Un pont génétique entre la médecine et la neurodiversité pour l’autisme

Titre original en anglais : A Genetic Bridge Between Medicine and Neurodiversity for Autism

Sources de métadonnées utilisées pour cette référence

OpenAlex Crossref OpenCitations
En savoir plus sur les sources utilisées

Leblond, C. S., Rolland, T., Barthome, E., Mougin, Z., Fleury, M., Ecker, C., Bonnot-Briey, S., Cliquet, F., Tabet, A., Maruani, A., Chaumette, B., Green, J., Delorme, R., & Bourgeron, T. (2024). A Genetic Bridge Between Medicine and Neurodiversity for Autism. Annual Review of Genetics, 58(1), 487-512. https://doi.org/10.1146/annurev-genet-111523-102614

Date de publication: 25/11/2024 Ajout dans AutiHub: 05/07/2026 Type: Article Langue de l’article: Anglais
Source OpenAlex Source éditeur (DOI) Texte intégral

Cette publication est intégrée dans AutiHub via :

Auteurs

Auteur·ices des publications
14
Auteur·ices de la publication identifié·es comme autistes
1 / 14 (7,1 %)
  1. Claire S. Leblond
  2. Thomas Rolland
  3. Eli Barthome
  4. Zakaria Mougin
  5. Mathis Fleury
  1. Christine Ecker
  2. Stéf Bonnot-Briey *
  3. Freddy Cliquet
  4. Anne‐Claude Tabet
  5. Anna Maruani
  1. Boris Chaumette
  2. Jonathan Green
  3. Richard Delorme
  4. Thomas Bourgeron

Résumé

L’autisme représente un vaste spectre d’individus divers présentant des architectures génétiques sous-jacentes et des besoins variables. Chez certains individus, une seule variante génétique de novo ou ultra-rare a un effet important sur l’intensité de dimensions spécifiques du phénotype, tandis que, chez d’autres, une combinaison de milliers de variantes couramment trouvées dans la population générale est impliquée. Les variantes à fort impact sont retrouvées chez jusqu’à 30 % des individus autistes présentant une déficience intellectuelle, un retard significatif de la parole, un retard moteur et/ou des crises épileptiques. Les variantes communes sont partagées avec celles retrouvées chez les individus présentant un trouble du déficit de l’attention avec hyperactivité, des troubles dépressifs majeurs, un niveau d’instruction plus élevé et de meilleures performances cognitives, ce qui suggère des architectures génétiques qui se chevauchent. Les variantes génétiques modulent la fonction des protéines de remodelage de la chromatine et des protéines synaptiques qui influencent la connectivité des circuits neuronaux et, en interaction avec l’environnement de chaque individu, la trajectoire cognitive et personnelle ultérieure de l’enfant. Globalement, cette hétérogénéité génétique reflète la diversité phénotypique des individus autistes et fournit un pont utile entre les perspectives biomédicales et de neurodiversité. Nous proposons que la recherche participative et multidisciplinaire utilise ces informations afin de mieux comprendre les évaluations, les traitements et les aménagements dont les individus autistes et les familles ont besoin.

Autism represents a large spectrum of diverse individuals with varying underlying genetic architectures and needs. For some individuals, a single de novo or ultrarare genetic variant has a large effect on the intensity of specific dimensions of the phenotype, while, for others, a combination of thousands of variants commonly found in the general population are involved. The variants with large impact are found in up to 30% of autistic individuals presenting with intellectual disability, significant speech delay, motor delay, and/or seizures. The common variants are shared with those found in individuals with attention-deficit/hyperactivity disorder, major depressive disorders, greater educational attainment, and higher cognitive performance, suggesting overlapping genetic architectures. The genetic variants modulate the function of chromatin remodeling and synaptic proteins that influence the connectivity of neuronal circuits and, in interaction with the environment of each individual, the subsequent cognitive and personal trajectory of the child. Overall, this genetic heterogeneity mirrors the phenotypic diversity of autistic individuals and provides a helpful bridge between biomedical and neurodiversity perspectives. We propose that participative and multidisciplinary research should use this information to understand better the assessment, treatments, and accommodations that individuals with autism and families need.

Bibliographie citée par cette référence

Les références citées sont importées depuis des sources externes de métadonnées lorsqu’elles sont disponibles. La liste peut être partielle.

Vue d’ensemble de l’inclusion dans la bibliographie

Ces indicateurs décrivent la bibliographie citée importée pour cette publication. Les métriques de références citées utilisent le total des références citées comme dénominateur. Les métriques d’auteurices cité·es indiquent si elles utilisent toutes les occurrences d’auteurices cité·es ou seulement les occurrences rattachées à des auteurices déjà intégré·es à la base de données AutiHub. Ils utilisent les rattachements mis en cache entre les auteurices cité·es et les auteurices intégré·es à la base de données AutiHub. Dernier calcul : 16/08/2026 11:30.

