Autism genetics: perspectives, discourse, and community engagement

This publication is included in the Autistic Autism Scholarship Project. five authors of this publication are identified as autistic in the project.

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Life, B., Thomas, T., Asher, R., Bruwer, Z., Buckle, K. L., Chepkirui, D., Donald, K. A., Dwyer, P., Halladay, A., Harker, S. A., Ivankovic, F., Kamuya, D., Kuo, S. S., Natri, H., Phan, J. M., Robinson, E., & Merwe, C. v. d. (2025). Autism genetics: perspectives, discourse, and community engagement. Trends in Genetics, 42(4), 300-304. https://doi.org/10.1016/j.tig.2025.11.002

Journal or book title
Trends in Genetics
Publisher
Elsevier BV
Volume
42
Issue
4
Pages
300-304
Publication date: 5 Dec 2025 Added to AutiHub: 5 Jul 2026 Type: Article Article language: English
Publisher source (DOI) OpenAlex source

This publication is integrated into AutiHub through:

Authors

Publication authors
17
Publication authors identified as autistic
5 / 17 (29.4%)
  1. Benjamin Life
  2. Taylor Thomas
  3. Rachel Asher
  4. Zandrè Bruwer
  5. Karen Leneh Buckle *
  6. Dorothy Chepkirui
  1. Kirsten A. Donald
  2. Patrick Dwyer *
  3. Alycia Halladay
  4. Samantha A. Harker *
  5. Franjo Ivankovic
  6. Dorcas Kamuya
  1. Susan S. Kuo
  2. Heini Natri *
  3. Jenny Mai Phan *
  4. Elise Robinson
  5. Celia van der Merwe

Abstract

Autism genetics research has the capacity to improve the quality of life of autistic community members, but research priorities vary widely across stakeholders. We summarize key points from our discussion series on autism genetics, highlighting diverse perspectives. Working together, we aim to encourage healthy engagement in autism genetics research.

Bibliography cited by this reference

Cited references are imported from external metadata sources when they are available. The list may be partial.

Cited bibliography overview

These indicators describe the bibliography cited by this publication. An author name is counted each time it appears in one cited reference, so the same person can be counted more than once. Names not yet linked to an author already present in AutiHub are treated as unknown, not as non-autistic. Last computed: 2 Oct 2026 07:50.

