This study identifies somatic copy number variants (sCNVs) in schizophrenia cases, revealing their contribution to risk and specific NRXN1 disruptions.

Cell Genomics · Jul 6, 2023Peer-reviewedGenetic & Genomic Medicine

Genome-wide association study of school grades identifies a genetic overlap between language ability, psychopathology and creativity

Veera Manikandan Rajagopal, Andrea Ganna, Jonathan R. I. Coleman, Andrea G. Allegrini, Georgios Voloudakis, Jakob Grove, Thomas D. Als, Henriette Thisted Horsdal, Liselotte Vogdrup Petersen, Vivek Appadurai, Andrew Joseph Schork, Alfonso Buil, Cynthia Marie Bulik, Jonas Bybjerg‐Grauholm, Marie Bækvad‐Hansen, , Ditte Demontis

This study identifies genetic overlaps between psychiatric disorders, language ability, and creativity through a GWAS of school grades.

Scientific Reports · Jan 9, 2023Peer-reviewedGenomics

Common risk variants identified in autism spectrum disorder

Jakob Grove, BUPGEN, Stephan Ripke, Thomas D. Als, Manuel Mattheisen, Raymond Kenney Walters, Hyejung Won, Jonatan Pallesen, Esben Agerbo, Ole A. Andreassen, Richard Anney, Swapnil Awashti, Rich Belliveau, Francesco Bettella, Joseph D. Buxbaum, , Anders Dupont Børglum

This study identifies five genome-wide significant loci and seven shared with other traits in a large ASD GWAS, highlighting polygenic heterogeneity and the value of large-scale GWAS in ASD.

Nature Genetics · Feb 25, 2019Peer-reviewedGenetics

Disentangling genetically confounded polygenic associations between Attention-Deficit/Hyperactivity Disorder, literacy and language

Ellen Verhoef, Ditte Demontis, Stephen Burgess, Chin Yang Shapland, Philip S. Dale, Aysu Okbay, Benjamin M. Neale, Stephen V. Faraone, Esben Agerbo, Thomas D. Als, Marie Bækved-Hansen, Rich Belliveau, Anders Dupont Børglum, Jonas Bybjerg‐Grauholm, Felecia E. Cerrato, , Beaté St Pourcain

The paper investigates polygenic associations between ADHD and literacy/language abilities, finding that genetic confounding with educational attainment masks ADHD-specific reading impairments.

Translational Psychiatry · Jan 24, 2019Peer-reviewedGenetics

Contribution of rare copy number variants to bipolar disorder risk is limited to schizoaffective cases

Alexander W. Charney, Eli A. Stahl, Elaine Green, Chia‐Yen Chen, Jennifer L. Moran, Kimberly Chambert, Richard A. Belliveau, Liz Forty, Katherine Gordon‐Smith, Phil H. Lee, Evelyn J. Bromet, P.F. Buckley, Michael Escamilla, Ayman H. Fanous, Laura J. Fochtmann, , Pamela B. Sklar

The study finds that rare copy number variants (CNVs) contribute to bipolar disorder risk primarily in schizoaffective disorder bipolar type cases, with differences in CNV burden and schizophrenia polygenic risk scores between subtypes.

Biological Psychiatry · Dec 19, 2018Peer-reviewedGenetics

Schizophrenia risk conferred by protein-coding de novo mutations

Daniel P. Howrigan, Samuel A. Rose, Kaitlin E. Samocha, Menachem Fromer, Felecia E. Cerrato, Wei J. Chen, Claire L. Churchhouse, Kimberly Chambert, Sharon D. Chandler, Mark J. Daly, Ashley Dumont, Giulio Genovese, Hai‐Gwo Hwu, Nan M. Laird, Jack A. Kosmicki, , Benjamin M. Neale

This study examines the contribution of protein-coding de novo mutations to schizophrenia risk using whole-exome sequencing data from parent-offspring trios, finding a modest but polygenic effect.

bioRxiv · Dec 13, 2018 · PreprintGenetics

Discovery Of The First Genome-Wide Significant Risk Loci For ADHD

Ditte Demontis, Raymond Kenney Walters, Joanna Martin, Manuel Mattheisen, Thomas D. Als, Esben Agerbo, Gísli Baldursson, Rich Belliveau, Jonas Bybjerg‐Grauholm, Marie Bækvad‐Hansen, Felecia E. Cerrato, Kimberly Chambert, Claire Churchhouse, Ashley Dumont, Nicholas Eriksson, , Benjamin M. Neale

Genome-wide association meta-analysis of 20,183 ADHD cases and 35,191 controls finds 12 significant loci; signal concentrates in conserved regions, constrained genes, and CNS regulatory elements.

Nature Genetics · Nov 23, 2018Peer-reviewedGenetics✦ In-depth digest