Références citées
170
Nombre total de références citées intégrées pour cette publication.
Références citées avec un·e auteur·ice identifié·e comme autiste
5 / 170 (2,9 %)
Occurrences d’auteur·ices cité·es identifié·es comme autistes
7 / 3771 (0,2 %)
Parmi les occurrences rattachées à des auteurices intégré·es à la base de données AutiHub : 7 / 514 (1,4 %). Auteurices cité·es distinct·es identifié·es comme autistes : 6 / 2895 (0,2 %).
Occurrences citées rattachées à la base AutiHub
514 / 3771 (13,6 %)
Auteurices cité·es distinct·es rattaché·es : 165 / 2895 (5,7 %)
Occurrences rattachées, non identifiées comme autistes
507 / 514 (98,6 %)
Parmi les seules occurrences rattachées. Sur l’ensemble des occurrences d’auteurices cité·es : 507 / 3771 (13,4 %). Auteurices cité·es distinct·es rattaché·es, non identifié·es comme autistes : 159 / 165 (96,4 %).
  1. Theodore Page (2000). Metabolic Approaches to the Treatment of Autism Spectrum Disorders . Journal of Autism and Developmental Disorders, 30(5), 463-469. Springer Science and Business Media LLC.
    Type: Article DOI: 10.1023/a:1005563926383 OpenAlex: https://openalex.org/W203719339
    Crossref OpenAlex OpenCitations
  2. Ramkumar Aishworiya , Tatiana Valica , Randi J. Hagerman , Bibiana Restrepo (2022). An Update on Psychopharmacological Treatment of Autism Spectrum Disorder . Neurotherapeutics, 19(1), 248-262. Elsevier BV.
    Type: Article DOI: 10.1007/s13311-022-01183-1 OpenAlex: https://openalex.org/W4206549649
    Crossref OpenAlex OpenCitations
  3. Tychele N. Turner , Evan E. Eichler (2019). The Role of De Novo Noncoding Regulatory Mutations in Neurodevelopmental Disorders . Trends in Neurosciences, 42(2), 115-127. Elsevier BV.
    Type: Article DOI: 10.1016/j.tins.2018.11.002 OpenAlex: https://openalex.org/W2903657015
    Crossref OpenAlex OpenCitations
  4. Thomas Bourgeron (2015). From the genetic architecture to synaptic plasticity in autism spectrum disorder . Nature Reviews Neuroscience, 16(9), 551-563. Springer Science and Business Media LLC.
    Type: Article DOI: 10.1038/nrn3992 OpenAlex: https://openalex.org/W1168911763
    Crossref OpenAlex OpenCitations
  5. Guy Amit , Yonatan Bilu , Tamar Sudry , Meytal Avgil Tsadok , Deena R. Zimmerman , Ravit Baruch et al. (2024). Early Prediction of Autistic Spectrum Disorder Using Developmental Surveillance Data . JAMA Network Open, 7(1), e2351052. American Medical Association (AMA).
    Type: Article DOI: 10.1001/jamanetworkopen.2023.51052 OpenAlex: https://openalex.org/W4390704938
    Crossref OpenAlex OpenCitations
  6. Javier Rasero , Antonio Jimenez-Marin , Ibai Diez , Roberto Toro , Mazahir T. Hasan , Jesus M. Cortes (2023). The Neurogenetics of Functional Connectivity Alterations in Autism: Insights From Subtyping in 657 Individuals . Biological Psychiatry, 94(10), 804-813. Elsevier BV.
    Type: Article DOI: 10.1016/j.biopsych.2023.04.014 OpenAlex: https://openalex.org/W4366754133
    Crossref OpenAlex OpenCitations
  7. Roberto Sacco , Stefano Gabriele , Antonio M. Persico (2015). Head circumference and brain size in autism spectrum disorder: A systematic review and meta-analysis . Psychiatry Research: Neuroimaging, 234(2), 239-251. Elsevier BV.
    Type: Article DOI: 10.1016/j.pscychresns.2015.08.016 OpenAlex: https://openalex.org/W1918697652
    Crossref OpenAlex OpenCitations
  8. Joon-Yong An , Kevin Lin , Lingxue Zhu , Donna M. Werling , Shan Dong , Harrison Brand et al. (2018). Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder . Science, 362(6420), eaat6576. American Association for the Advancement of Science (AAAS).
    Type: Article DOI: 10.1126/science.aat6576 OpenAlex: https://openalex.org/W2903631495
    Crossref OpenAlex OpenCitations
  9. Kihoon Han , J. Lloyd Holder Jr , Christian P. Schaaf , Hui Lu , Hongmei Chen , Hyojin Kang et al. (2013). SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties . Nature, 503(7474), 72-77. Springer Science and Business Media LLC.
    Type: Article DOI: 10.1038/nature12630 OpenAlex: https://openalex.org/W2074261331
    Crossref OpenAlex OpenCitations
  10. Simon Baron-Cohen , Daniel C. Bowen , Rosemary Holt , Carrie Allison , Bonnie Auyeung , Michael Lombardo et al. (2015). The “Reading the Mind in the Eyes” Test: Complete Absence of Typical Sex Difference in ~400 Men and Women with Autism . PLOS ONE, 10(8), e0136521. Public Library of Science (PLoS).
    Type: Article DOI: 10.1371/journal.pone.0136521 OpenAlex: https://openalex.org/W1943649909
    Crossref OpenAlex OpenCitations
  11. Danny Antaki , James Guevara , Adam X. Maihofer , Marieke Klein , Madhusudan Gujral , Jakob Grove et al. (2022). A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex . Nature Genetics, 54(9), 1284-1292. Springer Science and Business Media LLC.
    Type: Article DOI: 10.1038/s41588-022-01064-5 OpenAlex: https://openalex.org/W4281713460
    Crossref OpenAlex OpenCitations
  12. Lucas G. S. França , Judit Ciarrusta , Oliver Gale-Grant , Sunniva Fenn-Moltu , Sean Fitzgibbon , Andrew Chew et al. (2024). Neonatal brain dynamic functional connectivity in term and preterm infants and its association with early childhood neurodevelopment . Nature Communications, 15(1), 16. Springer Science and Business Media LLC.
    Type: Article DOI: 10.1038/s41467-023-44050-z OpenAlex: https://openalex.org/W4391652976
    Crossref OpenAlex OpenCitations
  13. Richard Delorme , Elodie Ey , Roberto Toro , Marion Leboyer , Christopher Gillberg , Thomas Bourgeron (2013). Progress toward treatments for synaptic defects in autism . Nature Medicine, 19(6), 685-694. Springer Science and Business Media LLC.
    Type: Article DOI: 10.1038/nm.3193 OpenAlex: https://openalex.org/W1966765276
    Crossref OpenAlex OpenCitations
  14. Anne B. Arnett , Jennifer S. Beighley , Evangeline C. Kurtz‐Nelson , Kendra Hoekzema , Tianyun Wang , Raphe A. Bernier et al. (2020). Developmental Predictors of Cognitive and Adaptive Outcomes in Genetic Subtypes of Autism Spectrum Disorder . Autism Research, 13(10), 1659-1669. Wiley.
    Type: Article DOI: 10.1002/aur.2385 OpenAlex: https://openalex.org/W3086188522
    Crossref OpenAlex OpenCitations
  15. Elise Robinson (2011). Evidence That Autistic Traits Show the Same Etiology in the General Population and at the Quantitative Extremes (5%, 2.5%, and 1%) . Archives of General Psychiatry, 68(11), 1113. American Medical Association (AMA).
    Type: Article DOI: 10.1001/archgenpsychiatry.2011.119 OpenAlex: https://openalex.org/W2040451230
    Crossref OpenAlex OpenCitations
  16. Roberto Toro , Marina Konyukh , Richard Delorme , Claire S. Leblond , Pauline Chaste , Fabien Fauchereau et al. (2010). Key role for gene dosage and synaptic homeostasis in autism spectrum disorders . Trends in Genetics, 26(8), 363-372. Elsevier BV.
    Type: Article DOI: 10.1016/j.tig.2010.05.007 OpenAlex: https://openalex.org/W1973880590
    Crossref OpenAlex OpenCitations
  17. Anne B. Arnett , Tianyun Wang , Evan E. Eichler , Raphael A. Bernier (2021). Reflections on the genetics-first approach to advancements in molecular genetic and neurobiological research on neurodevelopmental disorders . Journal of Neurodevelopmental Disorders, 13(1), 24. Springer Science and Business Media LLC.
    Type: Article DOI: 10.1186/s11689-021-09371-4 OpenAlex: https://openalex.org/W3175990982
    Crossref OpenAlex OpenCitations
  18. Yunhe Huang , Samuel R. C. Arnold , Kitty‐Rose Foley , Julian N Trollor (2020). Diagnosis of autism in adulthood: A scoping review . Autism, 24(6), 1311-1327. SAGE Publications.
    Type: Article DOI: 10.1177/1362361320903128 OpenAlex: https://openalex.org/W3008810253
    Crossref OpenAlex OpenCitations
  19. Thomas Insel , Bruce Cuthbert , Marjorie Garvey , Robert Heinssen , Daniel S. Pine , Kevin Quinn et al. (2010). Research Domain Criteria (RDoC): Toward a New Classification Framework for Research on Mental Disorders . American Journal of Psychiatry, 167(7), 748-751. American Psychiatric Association Publishing.
    Type: Article DOI: 10.1176/appi.ajp.2010.09091379 OpenAlex: https://openalex.org/W1977465442
    Crossref OpenAlex OpenCitations
  20. Péter Szatmári , Ann P Thompson , Ping Guo Tepper , Andrew D Paterson , Xiao-Qing Liu , Jennifer L Skaug et al. (2007). Mapping autism risk loci using genetic linkage and chromosomal rearrangements . Nature Genetics, 39(3), 319-328. Springer Science and Business Media LLC.
    Type: Article DOI: 10.1038/ng1985 OpenAlex: https://openalex.org/W2151566815
    Crossref OpenAlex OpenCitations
  21. Bridgette A. Moffitt , Sara M. Sarasua , Linda Ward , Diana Ivankovic , Kathleen Valentine , Curtis Rogers et al. (2022). Sleep and Phelan–McDermid Syndrome: Lessons from the International Registry and the scientific literature . Molecular Genetics & Genomic Medicine, 10(10), e2035. Wiley.
    Type: Article DOI: 10.1002/mgg3.2035 OpenAlex: https://openalex.org/W4292707662
    Crossref OpenAlex OpenCitations
