic Linkage, Genetic Predisposition to Disease, Genetic Testing, Genetic Variation, Humans, Lod Score, Male, Risk Factors, Autism Genome Project Consortium, glutamic acid, neurexin, neuroligin, adult, analytical equipment, article, autism, chromosome 11p, chromosome rearrangement, controlled study, family, female, gene locus, gene mapping, genetic analysis, genetic linkage, genetic risk, genetic variability, human, major clinical study, male, microarray analysis, priority journal, sample size, single nucleotide polymorphism, synaptogenesis, Genetic Screening, Linkage, Variation, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract

Autism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions. The genetic architecture of ASDs is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASDs by using Affymetrix 10K SNP arrays and 1,181 [corrected] families with at least two affected individuals, performing the largest linkage scan to date while also analyzing copy number variation in these families. Linkage and copy number variation analyses implicate chromosome 11p12-p13 and neurexins, respectively, among other candidate loci. Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs.

Published
2007

17. Mapping autism risk loci using genetic linkage and chromosomal rearrangements.

Author

Autism Genome Project Consortium, Szatmari, Peter, Paterson, Andrew D, Zwaigenbaum, Lonnie, Roberts, Wendy, Brian, Jessica, Liu, Xiao-Qing, Vincent, John B, Skaug, Jennifer L, Thompson, Ann P, Senman, Lili, Feuk, Lars, Qian, Cheng, Bryson, Susan E, Jones, Marshall B, Marshall, Christian R, Scherer, Stephen W, Vieland, Veronica J, Bartlett, Christopher, Mangin, La Vonne, Goedken, Rhinda, Segre, Alberto, Pericak-Vance, Margaret A, Cuccaro, Michael L, Gilbert, John R, Wright, Harry H, Abramson, Ruth K, Betancur, Catalina, Bourgeron, Thomas, Gillberg, Christopher, Leboyer, Marion, Buxbaum, Joseph D, Davis, Kenneth L, Hollander, Eric, Silverman, Jeremy M, Hallmayer, Joachim, Lotspeich, Linda, Sutcliffe, James S, Haines, Jonathan L, Folstein, Susan E, Piven, Joseph, Wassink, Thomas H, Sheffield, Val, Geschwind, Daniel H, Bucan, Maja, Brown, W Ted, Cantor, Rita M, Constantino, John N, Gilliam, T Conrad, Herbert, Martha, Lajonchere, Clara, Ledbetter, David H, Lese-Martin, Christa, Miller, Janet, Nelson, Stan, Samango-Sprouse, Carol A, Spence, Sarah, State, Matthew, Tanzi, Rudolph E, Coon, Hilary, Dawson, Geraldine, Devlin, Bernie, Estes, Annette, Flodman, Pamela, Klei, Lambertus, McMahon, William M, Minshew, Nancy, Munson, Jeff, Korvatska, Elena, Rodier, Patricia M, Schellenberg, Gerard D, Smith, Moyra, Spence, M Anne, Stodgell, Chris, Tepper, Ping Guo, Wijsman, Ellen M, Yu, Chang-En, Rogé, Bernadette, Mantoulan, Carine, Wittemeyer, Kerstin, Poustka, Annemarie, Felder, Bärbel, Klauck, Sabine M, Schuster, Claudia, Poustka, Fritz, Bölte, Sven, Feineis-Matthews, Sabine, Herbrecht, Evelyn, Schmötzer, Gabi, Tsiantis, John, Papanikolaou, Katerina, Maestrini, Elena, Bacchelli, Elena, Blasi, Francesca, Carone, Simona, Toma, Claudio, Van Engeland, Herman, de Jonge, Maretha, Kemner, Chantal, and Koop, Frederieke

