Cardiff University | Prifysgol Caerdydd ORCA
Online Research @ Cardiff 
WelshClear Cookie - decide language by browser settings

Browse by All Cardiff Authors

[up] Up a level
Number of items: 39.

Rubino, Laura, Bulik, Cynthia M., Chawner, Samuel J. R. A. and Micali, Nadia 2025. Pica in childhood: concurrent and sequential psychiatric comorbidity. International Journal of Eating Disorders 10.1002/eat.24491
file

Walker, Alicia, Karlsson, Robert, Szatkiewicz, Jin P., Thornton, Laura M., Yilmaz, Zeynep, Leppa, Virpi M., Savva, Androula, Lin, Tian, Sidorenko, Julia, McRae, Allan, Kirov, George ORCID: https://orcid.org/0000-0002-3427-3950, Davies, Helena L., Fundin, Bengt T., Chawner, Samuel J. R. A., Song, Jie, Borg, Stina, Jia, Wen, Watson, Hunna J., Munn-Chernoff, Melissa A., Baker, Jessica H., Gordon, Scott, Berrettina, Wade H., Brandt, Harry, Crawford, Steven, Halmi, Katherine A., Kaplan, Allan S., Kaye, Walter H., Mitchell, James, Strober, Michael, Woodside, D. Blake, Pedersen, Nancy L., Parker, Richard, Jordan, Jennifer, Kennedy, Martin A., Birgegard, Andreas, Landen, Mikael, Martin, Nicholas G., Sullivan, Patrick F., Bulik, Cynthia M. and Wray, Naomi R. 2025. Genome-wide copy number variation association study in anorexia nervosa. Molecular Psychiatry 30 , pp. 2009-2016. 10.1038/s41380-024-02811-2
file

Ali, Nabila M.H, Chawner, Samuel, Kushan-Wells, Leila, Bearden, Carrie, Mulle, Jennifer Gladys, Pollak, Rebecca, Gur, Raquel, Ghung, Wendy, Owen, Michael ORCID: https://orcid.org/0000-0003-4798-0862 and Van Den Bree, Marianne ORCID: https://orcid.org/0000-0002-4426-3254 2025. Comparison of autism domains across thirty rare variant genotypes. EBioMedicine 112 , 105521. 10.1016/j.ebiom.2024.105521
file

Gur, Ruben C., Bearden, Carrie E., Jacquemont, Sebastien, Swillen, Ann, van Amelsvoort, Therese, van den Bree, Marianne ORCID: https://orcid.org/0000-0002-4426-3254, Vorstman, Jacob, Sebat, Jonathan, Ruparel, Kosha, Gallagher, Robert Sean, McClellan, Emily, White, Lauren, Crowley, Terrence Blaine, Giunta, Victoria, Kushan, Leila, O'Hora, Kathleen, Verbesselt, Jente, Vandensande, Ans, Vingerhoets, Claudia, van Haelst, Mieke, Hall, Jessica, Harwood, Janet, Chawner, Samuel J. R. A., Patel, Nishi, Palad, Katrina, Hong, Oanh, Guevara, James, Martin, Charles Olivier, Jizi, Khadije, Bélanger, Anne-Marie, Scherer, Stephen W., Bassett, Anne S., McDonald-McGinn, Donna M. and Gur, Raquel E. 2025. Neurocognitive profiles of 22q11.2 and 16p11.2 deletions and duplications. Molecular Psychiatry 30 , pp. 379-387. 10.1038/s41380-024-02661-y
file

Rubino, Laura, Bulik, Cynthia, Chawner, Samuel and Micali, Nadia 2025. Pica in childhood: concurrent and sequential psychiatric comorbidity. [Online]. medRxiv: OpenRxiv. Available at: https://doi.org/10.1101/2025.02.01.25321515
file

