ORCA
Online Research @ Cardiff

Clear Cookie - decide language by browser settings

Browse by Current Cardiff authors

Number of items: 21.

Chawner, Samuel J. R. A., Watson, Cameron J. and Owen, Michael J. 2021. Clinical evaluation of patients with a neuropsychiatric risk copy number variant. Current Opinion in Genetics and Development 68 , pp. 26-34. 10.1016/j.gde.2020.12.012

Chawner, Samuel, Doherty, Joanne L., Anney, Richard, Antshel, Kevin M., Bearden, Carrie E., Bernier, Raphael, Chung, Wendy K., Clements, Caitlin C., Curran, Sarah R., Cuturilo, Goran, Fiksinski, Ania M., Gallagher, Louise, Goin-Koche, Robin P., Kushan, Leila, Gur, Raquel E., Hanson, Ellen, Jacquemont, Sebastien, Kates, Wendy R., Maillard, Anne M., McDonald-McGinn, Donna M., MihaljevicMihaljevic, Marina Mihaljevic, Miller, Judith S., Moss, Hayley, Pejovic-Milovancevic, Milica, Schultz, Robert T., Green-Snyder, LeeAnne, Vorstman, Jacob A., Wenger, Tara L., Hall, Jeremy, Owen, Michael J. and van den Bree, Marianne B.M. 2021. A genetics-first approach to dissecting the heterogeneity of autism: phenotypic comparison of autism risk copy number variants. American Journal of Psychiatry 178 (1) , pp. 77-86. 10.1176/appi.ajp.2020.20010015
Item availability restricted.

Fiksinski, Ania M., Schneider, Maude, Zinkstok, Janneke, Baribeau, Danielle, Chawner, Samuel J. R. A. and Vorstman, Jacob A. S. 2021. Neurodevelopmental trajectories and psychiatric morbidity: lessons learned from the 22q11.2 deletion syndrome. Current Psychiatry Reports
Item availability restricted.

Davies, Robert, Fiksinski, Ania, Breetvelt, Elemi, Williams, Nigel M., Hooper, Stephen R., Monfueuga, Thomas, Bassett, Anne S., Owen, Michal J., Gur, Raquel E., Morrow, Bernice E., McDonald-McGinn, Donna M., Swillen, Ann, Chow, Eva W. C., van den Bree, Marianne, Emanuel, Beverly S., Vermeesch, Joris R., van Amelsvoort, Therese, Arango, Celso, Armando, Marco, Campbell, Linda E., Cubells, Joseph F., Eliez, Stephan, Garia-Minaur, Sixto, Gothelf, Doron, Kates, Wendy R., Murphy, Kieran C., Murphy, Clodagh M., Murphy, Declan G., Philip, Nicole, Repetto, Gabriela M., Shashi, Vandana, Simon, Tony J., Suñer, Damiàn H., Vicari, Stefano, Scherer, Stephen W., Brain and Behavior Consortium, ., Bearden, Carrie E., Vorstman, Jacob A. S. and Chawner, Samuel 2020. Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 Deletion Syndrome. Nature Medicine 26 , pp. 1912-1918. 10.1038/s41591-020-1103-1
Item availability restricted.

Chawner, Samuel J. R. A., Mihaljevic, Marina, Morrison, Sinead, Eser, Hale Yapici, Maillard, Ann M., Nowakowska, Beata, MINDDS Consortium, , van den Bree, Marianne B. M. and Swillen, Ann 2020. Pan-European landscape of research into neurodevelopmental copy number variants: a survey by the MINDDS consortium. European Journal of Medical Genetics 63 (12) , 104093. 10.1016/j.ejmg.2020.104093

Drakulic, Danijela, Djurovic, Srdjan, Syed, Yasir Ahmed, Trattaro, Sebastiano, Caporale, Nicolò, Falk, Anna, Ofir, Rivka, Heine, Vivi M., Chawner, Samuel J. R. A., Rodriguez-Moreno, Antonio, van den Bree, Marianne B. M., Testa, Giuseppe, Petrakis, Spyros and Harwood, Adrian J. 2020. Copy number variants (CNVs): a powerful tool for iPSC-based modelling of ASD. Molecular Autism 11 (1) , 42. 10.1186/s13229-020-00343-4

Morrison, Sinead, Chawner, Samuel J. R. A., van Amelsvoort, Therese A. M. J., Swillen, Ann, Vingerhoets, Claudia, Vergaelen, Elfi, Linden, David E. J., Linden, Stefanie, Owen, Michael J. and van den Bree, Marianne B. M. 2020. Cognitive deficits in childhood, adolescence and adulthood in 22q11.2 deletion syndrome and association with psychopathology. Translational Psychiatry 10 , 53. 10.1038/s41398-020-0736-7

Linden, Stefanie C., Watson, Cameron J., Smith, Jacqueline, Chawner, Samuel J. R. A., Lancaster, Thomas M., Evans, Ffion, Williams, Nigel, Skuse, David, Raymond, F. Lucy, Hall, Jeremy, Owen, Michael J., Linden, David E. J., Green-Snyder, LeeAnne, Chung, Wendy K., Maillard, Anne M., Jacquemont, Sébastien and van den Bree, Marianne B. M. 2020. The psychiatric phenotypes of 1q21 distal deletion and duplication. Translational Psychiatry
Item availability restricted.