Subjects
Autism Genome Project Consortium, Humans, Chromosome Aberrations, Genetic Predisposition to Disease, Risk Factors, Chromosome Mapping, Family, Autistic Disorder, Lod Score, Female, Male, Genetic Variation, Genetic Testing, Genetic Linkage, Intellectual and Developmental Disabilities (IDD), Pediatric Research Initiative, Human Genome, Pediatric, Brain Disorders, Genetics, Autism, Mental Health, glutamic acid, neurexin, neuroligin, adult, analytical equipment, article, autism, chromosome 11p, chromosome rearrangement, controlled study, family, female, gene locus, gene mapping, genetic analysis, genetic linkage, genetic risk, genetic variability, human, major clinical study, male, microarray analysis, priority journal, sample size, single nucleotide polymorphism, synaptogenesis, Genetic Screening, Linkage, Variation, Developmental Biology, Biological Sciences, Medical and Health Sciences
Abstract

Autism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions. The genetic architecture of ASDs is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASDs by using Affymetrix 10K SNP arrays and 1,181 [corrected] families with at least two affected individuals, performing the largest linkage scan to date while also analyzing copy number variation in these families. Linkage and copy number variation analyses implicate chromosome 11p12-p13 and neurexins, respectively, among other candidate loci. Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs.

Published
2007

19. Organic cation transporter 2 contributes to SSRI antidepressant efficacy by controlling tryptophan availability in the brain

Author

Orrico-Sanchez, Alejandro, primary, Guiard, Bruno P., additional, Manta, Stella, additional, Callebert, Jacques, additional, Launay, Jean-Marie, additional, Louis, Franck, additional, Paccard, Antoine, additional, Gruszczynski, Carole, additional, Betancur, Catalina, additional, Vialou, Vincent, additional, and Gautron, Sophie, additional

Published
2023
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22. Collective Mental Health as an everyday life process: the case of two cultural organizations in Medellín, Colombia

Author

Betancur Betancur, Catalina and Betancur Betancur Catalina, Universidad CES (Colombia)

Subjects
Salud mental, Cultura, Mental Health, Promoción de la salud, Culture, TRABAJO DE CAMPO, Health Promotion
Abstract

La salud mental habla de la dimensión subjetiva y relacional de la salud; es una construcción cotidiana que se da en el marco de la producción cultural. Objetivo: articular la cultura y la promoción de la salud-salud mental, a través del análisis de las prácticas de dos organizaciones culturales de la ciudad de Medellín, Colombia. Metodología: estudio de caso etnográfico, emergente, con entrevistas, observación participante y revisión documental. Resultados: la participación en procesos culturales posibilita la transformación de las formas de relación, así como nuevos modos de construcción de subjetividad, dando paso al reconocimiento de sí y de los otros, a la solidaridad y al compromiso colectivo, lo cual habla de salud como la construcción de modos posibles de vida en los que tiene lugar la voz propia, la reflexión crítica y la transformación de la realidad. Mental health refers to the subjective and relational dimension of health; it is an everyday life construction that occurs within the framework of cultural production. Objective: To articulate culture and mental health promotion through the analysis of the practices of two cultural organizations in the city of Medellin, Colombia. Methodology: ethnographic case study, emergent, with interviews, participant observation and documentary review. Results: Participation in cultural processes enables the transformation of the forms of relationship, as well as new ways of constructing subjectivity, giving way to the recognition of oneself and others, solidarity and collective commitment, which speaks of health as the construction of possible ways of life in which one’s own voice, critical reflection and the transformation of reality take place.

Published
2022

23. Resignificando sentidos de vida después de la guerra: mirada desde la inmersión de un trabajador social

Author

Cano Betancur, Catalina

Subjects
Reconocimiento de sí mismos y de los otros, Las y los jóvenes desvinculados, Proyecciones de vida, Espacios mediados por el diálogo
Abstract

