Comparison of autism domains across thirty rare variant genotypes

Authors: Housby, Harriet, Lee, Irene, Skuse, David, Wolstencroft, Jeanne, Mandy, William, Denaxas, Spiros, Baker, Kate, Raymond, Lucy, van den Bree, Marianne, Chawner, Samuel, Hall, Jeremy, Holmans, Peter, Hope-Bell, Josh, Le Roux, Danielle, Morrin, Sally, Owen, Michael, Sivakumar, Shreeya, Ali, Nabila M.H. ^a, Chawner, Samuel J.R.A. ^a, Kushan-Wells, Leila ^b, Bearden, Carrie E. ^b, Mulle, Jennifer Gladys ^{c, d}, Pollak, Rebecca M. ^{c, d}, Gur, Raquel E. ^e, Chung, Wendy K. ^f, Owen, Michael J. ^a, van den Bree, Marianne B.M. ^{a, ∗}

Source: In eBioMedicine February 2025 112

Beyond the Global Brain Differences: Intraindividual Variability Differences in 1q21.1 Distal and 15q11.2 BP1-BP2 Deletion Carriers

Authors: Boen, Rune, Kaufmann, Tobias, van der Meer, Dennis, Frei, Oleksandr, Agartz, Ingrid, Ames, David, Andersson, Micael, Armstrong, Nicola J., Artiges, Eric, Atkins, Joshua R., Bauer, Jochen, Benedetti, Francesco, Boomsma, Dorret I., Brodaty, Henry, Brosch, Katharina, Buckner, Randy L., Cairns, Murray J., Calhoun, Vince, Caspers, Svenja, Cichon, Sven, Corvin, Aiden P., Crespo-Facorro, Benedicto, Dannlowski, Udo, David, Friederike S., de Geus, Eco J.C., de Zubicaray, Greig I., Desrivières, Sylvane, Doherty, Joanne L., Donohoe, Gary, Ehrlich, Stefan, Eising, Else, Espeseth, Thomas, Fisher, Simon E., Forstner, Andreas J., Fortaner-Uyà, Lidia, Frouin, Vincent, Fukunaga, Masaki, Ge, Tian, Glahn, David C., Goltermann, Janik, Grabe, Hans J., Green, Melissa J., Groenewold, Nynke A., Grotegerd, Dominik, Grøntvedt, Gøril Rolfseng, Hahn, Tim, Hashimoto, Ryota, Hehir-Kwa, Jayne Y., Henskens, Frans A., Holmes, Avram J., Håberg, Asta K., Haavik, Jan, Jacquemont, Sebastien, Jansen, Andreas, Jockwitz, Christiane, Jönsson, Erik G., Kikuchi, Masataka, Kircher, Tilo, Kumar, Kuldeep, Le Hellard, Stephanie, Leu, Costin, Linden, David E., Liu, Jingyu, Loughnan, Robert, Mather, Karen A., McMahon, Katie L., McRae, Allan F., Medland, Sarah E., Meinert, Susanne, Moreau, Clara A., Morris, Derek W., Mowry, Bryan J., Mühleisen, Thomas W., Nenadić, Igor, Nöthen, Markus M., Nyberg, Lars, Ophoff, Roel A., Owen, Michael J., Pantelis, Christos, Paolini, Marco, Paus, Tomas, Pausova, Zdenka, Persson, Karin, Quidé, Yann, Marques, Tiago Reis, Sachdev, Perminder S., Sando, Sigrid B., Schall, Ulrich, Scott, Rodney J., Selbæk, Geir, Shumskaya, Elena, Silva, Ana I., Sisodiya, Sanjay M., Stein, Frederike, Stein, Dan J., Straube, Benjamin, Streit, Fabian, Strike, Lachlan T., Teumer, Alexander, Teutenberg, Lea, Thalamuthu, Anbupalam, Tooney, Paul A., Tordesillas-Gutierrez, Diana, Trollor, Julian N., van ’t Ent, Dennis, van den Bree, Marianne B.M., van Haren, Neeltje E.M., Vázquez-Bourgon, Javier, Völzke, Henry, Wen, Wei, Wittfeld, Katharina, Ching, Christopher R.K., Westlye, Lars T., Thompson, Paul M., Bearden, Carrie E., Selmer, Kaja K., Alnæs, Dag, Andreassen, Ole A., Sønderby, Ida E.

