Publications

Our key related research articles

This section features research publications authored by our team.

• CNVPathwayAtlas – A.V. et al., Aiming for Nature- Scientific Data - Data Descriptor, 2025/2026.

• Copy number variant risk loci for schizophrenia converge on the BDNF pathway – Ehrhart, F., Silva, A., Amelsvoort, T. van, von Scheibler, E., Evelo, C., & Linden, D. E. J., The World Journal of Biological Psychiatry, 2024.

• WikiPathways 2024: next generation pathway database – Agrawal, A., Balcı, H., Hanspers, K., Coort, S.L., Martens, M., Slenter, D.N., Ehrhart, F., Digles, D., Waagmeester, A., Wassink, I. and Abbassi-Daloii, T., Nucleic acids research, 2024.

External research articles

A selection of key studies that inform and support our research.

• Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects – Marshall, C.R., Howrigan, D.P., Merico, D., Thiruvahindrapuram, B., Wu, W., Greer, D.S., Antaki, D., Shetty, A., Holmans, P.A., Pinto, D. and Gujral, M., Nature genetics, 2017.

• Support for the involvement of large copy number variants in the pathogenesis of schizophrenia – Kirov, G., Grozeva, D., Norton, N., Ivanov, D., Mantripragada, K.K., Holmans, P., International Schizophrenia Consortium, Wellcome Trust Case Control Consortium, Craddock, N., Owen, M.J. and O’Donovan, M.C., Human molecular genetics, 2009.

• Rare chromosomal deletions and duplications increase risk of schizophrenia – International Schizophrenia Consortium, Nature, 2008.

• Large recurrent microdeletions associated with schizophrenia – Stefansson, H., Rujescu, D., Cichon, S., Pietiläinen, O.P., Ingason, A., Steinberg, S., Fossdal, R., Sigurdsson, E., Sigmundsson, T., Buizer-Voskamp, J.E. and Hansen, T., Nature, 2008.

Additional studies that inform and support our research.

• Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia – Mulle, J.G., Pulver, A.E., McGrath, J.A., Wolyniec, P.S., Dodd, A.F., Cutler, D.J., Sebat, J., Malhotra, D., Nestadt, G., Conrad, D.F. and Hurles, M., Biological psychiatry, 2014.

• Evidence that duplications of 22q11.2 protect against schizophrenia – Rees, E., Kirov, G., Sanders, A., Walters, J.T.R., Chambert, K.D., Shi, J., Szatkiewicz, J., O’dushlaine, C., Richards, A.L., Green, E.K. and Jones, I., Molecular Psychiatry, 2014.

• CNV analysis in a large schizophrenia sample implicates deletions at 16p12.1 and SLC1A1 and duplications at 1p36.33 and CGNL1 – Rees, E., Walters, J.T., Chambert, K.D., O’Dushlaine, C., Szatkiewicz, J., Richards, A.L., Georgieva, L., Mahoney-Davies, G., Legge, S.E., Moran, J.L. and Genovese, G., Human molecular genetics, 2014.

• Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder – Bergen, S.E., O’dushlaine, C.T., Ripke, S., Lee, P.H., Ruderfer, D.M., Akterin, S., Moran, J.L., Chambert, K.D., Handsaker, R.E., Backlund, L. and Ösby, U., Molecular Psychiatry, 2012.

• Duplications in RB1CC1 are associated with schizophrenia; identification in large European sample sets – Degenhardt, F., Priebe, L., Meier, S., Lennertz, L., Streit, F., Witt, S.H., Hofmann, A., Becker, T., Mössner, R., Maier, W. and Nenadic, I., Translational psychiatry, 2013.

• Implication of a rare deletion at distal 16p11.2 in schizophrenia – Guha, S., Rees, E., Darvasi, A., Ivanov, D., Ikeda, M., Bergen, S.E., Magnusson, P.K., Cormican, P., Morris, D., Gill, M. and Cichon, S., JAMA psychiatry, 2013.

• Maternally Derived Microduplications at 15q11-q13: Implication of Imprinted Genes in Psychotic Illness – Ingason, A., Kirov, G., Giegling, I., Hansen, T., Isles, A.R., Jakobsen, K.D., Kristinsson, K.T., le Roux, L., Gustafsson, O., Craddock, N. and Möller, H.J., American Journal of Psychiatry, 2011.

• Copy number variants in schizophrenia: confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications – Levinson, D.F., Duan, J., Oh, S., Wang, K., Sanders, A.R., Shi, J., Zhang, N., Mowry, B.J., Olincy, A., Amin, F. and Cloninger, C.R., American Journal of Psychiatry, 2011.

• Duplications of the Neuropeptide Receptor VIPR2 Confer Significant Risk for Schizophrenia – Vacic, V., McCarthy, S., Malhotra, D., Murray, F., Chou, H.H., Peoples, A., Makarov, V., Yoon, S., Bhandari, A., Corominas, R. and Iakoucheva, L.M., Nature, 2011.

• Microdeletions of 3q29 confer high risk for schizophrenia – Mulle, J.G. et al., The American Journal of Human Genetics, 2010.

• Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia – Moreno-De-Luca, D., Mulle, J.G., Kaminsky, E.B., Sanders, S.J., Myers, S.M., Adam, M.P., Pakula, A.T., Eisenhauer, N.J., Uhas, K., Weik, L. and Guy, L., The American Journal of Human Genetics, 2010.

• Microduplications of 16p11.2 are associated with schizophrenia – McCarthy, S.E. et al., Nature genetics, 2009.

• Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia – Kirov, G., Gumus, D., Chen, W., Norton, N., Georgieva, L., Sari, M., O’Donovan, M.C., Erdogan, F., Owen, M.J., Ropers, H.H. and Ullmann, R., Human molecular genetics, 2008.

• Disruption of the neurexin 1 gene is associated with schizophrenia – Rujescu, D. et al., Human molecular genetic, 2008.

• Late-onset psychosis in the velo-cardio-facial syndrome – Shprintzen, R.J., Goldberg, R., Golding-Kushner, K.J. & Marion, R.W., American journal of medical genetics, 1992.

Note: Where possible, we have provided links to full open-access articles. Some articles were accessed through Maastricht University, so full access via these links cannot be guaranteed.