Reflexionar a partir del informe de Proyecto Social, denominado Co-construyendo Proyecciones de Vida con las y los jóvenes desvinculados del conflicto armado. Metodología. Cualitativa con un método de reconstrucción de la experiencia. Resultados. Las y los jóvenes buscan un constante reconocimiento en sí mismos y en los otros, distintas orillas que traen consigo las historias de vida; en este caso, la de ser reconocidos como guerreros, como valientes, como sobrevivientes y porque no, como víctimas. Pero también desde las similitudes de la juventud y los acontecimientos que a cualquier joven le acaece, solo por el hecho mismo, de trasegar una etapa, dando paso a otros escenarios que permitan la comprensión y su reconocimiento más allá de las etiquetas que socialmente los encasillan. Conclusión. Se evidencia la imperante necesidad de co-construir a partir de espacios mediados por el dialogo y las narrativas sus proyecciones de vida.

Published
2022
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24. Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels

Author

Riggs, Erin Rooney, primary, Bingaman, Taylor I., additional, Barry, Carrie-Ann, additional, Behlmann, Andrea, additional, Bluske, Krista, additional, Bostwick, Bret, additional, Bright, Alison, additional, Chen, Chun-An, additional, Clause, Amanda R., additional, Dharmadhikari, Avinash V., additional, Ganapathi, Mythily, additional, Gonzaga-Jauregui, Claudia, additional, Grant, Andrew R., additional, Hughes, Madeline Y., additional, Kim, Se Rin, additional, Krause, Amanda, additional, Liao, Jun, additional, Lumaka, Aimé, additional, Mah, Michelle, additional, Maloney, Caitlin M., additional, Mohan, Shruthi, additional, Osei-Owusu, Ikeoluwa A., additional, Reble, Emma, additional, Rennie, Olivia, additional, Savatt, Juliann M., additional, Shimelis, Hermela, additional, Siegert, Rebecca K., additional, Sneddon, Tam P., additional, Thaxton, Courtney, additional, Toner, Kelly A., additional, Tran, Kien Trung, additional, Webb, Ryan, additional, Wilcox, Emma H., additional, Yin, Jiani, additional, Zhuo, Xinming, additional, Znidarsic, Masa, additional, Martin, Christa Lese, additional, Betancur, Catalina, additional, Vorstman, Jacob A.S., additional, Miller, David T., additional, and Schaaf, Christian P., additional

Published
2022
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27. A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism

Author

Celestino-Soper, Patrícia B. S., Violante, Sara, Crawford, Emily L., Luo, Rui, Lionel, Anath C., Delaby, Elsa, Cai, Guiqing, Sadikovic, Bekim, Lee, Kwanghyuk, Lo, Charlene, Gao, Kun, Person, Richard E., Moss, Timothy J., German, Jennifer R., Huang, Ni, Shinawi, Marwan, Treadwell-Deering, Diane, Szatmari, Peter, Roberts, Wendy, Fernandez, Bridget, Schroer, Richard J., Stevenson, Roger E., Buxbaum, Joseph D., Betancur, Catalina, Scherer, Stephen W., Sanders, Stephan J., Geschwind, Daniel H., Sutcliffe, James S., Hurles, Matthew E., Wanders, Ronald J. A., Shaw, Chad A., Leal, Suzanne M., Cook,, Edwin H., Goin-Kochel, Robin P., Vaz, Frédéric M., and Beaudet, Arthur L.

Published
2012

29. Incidencia del Síndrome Confusional (delirio) en un Hospital Universitario Latinoamericano

Author

Oviedo Lugo, Gabriel Fernando, primary, García Martínez, Paola Andrea, additional, Duarte Osorio, Andrés, additional, Rincón, Carlos Javier, additional, López, Alejandra, additional, Chavarría, Roberto, additional, Pineda Betancur, Catalina, additional, García Gil, Natalia, additional, Duarte Ariza, María Natalia, additional, Patiño Trejos, Juan Agustín, additional, Insignares, Juan Sebastián, additional, and Gómez-Restrepo, Carlos, additional

Published
2022
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33. A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