  22. J Melke , H Goubran Botros , P Chaste , C Betancur , G Nygren , H Anckarsäter et al. (2008). Abnormal melatonin synthesis in autism spectrum disorders . Molecular Psychiatry, 13(1), 90-98. Springer Science and Business Media LLC.
    Type: Article DOI: 10.1038/sj.mp.4002016 OpenAlex: https://openalex.org/W1982054620
    Crossref OpenAlex OpenCitations
  23. Dan Bai , Benjamin Hon Kei Yip , Gayle C. Windham , Andre Sourander , Richard Francis , Rinat Yoffe et al. (2019). Association of Genetic and Environmental Factors With Autism in a 5-Country Cohort . JAMA Psychiatry, 76(10), 1035. American Medical Association (AMA).
    Type: Article DOI: 10.1001/jamapsychiatry.2019.1411 OpenAlex: https://openalex.org/W2959289532
    Crossref OpenAlex OpenCitations
  24. Anita Beggiato , Hugo Peyre , Anna Maruani , Isabelle Scheid , Maria Rastam , Frédérique Amsellem et al. (2017). Gender differences in autism spectrum disorders: Divergence among specific core symptoms . Autism Research, 10(4), 680-689. Wiley.
    Type: Article DOI: 10.1002/aur.1715 OpenAlex: https://openalex.org/W2548380811
    Crossref OpenAlex OpenCitations
  25. Christelle M Durand , Catalina Betancur , Tobias M Boeckers , Juergen Bockmann , Pauline Chaste , Fabien Fauchereau et al. (2007). Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders . Nature Genetics, 39(1), 25-27. Springer Science and Business Media LLC.
    Type: Article DOI: 10.1038/ng1933 OpenAlex: https://openalex.org/W1983194657
    Crossref OpenAlex OpenCitations
  26. Danielle Baribeau , Jacob Vorstman , Evdokia Anagnostou (2022). Novel treatments in autism spectrum disorder . Current Opinion in Psychiatry, 35(2), 101-110. Ovid Technologies (Wolters Kluwer Health).
    Type: Article DOI: 10.1097/yco.0000000000000775 OpenAlex: https://openalex.org/W4205314772
    Crossref OpenAlex OpenCitations
  27. Daniel J. Weiner , Emi Ling , Serkan Erdin , Derek J. C. Tai , Rachita Yadav , Jakob Grove et al. (2022). Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p . Nature Genetics, 54(11), 1630-1639. Springer Science and Business Media LLC.
    Type: Article DOI: 10.1038/s41588-022-01203-y OpenAlex: https://openalex.org/W4307657653
    Crossref OpenAlex OpenCitations
  28. Robert Didden , Jeff Sigafoos (2001). A review of the nature and treatment of sleep disorders in individuals with developmental disabilities☆ . Research in Developmental Disabilities, 22(4), 255-272. Elsevier BV.
    Type: Article DOI: 10.1016/s0891-4222(01)00071-3 OpenAlex: https://openalex.org/W2024764467
    Crossref OpenAlex OpenCitations
  29. Simon Baron-Cohen (2017). Editorial Perspective: Neurodiversity – a revolutionary concept for autism and psychiatry . Journal of Child Psychology and Psychiatry, 58(6), 744-747. Wiley.
    Type: Article DOI: 10.1111/jcpp.12703 OpenAlex: https://openalex.org/W2614229743
    Crossref OpenAlex OpenCitations
  30. Qianliang Li , Ricarda F. Weiland , Ivana Konvalinka , Huibert D. Mansvelder , Tobias S. Andersen , Dirk J. A. Smit et al. (2022). Intellectually able adults with autism spectrum disorder show typical resting-state EEG activity . Scientific Reports, 12(1), 19016. Springer Science and Business Media LLC.
    Type: Article DOI: 10.1038/s41598-022-22597-z OpenAlex: https://openalex.org/W4308573579
    Crossref OpenAlex OpenCitations
  31. 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 OpenCitations
  32. JOHN N. CONSTANTINO (2011). The Quantitative Nature of Autistic Social Impairment . Pediatric Research, 69(5 Part 2), 55R-62R. Springer Science and Business Media LLC.
    Type: Article DOI: 10.1203/pdr.0b013e318212ec6e OpenAlex: https://openalex.org/W2058324506
    Crossref OpenAlex OpenCitations
  33. Simon Baron-Cohen , Sally Wheelwright , Richard Skinner , Joanne Martin , Emma Clubley (2001). The Autism-Spectrum Quotient (AQ): Evidence from Asperger Syndrome/High-Functioning Autism, Males and Females, Scientists and Mathematicians . Journal of Autism and Developmental Disorders, 31(1), 5-17. Springer Science and Business Media LLC.
    Type: Article DOI: 10.1023/a:1005653411471 OpenAlex: https://openalex.org/W2100254283
    Crossref OpenAlex OpenCitations
  34. Huda Y. Zoghbi (2003). Postnatal Neurodevelopmental Disorders: Meeting at the Synapse? Science, 302(5646), 826-830. American Association for the Advancement of Science (AAAS).
    Type: Article DOI: 10.1126/science.1089071 OpenAlex: https://openalex.org/W2065857393
    Crossref OpenAlex OpenCitations
  35. Saashi A. Bedford , Meng-Chuan Lai , Michael Lombardo , Bhismadev Chakrabarti , Amber Ruigrok , John Suckling et al. (2023). Brain-charting autism and attention deficit hyperactivity disorder reveals distinct and overlapping neurobiology . medRxiv. openRxiv.
    Type: Prépublication DOI: 10.1101/2023.12.06.23299587 OpenAlex: https://openalex.org/W4389425853
    Crossref OpenAlex
  36. Ya Wen , Martha R. Herbert (2017). Connecting the dots: Overlaps between autism and cancer suggest possible common mechanisms regarding signaling pathways related to metabolic alterations . Medical Hypotheses, 103, 118-123. Elsevier BV.
    Type: Article DOI: 10.1016/j.mehy.2017.05.004 OpenAlex: https://openalex.org/W2611260678
    Crossref OpenAlex OpenCitations
  37. Lucy R. Osborne , Carolyn B. Mervis (2007). Rearrangements of the Williams–Beuren syndrome locus: molecular basis and implications for speech and language development . Expert Reviews in Molecular Medicine, 9(15), 1-16. Cambridge University Press (CUP).
    Type: Article DOI: 10.1017/s146239940700035x OpenAlex: https://openalex.org/W2069040148
    Crossref OpenAlex OpenCitations
  38. Rafael Romero-Garcia , Varun Warrier , Edward T. Bullmore , Simon Baron-Cohen , Richard A. I. Bethlehem (2019). Synaptic and transcriptionally downregulated genes are associated with cortical thickness differences in autism . Molecular Psychiatry, 24(7), 1053-1064. Springer Science and Business Media LLC.
    Type: Article DOI: 10.1038/s41380-018-0023-7 OpenAlex: https://openalex.org/W2950447704
    Crossref OpenAlex OpenCitations
  39. Neelroop N. Parikshak , Rui Luo , Alice Zhang , Hyejung Won , Jennifer Lowe , Vijayendran Chandran et al. (2013). Integrative Functional Genomic Analyses Implicate Specific Molecular Pathways and Circuits in Autism . Cell, 155(5), 1008-1021. Elsevier BV.
    Type: Article DOI: 10.1016/j.cell.2013.10.031 OpenAlex: https://openalex.org/W2071598557
    Crossref OpenAlex OpenCitations
  40. Matthew K. Belmonte (2022). Motor symptoms in the ASD diagnostic criteria: A conservative perspective . Autism Research, 15(9), 1582-1584. Wiley.
    Type: Article DOI: 10.1002/aur.2793 OpenAlex: https://openalex.org/W4291512131
    Crossref OpenAlex OpenCitations
  41. C Pagan , Richard Delorme , J Callebert , H Goubran-Botros , Frédérique Amsellem , X Drouot et al. (2014). The serotonin-N-acetylserotonin–melatonin pathway as a biomarker for autism spectrum disorders . Translational Psychiatry, 4(11), e479-e479. Springer Science and Business Media LLC.
    Type: Article DOI: 10.1038/tp.2014.120 OpenAlex: https://openalex.org/W2073804342
    Crossref OpenAlex OpenCitations
  42. Stefano Berto , Alex H. Treacher , Emre Caglayan , Danni Luo , Jillian R. Haney , Michael J. Gandal et al. (2022). Association between resting-state functional brain connectivity and gene expression is altered in autism spectrum disorder . Nature Communications, 13(1), 3328. Springer Science and Business Media LLC.
    Type: Article DOI: 10.1038/s41467-022-31053-5 OpenAlex: https://openalex.org/W4281790503
    Crossref OpenAlex OpenCitations
  43. Aline Lefebvre , Julian Tillmann , Freddy Cliquet , Frédérique Amsellem , Anna Maruani , Claire S. Leblond et al. (2023). Tackling hypo and hyper sensory processing heterogeneity in autism: From clinical stratification to genetic pathways . Autism Research, 16(2), 364-378. Wiley.
    Type: Article DOI: 10.1002/aur.2861 OpenAlex: https://openalex.org/W4310671753
    Crossref OpenAlex OpenCitations
  45. Christina Q. Nguyen , Didu Kariyawasam , Kristine Alba‐Concepcion , Sarah Grattan , Kate Hetherington , Claire E. Wakefield et al. (2022). ‘Advocacy groups are the connectors’: Experiences and contributions of rare disease patient organization leaders in advanced neurotherapeutics . Health Expectations, 25(6), 3175-3191. Wiley.
    Type: Article DOI: 10.1111/hex.13625 OpenAlex: https://openalex.org/W4307516760
    Crossref OpenAlex OpenCitations
  46. D A Rossignol , R E Frye (2012). Mitochondrial dysfunction in autism spectrum disorders: a systematic review and meta-analysis . Molecular Psychiatry, 17(3), 290-314. Springer Science and Business Media LLC.
    Type: Article DOI: 10.1038/mp.2010.136 OpenAlex: https://openalex.org/W2082548421
    Crossref OpenAlex OpenCitations
  47. Melissa H. Black , Karl Lundin Remnélius , Lovisa Alehagen , Thomas Bourgeron , Sven Bölte (2025). From Symptomatology to Functioning - Applying the ICF to Autism Measures to Facilitate Neurodiversity-Affirmative Data Harmonization . Journal of Autism and Developmental Disorders, 55(1), 114-129. Springer Science and Business Media LLC.