Source: In Biological Psychiatry 15 January 2024 95(2):147-160

Neuropsychiatric risk in children with intellectual disability of genetic origin: IMAGINE, a UK national cohort study

Authors: 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, Raymond, F Lucy, Chawner, Samuel J R A, van den Bree, Marianne B M

Source: In The Lancet Psychiatry September 2022 9(9):715-724

Genetic Heterogeneity Shapes Brain Connectivity in Psychiatry

Authors: Moreau, Clara A., Harvey, Annabelle, Kumar, Kuldeep, Huguet, Guillaume, Urchs, Sebastian G.W., Douard, Elise A., Schultz, Laura M., Sharmarke, Hanad, Jizi, Khadije, Martin, Charles-Olivier, Younis, Nadine, Tamer, Petra, Rolland, Thomas, Martineau, Jean-Louis, Orban, Pierre, Silva, Ana Isabel, Hall, Jeremy, van den Bree, Marianne B.M., Owen, Michael J., Linden, David E.J., Labbe, Aurelie, Lippé, Sarah, Bearden, Carrie E., Almasy, Laura, Glahn, David C., Thompson, Paul M., Bourgeron, Thomas, Bellec, Pierre, Jacquemont, Sebastien

Source: In Biological Psychiatry 1 January 2023 93(1):45-58

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Pan-european landscape of research into neurodevelopmental copy number variants: A survey by the MINDDS consortium

Authors: Chawner, Samuel J.R.A., Mihaljevic, Marina, Morrison, Sinead, Eser, Hale Yapici, Maillard, Anne M., Nowakowska, Beata, van den Bree, Marianne B.M., Swillen, Ann

Source: In European Journal of Medical Genetics December 2020 63(12)

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Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects

Authors: Antonarakis, Stylianos E., Biondi, Massimo, Boot, Erik, Breetvelt, Elemi, Busa, Tiffany, Butcher, Nancy, Buzzanca, Antonino, Carmel, Miri, Cleynen, Isabelle, Cutler, David, Dallapiccola, Bruno, de la Fuente Sanches, María Angeles, Epstein, Michael P., Evers, Rens, Fernandez, Luis, Fritsch, Rosemarie, Algas, Fernando García, Guo, Tingwei, Gur, Raquel, Hestand, Matthew S., Heung, Tracy, Hooper, Stephen, Jin, Andrea, Kushan-Wells, Leila, Laorden-Nieto, Alejandra Teresa, Lattanzi, Guido, Marshall, Christian, McCabe, Kathryn, Michaelovsky, Elena, Ornstein, Claudia, Silversides, Candice, Tran, Oanh, van Duin, Esther D.A., Vergaelen, Elfi, Warren, Steve T., Weinberger, Ronnie, Weizman, Abraham, Zhang, Zhengdong, Zwick, Michael, Zhao, Yingjie, Diacou, Alexander, Johnston, H. Richard, Musfee, Fadi I., McDonald-McGinn, Donna M., McGinn, Daniel, Crowley, T. Blaine, Repetto, Gabriela M., Swillen, Ann, Breckpot, Jeroen, Vermeesch, Joris R., Kates, Wendy R., Digilio, M. Cristina, Unolt, Marta, Marino, Bruno, Pontillo, Maria, Armando, Marco, Di Fabio, Fabio, Vicari, Stefano, van den Bree, Marianne, Moss, Hayley, Owen, Michael J., Murphy, Kieran C., Murphy, Clodagh M., Murphy, Declan, Schoch, Kelly, Shashi, Vandana, Tassone, Flora, Simon, Tony J., Shprintzen, Robert J., Campbell, Linda, Philip, Nicole, Heine-Suñer, Damian, García-Miñaúr, Sixto, Fernández, Luis, Bearden, Carrie E., Vingerhoets, Claudia, van Amelsvoort, Therese, Eliez, Stephan, Schneider, Maude, Vorstman, Jacob A.S., Gothelf, Doron, Zackai, Elaine, Agopian, A.J., Gur, Raquel E., Bassett, Anne S., Emanuel, Beverly S., Goldmuntz, Elizabeth, Mitchell, Laura E., Wang, Tao, Morrow, Bernice E.