Author

Casey, Jillian P., Magalhaes, Tiago, Conroy, Judith M., Regan, Regina, Shah, Naisha, Anney, Richard, Shields, Denis C., Abrahams, Brett S., Almeida, Joana, Bacchelli, Elena, Bailey, Anthony J., Baird, Gillian, Battaglia, Agatino, Berney, Tom, Bolshakova, Nadia, Bolton, Patrick F., Bourgeron, Thomas, Brennan, Sean, Cali, Phil, Correia, Catarina, Corsello, Christina, Coutanche, Marc, Dawson, Geraldine, de Jonge, Maretha, Delorme, Richard, Duketis, Eftichia, Duque, Frederico, Estes, Annette, Farrar, Penny, Fernandez, Bridget A., Folstein, Susan E., Foley, Suzanne, Fombonne, Eric, Freitag, Christine M., Gilbert, John, Gillberg, Christopher, Glessner, Joseph T., Green, Jonathan, Guter, Stephen J., Hakonarson, Hakon, Holt, Richard, Hughes, Gillian, Hus, Vanessa, Igliozzi, Roberta, Kim, Cecilia, Klauck, Sabine M., Kolevzon, Alexander, Lamb, Janine A., Leboyer, Marion, Le Couteur, Ann, Leventhal, Bennett L., Lord, Catherine, Lund, Sabata C., Maestrini, Elena, Mantoulan, Carine, Marshall, Christian R., McConachie, Helen, McDougle, Christopher J., McGrath, Jane, McMahon, William M., Merikangas, Alison, Miller, Judith, Minopoli, Fiorella, Mirza, Ghazala K., Munson, Jeff, Nelson, Stanley F., Nygren, Gudrun, Oliveira, Guiomar, Pagnamenta, Alistair T., Papanikolaou, Katerina, Parr, Jeremy R., Parrini, Barbara, Pickles, Andrew, Pinto, Dalila, Piven, Joseph, Posey, David J., Poustka, Annemarie, Poustka, Fritz, Ragoussis, Jiannis, Roge, Bernadette, Rutter, Michael L., Sequeira, Ana F., Soorya, Latha, Sousa, Inês, Sykes, Nuala, Stoppioni, Vera, Tancredi, Raffaella, Tauber, Maïté, Thompson, Ann P., Thomson, Susanne, Tsiantis, John, Van Engeland, Herman, Vincent, John B., Volkmar, Fred, Vorstman, Jacob A. S., Wallace, Simon, Wang, Kai, Wassink, Thomas H., White, Kathy, Wing, Kirsty, Wittemeyer, Kerstin, Yaspan, Brian L., Zwaigenbaum, Lonnie, Betancur, Catalina, Buxbaum, Joseph D., Cantor, Rita M., Cook, Edwin H., Coon, Hilary, Cuccaro, Michael L., Geschwind, Daniel H., Haines, Jonathan L., Hallmayer, Joachim, Monaco, Anthony P., Nurnberger, Jr., John I., Pericak-Vance, Margaret A., Schellenberg, Gerard D., Scherer, Stephen W., Sutcliffe, James S., Szatmari, Peter, Vieland, Veronica J., Wijsman, Ellen M., Green, Andrew, Gill, Michael, Gallagher, Louise, Vicente, Astrid, and Ennis, Sean

Published
2012
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36. The emerging role of synaptic cell-adhesion pathways in the pathogenesis of autism spectrum disorders

Author

Betancur, Catalina, Sakurai, Takeshi, and Buxbaum, Joseph D.

