The paper introduces a multiscale resource integrating genetics, brain imaging, and clinical data from autistic individuals and their relatives to explore genetic and neurobiological patterns in autism.

medRxiv · Nov 24, 2025 · PreprintGenetic & Genomic Medicine

European Autism GEnomics Registry (EAGER): Protocol for a multicentre cohort study and registry

Madeleine Bloomfield, Alexandra Lautarescu, Síofra Heraty, Sarah Douglas, Pierre Violland, Jan Roderik Derk Plas, Anjuli Ghosh, Katrien Van den Bosch, Eliza Eaton, Michael Absoud, Roberta Battini, Ana Blázquez Hinojosa, Nadia Bolshakova, Sven Bölte, Paolo Bonanni, , Tony Charman

EAGER establishes a registry of autistic individuals and those with rare genetic conditions for genomic and phenotypic research, aiming to improve clinical trials and health outcomes through data sharing.

BMJ Open · Jun 1, 2024Peer-reviewedGenetic & Genomic Medicine

Sub-diagnostic effects of genetic variants associated with autism

Thomas Rolland, Freddy Cliquet, Richard Anney, Clara A. Moreau, Nicolas Traut, Alexandre Mathieu, Guillaume Huguet, Jinjie Duan, Varun Warrier, Swan Portalier, Louise Dry, Claire S. Leblond, Elise A. Douard, Frédérique Amsellem, Simon Malesys, , Thomas Bourgeron

The paper maps the odds ratio for autism associated with rare LoF variants in autism-associated genes and shows sub-diagnostic effects in undiagnosed individuals.

European Neuropsychopharmacology · Sep 23, 2022Peer-reviewedGenetic & Genomic Medicine

Genetic correlates of phenotypic heterogeneity in autism

Varun Warrier, Xinhe Zhang, Patrick Reed, Alexandra Havdahl, Tyler M. Moore, Freddy Cliquet, Claire S. Leblond, Thomas Rolland, Anders Rosengren, EU-AIMS LEAP, Antonia San José Cáceres, Hannah Hayward, Daisy Crawley, Jessica Faulkner, Jessica Sabet, , Simon Baron‐Cohen

This study identifies genetic correlates of phenotypic heterogeneity in autism by analyzing common and de novo variants across core features and co-occurring disabilities.

Nature Genetics · Jun 2, 2022Peer-reviewedGenetic & Genomic Medicine

Social and non-social autism symptom and trait domains are genetically dissociable

Varun Warrier, Roberto Toro, Hyejung Won, Claire S. Leblond, Freddy Cliquet, Richard Delorme, Ward De Witte, Janita Bralten, Bhismadev Chakrabarti, Anders Dupont Børglum, Jakob Grove, Geert Poelmans, David A. Hinds, Thomas Bourgeron, Simon Baron‐Cohen

This study investigates whether social and non-social autism symptom domains are genetically distinct by analyzing genetic correlations between systemizing and autism traits.

Communications Biology · Sep 3, 2019Peer-reviewedGenetics

Both rare and common genetic variants contribute to autism in the Faroe Islands

Claire S. Leblond, Freddy Cliquet, Coralie Carton-Buonafine, Guillaume Huguet, Alexandre Mathieu, Thomas Kergrohen, Julien Buratti, Nathalie Lemière, Laurence Cuisset, Thierry Bienvenu, Anne Boland, Jean‐François Deleuze, Tórmóður Stórá, Rannvá Biskupstø, Jónrit Halling, , Thomas Bourgeron

This study identifies both rare and common genetic variants contributing to autism in the Faroe Islands by analyzing SNP array and whole exome sequencing data from 357 individuals.

npj Genomic Medicine · Jan 21, 2019Peer-reviewedGenetics