Chawner, Samuel J. R. A., Owen, Michael J., Holmans, Peter, Raymond, F. Lucy, Skuse, David, Skuse, David, Hall, Jeremy and van den Bree, Marianne B. M. 2019. Genotype–phenotype associations in children with copy number variants associated with high neuropsychiatric risk in the UK (IMAGINE-ID): a case-control cohort study. Lancet Psychiatry 6 (6) , 493 - 505. 10.1016/S2215-0366(19)30123-3

Chawner, Samuel, Owen, Michael J., Holmans, Peter, Raymond, Lucy, Skuse, David, Hall, Jeremy and van den Bree, Marianne 2019. Genotype-phenotype relationships in children with copy number variants associated with high neuropsychiatric risk: Findings from the Intellectual Disability & Mental Health: Assessing the Genomic Impact on Neurodevelopment (IMAGINE-ID) study. bioRxiv 10.1101/535708

Niarchou, Maria, Chawner, Samuel, Fiksinski, Ania, Vorstman, Jacob A.S., Maeder, Johanna, Schneider, Maude, Eliez, Stephan, Armando, Marco, Pontillo, Maria, Vicari, Stefano, McDonald-McGinn, Donna M., Emanuel, Beverly, Zackai, Elaine, Bearden, Carrie E., Shashi, Vandana, Hooper, Stephen R., Owen, Michael J., Gur, Raquel A., Wray, Naomi R., van den Bree, Marianne and Thapar, Anita 2019. Attention deficit hyperactivity disorder symptoms as antecedents of later psychotic outcomes in 22q11.2 deletion syndrome. Schizophrenia Research 204 , pp. 320-325. 10.1016/j.schres.2018.07.044

Niarchou, Maria, Chawner, Samuel J.R.A., Doherty, Joanne L., Maillard, Anne M., Jacquemont, Sbastien, Chung, Wendy K., Green-Snyder, LeeAnne, Bernier, Raphael A., Goin-Kochel, Robin P., Hanson, Ellen, Linden, David E. J., Linden, Stefanie C., Raymond, F. Lucy, Skuse, David, Hall, Jeremy, Owen, Michael J. and Van Den Bree, Marianne B. M. 2019. Psychiatric disorders in children with 16p11.2 deletion and duplication. Translational Psychiatry 10.1038/s41398-018-0339-8

Chawner, Samuel J.R.A., Niarchou, Maria, Doherty, Joanne L., Moss, Hayley, Owen, Michael J. and Van Den Bree, Marianne 2018. The emergence of psychotic experiences in the early adolescence of 22q11.2 Deletion Syndrome. Journal of Psychiatric Research 109 , pp. 10-17. 10.1016/j.jpsychires.2018.11.002

Zhao, Yingjie, Guo, Tingwei, Fiksinski, Ania, Breetvelt, Elemi, McDonald-McGinn, Donna M., Crowley, Terrence B., Diacou, Alexander, Schneider, Maude, Eliez, Stephan, Swillen, Ann, Breckpot, Jeroen, Vermeesch, Joris, Chow, Eva W. C., Gothelf, Doron, Duijff, Sasja, Evers, Rens, van Amelsvoort, Thérèse A., Van Den Bree, Marianne, Owen, Michael, Niarchou, Maria, Bearden, Carrie E., Ornstein, Claudia, Pontillo, Maria, Buzzanca, Antonino, Vicari, Stefano, Armando, Marco, Murphy, Kieran C., Murphy, Clodagh, Garcia-Minaur, Sixto, Philip, Nicole, Campbell, Linda, Morey-Cañellas, Jaume, Raventos, Jasna, Rosell, Jordi, Heine-Suner, Damian, Shprintzen, Robert J., Gur, Raquel E., Zackai, Elaine, Emanuel, Beverly S., Wang, Tao, Kates, Wendy R., Bassett, Anne S., Vorstman, Jacob A. S., Morrow, Bernice E., International 22q11.2, Brain and Behavior Consortium and Chawner, Samuel 2018. Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects. American Journal of Medical Genetics Part A 176 (10) , pp. 2172-2181. 10.1002/ajmg.a.40359

Guo, Tingwei, Diacou, Alexander, Nomaru, Hiroko, McDonald-McGinn, Donna M, Hestand, Matthew, Demaerel, Wolfram, Zhang, Liangtian, Zhao, Yingjie, Ujueta, Francisco, Shan, Jidong, Montagna, Cristina, Zheng, Deyou, Crowley, Terrence B, Kushan-Wells, Leila, Bearden, Carrie E, Kates, Wendy R, Gothelf, Doron, Schneider, Maude, Eliez, Stephan, Breckpot, Jeroen, Swillen, Ann, Vorstman, Jacob, Zackai, Elaine, Benavides Gonzalez, Felipe, Repetto, Gabriela M, Emanuel, Beverly S, Bassett, Anne S, Vermeesch, Joris R, Marshall, Christian R, Morrow, Bernice E and Chawner, Samuel 2018. Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2. Human Molecular Genetics 27 (7) , pp. 1150-1163. 10.1093/hmg/ddy028

