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

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

ASD and ADHD have a similar burden of rare protein-truncating variants

F. Kyle Satterstrom, Raymond Kenney Walters, Tarjinder Singh, Emilie M. Wigdor, Francesco Lescai, Ditte Demontis, Jack A. Kosmicki, Jakob Grove, Christine R. Stevens, Jonas Bybjerg‐Grauholm, Marie Bækvad‐Hansen, Duncan S. Palmer, Julian Maller, Merete Nordentoft, Ole N Mors, , Mark J. Daly

The paper investigates the genetic burden of rare protein-truncating variants in ASD and ADHD, finding similar patterns of enrichment.

bioRxiv · Mar 6, 2018 · PreprintGenetics

Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population

Elise B Robinson, Beate St Pourcain, Verneri Anttila, Jack Kosmicki, Brendan Bulik-Sullivan, Jakob Grove, Julian Maller, Kaitlin E Samocha, Stephan Sanders, Stephan Ripke, Joanna Martin, Mads V Hollegaard, Thomas Werge, David M Hougaard, Benjamin M Neale, , Mark J Daly

The paper identifies genetic links between autism spectrum disorders and typical variation in social behavior and adaptive functioning in the general population.

bioRxiv · Sep 29, 2015Genetics