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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
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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
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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. |
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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. |
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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
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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
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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
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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. |
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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
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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
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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
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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. |
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