Lee, I. O., Wolstencroft, J., Housby, H., van den Bree, M. B. M. ORCID: https://orcid.org/0000-0002-4426-3254, Chawner, S. J. R. A., Hall, J. ORCID: https://orcid.org/0000-0003-2737-9009, IMAGINE ID Consortium and Skuse, D. H. 2024. The inequity of education, health and care plan provision for children and young people with intellectual and developmental disabilities. Journal of Intellectual Disability Research 68 (10) , pp. 1167-1183. 10.1111/jir.13139
file

Hall, Jessica H., Chawner, Samuel J. R. A., Wolstencroft, Jeanne, Skuse, David, Hall, Jeremy ORCID: https://orcid.org/0000-0003-2737-9009, Holmans, Peter ORCID: https://orcid.org/0000-0003-0870-9412, Owen, Michael J. ORCID: https://orcid.org/0000-0003-4798-0862 and van den Bree, Marianne B. M. ORCID: https://orcid.org/0000-0002-4426-3254 2024. Irritability in young people with copy number variants associated with neurodevelopmental disorders (ND-CNVs). Translational Psychiatry 14 (1) , 259. 10.1038/s41398-024-02975-z
file

Papini, Natalie M., Bulik, Cynthia M., Chawner, Samuel J. R. A. and Micali, Nadia 2024. Prevalence and recurrence of pica behaviors in early childhood within the ALSPAC birth cohort. International Journal of Eating Disorders 57 (2) , pp. 400-409. 10.1002/eat.24111
file

Doherty, Joanne L., Cunningham, Adam C., Chawner, Samuel J. R. A., Moss, Hayley M., Dima, Diana C. ORCID: https://orcid.org/0000-0002-9612-5574, Linden, David E. J. ORCID: https://orcid.org/0000-0002-5638-9292, Owen, Michael J. ORCID: https://orcid.org/0000-0003-4798-0862, van den Bree, Marianne B. M. ORCID: https://orcid.org/0000-0002-4426-3254 and Singh, Krish D. ORCID: https://orcid.org/0000-0002-3094-2475 2024. Atypical cortical networks in children at high-genetic risk of psychiatric and eurodevelopmental disorders. Neuropsychopharmacology 49 , pp. 368-376. 10.1038/s41386-023-01628-x
file

Chawner, Samuel J.R.A, Paine, Amy L. ORCID: https://orcid.org/0000-0002-9025-3719, Dunn, Matt J. ORCID: https://orcid.org/0000-0002-0295-2182, Walsh, Alice, Sloane, Poppy, Thomas, Megan, Evans, Alexandra ORCID: https://orcid.org/0000-0002-7718-4413, Hopkin-Jones, Lucinda, Struik, Siske, Hall, Jeremy ORCID: https://orcid.org/0000-0003-2737-9009, Erichsen, Jonathan T. ORCID: https://orcid.org/0000-0003-1545-9853, Leekam, Susan R. ORCID: https://orcid.org/0000-0002-1122-0135, Owen, Michael J. ORCID: https://orcid.org/0000-0003-4798-0862, Hay, Dale ORCID: https://orcid.org/0000-0003-2505-0453 and van den Bree, Marianne B. M. ORCID: https://orcid.org/0000-0002-4426-3254 2023. Neurodevelopmental dimensional assessment of young children at high genomic risk of neuropsychiatric conditions. JCPP Advances 3 (2) , e12162. 10.1002/jcv2.12162
file

Niarchou, Maria, Cunningham, Adam, Chawner, Samuel, Moulding, Hayley, Sopp, Matthew, Hall, Jeremy ORCID: https://orcid.org/0000-0003-2737-9009, Owen, Michael ORCID: https://orcid.org/0000-0003-4798-0862 and van den Bree, Marianne ORCID: https://orcid.org/0000-0002-4426-3254 2023. Psychopathology in mothers of children with pathogenic copy number variants. Journal of Medical Genetics 60 , pp. 706-711. 10.1136/jmg-2022-108752
file