Morrison, Sinead, Chawner, Samuel, van Amelsvoort, Therese, Swillen, Ann, Vergaelen, Elfi, Owen, Michael and Van Den Bree, Marianne 2018. Vulnerable periods for cognitive development in individuals at high genomic risk of schizophrenia [Conference Abstract]. Schizophrenia Bulletin 44 (suppl) , S86. 10.1093/schbul/sby015.214

Chawner, Samuel, Doherty, Joanne L., Moss, Hayley, Niarchou, Maria, Walters, James, Owen, Michael J. and Van Den Bree, Marianne Bernadette 2017. Childhood cognitive development in 22q11.2 deletion syndrome: case–control study. British Journal of Psychiatry 211 (4) , pp. 223-230. 10.1192/bjp.bp.116.195651

Aas, Monica, Blokland, Gabriëlla A.M., Chawner, Samuel, Choi, Shing-Wan, Estrada, Jose, Forsingdal, Annika, Friedrich, Maximilian, Ganesham, Suhas, Hall, Lynsey, Haslinger, Denise, Huckins, Laura, Loken, Erik, Malan-Müller, Stefanie, Martin, Joanna, Misiewicz, Zuzanna, Pagliaroli, Luca, Pardinas, Antonio, Pisanu, Claudia, Quadri, Giorgia, Santoro, Marcos L., Shaw, Alex D., Ranlund, Siri, Song, Jie, Tesli, Martin, Tropeano, Maria, van der Voet, Monique, Wolfe, Kate, Cormack, Freida K. and DeLisi, Lynn 2016. Summaries of plenary, symposia, and oral sessions at the XXII World Congress of Psychiatric Genetics, Copenhagen, Denmark, 12-16 October 2014 [Conference Material]. Psychiatric Genetics 26 (1) , pp. 1-47. 10.1097/YPG.0000000000000112

D'Angelo, Debra, Lebon, Sébastien, Chen, Qixuan, Martin-Brevet, Sandra, Snyder, LeeAnne Green, Hippolyte, Loyse, Hanson, Ellen, Maillard, Anne M., Faucett, W. Andrew, Macé, Aurélien, Pain, Aurélie, Bernier, Raphael, Chawner, Samuel, David, Albert, Andrieux, Joris, Aylward, Elizabeth, Baujat, Genevieve, Caldeira, Ines, Conus, Philippe, Ferrari, Carrina, Forzano, Francesca, Gérard, Marion, Goin-Kochel, Robin P., Grant, Ellen, Hunter, Jill V., Isidor, Bertrand, Jacquette, Aurélia, Jønch, Aia E., Keren, Boris, Lacombe, Didier, Le Caignec, Cédric, Martin, Christa Lese, Männik, Katrin, Metspalu, Andres, Mignot, Cyril, Mukherjee, Pratik, Owen, Michael John, Passeggeri, Marzia, Rooryck-Thambo, Caroline, Rosenfeld, Jill A., Spence, Sarah J., Steinman, Kyle J., Tjernagel, Jennifer, Van Haelst, Mieke, Shen, Yiping, Draganski, Bogdan, Sherr, Elliott H., Ledbetter, David H., Van Den Bree, Marianne Bernadette, Beckmann, Jacques S., Spiro, John E., Reymond, Alexandre, Jacquemont, Sébastien and Chung, Wendy K. 2016. Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities. JAMA Psychiatry 73 (1) , pp. 20-30. 10.1001/jamapsychiatry.2015.2123

Maillard, A. M., Hippolyte, L., Rodriguez-Herreros, B., Chawner, Samuel, Dremmel, D., Agüera, Z., Fagundo, A.B., Pain, A., Martin-Brevet, S., Hilbert, A., Kurz, S., Etienne, R., Draganski, B., Jimenez-Murcia, S., Männik, K., Metspalu, A., Reigo, A., Isidor, B., Le Caignec, C., David, A., Mignot, C., Keren, B., Van Den Bree, Marianne Bernadette, Munsch, S., Fernandez-Aranda, F., Beckmann, J. S., Reymond, A. and Jacquemont, S. 2015. 16p11.2 Locus modulates response to satiety before the onset of obesity. International Journal of Obesity 40 (5) , pp. 870-876. 10.1038/ijo.2015.247

Chawner, Samuel 2015. Longitudinal follow-up of 22q11.2 Deletion Syndrome: a study of individuals at high risk of schizophrenia. PhD Thesis, Cardiff University.
Item availability restricted.

This list was generated on Fri Jan 22 04:11:39 2021 GMT.

Export as	Atom RSS 1.0 RSS 2.0