Subjects
Medical colleges -- Analysis, Genomics -- Analysis, Autism -- Analysis, Health, Psychology and mental health
Abstract

To link to full-text access for this article, visit this link: http://dx.doi.org/10.1016/j.tins.2009.04.003 Byline: Catalina Betancur (1), Takeshi Sakurai (2)(3)(4)(5)(6), Joseph D. Buxbaum (2)(3)(4)(7)(8) Abstract: Recent advances in genetics and genomics have unveiled numerous cases of autism spectrum disorders (ASDs) associated with rare, causal genetic variations. These findings support a novel view of ASDs in which many independent, individually rare genetic variants, each associated with a very high relative risk, together explain a large proportion of ASDs. Although these rare variants impact diverse pathways, there is accumulating evidence that synaptic pathways, including those involving synaptic cell adhesion, are disrupted in some subjects with ASD. These findings provide insights into the pathogenesis of ASDs and enable the development of model systems with construct validity for specific causes of ASDs. In several neurodevelopmental disorders frequently associated with ASD, including fragile X syndrome, Rett syndrome and tuberous sclerosis, animal models have led to the development of new therapeutic approaches, giving rise to optimism with other causes of ASDs. Author Affiliation: (1) INSERM U952, Universite Pierre et Marie Curie, Paris 75005, France (2) Laboratory of Molecular Neuropsychiatry, Mount Sinai School of Medicine, New York, NY 10029, USA (3) Seaver Autism Center for Research and Treatment, Mount Sinai School of Medicine, New York, NY 10029, USA (4) Department of Psychiatry, Mount Sinai School of Medicine, New York, NY 10029, USA (5) Department of Pharmacology and Systems Therapeutics, Mount Sinai School of Medicine, New York, NY 10029, USA (6) Black Family Stem Cell Institute, Mount Sinai School of Medicine, New York, NY 10029, USA (7) Department of Neuroscience, Mount Sinai School of Medicine, New York, NY 10029, USA (8) Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA

Published
2009

38. Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

Author

Satterstrom, F Kyle, Kosmicki, Jack A, Wang, Jiebiao, Breen, Michael S, De Rubeis, Silvia, An, Joon-Yong, Peng, Minshi, Collins, Ryan, Grove, Jakob, Klei, Lambertus, Stevens, Christine, Reichert, Jennifer, Mulhern, Maureen S, Artomov, Mykyta, Gerges, Sherif, Sheppard, Brooke, Xu, Xinyi, Bhaduri, Aparna, Norman, Utku, Brand, Harrison, Schwartz, Grace, Nguyen, Rachel, Guerrero, Elizabeth E, Dias, Caroline, Autism Sequencing Consortium, iPSYCH-Broad Consortium, Betancur, Catalina, Cook, Edwin H, Gallagher, Louise, Gill, Michael, Sutcliffe, James S, Thurm, Audrey, Zwick, Michael E, Børglum, Anders D, State, Matthew W, Cicek, A Ercument, Talkowski, Michael E, Cutler, David J, Devlin, Bernie, Sanders, Stephan J, Roeder, Kathryn, Daly, Mark J, and Buxbaum, Joseph D

Subjects
Male, Autism Sequencing Consortium, iPSYCH-Broad Consortium, inhibitory neurons, Intellectual and Developmental Disabilities (IDD), Autism, autism spectrum disorder, Medical and Health Sciences, Cohort Studies, Sex Factors, Neurobiology, Gene Frequency, Clinical Research, Exome Sequencing, Genetics, Humans, 2.1 Biological and endogenous factors, Genetic Predisposition to Disease, Developmental, Cell Lineage, Exome, Autistic Disorder, Aetiology, excitatory-inhibitory balance, Cerebral Cortex, Neurons, Pediatric, neurodevelopment, Human Genome, Neurosciences, cell type, cytoskeleton, Biological Sciences, excitatory neurons, Brain Disorders, Phenotype, Mental Health, Gene Expression Regulation, Case-Control Studies, Mutation, Neurological, Female, Missense, Single-Cell Analysis, liability, Developmental Biology
Abstract

We present the largest exome sequencing study of autism spectrum disorder (ASD) to date (n= 35,584 total samples, 11,986 with ASD). Using an enhanced analytical framework to integrate de novo and case-control rare variation, we identify 102 risk genes at a false discovery rate of 0.1 or less. Of these genes, 49 show higher frequencies of disruptive de novo variants in individuals ascertained to have severe neurodevelopmental delay, whereas 53 show higher frequencies in individuals ascertained to have ASD; comparing ASD cases with mutations in these groups reveals phenotypic differences. Expressed early in brain development, most risk genes have roles in regulation of gene expression or neuronal communication (i.e., mutations effect neurodevelopmental and neurophysiological changes), and 13 fall within loci recurrently hit by copy number variants. In cells from the human cortex, expression of risk genes is enriched in excitatory and inhibitory neuronal lineages, consistent with multiple paths to an excitatory-inhibitory imbalance underlying ASD.