Donnelly, Nicholas, Cunningham, Adam, Salas, Sergio Marco, Bracher-Smith, Matthew, Chawner, Samuel, Stochl, Jan, Ford, Tamsin, Raymond, F. Lucy, Escott-Price, Valentina ORCID: https://orcid.org/0000-0003-1784-5483 and van den Bree, Marianne B. M. ORCID: https://orcid.org/0000-0002-4426-3254 2023. Identifying the neurodevelopmental and psychiatric signatures of genomic disorders associated with intellectual disability: a machine learning approach. Molecular Autism 14 (1) , 19. 10.1186/s13229-023-00549-2
file

Lynham, Amy J. ORCID: https://orcid.org/0000-0002-3189-6888, Knott, Sarah, Underwood, Jack F. G. ORCID: https://orcid.org/0000-0003-1731-6039, Hubbard, Leon, Agha, Sharifah S. ORCID: https://orcid.org/0000-0001-9541-6786, Bisson, Jonathan I. ORCID: https://orcid.org/0000-0001-5170-1243, van den Bree, Marianne B. M. ORCID: https://orcid.org/0000-0002-4426-3254, Chawner, Samuel J. R. A., Craddock, Nicholas ORCID: https://orcid.org/0000-0003-2171-0610, O'Donovan, Michael ORCID: https://orcid.org/0000-0001-7073-2379, Jones, Ian R. ORCID: https://orcid.org/0000-0001-5821-5889, Kirov, George ORCID: https://orcid.org/0000-0002-3427-3950, Langley, Kate ORCID: https://orcid.org/0000-0002-2033-2657, Martin, Joanna ORCID: https://orcid.org/0000-0002-8911-3479, Rice, Frances ORCID: https://orcid.org/0000-0002-9484-1729, Roberts, Neil P., Thapar, Anita ORCID: https://orcid.org/0000-0002-3689-737X, Anney, Richard ORCID: https://orcid.org/0000-0002-6083-407X, Owen, Michael J. ORCID: https://orcid.org/0000-0003-4798-0862, Hall, Jeremy ORCID: https://orcid.org/0000-0003-2737-9009, Pardinas, Antonio F. ORCID: https://orcid.org/0000-0001-6845-7590 and Walters, James T. R. ORCID: https://orcid.org/0000-0002-6980-4053 2023. DRAGON-Data: A platform and protocol for integrating genomic and phenotypic data across large psychiatric cohorts. BJPsych Open 9 (2) , e32. 10.1192/bjo.2022.636
filefile

Chawner, Samuel J. R. A., Evans, Alexandra ORCID: https://orcid.org/0000-0002-7718-4413, IMAGINE-ID consortium, Williams, Nigel ORCID: https://orcid.org/0000-0003-1177-6931, Owen, Michael J. ORCID: https://orcid.org/0000-0003-4798-0862, Hall, Jeremy ORCID: https://orcid.org/0000-0003-2737-9009 and van den Bree, Marianne B. M. ORCID: https://orcid.org/0000-0002-4426-3254 2023. Sleep disturbance as a transdiagnostic marker of psychiatric risk in children with neurodevelopmental risk genetic conditions. Translational Psychiatry 13 , 7. 10.1038/s41398-022-02296-z
file

Chawner, Samuel and Owen, Michael ORCID: https://orcid.org/0000-0003-4798-0862 2022. Autism: a model of neurodevelopmental diversity informed by genomics. Frontiers in Psychiatry 13 , 981691. 10.3389/fpsyt.2022.981691
file