Source: In The American Journal of Human Genetics 2 January 2020 106(1):26-40

Genotype–phenotype associations in children with copy number variants associated with high neuropsychiatric risk in the UK (IMAGINE-ID): a case-control cohort study

Authors: Chawner, Samuel J R A, Owen, Michael J, Holmans, Peter, Raymond, F Lucy, Skuse, David, Hall, Jeremy, van den Bree, Marianne B M

Source: In The Lancet Psychiatry June 2019 6(6):493-505

Attention deficit hyperactivity disorder symptoms as antecedents of later psychotic outcomes in 22q11.2 deletion syndrome

Authors: Niarchou, Maria, Chawner, Samuel J.R.A., Fiksinski, Ania, Vorstman, Jacob A.S., Maeder, Johanna, Schneider, Maude, Eliez, Stephan, Armando, Marco, Pontillo, Maria, Vicari, Stefano, McDonald-McGinn, Donna M., Emanuel, Beverly S., Zackai, Elaine H., Bearden, Carrie E., Shashi, Vandana, Hooper, Stephen R., Owen, Michael J., Gur, Raquel E., Wray, Naomi R., van den Bree, Marianne B.M., Thapar, Anita

Source: In Schizophrenia Research February 2019 204:320-325

The emergence of psychotic experiences in the early adolescence of 22q11.2 Deletion Syndrome

Authors: Chawner, Samuel J.R.A., Niarchou, Maria, Doherty, Joanne L., Moss, Hayley, Owen, Michael J., van den Bree, Marianne B.M.

Source: In Journal of Psychiatric Research February 2019 109:10-17

Irritability in young people with copy number variants associated with neurodevelopmental disorders (ND-CNVs).

Authors: Hall, Jessica H., Chawner, Samuel J. R. A., IMAGINE-ID consortium, Housby, Harriet, Lee, Irene, Skuse, David, Wolstencroft, Jeanne, Mandy, William, Dexanas, Spiros, Baker, Kate, Raymond, Lucy, van den Bree, Marianne, Chawner, Samuel, Hall, Jeremy, Holmans, Peter, Hope-Bell, Josh, Le Roux, Danielle, Morrin, Sally, Owen, Michael, Sivakumar, Shreeya

Source: Translational Psychiatry; 6/18/2024, Vol. 14 Issue 1, p1-7, 7p

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Using rare genetic mutations to revisit structural brain asymmetry.

Authors: Kopal, Jakub, Kumar, Kuldeep, Shafighi, Kimia, Saltoun, Karin, Modenato, Claudia, Moreau, Clara A., Huguet, Guillaume, Jean-Louis, Martineau, Martin, Charles-Olivier, Saci, Zohra, Younis, Nadine, Douard, Elise, Jizi, Khadije, Beauchamp-Chatel, Alexis, Kushan, Leila, Silva, Ana I., van den Bree, Marianne B. M., Linden, David E. J., Owen, Michael J., Hall, Jeremy

Source: Nature Communications; 3/26/2024, Vol. 15 Issue 1, p1-19, 19p

Subject Terms: BRAIN function localization, CEREBRAL dominance, GENETIC mutation, GENOME-wide association studies, MULTISENSOR data fusion, WORD recognition

Experiences and concerns of parents of children with a 16p11.2 deletion or duplication diagnosis: a reflexive thematic analysis.

Authors: Butter, Charlotte E., Goldie, Caitlin L., Hall, Jessica H., Leadbitter, Kathy, Burkitt, Emma M.M., van den Bree, Marianne B.M., Green, Jonathan M.

Source: BMC Psychology; 3/12/2024, Vol. 12 Issue 1, p1-11, 11p

Subject Terms: PARENT attitudes, THEMATIC analysis, DNA copy number variations, PARENTS, EVIDENCE gaps

Geographic Terms: UNITED Kingdom

The Mediating Role of Deviant Peers on the Link Between Depressed Mood and Harmful Drinking

Authors: Pesola, Francesca, Shelton, Katherine H., Heron, Jon, Munafò, Marcus, Maughan, Barbara, Hickman, Matthew, van den Bree, Marianne B.M.

Source: In Journal of Adolescent Health February 2015 56(2):153-159

Further evidence for high rates of schizophrenia in 22q11.2 deletion syndrome

Authors: Monks, Stephen, Niarchou, Maria, Davies, Aimée R., Walters, James T.R., Williams, Nigel, Owen, Michael J., van den Bree, Marianne B.M., Murphy, Kieran C.

Source: In Schizophrenia Research March 2014 153(1-3):231-236

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The Moderating Effects of Pubertal Timing on the Longitudinal Associations between Parent-Child Relationship Quality and Adolescent Substance Use

Authors: Shelton, Katherine H., Van Den Bree, Marianne B. M.

Source: Journal of Research on Adolescence. Dec 2010 20(4):1044-1064.

Peer Reviewed: Y

Page Count: 21

Descriptors: Maturity (Individuals), Females, Drinking, Parent Child Relationship, Puberty, Males, Substance Abuse, Adolescents, Longitudinal Studies, Influences, Adolescent Development, Smoking, Gender Differences