    Type: Article DOI: 10.1007/s10803-023-06204-2 OpenAlex: https://openalex.org/W4389568342
    Crossref OpenAlex
  48. Fenja Schlag , Andrea G. Allegrini , Jan K. Buitelaar , Ellen Verhoef , Marjolein van Donkelaar , Robert Plomin et al. (2022). Polygenic risk for mental disorder reveals distinct association profiles across social behaviour in the general population . Molecular Psychiatry, 27(3), 1588-1598. Springer Science and Business Media LLC.
    Type: Article DOI: 10.1038/s41380-021-01419-0 OpenAlex: https://openalex.org/W4214599922
    Crossref OpenAlex OpenCitations
  49. Hélène De Leersnyder , Marie-Christine de Blois , Bruno Claustrat , Serge Romana , Urs Albrecht , Jürgen-Christoph von Kleist-Retzow et al. (2001). Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome . The Journal of Pediatrics, 139(1), 111-116. Elsevier BV.
    Type: Article DOI: 10.1067/mpd.2001.115018 OpenAlex: https://openalex.org/W2084434716
    Crossref OpenAlex OpenCitations
  51. Stephane E. Castel , Alejandra Cervera , Pejman Mohammadi , François Aguet , Ferran Reverter , Aaron Wolman et al. (2018). Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk . Nature Genetics, 50(9), 1327-1334. Springer Science and Business Media LLC.
    Type: Article DOI: 10.1038/s41588-018-0192-y OpenAlex: https://openalex.org/W2885204059
    Crossref OpenAlex OpenCitations
  52. Monica Zilbovicius , Isabelle Meresse , Nadia Chabane , Francis Brunelle , Yves Samson , Nathalie Boddaert (2006). Autism, the superior temporal sulcus and social perception . Trends in Neurosciences, 29(7), 359-366. Elsevier BV.
    Type: Article DOI: 10.1016/j.tins.2006.06.004 OpenAlex: https://openalex.org/W2085199634
    Crossref OpenAlex OpenCitations
  53. (2011). Test Review: Social Responsiveness Scale by J. N. Constantino and C. P. Gruber . Assessm. Eff. Interv., 36(3), 192.
    Type: Autre
    Crossref
  54. Andrew Pickles , Deborah K. Anderson , Catherine Lord (2014). Heterogeneity and plasticity in the development of language: a 17‐year follow‐up of children referred early for possible autism . Journal of Child Psychology and Psychiatry, 55(12), 1354-1362. Wiley.
    Type: Article DOI: 10.1111/jcpp.12269 OpenAlex: https://openalex.org/W2169191843
    Crossref OpenAlex OpenCitations
  55. Christopher Gillberg (2010). The ESSENCE in child psychiatry: Early Symptomatic Syndromes Eliciting Neurodevelopmental Clinical Examinations . Research in Developmental Disabilities, 31(6), 1543-1551. Elsevier BV.
    Type: Article DOI: 10.1016/j.ridd.2010.06.002 OpenAlex: https://openalex.org/W2099620370
    Crossref OpenAlex OpenCitations
  56. William M. Brandler , Danny Antaki , Madhusudan Gujral , Morgan L. Kleiber , Joe Whitney , Michelle S. Maile et al. (2018). Paternally inherited cis-regulatory structural variants are associated with autism . Science, 360(6386), 327-331. American Association for the Advancement of Science (AAAS).
    Type: Article DOI: 10.1126/science.aan2261 OpenAlex: https://openalex.org/W2799343775
    Crossref OpenAlex OpenCitations
  57. Christine Ecker , Cedric Ginestet , Yue Feng , Patrick Johnston , Michael Lombardo , Meng-Chuan Lai et al. (2013). Brain Surface Anatomy in Adults With Autism . JAMA Psychiatry, 70(1), 59. American Medical Association (AMA).
    Type: Article DOI: 10.1001/jamapsychiatry.2013.265 OpenAlex: https://openalex.org/W2105467005
    Crossref OpenAlex OpenCitations
  58. Victoria EA Brunsdon , Francesca Happé (2014). Exploring the ‘fractionation’ of autism at the cognitive level . Autism, 18(1), 17-30. SAGE Publications.
    Type: Article DOI: 10.1177/1362361313499456 OpenAlex: https://openalex.org/W2107536993
    Crossref OpenAlex OpenCitations
  59. Christian O’Reilly , John D. Lewis , Mayada Elsabbagh (2017). Is functional brain connectivity atypical in autism? A systematic review of EEG and MEG studies . PLOS ONE, 12(5), e0175870. Public Library of Science (PLoS).
    Type: Article DOI: 10.1371/journal.pone.0175870 OpenAlex: https://openalex.org/W2610209740
    Crossref OpenAlex OpenCitations
  60. Schizophrenia Working Group of the Psychiatric Genomics Consortium , Brendan K Bulik-Sullivan , Po-Ru Loh , Hilary K Finucane , Stephan Ripke , Jian Yang et al. (2015). LD Score regression distinguishes confounding from polygenicity in genome-wide association studies . Nature Genetics, 47(3), 291-295. Springer Science and Business Media LLC.
    Type: Article DOI: 10.1038/ng.3211 OpenAlex: https://openalex.org/W2153860431
    Crossref OpenAlex OpenCitations
  61. Joshua K. Lee , Derek Sayre Andrews , Sally Ozonoff , Marjorie Solomon , Sally J. Rogers , David G. Amaral et al. (2021). Longitudinal Evaluation of Cerebral Growth Across Childhood in Boys and Girls With Autism Spectrum Disorder . Biological Psychiatry, 90(5), 286-294. Elsevier BV.
    Type: Article DOI: 10.1016/j.biopsych.2020.10.014 OpenAlex: https://openalex.org/W3095186144
    Crossref OpenAlex OpenCitations
  62. Paris Autism Research International Sibpair Study , Stéphane Jamain , Hélène Quach , Catalina Betancur , Maria Råstam , Catherine Colineaux et al. (2003). Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism . Nature Genetics, 34(1), 27-29. Springer Science and Business Media LLC.
    Type: Article DOI: 10.1038/ng1136 OpenAlex: https://openalex.org/W2125147395
    Crossref OpenAlex OpenCitations
  63. Manuel F. Casanova , Richard E. Frye , Christopher Gillberg , Emily L. Casanova (2020). Editorial: Comorbidity and Autism Spectrum Disorder . Frontiers in Psychiatry, 11, 617395-617395. Frontiers Media SA.
    Type: Article DOI: 10.3389/fpsyt.2020.617395 OpenAlex: https://openalex.org/W3107683279
    Crossref OpenAlex OpenCitations
  64. Laurent Mottron (2021). A radical change in our autism research strategy is needed: Back to prototypes . Autism Research, 14(10), 2213-2220. Wiley.
    Type: Article DOI: 10.1002/aur.2494 OpenAlex: https://openalex.org/W3164845480
    Crossref OpenAlex OpenCitations
  65. Timothy W. Yu , Maria H. Chahrour , Michael E. Coulter , Sarn Jiralerspong , Kazuko Okamura-Ikeda , Bulent Ataman et al. (2013). Using Whole-Exome Sequencing to Identify Inherited Causes of Autism . Neuron, 77(2), 259-273. Elsevier BV.
    Type: Article DOI: 10.1016/j.neuron.2012.11.002 OpenAlex: https://openalex.org/W2127003470
    Crossref OpenAlex OpenCitations
  66. Daniel Moreno-De-Luca , Christa Lese Martin (2021). All for one and one for all: heterogeneity of genetic etiologies in neurodevelopmental psychiatric disorders . Current Opinion in Genetics & Development, 68, 71-78. Elsevier BV.
    Type: Article DOI: 10.1016/j.gde.2021.02.015 OpenAlex: https://openalex.org/W3149986100
    Crossref OpenAlex OpenCitations
  67. Christine Fountain , Alix S. Winter , Peter S. Bearman (2012). Six Developmental Trajectories Characterize Children With Autism . Pediatrics, 129(5), e1112-e1120. American Academy of Pediatrics (AAP).
    Type: Article DOI: 10.1542/peds.2011-1601 OpenAlex: https://openalex.org/W2145095299
    Crossref OpenAlex OpenCitations
  68. Samuel J.R.A. Chawner , Joanne L. Doherty , Richard J. L. Anney , Kevin M. Antshel , Carrie E. Bearden , Raphael Bernier et al. (2021). A Genetics-First Approach to Dissecting the Heterogeneity of Autism: Phenotypic Comparison of Autism Risk Copy Number Variants . American Journal of Psychiatry, 178(1), 77-86. American Psychiatric Association Publishing.
    Type: Article DOI: 10.1176/appi.ajp.2020.20010015 OpenAlex: https://openalex.org/W3117598890
    Crossref OpenAlex OpenCitations
  69. Chelsea Lowther , Elise Valkanas , Jessica L. Giordano , Harold Z. Wang , Benjamin B. Currall , Kathryn O’Keefe et al. (2023). Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies . The American Journal of Human Genetics, 110(9), 1454-1469. Elsevier BV.
    Type: Article DOI: 10.1016/j.ajhg.2023.07.010 OpenAlex: https://openalex.org/W4385923689
    Crossref OpenAlex OpenCitations
  70. Samuel J. R. A. Chawner , Michael J. Owen (2022). Autism: A model of neurodevelopmental diversity informed by genomics . Frontiers in Psychiatry, 13, 981691. Frontiers Media SA.
    Type: Article DOI: 10.3389/fpsyt.2022.981691 OpenAlex: https://openalex.org/W4294243323
    Crossref OpenAlex OpenCitations
  71. Christian P. Schaaf , Catalina Betancur , Ryan K. C. Yuen , Jeremy R. Parr , David H. Skuse , Louise Gallagher et al. (2020). A framework for an evidence-based gene list relevant to autism spectrum disorder . Nature Reviews Genetics, 21(6), 367-376. Springer Science and Business Media LLC.
    Type: Article DOI: 10.1038/s41576-020-0231-2 OpenAlex: https://openalex.org/W3017117216
    Crossref OpenAlex OpenCitations
  72. Jacob A. S. Vorstman , Will Spooren , Antonio M. Persico , David A. Collier , Stefan Aigner , Ravi Jagasia et al. (2014). Using genetic findings in autism for the development of new pharmaceutical compounds . Psychopharmacology, 231(6), 1063-1078. Springer Science and Business Media LLC.