Wolstencroft, Jeanne, Wicks, Francesca, Srinivasan, Ramya, Wynn, Sarah, Ford, Tamsin, Baker, Kate, Chawner, Samuel J. R. A., Hall, Jeremy ORCID: https://orcid.org/0000-0003-2737-9009, van den Bree, Marianne B. M. ORCID: https://orcid.org/0000-0002-4426-3254, Owen, Michael J. ORCID: https://orcid.org/0000-0003-4798-0862, Skuse, David, Raymond, F. Lucy, Wolstencroft, Jeanne, Wicks, Francesca, Srinivasan, Ramya, Erwood, Marie, Lafont, Amy, Timur, Husne, Ye, Zheng, Walker, Susan, Printzlau, Frida, Juj, Manoj, Davies, Sarah, Denyer, Hayley, Watkins, Alice, Kerry, Eleanor, Coscini, Nadia, Fatih, Nasrtullah, Lucock, Anna, Denaxas, Spiros, Mandy, William, Walker, Neil, Wallwork, Sarah, Dewhurst, Eleanor, Cuthbert, Andrew, Challenger, Aimee, Andrews, Sophie, Holmans, Peter, Bowen, Samantha, Bradley, Karen, Birch, Philippa, Tong, Molly, Lewis, Nicola, Ray, Sinead, Sopp, Matthew, Moss, Hayley, Wynn, Sarah, Searle, Beverley, Robertson, Lisa, Berg, Jonathan, Lampe, Anne, Joss, Shelagh, Brennan, Paul, Kraus, Alison, Lahiri, Nayana, Weber, Astrid, Rawson, Myfanwy, Johnson, Diana, Vasudevan, Pradeep, Harrison, Rachel, Williams, Denise, Maher, Eamonn, Kini, Usha, Van Dijk, Fleur, Clowes, Virginia, Gurasashvilli, Jana, Mansour, Sahar, Holder-Espinasse, Muriel, Watford, Amy, Rankin, Julia, Baralle, Diana, Procter, Annie, Ford, Tamsin, Baker, Kate, Chawner, Samuel, Hall, Jeremy, Van den Bree, Marianne B. M., Owen, Michael J., Skuse, David and Raymond, F. Lucy 2022. Neuropsychiatric risk in children with intellectual disability of genetic origin: IMAGINE, a UK national cohort study. The Lancet Psychiatry 9 (9) , pp. 715-724. 10.1016/S2215-0366(22)00207-3
file

Jacquemont, Sébastien, Huguet, Guillaume, Klein, Marieke, Chawner, Samuel J.R.A., Donald, Kirsten A., van den Bree, Marianne B.M. ORCID: https://orcid.org/0000-0002-4426-3254, Sebat, Jonathan, Ledbetter, David H., Constantino, John, Earl, Rachel K., McDonald-McGinn, Donna, van Amelsvoort, Therese, Swillen, Ann, O'Donnell-Luria, Anne H, Glahn, David C., Almasy, Laura, Scherer, Stephen, Robinson, Elise, Bassett, Anne S., Martin, Christa L., Finucane, Brenda, Vorstman, Jacob A.S., Bearden, Carrie E. and Gur, Raquel E. 2022. Genes To Mental Health (G2MH): A framework to map the combined effects of rare and common variants on dimensions of cognition and psychopathology. American Journal of Psychiatry 179 (3) , pp. 189-203. 10.1176/appi.ajp.2021.21040432
file

Wolstencroft, Jeanne, Wicks, Francesca, Srinivasan, Ramya, Wynn, Sarah, Ford, Tamsin, Baker, Kate, Chawner, Samuel, Hall, Jeremy ORCID: https://orcid.org/0000-0003-2737-9009, van den Bree, Marianne ORCID: https://orcid.org/0000-0002-4426-3254, Owen, Michael J. ORCID: https://orcid.org/0000-0003-4798-0862, IMAGINE Consortium, Skuse, David, Raymond, F. Lucy, Erwood, Marie, Lafont, Amy, Timur, Husniye, Ye, Zheng, Walker, Susan, Printzlau, Frida, Juj, Manoj, Davies, Sarah, Denver, Hayley, Watkins, Alice, Kerry, Eleanor, Lucock, Anna, Fatih, Nasratullay, Robertson, Lisa, Berg, Jonathan, Lampe, Anne, Joss, Shelagh, Brennan, Paul, Kraus, Alison, Weber, Astrid, Rawson, Myfanwy, Johnson, Diana, Vasudevan, Pradeep, Harrison, Rachel, Williams, Denise, Maher, Eamonn, Kini, Usha, Clowes, Virginia, Gurasashvili, Jana, Mansour, Sahar, Holder-Espinasse, Muriel, Watford, Amy, Rankin, Julia, Baralle, Diana and Procter, Annie 2022. Neuropsychiatric risk in children with intellectual disability of genetic origin: IMAGINE - The UK National Cohort Study. [Online]. papers.SSRN.com: Elsevier. Available at: http://dx.doi.org/10.2139/ssrn.4028542
file

