LEAP-InovAND a multiscale resource to explore genetics, brain imaging and clinical data in autism

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Fleury, M., Mougin, Z., Leblond, C. S., Cliquet, F., Mathieu, A., Oakley, B. F., Maruani, A., Agathe, J. M. d. S., Korkmaz, S., Holt, R., Vitrac, A., Amsellem, F., Batut, A., Botton-Amiot, G., Rolland, T., Barthome, E., Bonicel, R., Beggiato, A., Lemière, N.,..., & Bourgeron, T. (2025). LEAP-InovAND a multiscale resource to explore genetics, brain imaging and clinical data in autism [Preprint]. openRxiv. https://doi.org/10.1101/2025.11.24.25340858

Publication date: 27 Nov 2025 Added to AutiHub: 5 Jul 2026 Type: Preprint Article language: English
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Authors

Publication authors
67
Publication authors identified as autistic
2 / 67 (3.0%)
  1. Mathis Fleury
  2. Zakaria Mougin
  3. Claire S. Leblond
  4. Freddy Cliquet
  5. Alexandre Mathieu
  6. Bethany F. Oakley
  7. Anna Maruani
  8. Jean-Madeleine de Sainte Agathe
  9. Selin Korkmaz
  10. Rosemary Holt
  11. Aline Vitrac
  12. Frédérique Amsellem
  13. Aria Batut
  14. Gaelle Botton-Amiot
  15. Thomas Rolland
  16. Eli Barthome
  17. Robin Bonicel
  18. Anita Beggiato
  19. Nathalie Lemière
  20. Anne‐Claude Tabet
  21. Jonathan Lévy
  22. Chloé Lehoucq
  23. Anaël Ayrolles
  1. Clara Moreau
  2. Laura Colomar Molla
  3. Roberto Toro
  4. Nicolas Traut
  5. Aline Lefebvre
  6. Dorothea L. Floris
  7. Guillaume Dumas
  8. Guillaume Huguet
  9. Stéf Bonnot-Briey *
  10. Fabio Campana
  11. Julien Van‐Gils
  12. Victor Wang
  13. Julien Buratti
  14. Ludmila Jornéa
  15. Sophia Loiodice
  16. Sylvie Forlani
  17. Stéphane Fournier
  18. Delphine Bacq-Daian
  19. Robert Olaso
  20. Vincent Meyer
  21. Bertrand Fin
  22. AIMS-2-Trials A-Reps group
  23. Anjuli Ghosh
  1. Mary Doherty *
  2. Scarlett Li-Williams
  3. InovAND group
  4. EU-AIMS/AIMS-2-Trials LEAP group
  5. Jean-François Deleuze
  6. Antonio M. Persico
  7. Marion Leboyer
  8. Christopher Gillberg
  9. Sven Bölte
  10. Christian F. Beckmann
  11. Cristine Ecker
  12. Emily J.H. Jones
  13. Varun Warrier
  14. Simon Baron-Cohen
  15. Tony Charman
  16. Eva Loth
  17. Jan K. Buitelaar
  18. Julian Tillmann
  19. Richard Delorme
  20. Declan Murphy
  21. Thomas Bourgeron

Abstract

Most current autism research focuses on categorical comparisons (e.g., autistic vs. neurotypical people) and usually examines only one biological domain (e.g., cognition, genetics, or brain imaging). Here, we present a comprehensive resource integrating quantitative phenotypic data, whole genome sequencing, brain magnetic resonance imaging, and electroencephalography. A total of 5,549 people were recruited in Europe through LEAP and InovAND, including 2,061 autistic people, 62 people with intellectual developmental disability who do not meet diagnostic criteria for autism, 2,551 undiagnosed relatives and 875 neurotypical people. Among these people, 2,531 have both clinical and genetic data, and 875 people additionally have neuroimaging data (EEG and/or MRI). We stratified people based on autistic traits and cognitive skills, revealing clusters with distinct genetic and brain signatures. Differences were observed in both rare and common variants, particularly in synaptic and chromatin remodeling genes pathways, and suggesting distinct trajectories of cortical maturation at early stages of development. This resource is available to support research into the complex links between genes, brain structures/functions, and autism.

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Cited references
46
Total cited references integrated for this publication.
Cited references with an identified autistic author
1 / 46 (2.2%)
Cited author occurrences identified as autistic
1 / 1166 (0.1%)
Among occurrences linked to AutiHub author records: 1 / 127 (0.8%). Distinct cited authors identified as autistic: 1 / 1048 (0.1%).
Cited author occurrences linked to AutiHub author records
127 / 1166 (10.9%)
Distinct linked cited authors: 76 / 1048 (7.3%)
Linked cited-author occurrences not identified as autistic
126 / 127 (99.2%)
Among linked cited-author occurrences only. Across all cited-author occurrences: 126 / 1166 (10.8%). Distinct linked cited authors not identified as autistic: 75 / 76 (98.7%).
2 cited bibliography entries could not be fully enriched from DOI metadata.
Crossref: not found (1) · DataCite: not found (1)
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