Published
2020

41. Contributors

Author

Adams, Sarrita, primary, Amaral, David G., additional, Anagnostou, Evdokia, additional, Anney, Richard J.L., additional, Auyeung, Bonnie, additional, Baron-Cohen, Simon, additional, Barton, Marianne L., additional, Bauman, Margaret L., additional, Bauman, Melissa D., additional, Berman, Jeffrey, additional, Bertone, Armando, additional, Betancur, Catalina, additional, Blatt, Gene J., additional, Ted Brown, W., additional, Buxbaum, Joseph D., additional, Cai, Guiqing, additional, Carpenter, Laura A., additional, Casanova, Manuel F., additional, Cohen, Ira L., additional, Coleman, Mary, additional, Cook, Edwin H., additional, Eloi Akintude, Majannie, additional, Fan, Jin, additional, Fein, Deborah A., additional, Fombonne, Eric, additional, French, Lisa R., additional, Fukumoto, Keita, additional, Günal, Ozlem Bozdagi, additional, Harony, Hala, additional, Hertz-Picciotto, Irva, additional, Heuer, Luke, additional, Hof, Patrick R., additional, Hultman, Christina M., additional, Hyde, Krista L., additional, Imaki, Humi, additional, Jiang, Yong-hui, additional, Kemper, Thomas L., additional, Kim, So Hyun (Sophy), additional, Kolevzon, Alexander, additional, Kuchna, Izabela, additional, Kushki, Azadeh, additional, Kwok, Showming, additional, LaSalle, Janine M., additional, Levine, Stephen Z., additional, Lionel, Anath C., additional, London, Eric, additional, Lord, Catherine, additional, Lyall, Kristen, additional, Ma, Shuang Yong, additional, Marshall, Christian R., additional, McDougle, Christopher J., additional, McKeever, Caitlyn, additional, McPartland, James C., additional, Mellios, Nikolaos, additional, Morgan, John T., additional, Moy, Sheryl S., additional, Muotri, Alysson Renato, additional, Naviaux, Robert K., additional, Nomura, Jun, additional, Nordahl, Christine Wu, additional, Nowicki, Krzysztof, additional, Orinstein, Alyssa, additional, Reichenberg, Abraham, additional, Roberts, Timothy P.L., additional, Sandin, Sven, additional, Schanen, N. Carolyn, additional, Scherer, Stephen W., additional, Schmidt, Rebecca, additional, Schumann, Cynthia M., additional, Soorya, Latha V., additional, Stigler, Kimberly A., additional, Sur, Mriganka, additional, Takumi, Toru, additional, Troyb, Eva, additional, Uppal, Neha, additional, Van de Water, Judy, additional, Verma, Ragini, additional, Volkmar, Fred R., additional, Warren, Zachary, additional, Wegiel, Jarek, additional, Wegiel, Jerzy, additional, Wetsel, William C., additional, and Wisniewski, Thomas, additional

Published
2013
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48. Individual common variants exert weak effects on the risk for autism spectrum disorderspi