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
file

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 23 , 13. 10.1007/s11920-021-01225-z
file

Linden, Stefanie C. ORCID: https://orcid.org/0000-0002-5638-9292, Watson, Cameron J., Smith, Jacqueline, Chawner, Samuel J. R. A., Lancaster, Thomas M. ORCID: https://orcid.org/0000-0003-1322-2449, Evans, Ffion, Williams, Nigel ORCID: https://orcid.org/0000-0003-1177-6931, Skuse, David, Raymond, F. Lucy, Hall, Jeremy ORCID: https://orcid.org/0000-0003-2737-9009, Owen, Michael J. ORCID: https://orcid.org/0000-0003-4798-0862, Linden, David E. J. ORCID: https://orcid.org/0000-0002-5638-9292, Green-Snyder, LeeAnne, Chung, Wendy K., Maillard, Anne M., Jacquemont, Sébastien and van den Bree, Marianne B. M. ORCID: https://orcid.org/0000-0002-4426-3254 2021. The psychiatric phenotypes of 1q21 distal deletion and duplication. Translational Psychiatry 11 , 105. 10.1038/s41398-021-01226-9
file

Chawner, Samuel, Doherty, Joanne L., Anney, Richard ORCID: https://orcid.org/0000-0002-6083-407X, 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 ORCID: https://orcid.org/0000-0003-2737-9009, Owen, Michael J. ORCID: https://orcid.org/0000-0003-4798-0862 and van den Bree, Marianne B.M. ORCID: https://orcid.org/0000-0002-4426-3254 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
filefilefile

Davies, Robert, International 22q11.2, Brain and Behavior Consortium, Fiksinski, Ania M., Breetvelt, Elemi J., Williams, Nigel M. ORCID: https://orcid.org/0000-0003-1177-6931, Hooper, Stephen R., Monfueuga, Thomas, Bassett, Anne S., Owen, Michal J. ORCID: https://orcid.org/0000-0003-4798-0862, Gur, Raquel E., Morrow, Bernice E., McDonald-McGinn, Donna M., Swillen, Ann, Chow, Eva W. C., van den Bree, Marianne ORCID: https://orcid.org/0000-0002-4426-3254, 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 Heine., Vicari, Stefano, Scherer, Stephen W., 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
file

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. ORCID: https://orcid.org/0000-0002-4426-3254 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
file

Drakulic, Danijela, Djurovic, Srdjan, Syed, Yasir Ahmed ORCID: https://orcid.org/0000-0001-9495-307X, 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. ORCID: https://orcid.org/0000-0002-4426-3254, Testa, Giuseppe, Petrakis, Spyros and Harwood, Adrian J. ORCID: https://orcid.org/0000-0003-3124-5169 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
file

Morrison, Sinead, Chawner, Samuel J. R. A., van Amelsvoort, Therese A. M. J., Swillen, Ann, Vingerhoets, Claudia, Vergaelen, Elfi, Linden, David E. J. ORCID: https://orcid.org/0000-0002-5638-9292, Linden, Stefanie ORCID: https://orcid.org/0000-0002-5638-9292, Owen, Michael J. ORCID: https://orcid.org/0000-0003-4798-0862 and van den Bree, Marianne B. M. ORCID: https://orcid.org/0000-0002-4426-3254 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
file