    Type: Article DOI: 10.1007/s00213-013-3334-z OpenAlex: https://openalex.org/W2153155365
    Crossref OpenAlex OpenCitations
  73. Luca Chiapperino , Kristien Hens (2023). How to talk about autism: reconciling genomics and neurodiversity . Nature Medicine, 29(7), 1607-1608. Springer Science and Business Media LLC.
    Type: Article DOI: 10.1038/s41591-023-02403-7 OpenAlex: https://openalex.org/W4382055562
    Crossref OpenAlex OpenCitations
  74. Varun Warrier , Roberto Toro , Hyejung Won , Claire S. Leblond , Freddy Cliquet , Richard Delorme et al. (2019). Social and non-social autism symptoms and trait domains are genetically dissociable . Communications Biology, 2(1), 328. Springer Science and Business Media LLC.
    Type: Article DOI: 10.1038/s42003-019-0558-4 OpenAlex: https://openalex.org/W2971680484
    Crossref OpenAlex OpenCitations
  75. (2012). The Autisms . The Autisms.
    Type: Autre
    Crossref
  76. Emilie M. Wigdor , Daniel J. Weiner , Jakob Grove , Jack M. Fu , Wesley K. Thompson , Caitlin E. Carey et al. (2022). The female protective effect against autism spectrum disorder . Cell Genomics, 2(6), 100134. Elsevier BV.
    Type: Article DOI: 10.1016/j.xgen.2022.100134 OpenAlex: https://openalex.org/W4286450915
    Crossref OpenAlex OpenCitations
  77. Ryan L. Collins , Joseph T. Glessner , Eleonora Porcu , Maarja Lepamets , Rhonda Brandon , Christopher Lauricella et al. (2022). A cross-disorder dosage sensitivity map of the human genome . Cell, 185(16), 3041-3055.e25. Elsevier BV.
    Type: Article DOI: 10.1016/j.cell.2022.06.036 OpenAlex: https://openalex.org/W4289262011
    Crossref OpenAlex OpenCitations
  78. Ido Shalev , Varun Warrier , David M. Greenberg , Paula Smith , Carrie Allison , Simon Baron-Cohen et al. (2022). Reexamining empathy in autism: Empathic disequilibrium as a novel predictor of autism diagnosis and autistic traits . Autism Research, 15(10), 1917-1928. Wiley.
    Type: Article DOI: 10.1002/aur.2794 OpenAlex: https://openalex.org/W4294090763
    Crossref OpenAlex OpenCitations
  79. Vincent T. Mensen , Lara M. Wierenga , Sarai van Dijk , Yvonne Rijks , Bob Oranje , René C.W. Mandl et al. (2017). Development of cortical thickness and surface area in autism spectrum disorder . NeuroImage: Clinical, 13, 215-222. Elsevier BV.
    Type: Article DOI: 10.1016/j.nicl.2016.12.003 OpenAlex: https://openalex.org/W2560217233
    Crossref OpenAlex OpenCitations
  80. John N. Constantino , Stefanie Kennon-McGill , Claire Weichselbaum , Natasha Marrus , Alyzeh Haider , Anne L. Glowinski et al. (2017). Infant viewing of social scenes is under genetic control and is atypical in autism . Nature, 547(7663), 340-344. Springer Science and Business Media LLC.
    Type: Article DOI: 10.1038/nature22999 OpenAlex: https://openalex.org/W2734801606
    Crossref OpenAlex OpenCitations
  81. Julia Cook , Laura Hull , Laura Crane , Will Mandy (2021). Camouflaging in autism: A systematic review . Clinical Psychology Review, 89, 102080. Elsevier BV.
    Type: Article DOI: 10.1016/j.cpr.2021.102080 OpenAlex: https://openalex.org/W3198172085
    Crossref OpenAlex OpenCitations
  82. Niek de Klein , Ellen A. Tsai , Martijn Vochteloo , Denis Baird , Yunfeng Huang , Chia-Yen Chen et al. (2023). Brain expression quantitative trait locus and network analyses reveal downstream effects and putative drivers for brain-related diseases . Nature Genetics, 55(3), 377-388. Springer Science and Business Media LLC.
    Type: Article DOI: 10.1038/s41588-023-01300-6 OpenAlex: https://openalex.org/W4321611595
    Crossref OpenAlex OpenCitations
  83. Francesca Happé , Uta Frith (2020). Annual Research Review: Looking back to look forward – changes in the concept of autism and implications for future research . Journal of Child Psychology and Psychiatry, 61(3), 218-232. Wiley.
    Type: Article DOI: 10.1111/jcpp.13176 OpenAlex: https://openalex.org/W3003423347
    Crossref OpenAlex OpenCitations
  84. Takamitsu Watanabe , Geraint Rees (2017). Brain network dynamics in high-functioning individuals with autism . Nature Communications, 8(1), 16048. Springer Science and Business Media LLC.
    Type: Article DOI: 10.1038/ncomms16048 OpenAlex: https://openalex.org/W2730632269
    Crossref OpenAlex OpenCitations
  85. iPSYCH-Broad Autism Group , Daniel J Weiner , Psychiatric Genomics Consortium Autism Group , Emilie M Wigdor , Stephan Ripke , Raymond K Walters et al. (2017). Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders . Nature Genetics, 49(7), 978-985. Springer Science and Business Media LLC.
    Type: Article DOI: 10.1038/ng.3863 OpenAlex: https://openalex.org/W2616744713
    Crossref OpenAlex OpenCitations
  86. Edmund Sonuga-Barke , Anita Thapar (2021). The neurodiversity concept: is it helpful for clinicians and scientists? The Lancet Psychiatry, 8(7), 559-561. Elsevier BV.
    Type: Article DOI: 10.1016/s2215-0366(21)00167-x OpenAlex: https://openalex.org/W3160677357
    Crossref OpenAlex OpenCitations
  87. Niklaus Denier , Gerrit Steinberg , Ludger Tebartz van Elst , Tobias Bracht (2022). The role of head circumference and cerebral volumes to phenotype male adults with autism spectrum disorder . Brain and Behavior, 12(3), e2460. Wiley.
    Type: Article DOI: 10.1002/brb3.2460 OpenAlex: https://openalex.org/W4210784269
    Crossref OpenAlex OpenCitations
  88. Dunia Garrido , Dafina Petrova , Linda R. Watson , Rocio Garcia‐Retamero , Gloria Carballo (2017). Language and motor skills in siblings of children with autism spectrum disorder: A meta‐analytic review . Autism Research, 10(11), 1737-1750. Wiley.
    Type: Article DOI: 10.1002/aur.1829 OpenAlex: https://openalex.org/W2733232108
    Crossref OpenAlex OpenCitations
  89. Alissa M. D’Gama , Christopher A. Walsh (2018). Somatic mosaicism and neurodevelopmental disease . Nature Neuroscience, 21(11), 1504-1514. Springer Science and Business Media LLC.
    Type: Article DOI: 10.1038/s41593-018-0257-3 OpenAlex: https://openalex.org/W2896521744
    Crossref OpenAlex OpenCitations
  90. Heeyeon Kim , Jae Han Kim , Junghwan Kim , Jong Yeob Kim , Samuele Cortese , Lee Smith et al. (2023). Subjective and objective sleep alterations in medication-naïve children and adolescents with autism spectrum disorder: a systematic review and meta-analysis . Epidemiology and Psychiatric Sciences, 32, e48. Cambridge University Press (CUP).
    Type: Article DOI: 10.1017/s2045796023000574 OpenAlex: https://openalex.org/W4384819980
    Crossref OpenAlex OpenCitations
  91. Erin Kang , Cara M. Keifer , Emily J. Levy , Jennifer H. Foss‐Feig , James C. McPartland , Matthew D Lerner (2018). Atypicality of the N170 Event-Related Potential in Autism Spectrum Disorder: A Meta-analysis . Biological Psychiatry: Cognitive Neuroscience and Neuroimaging, 3(8), 657-666. Elsevier BV.
    Type: Article DOI: 10.1016/j.bpsc.2017.11.003 OpenAlex: https://openalex.org/W2770107448
    Crossref OpenAlex
  92. Shengcheng Dong , Nanxiang Zhao , Emma Spragins , Meenakshi S. Kagda , Mingjie Li , Pedro Assis et al. (2023). Annotating and prioritizing human non-coding variants with RegulomeDB v.2 . Nature Genetics, 55(5), 724-726. Springer Science and Business Media LLC.
    Type: Article DOI: 10.1038/s41588-023-01365-3 OpenAlex: https://openalex.org/W4366982749
    Crossref OpenAlex OpenCitations
  93. Christian O’Reilly , Scott Huberty , Stefon van Noordt , James Desjardins , Nicky Wright , Julie Scorah et al. (2023). EEG functional connectivity in infants at elevated familial likelihood for autism spectrum disorder . Molecular Autism, 14(1), 37. Springer Science and Business Media LLC.
    Type: Article DOI: 10.1186/s13229-023-00570-5 OpenAlex: https://openalex.org/W4387428172
    Crossref OpenAlex OpenCitations
  94. Varun Warrier , Roberto Toro , Bhismadev Chakrabarti , the iPSYCH-Broad autism group , Anders D Børglum , Jakob Grove et al. (2018). Genome-wide analyses of self-reported empathy: correlations with autism, schizophrenia, and anorexia nervosa . Translational Psychiatry, 8(1), 35. Springer Science and Business Media LLC.
    Type: Article DOI: 10.1038/s41398-017-0082-6 OpenAlex: https://openalex.org/W2770116496
    Crossref OpenAlex OpenCitations
  95. Elise Douard , Abderrahim Zeribi , Catherine Schramm , Petra Tamer , Mor Absa Loum , Sabrina Nowak et al. (2021). Effect Sizes of Deletions and Duplications on Autism Risk Across the Genome . American Journal of Psychiatry, 178(1), 87-98. American Psychiatric Association Publishing.
    Type: Article DOI: 10.1176/appi.ajp.2020.19080834 OpenAlex: https://openalex.org/W3084703112
    Crossref OpenAlex OpenCitations
  96. Martine Lappé , Lynette Lau , Rebecca N. Dudovitz , Bergen B. Nelson , Elizabeth A. Karp , Alice A. Kuo (2018). The Diagnostic Odyssey of Autism Spectrum Disorder . Pediatrics, 141(Supplement 4), S272-S279. American Academy of Pediatrics (AAP).