Cited references
15
With a DOI
15
Without a DOI, from raw bibliography text
0
2 / 15 (13.3%) cited references include at least one author identified as autistic.
References with data to complete
0 / 15 (0.0%)
References with detected author names
15 / 15 (100.0%)
Without detected author names
0
Without a structured title
0
Without a stable identifier
0
References with raw author names still to review
0
References with external metadata lookup issues
1
These indicators apply to cited references displayed on this page, after technical duplicates have been merged. A reference without a DOI can still support author statistics when a title and author names are available.
Author names detected in the cited bibliography
328
From DOI or external metadata
328
From validated raw bibliography text
0
Raw names already validated
0
Raw names still to review
0
54 / 328 (16.5%) names are linked to an author already present in AutiHub. 274 / 328 (83.5%) names are not yet linked.
Names linked to a person identified as autistic
2 / 328 (0.6%)
Calculated across all author names detected in the cited bibliography. Among names linked to an author already present in AutiHub: 2 / 54 (3.7%). Distinct people identified as autistic: 2 / 292 (0.7%).
  1. Trent Gaugler , Lambertus Klei , Stephan J Sanders , Corneliu A Bodea , Arthur P Goldberg , Ann B Lee et al. (2014). Most genetic risk for autism resides with common variation . Nature Genetics, 46(8), 881-885. Springer Science and Business Media LLC.
    Type: Article DOI: 10.1038/ng.3039 OpenAlex: https://openalex.org/W2033021653
    Crossref OpenAlex
  3. iPSYCH-SSI-Broad Autism Group , Elise Robinson , Beaté St Pourcain , Verneri Anttila , Jack A Kosmicki , Brendan Bulik-Sullivan et al. (2016). Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population . Nature Genetics, 48(5), 552-555. Springer Science and Business Media LLC.
    Type: Article DOI: 10.1038/ng.3529 OpenAlex: https://openalex.org/W2303475965
    Crossref OpenAlex
  5. Jakob Grove , Jakob Grove , Stephan Ripke , Thomas D. Als , Manuel Mattheisen , Raymond K. Walters et al. (2019). Identification of common genetic risk variants for autism spectrum disorder . Nature Genetics, 51(3), 431-444. Springer Science and Business Media LLC.
    Type: Article DOI: 10.1038/s41588-019-0344-8 OpenAlex: https://openalex.org/W2914482125
    Crossref OpenAlex
  6. Francisco M. Olmos-Vega , Renée E. Stalmeijer , Lara Varpio , Renate Kahlke (2023). A practical guide to reflexivity in qualitative research: AMEE guide No. 149 . Med. Teach., 45(3), 241. Informa UK Limited.
    Type: Article DOI: 10.1080/0142159x.2022.2057287 OpenAlex: https://openalex.org/W4225944184
    Crossref OpenAlex
  7. Scott M. Myers , Thomas D. Challman , Raphael Bernier , Thomas Bourgeron , Wendy K. Chung , John N. Constantino et al. (2020). Insufficient Evidence for “Autism-Specific” Genes . The American Journal of Human Genetics, 106(5), 587-595. Elsevier BV.
    Type: Article DOI: 10.1016/j.ajhg.2020.04.004 OpenAlex: https://openalex.org/W3021863050
    Crossref OpenAlex
  8. Nicole E. Rosen , Catherine Lord , Fred R. Volkmar (2021). The Diagnosis of Autism: From Kanner to DSM-III to DSM-5 and Beyond . Journal of Autism and Developmental Disorders, 51(12), 4253-4270. Springer Science and Business Media LLC.
    Type: Article DOI: 10.1007/s10803-021-04904-1 OpenAlex: https://openalex.org/W3130188805
    Crossref OpenAlex
  9. Iram Shafqat , Kashia A. Rosenau , Julian A. Martinez-Agosto (2022). The Role of Genetic Testing Among Autistic Individuals . Pediatrics, 149(Supplement 4). American Academy of Pediatrics (AAP).
    Type: Article DOI: 10.1542/peds.2020-049437l OpenAlex: https://openalex.org/W4220699553
    Crossref OpenAlex
  10. Aviya Litman , Natalie Sauerwald , LeeAnne Green Snyder , Jennifer H. Foss‐Feig , Christopher Y. Park , Yun Hao et al. (2025). Decomposition of phenotypic heterogeneity in autism reveals underlying genetic programs . Nature Genetics, 57(7), 1611-1619. Springer Science and Business Media LLC.
    Type: Article DOI: 10.1038/s41588-025-02224-z OpenAlex: https://openalex.org/W4412150895
    Crossref OpenAlex
  11. Jack M. Fu , F. Kyle Satterstrom , Minshi Peng , Harrison Brand , Ryan L. Collins , Shan Dong et al. (2022). Rare coding variation provides insight into the genetic architecture and phenotypic context of autism . Nature Genetics, 54(9), 1320-1331. Springer Science and Business Media LLC.
    Type: Article DOI: 10.1038/s41588-022-01104-0 OpenAlex: https://openalex.org/W4293068820
    Crossref OpenAlex
  12. Manuel Mattheisen , Jakob Grove , Thomas D. Als , Joanna Martin , Georgios Voloudakis , Sandra Meier et al. (2022). Identification of shared and differentiating genetic architecture for autism spectrum disorder, attention-deficit hyperactivity disorder and case subgroups . Nature Genetics, 54(10), 1470-1478. Springer Science and Business Media LLC.
    Type: Article DOI: 10.1038/s41588-022-01171-3 OpenAlex: https://openalex.org/W4297242151
    Crossref OpenAlex
  13. Loryn Byres , Emily Morris , Jehannine Austin (2023). Exploring Autistic adults’ perspectives on genetic testing for autism . Genet Med, 25(8), 100021. Elsevier BV.
    Type: Article DOI: 10.1016/j.gim.2023.100021 OpenAlex: https://openalex.org/W4317627181
    Crossref OpenAlex
  14. Vahe Khachadourian , Behrang Mahjani , Sven Sandin , Alexander Kolevzon , Joseph D. Buxbaum , Abraham Reichenberg et al. (2023). Comorbidities in autism spectrum disorder and their etiologies . Translational Psychiatry, 13(1), 71. Springer Science and Business Media LLC.
    Type: Article DOI: 10.1038/s41398-023-02374-w OpenAlex: https://openalex.org/W4322008792
    Crossref OpenAlex
  15. Samantha L. Ginn , Mawj Mandwie , Ian E. Alexander , Michael Edelstein , Mohammad R. Abedi (2024). Gene therapy clinical trials worldwide to 2023—an update . The Journal of Gene Medicine, 26(8), e3721-e3721. Wiley.
    Type: Article DOI: 10.1002/jgm.3721 OpenAlex: https://openalex.org/W4401430852
    Crossref OpenAlex