Chawner, Samuel J. R. A., Owen, Michael J. ORCID: https://orcid.org/0000-0003-4798-0862, Holmans, Peter ORCID: https://orcid.org/0000-0003-0870-9412, Raymond, F. Lucy, Skuse, David, Skuse, David, Hall, Jeremy ORCID: https://orcid.org/0000-0003-2737-9009 and van den Bree, Marianne B. M. ORCID: https://orcid.org/0000-0002-4426-3254 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
file

Chawner, Samuel, Owen, Michael J. ORCID: https://orcid.org/0000-0003-4798-0862, Holmans, Peter ORCID: https://orcid.org/0000-0003-0870-9412, Raymond, Lucy, Skuse, David, Hall, Jeremy ORCID: https://orcid.org/0000-0003-2737-9009 and van den Bree, Marianne ORCID: https://orcid.org/0000-0002-4426-3254 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. [Online]. BioRxiv. Available at: https://doi.org/10.1101/535708
file

Niarchou, Maria ORCID: https://orcid.org/0000-0002-8855-7393, 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. ORCID: https://orcid.org/0000-0003-4798-0862, Gur, Raquel A., Wray, Naomi R., van den Bree, Marianne ORCID: https://orcid.org/0000-0002-4426-3254 and Thapar, Anita ORCID: https://orcid.org/0000-0002-3689-737X 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
file

Niarchou, Maria ORCID: https://orcid.org/0000-0002-8855-7393, 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. ORCID: https://orcid.org/0000-0002-5638-9292, Linden, Stefanie C. ORCID: https://orcid.org/0000-0002-5638-9292, Raymond, F. Lucy, Skuse, David, Hall, Jeremy ORCID: https://orcid.org/0000-0003-2737-9009, Owen, Michael J. ORCID: https://orcid.org/0000-0003-4798-0862 and Van Den Bree, Marianne B. M. ORCID: https://orcid.org/0000-0002-4426-3254 2019. Psychiatric disorders in children with 16p11.2 deletion and duplication. Translational Psychiatry 10.1038/s41398-018-0339-8
file

Chawner, Samuel J.R.A., Niarchou, Maria ORCID: https://orcid.org/0000-0002-8855-7393, Doherty, Joanne L., Moss, Hayley, Owen, Michael J. ORCID: https://orcid.org/0000-0003-4798-0862 and Van Den Bree, Marianne ORCID: https://orcid.org/0000-0002-4426-3254 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
file

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 ORCID: https://orcid.org/0000-0002-4426-3254, Owen, Michael ORCID: https://orcid.org/0000-0003-4798-0862, Niarchou, Maria ORCID: https://orcid.org/0000-0002-8855-7393, 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
file

Morrison, Sinead, Chawner, Samuel, van Amelsvoort, Therese, Swillen, Ann, Vergaelen, Elfi, Owen, Michael ORCID: https://orcid.org/0000-0003-4798-0862 and Van Den Bree, Marianne ORCID: https://orcid.org/0000-0002-4426-3254 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
file

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
file

Chawner, Samuel, Doherty, Joanne L., Moss, Hayley, Niarchou, Maria ORCID: https://orcid.org/0000-0002-8855-7393, Walters, James ORCID: https://orcid.org/0000-0002-6980-4053, Owen, Michael J. ORCID: https://orcid.org/0000-0003-4798-0862 and Van Den Bree, Marianne Bernadette ORCID: https://orcid.org/0000-0002-4426-3254 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
file

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 ORCID: https://orcid.org/0000-0002-8911-3479, Misiewicz, Zuzanna, Pagliaroli, Luca, Pardinas, Antonio ORCID: https://orcid.org/0000-0001-6845-7590, 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 ORCID: https://orcid.org/0000-0003-4798-0862, 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 ORCID: https://orcid.org/0000-0002-4426-3254, 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 ORCID: https://orcid.org/0000-0002-4426-3254, 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
file

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.
filefile

This list was generated on Wed Jul 16 08:10:08 2025 BST.


Maintained by Cardiff University IT