    Type: Article DOI: 10.1542/peds.2016-4300c OpenAlex: https://openalex.org/W2796117794
    Crossref OpenAlex
  97. 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 OpenCitations
  98. Melisa Durkut , Elisabet Blok , Anna Suleri , Tonya White (2022). The longitudinal bidirectional relationship between autistic traits and brain morphology from childhood to adolescence: a population-based cohort study . Molecular Autism, 13(1), 31. Springer Science and Business Media LLC.
    Type: Article DOI: 10.1186/s13229-022-00504-7 OpenAlex: https://openalex.org/W4283815276
    Crossref OpenAlex OpenCitations
  99. Amy B. Wilfert , Tychele N. Turner , Shwetha C. Murali , PingHsun Hsieh , Arvis Sulovari , Tianyun Wang et al. (2021). Recent ultra-rare inherited variants implicate new autism candidate risk genes . Nature Genetics, 53(8), 1125-1134. Springer Science and Business Media LLC.
    Type: Article DOI: 10.1038/s41588-021-00899-8 OpenAlex: https://openalex.org/W3184987452
    Crossref OpenAlex OpenCitations
  100. Christine Ecker , Charlotte M. Pretzsch , Anke Bletsch , Caroline Mann , Tim Schaefer , Sara Ambrosino et al. (2022). Interindividual Differences in Cortical Thickness and Their Genomic Underpinnings in Autism Spectrum Disorder . American Journal of Psychiatry, 179(3), 242-254. American Psychiatric Association Publishing.
    Type: Article DOI: 10.1176/appi.ajp.2021.20050630 OpenAlex: https://openalex.org/W3169126825
    Crossref OpenAlex OpenCitations
  101. Maria Niarchou , Samuel J. R. A. Chawner , Joanne L. Doherty , Anne M. Maillard , Sébastien Jacquemont , Wendy K. Chung et al. (2019). Psychiatric disorders in children with 16p11.2 deletion and duplication . Translational Psychiatry, 9(1), 8. Springer Science and Business Media LLC.
    Type: Article DOI: 10.1038/s41398-018-0339-8 OpenAlex: https://openalex.org/W2902341898
    Crossref OpenAlex OpenCitations
  102. Sue Fletcher‐Watson (2022). Transdiagnostic research and the neurodiversity paradigm: commentary on the transdiagnostic revolution in neurodevelopmental disorders by Astle et al. Journal of Child Psychology and Psychiatry, 63(4), 418-420. Wiley.
    Type: Article DOI: 10.1111/jcpp.13589 OpenAlex: https://openalex.org/W4213075985
    Crossref OpenAlex OpenCitations
  103. Francesca Forzano , Olga Antonova , Angus Clarke , Guido de Wert , Sabine Hentze , Yalda Jamshidi et al. (2022). The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice . European Journal of Human Genetics, 30(5), 493-495. Springer Science and Business Media LLC.
    Type: Article DOI: 10.1038/s41431-021-01000-x OpenAlex: https://openalex.org/W4200623875
    Crossref OpenAlex OpenCitations
  104. Ellen Verhoef , Jakob Grove , Chin Yang Shapland , Ditte Demontis , Stephen Burgess , Dheeraj Rai et al. (2021). Discordant associations of educational attainment with ASD and ADHD implicate a polygenic form of pleiotropy . Nature Communications, 12(1), 6534. Springer Science and Business Media LLC.
    Type: Article DOI: 10.1038/s41467-021-26755-1 OpenAlex: https://openalex.org/W3211391835
    Crossref OpenAlex OpenCitations
  105. Jian Zhou , Christopher Y. Park , Chandra L. Theesfeld , Aaron K. Wong , Yuan Yuan , Claudia Scheckel et al. (2019). Whole-genome deep-learning analysis identifies contribution of noncoding mutations to autism risk . Nature Genetics, 51(6), 973-980. Springer Science and Business Media LLC.
    Type: Article DOI: 10.1038/s41588-019-0420-0 OpenAlex: https://openalex.org/W2946936654
    Crossref OpenAlex OpenCitations
  106. Gabriel Lázaro‐Muñoz , Maya Sabatello , Laura Huckins , Holly Peay , Franziska Degenhardt , Bettina Meiser et al. (2019). International Society of Psychiatric Genetics Ethics Committee: Issues facing us . American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 180(8), 543-554. Wiley.
    Type: Article DOI: 10.1002/ajmg.b.32736 OpenAlex: https://openalex.org/W2945853979
    Crossref OpenAlex OpenCitations
  107. Christine M. Freitag , Antonio M. Persico , Jacob A. S. Vorstman (2022). Developing Gene-Based Personalised Interventions in Autism Spectrum Disorders . Genes, 13(6), 1004. MDPI AG.
    Type: Article DOI: 10.3390/genes13061004 OpenAlex: https://openalex.org/W4281753783
    Crossref OpenAlex OpenCitations
  108. Veronica Frewer , Courtney P. Gilchrist , Simonne E. Collins , Katrina Williams , Marc L. Seal , Richard J. Leventer et al. (2021). A systematic review of brain MRI findings in monogenic disorders strongly associated with autism spectrum disorder . Journal of Child Psychology and Psychiatry, 62(11), 1339-1352. Wiley.
    Type: Article DOI: 10.1111/jcpp.13510 OpenAlex: https://openalex.org/W3194771480
    Crossref OpenAlex OpenCitations
  109. 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 OpenCitations
  110. Jinan Zeidan , Éric Fombonne , Julie Scorah , Alaa T. Ibrahim , Maureen S. Durkin , Shekhar Saxena et al. (2022). Global prevalence of autism: A systematic review update . Autism Research, 15(5), 778-790. Wiley.
    Type: Article DOI: 10.1002/aur.2696 OpenAlex: https://openalex.org/W4214849391
    Crossref OpenAlex OpenCitations
  111. Claire S. Leblond , Freddy Cliquet , Coralie Carton , Guillaume Huguet , Alexandre Mathieu , Thomas Kergrohen et al. (2019). Both rare and common genetic variants contribute to autism in the Faroe Islands . npj Genomic Medicine, 4(1), 1. Springer Science and Business Media LLC.
    Type: Article DOI: 10.1038/s41525-018-0075-2 OpenAlex: https://openalex.org/W2950791202
    Crossref OpenAlex OpenCitations
  112. Pilar Garcés , Sarah Baumeister , Luke Mason , Christopher H. Chatham , Stefan Holiga , Juergen Dukart et al. (2022). Resting state EEG power spectrum and functional connectivity in autism: a cross-sectional analysis . Molecular Autism, 13(1), 22. Springer Science and Business Media LLC.
    Type: Article DOI: 10.1186/s13229-022-00500-x OpenAlex: https://openalex.org/W4280622035
    Crossref OpenAlex OpenCitations
  113. Varun Warrier , K L Grasby , Florina Uzefovsky , Roberto Toro , Paula Smith , B Chakrabarti et al. (2018). Genome-wide meta-analysis of cognitive empathy: heritability, and correlates with sex, neuropsychiatric conditions and cognition . Molecular Psychiatry, 23(6), 1402-1409. Springer Science and Business Media LLC.
    Type: Article DOI: 10.1038/mp.2017.122 OpenAlex: https://openalex.org/W2951247507
    Crossref OpenAlex OpenCitations
  114. F. Kyle Satterstrom , Jack A. Kosmicki , Jiebiao Wang , Michael S. Breen , Silvia De Rubeis , Joon-Yong An et al. (2020). Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism . Cell, 180(3), 568-584.e23. Elsevier BV.
    Type: Article DOI: 10.1016/j.cell.2019.12.036 OpenAlex: https://openalex.org/W2955503846
    Crossref OpenAlex OpenCitations
  115. Stephen J. Gentles , Elise C Ng-Cordell , Michelle C Hunsche , Alana J. McVey , E Dimitra Bednar , Michael G DeGroote et al. (2024). Trajectory research in children with an autism diagnosis: A scoping review . Autism, 28(3), 540-564. SAGE Publications.
    Type: Article DOI: 10.1177/13623613231170280 OpenAlex: https://openalex.org/W4376871022
    Crossref OpenAlex OpenCitations
  116. Agnieszka Gidziela , Yasmin I. Ahmadzadeh , Giorgia Michelini , Andrea G. Allegrini , Jessica Agnew-Blais , Lok Yan Lau et al. (2023). A meta-analysis of genetic effects associated with neurodevelopmental disorders and co-occurring conditions . Nature Human Behaviour, 7(4), 642-656. Springer Science and Business Media LLC.
    Type: Article DOI: 10.1038/s41562-023-01530-y OpenAlex: https://openalex.org/W4321369063
    Crossref OpenAlex OpenCitations
  117. Warren Jones , Cheryl Klaiman , Shana Richardson , Christa Aoki , Christopher Smith , Mendy Minjarez et al. (2023). Eye-Tracking–Based Measurement of Social Visual Engagement Compared With Expert Clinical Diagnosis of Autism . JAMA, 330(9), 854. American Medical Association (AMA).
    Type: Article DOI: 10.1001/jama.2023.13295 OpenAlex: https://openalex.org/W4386438037
    Crossref OpenAlex OpenCitations
  118. Benjamin Zablotsky , Lindsey I. Black , Matthew J. Maenner , Laura A. Schieve , Melissa L. Danielson , Rebecca H. Bitsko et al. (2019). Prevalence and Trends of Developmental Disabilities among Children in the United States: 2009–2017 . Pediatrics, 144(4). American Academy of Pediatrics (AAP).
    Type: Article DOI: 10.1542/peds.2019-0811 OpenAlex: https://openalex.org/W2976851556
    Crossref OpenAlex OpenCitations
  119. Corentin J. Gosling , Ariane Cartigny , Baptiste C. Mellier , Aleix Solanes , Joaquim Radua , Richard Delorme (2022). Efficacy of psychosocial interventions for Autism spectrum disorder: an umbrella review . Molecular Psychiatry, 27(9), 3647-3656. Springer Science and Business Media LLC.
    Type: Article DOI: 10.1038/s41380-022-01670-z OpenAlex: https://openalex.org/W4284704584
    Crossref OpenAlex OpenCitations