Author

Anney, Richard, Klei, Lambertus, Pinto, Dalila, Almeida, Joana, Bacchelli, Elena, Baird, Gillian, Bolshakova, Nadia, Bölte, Sven, Bolton, Patrick F., Bourgeron, Thomas, Brennan, Sean, Brian, Jessica, Casey, Jillian, Conroy, Judith, Correia, Catarina, Corsello, Christina, Crawford, Emily L., de Jonge, Maretha, Delorme, Richard, Duketis, Eftichia, Duque, Frederico, Estes, Annette, Farrar, Penny, Fernandez, Bridget A., Folstein, Susan E., Fombonne, Eric, Gilbert, John, Gillberg, Christopher, Glessner, Joseph T., Green, Andrew, Green, Jonathan, Guter, Stephen J., Heron, Elizabeth A., Holt, Richard, Howe, Jennifer L., Hughes, Gillian, Hus, Vanessa, Igliozzi, Roberta, Jacob, Suma, Kenny, Graham P., Kim, Cecilia, Kolevzon, Alexander, Kustanovich, Vlad, Lajonchere, Clara M., Lamb, Janine A., Law-Smith, Miriam, Leboyer, Marion, Le Couteur, Ann, Leventhal, Bennett L., Liu, Xiao-Qing, Lombard, Frances, Lord, Catherine, Lotspeich, Linda, Lund, Sabata C., Magalhaes, Tiago R., Mantoulan, Carine, McDougle, Christopher J., Melhem, Nadine M., Merikangas, Alison, Minshew, Nancy J., Mirza, Ghazala K., Munson, Jeff, Noakes, Carolyn, Nygren, Gudrun, Papanikolaou, Katerina, Pagnamenta, Alistair T., Parrini, Barbara, Paton, Tara, Pickles, Andrew, Posey, David J., Poustka, Fritz, Ragoussis, Jiannis, Regan, Regina, Roberts, Wendy, Roeder, Kathryn, Roge, Bernadette, Rutter, Michael L., Schlitt, Sabine, Shah, Naisha, Sheffield, Val C., Soorya, Latha, Sousa, Inês, Stoppioni, Vera, Sykes, Nuala, Tancredi, Raffaella, Thompson, Ann P., Thomson, Susanne, Tryfon, Ana, Tsiantis, John, Van Engeland, Herman, Vincent, John B., Volkmar, Fred, Vorstman, JAS, Wallace, Simon, Wing, Kirsty, Wittemeyer, Kerstin, Wood, Shawn, Zurawiecki, Danielle, Zwaigenbaum, Lonnie, Bailey, Anthony J., Battaglia, Agatino, Cantor, Rita M., Coon, Hilary, Cuccaro, Michael L., Dawson, Geraldine, Ennis, Sean, Freitag, Christine M., Geschwind, Daniel H., Haines, Jonathan L., Klauck, Sabine M., McMahon, William M., Maestrini, Elena, Miller, Judith, Monaco, Anthony P., Nelson, Stanley F., Nurnberger, John I., Jr., Oliveira, Guiomar, Parr, Jeremy R., Pericak-Vance, Margaret A., Piven, Joseph, Schellenberg, Gerard D., Scherer, Stephen W., Vicente, Astrid M., Wassink, Thomas H., Wijsman, Ellen M., Betancur, Catalina, Buxbaum, Joseph D., Cook, Edwin H., Gallagher, Louise, Gill, Michael, Hallmayer, Joachim, Paterson, Andrew D., Sutcliffe, James S., Szatmari, Peter, Vieland, Veronica J., Hakonarson, Hakon, and Devlin, Bernie

Published
2012
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49. Strong evidence for genotype–phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium.

Author

Levy, Tess, Foss-Feig, Jennifer H, Betancur, Catalina, Siper, Paige M, Trelles-Thorne, Maria del Pilar, Halpern, Danielle, Frank, Yitzchak, Lozano, Reymundo, Layton, Christina, Britvan, Bari, Bernstein, Jonathan A, Buxbaum, Joseph D, Berry-Kravis, Elizabeth, Powell, Craig M, Srivastava, Siddharth, Sahin, Mustafa, Soorya, Latha, Thurm, Audrey, Kolevzon, Alexander, and Consortium, the Developmental Synaptopathies

Published
2022
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