  120. Jessica Wright , Sarah Barns , Alexandra Goler , Jacob Hall , Bing Han , Irina Astrovskaya et al. (2022). eP287: Return of individual genetic results in the largest recontactable cohort of individuals with autism . Genetics in Medicine, 24(3), S181-S182. Elsevier BV.
    Type: Article DOI: 10.1016/j.gim.2022.01.322 OpenAlex: https://openalex.org/W4220728454
    Crossref OpenAlex OpenCitations
  121. Jonathan Green (2022). Autism as emergent and transactional . Frontiers in Psychiatry, 13, 988755-988755. Frontiers Media SA.
    Type: Article DOI: 10.3389/fpsyt.2022.988755 OpenAlex: https://openalex.org/W4303431894
    Crossref OpenAlex OpenCitations
  122. Thomas Husson , François Lecoquierre , Kevin Cassinari , Camille Charbonnier , Olivier Quenez , Alice Goldenberg et al. (2020). Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use . Translational Psychiatry, 10(1), 77. Springer Science and Business Media LLC.
    Type: Article DOI: 10.1038/s41398-020-0760-7 OpenAlex: https://openalex.org/W3008340044
    Crossref OpenAlex OpenCitations
  123. Jonathan Green (2023). Debate: Neurodiversity, autism and healthcare . Child and Adolescent Mental Health, 28(3), 438-442. Wiley.
    Type: Article DOI: 10.1111/camh.12663 OpenAlex: https://openalex.org/W4384025431
    Crossref OpenAlex OpenCitations
  124. David M. Greenberg , Varun Warrier , Ahmad Abu-Akel , Carrie Allison , Krzysztof Z. Gajos , Katharina Reinecke et al. (2023). Sex and age differences in “theory of mind” across 57 countries using the English version of the “Reading the Mind in the Eyes” Test . Proceedings of the National Academy of Sciences, 120(1), e2022385119. National Academy of Sciences.
    Type: Article DOI: 10.1073/pnas.2022385119 OpenAlex: https://openalex.org/W4313315358
    Crossref OpenAlex OpenCitations
  125. Matthew Jensen , Corrine Smolen , Santhosh Girirajan (2020). Gene discoveries in autism are biased towards comorbidity with intellectual disability . Journal of Medical Genetics, 57(9), 647-652. BMJ.
    Type: Article DOI: 10.1136/jmedgenet-2019-106476 OpenAlex: https://openalex.org/W3009509870
    Crossref OpenAlex OpenCitations
  126. David T. Miller , Kristy Lee , Noura S. Abul-Husn , Laura M. Amendola , Kyle Brothers , Wendy K. Chung et al. (2023). ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG) . Genetics in Medicine, 25(8), 100866. Elsevier BV.
    Type: Article DOI: 10.1016/j.gim.2023.100866 OpenAlex: https://openalex.org/W4381598122
    Crossref OpenAlex OpenCitations
  127. Nicola Specchio , Nicola Pietrafusa , Marina Trivisano , Romina Moavero , Luca De Palma , Alessandro Ferretti et al. (2020). Autism and Epilepsy in Patients With Tuberous Sclerosis Complex . Frontiers in Neurology, 11, 639. Frontiers Media SA.
    Type: Article DOI: 10.3389/fneur.2020.00639 OpenAlex: https://openalex.org/W3048700921
    Crossref OpenAlex OpenCitations
  128. Loreen Straub , Brian T. Bateman , Sonia Hernandez-Diaz , Cassandra York , Barry Lester , Katherine L. Wisner et al. (2022). Neurodevelopmental Disorders Among Publicly or Privately Insured Children in the United States . JAMA Psychiatry, 79(3), 232. American Medical Association (AMA).
    Type: Article DOI: 10.1001/jamapsychiatry.2021.3815 OpenAlex: https://openalex.org/W4205724682
    Crossref OpenAlex OpenCitations
  129. Arthur Stefanski , Yamile Calle-López , Costin Leu , Eduardo Pérez-Palma , Elia Pestana-Knight , Dennis Lal (2020). Clinical sequencing yield in epilepsy, autism spectrum disorder, and intellectual disability A systematic review and meta-analysis . Epilepsia, 62(1), 143. openRxiv.
    Type: Prépublication DOI: 10.1101/2020.05.04.20089896 OpenAlex: https://openalex.org/W3022161911
    Crossref OpenAlex
  131. Matthew J. Maenner , Kelly A. Shaw , Jon Baio , EdS1 , Anita Washington , Mary Patrick et al. (2020). Prevalence of Autism Spectrum Disorder Among Children Aged 8 Years — Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2016 . MMWR. Surveillance Summaries, 69(4), 1-12. Centers for Disease Control MMWR Office.
    Type: Article DOI: 10.15585/mmwr.ss6904a1 OpenAlex: https://openalex.org/W3027179734
    Crossref OpenAlex OpenCitations
  132. Allison R. Hickman , Bradley Selee , Rini Pauly , Benafsh Husain , Yuqing Hang , Frank Alex Feltus (2023). Discovery of eQTL Alleles Associated with Autism Spectrum Disorder: A Case–Control Study . Journal of Autism and Developmental Disorders, 53(9), 3595-3612. Springer Science and Business Media LLC.
    Type: Article DOI: 10.1007/s10803-022-05631-x OpenAlex: https://openalex.org/W4283322759
    Crossref OpenAlex OpenCitations
  133. Nicole Wolff , Sanna Stroth , Inge Kamp-Becker , Stefan Roepke , Veit Roessner (2022). Autism Spectrum Disorder and IQ – A Complex Interplay . Frontiers in Psychiatry, 13, 856084-856084. Frontiers Media SA.
    Type: Article DOI: 10.3389/fpsyt.2022.856084 OpenAlex: https://openalex.org/W4224050790
    Crossref OpenAlex OpenCitations
  134. Varun Warrier , Eva-Maria Stauffer , Qin Qin Huang , Emilie M. Wigdor , Eric A. W. Slob , Jakob Seidlitz et al. (2023). Genetic insights into human cortical organization and development through genome-wide analyses of 2,347 neuroimaging phenotypes . Nature Genetics, 55(9), 1483-1493. Springer Science and Business Media LLC.
    Type: Article DOI: 10.1038/s41588-023-01475-y OpenAlex: https://openalex.org/W4385955298
    Crossref OpenAlex OpenCitations
  135. Kotaro Yuge , Shinichiro Nagamitsu , Yuko Ishikawa , Izumi Hamada , Hiroyuki Takahashi , Hideyuki Sugioka et al. (2020). Long-term melatonin treatment for the sleep problems and aberrant behaviors of children with neurodevelopmental disorders . BMC Psychiatry, 20(1), 445. Springer Science and Business Media LLC.
    Type: Article DOI: 10.1186/s12888-020-02847-y OpenAlex: https://openalex.org/W3083816918
    Crossref OpenAlex OpenCitations
  136. Meritxell Oliva , Manuel Muñoz-Aguirre , Sarah Kim-Hellmuth , Valentin Wucher , Ariel D. H. Gewirtz , Daniel J. Cotter et al. (2020). The impact of sex on gene expression across human tissues . Science, 369(6509), eaba3066. American Association for the Advancement of Science (AAAS).
    Type: Article DOI: 10.1126/science.aba3066 OpenAlex: https://openalex.org/W3084331777
    Crossref OpenAlex OpenCitations
  137. Tianyun Wang , Chang N. Kim , Trygve E. Bakken , Madelyn A. Gillentine , Barbara Henning , Yafei Mao et al. (2022). Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders . Proceedings of the National Academy of Sciences, 119(46), e2203491119. National Academy of Sciences.
    Type: Article DOI: 10.1073/pnas.2203491119 OpenAlex: https://openalex.org/W4308654581
    Crossref OpenAlex OpenCitations
  138. Luke Mason , Carolin Moessnang , Christopher H. Chatham , Lindsay Ham , Julian Tillmann , Guillaume Dumas et al. (2022). Stratifying the autistic phenotype using electrophysiological indices of social perception . Science Translational Medicine, 14(658), eabf8987. American Association for the Advancement of Science (AAAS).
    Type: Article DOI: 10.1126/scitranslmed.abf8987 OpenAlex: https://openalex.org/W4292264383
    Crossref OpenAlex OpenCitations
  139. Pei-Yin Pan , Sven Bölte , Preet Kaur , Sadia Jamil , Ulf Jönsson (2021). Neurological disorders in autism: A systematic review and meta-analysis . Autism, 25(3), 812-830. SAGE Publications.
    Type: Article DOI: 10.1177/1362361320951370 OpenAlex: https://openalex.org/W3085019770
    Crossref OpenAlex OpenCitations
  140. Mark H. Johnson , Tony Charman , Andrew Pickles , Emily J.H. Jones (2021). Annual Research Review: Anterior Modifiers in the Emergence of Neurodevelopmental Disorders (AMEND)—a systems neuroscience approach to common developmental disorders . Journal of Child Psychology and Psychiatry, 62(5), 610-630. Wiley.
    Type: Article DOI: 10.1111/jcpp.13372 OpenAlex: https://openalex.org/W3119203665
    Crossref OpenAlex OpenCitations
  141. Joanna Kaplanis , Kaitlin E. Samocha , Laurens Wiel , Zhancheng Zhang , Kevin J. Arvai , Ruth Y. Eberhardt et al. (2020). Evidence for 28 genetic disorders discovered by combining healthcare and research data . Nature, 586(7831), 757-762. Springer Science and Business Media LLC.
    Type: Article DOI: 10.1038/s41586-020-2832-5 OpenAlex: https://openalex.org/W3093292403
    Crossref OpenAlex OpenCitations
  142. Henry Wood‐Downie , Bonnie Wong , Hanna Kovshoff , Samuele Cortese , Julie A. Hadwin (2021). Research Review: A systematic review and meta‐analysis of sex/gender differences in social interaction and communication in autistic and nonautistic children and adolescents . Journal of Child Psychology and Psychiatry, 62(8), 922-936. Wiley.
    Type: Article DOI: 10.1111/jcpp.13337 OpenAlex: https://openalex.org/W3095775465
    Crossref OpenAlex OpenCitations
  143. Maarten van ’t Hof , Chanel Tisseur , Ina van Berckelear-Onnes , Annemyn van Nieuwenhuyzen , Amy M Daniels , Mathijs Deen et al. (2021). Age at autism spectrum disorder diagnosis: A systematic review and meta-analysis from 2012 to 2019 . Autism, 25(4), 862-873. SAGE Publications.
    Type: Article DOI: 10.1177/1362361320971107 OpenAlex: https://openalex.org/W3099367322
    Crossref OpenAlex OpenCitations
  144. 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 OpenCitations
  145. 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 OpenCitations
  146. Robert Klitzman , Ekaterina Bezborodko , Wendy K. Chung , Paul S. Appelbaum (2024). Parents' views of benefits and limitations of receiving genetic diagnoses for their offspring . Child: Care, Health and Development, 50(1), e13212. Wiley.
    Type: Article DOI: 10.1111/cch.13212 OpenAlex: https://openalex.org/W4389762138
    Crossref OpenAlex OpenCitations
  147. Polaris Koi (2021). Genetics on the neurodiversity spectrum: Genetic, phenotypic and endophenotypic continua in autism and ADHD . Studies in History and Philosophy of Science Part A, 89, 52-62. Elsevier BV.
    Type: Article DOI: 10.1016/j.shpsa.2021.07.006 OpenAlex: https://openalex.org/W3193261584
    Crossref OpenAlex OpenCitations
  148. Qing Wang , Hua-Yun Li , Yun-Da Li , Ya-Ting Lv , Hui-Bin Ma , An-Feng Xiang et al. (2021). Resting-state abnormalities in functional connectivity of the default mode network in autism spectrum disorder: a meta-analysis . Brain Imaging and Behavior, 15(5), 2583-2592. Springer Science and Business Media LLC.
    Type: Article DOI: 10.1007/s11682-021-00460-5 OpenAlex: https://openalex.org/W3134207911
    Crossref OpenAlex OpenCitations
  150. Charlotte M. Pretzsch , Tim Schäfer , Michael Lombardo , Varun Warrier , Caroline Mann , Anke Bletsch et al. (2022). Neurobiological Correlates of Change in Adaptive Behavior in Autism . American Journal of Psychiatry, 179(5), 336-349. American Psychiatric Association Publishing.
    Type: Article DOI: 10.1176/appi.ajp.21070711 OpenAlex: https://openalex.org/W4221088485
    Crossref OpenAlex OpenCitations
  151. Danyang Li , Nora Choque Olsson , Martin Becker , Abishek Arora , Hong Jiao , Nina Norgren et al. (2022). Rare variants in the outcome of social skills group training for autism . Autism Research, 15(3), 434-446. Wiley.
    Type: Article DOI: 10.1002/aur.2666 OpenAlex: https://openalex.org/W4221104259
    Crossref OpenAlex OpenCitations
  152. Min Li , Yide Wang , Masaya Tachibana , Shafiur Rahman , Kuriko Kagitani‐Shimono (2022). Atypical structural connectivity of language networks in autism spectrum disorder: A meta‐analysis of diffusion tensor imaging studies . Autism Research, 15(9), 1585-1602. Wiley.
    Type: Article DOI: 10.1002/aur.2789 OpenAlex: https://openalex.org/W4291197576
    Crossref OpenAlex OpenCitations
  153. Alice Turnock , Kate Langley , Catherine R.G. Jones (2022). Understanding Stigma in Autism: A Narrative Review and Theoretical Model . Autism in Adulthood, 4(1), 76-91. SAGE Publications.
    Type: Article DOI: 10.1089/aut.2021.0005 OpenAlex: https://openalex.org/W4214570045
    Crossref OpenAlex OpenCitations
  154. Amelle Shillington , Martine Lamy , Kelli C. Dominick , Michael Sorter , Craig A. Erickson , Robert Hopkin (2022). A Collaborative Psychiatric-Genetics Inpatient Care Delivery Model Improves Access to Clinical Genetic Evaluation, Testing, and Diagnosis for Patients With Neurodevelopmental Disorders . Frontiers in Genetics, 13, 901458. Frontiers Media SA.
    Type: Article DOI: 10.3389/fgene.2022.901458 OpenAlex: https://openalex.org/W4282565059
    Crossref OpenAlex OpenCitations
  155. Clara Moreau , Annabelle Harvey , Kuldeep Kumar , Guillaume Huguet , Sebastian G.W. Urchs , Elise A. Douard et al. (2023). Genetic Heterogeneity Shapes Brain Connectivity in Psychiatry . Biological Psychiatry, 93(1), 45-58. Elsevier BV.
    Type: Article DOI: 10.1016/j.biopsych.2022.08.024 OpenAlex: https://openalex.org/W4294168437
    Crossref OpenAlex OpenCitations
  156. Katharine Sanderson (2021). High-profile autism genetics project paused amid backlash . Nature, 598(7879), 17-18. Springer Science and Business Media LLC.
    Type: Article DOI: 10.1038/d41586-021-02602-7 OpenAlex: https://openalex.org/W3203258513
    Crossref OpenAlex OpenCitations
  157. Jente Meijer , Bruno Hebling Vieira , Camille Elleaume , Zofia Baranczuk-Turska , Nicolas Langer , Dorothea L. Floris (2023). Towards Understanding Autism Heterogeneity: Identifying Clinical Subgroups and Neuroanatomical Deviations . medRxiv. openRxiv.
    Type: Prépublication DOI: 10.1101/2023.10.21.23297299 OpenAlex: https://openalex.org/W4387859411
    Crossref OpenAlex
  158. Sarah Catrin Titgemeyer , Christian P Schaaf (2022). Facebook Support Groups for Pediatric Rare Diseases: Cross-Sectional Study to Investigate Opportunities, Limitations, and Privacy Concerns . JMIR Pediatrics and Parenting, 5(1), e31411. JMIR Publications Inc..
    Type: Article DOI: 10.2196/31411 OpenAlex: https://openalex.org/W3205056274
    Crossref OpenAlex OpenCitations
  160. Edmund J.S. Sonuga-Barke , Susie Chandler , Steve Lukito , Myrofora Kakoulidou , Graham Moore , Niki Cooper et al. (2024). Participatory translational science of neurodivergence: model for attention-deficit/hyperactivity disorder and autism research . The British Journal of Psychiatry, 224(4), 127-131. Royal College of Psychiatrists.
    Type: Article DOI: 10.1192/bjp.2023.151 OpenAlex: https://openalex.org/W4391882013
    Crossref OpenAlex OpenCitations
  161. Ana Maria Portugal , Charlotte Viktorsson , Mark Taylor , Luke Mason , Kristiina Tammimies , Angelica Ronald et al. (2022). Infants’ looking preferences for social versus non-social objects reflect genetic variation . Center for Open Science.
    Type: Prépublication DOI: 10.31219/osf.io/fn8y5 OpenAlex: https://openalex.org/W4213045013
    OpenAlex
  162. Nicolas Traut , Katja Heuer , Guillaume Lemaître , Anita Beggiato , David Germanaud , Monique Elmaleh et al. (2022). Insights from an autism imaging biomarker challenge: Promises and threats to biomarker discovery . NeuroImage, 255, 119171. Elsevier BV.
    Type: Article DOI: 10.1016/j.neuroimage.2022.119171 OpenAlex: https://openalex.org/W4226015794
    Crossref OpenAlex OpenCitations
  163. Brett Trost , Bhooma Thiruvahindrapuram , Ada J.S. Chan , Worrawat Engchuan , Edward J. Higginbotham , Jennifer L. Howe et al. (2022). Genomic architecture of autism from comprehensive whole-genome sequence annotation . Cell, 185(23), 4409-4427.e18. Elsevier BV.
    Type: Article DOI: 10.1016/j.cell.2022.10.009 OpenAlex: https://openalex.org/W4308906825
    Crossref OpenAlex OpenCitations
  164. Varun Warrier , Xinhe Zhang , Patrick Reed , Alexandra Havdahl , Tyler M. Moore , Freddy Cliquet et al. (2022). Genetic correlates of phenotypic heterogeneity in autism . Nature Genetics, 54(9), 1293-1304. Springer Science and Business Media LLC.
    Type: Article DOI: 10.1038/s41588-022-01072-5 OpenAlex: https://openalex.org/W4281618351
    Crossref OpenAlex OpenCitations
  165. (2024). Infants’ looking preferences for social versus non-social objects reflect genetic variation . Nat. Hum. Behav., 8(1), 115.
    Type: Autre
    Crossref
  166. Thomas Rolland , Freddy Cliquet , Richard J. L. Anney , Clara Moreau , Nicolas Traut , Alexandre Mathieu et al. (2023). Phenotypic effects of genetic variants associated with autism . Nature Medicine, 29(7), 1671-1680. Springer Science and Business Media LLC.
    Type: Article DOI: 10.1038/s41591-023-02408-2 OpenAlex: https://openalex.org/W4382139278
    Crossref OpenAlex OpenCitations
  167. Alexander C Wilson , Stef Gunn (2023). What parents want in an autism diagnostic report: An interview-based study of parents accessing a neurodevelopmental assessment service . Clinical Child Psychology and Psychiatry, 28(3), 937-951. SAGE Publications.
    Type: Article DOI: 10.1177/13591045221138703 OpenAlex: https://openalex.org/W4308952604
    Crossref OpenAlex OpenCitations
  168. Xueya Zhou , Pamela Feliciano , Chang Shu , Tianyun Wang , Irina Astrovskaya , Jacob B. Hall et al. (2022). Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes . Nature Genetics, 54(9), 1305-1319. Springer Science and Business Media LLC.
    Type: Article DOI: 10.1038/s41588-022-01148-2 OpenAlex: https://openalex.org/W4293068416
    Crossref OpenAlex OpenCitations
  169. Conny M.A. van Ravenswaaij-Arts , Ingrid D.C. van Balkom , Sarah Jesse , Maria C. Bonaglia (2023). Editorial: Towards a European consensus guideline for Phelan-McDermid syndrome . European Journal of Medical Genetics, 66(5), 104736. Elsevier BV.
    Type: Article DOI: 10.1016/j.ejmg.2023.104736 OpenAlex: https://openalex.org/W4323817085
    Crossref OpenAlex OpenCitations
  170. Cindy Wen , Michael Margolis , Rujia Dai , Pan Zhang , Pawel F Przytycki , Daniel D Vo et al. (2023). Cross-ancestry, cell-type-informed atlas of gene, isoform, and splicing regulation in the developing human brain . medRxiv. openRxiv.
    Type: Prépublication DOI: 10.1101/2023.03.03.23286706 OpenAlex: https://openalex.org/W4323537255
    Crossref OpenAlex