Research Publications


Yuen RKC, Merico D, Cao H, Pellecchia G, Alipanahi B, Thiruvahindrapuram B, Tong X, Sun Y, Cao D, Zhang T, Wu X, Jin X, Zhou Z, Liu X, Nalpathamkalam T, Walker S, Howe JL, Wang Z, MacDonald JR, Chan AJS, D’Abate L, Deneault E, Siu MT, Tammimies K, Uddin M, Zarrei M, Wang M, Li Y, Wang J, Wang J, Yang H, Bookman M, Bingham J, Gross SS, Loy D, Pletcher M, Marshall CR, Anagnostou E, Zwaigenbaum L, Weksberg R, Fernandez BA, Roberts W, Szatmari P, Glazer D, Frey BJ, Ring RH, Xu X, & Scherer SW (2016). Genome-wide characteristics of de novo mutations in autism. NPJ genomic medicine1, 16027. [Go to article]

Yuen RK, Thiruvahindrapuram B, Merico D, Walker S, Tammimies K, Hoang N, Chrysler C, Nalpathamkalam T, Pellecchia G, Liu Y, Gazzellone MJ, D’Abate L, Deneault E, Howe JL, Liu RS, Thompson A, Zarrei M, Uddin M, Marshall CR, Ring RH, Zwaigenbaum L, Ray PN, Weksberg R, Carter MT, Fernandez BA, Roberts W, Szatmari P, & Scherer SW (2015). Whole-genome sequencing of quartet families with autism spectrum disorder. Nature medicine21(2), 185-191. [Go to abstract]

Hoang, N., Buchanan, J. A., & Scherer, S. W. (2018). Heterogeneity in clinical sequencing tests marketed for autism spectrum disorders. NPJ genomic medicine, 3(1), 27. [Go to article]

Uddin M, Unda BK, Kwan V, Holzapfel NT, White SH, Chalil L, Woodbury-Smith M, Ho KS, Harward E, Murtaza N, Dave B, Pellecchia G, D’Abate L, Nalpathamkalam T, Lamoureux S, Wei J, Speevak M, Stavropoulos J, Hope KJ, Doble BW, Nielsen J, Wassman ER, Scherer SW, Singh KK (2018). OTUD7A regulates neurodevelopmental phenotypes in the 15q13. 3 microdeletion syndrome. The American Journal of Human Genetics, 102(2), 278-295. [Go to article]

Trost B, Walker S, Wang Z, Thiruvahindrapuram B, MacDonald JR, Sung WWL, Pereira SL, Whitney J, Chan AJS, Pellecchia G, Reuter MS, Lok S, Yuen RKC, Marshall CR, Merico D and *Scherer SW. (2018). A comprehensive workflow for read depth-based identification of copy-number variation from whole-genome sequence data.

Deneault E, White SH, Rodrigues DC, Ross PJ, Faheem M, Zaslavsky K, Wang Z, Alexandrova R, Pellecchia G, Wei W, Piekna A, Kaur G, Howe JL, Kwan V, Thiruvahindrapuram B, Walker S, Lionel AC, Pasceri P, Merico D, Yuen RKC, *Singh KK, *Ellis J, *Scherer SW. (2018). Complete disruption of Autism-susceptibility genes by gene editing predominantly reduces functional connectivity of isogenic human neurons. Stem Cell Reports 11,1211-1225. [PMID:30392976]

Chan AJS, Cytrynbaum C, Hoang N, Ambrozewicz PM, Weksberg R, Drmic I, Ritzema A, Schachar R, Walker S, Uddin M, Zarrei M, Yuen RKC and *Scherer SW. (2019). Expanding the neurodevelopmental phenotypes of individuals with de novo KMT2A variants. npj Genomic Medicine 4 [Epub ahead of print Apr 26]. [PMID:31044088]

D’Abate L, Walker S, Yuen RKC, Tammimies K, Buchanan JA, Davies RW, Thiruvahindrapuram B, Wei J, Brian J, Bryson SE, Dobkins K, Howe J, Landa R, Leef J, Messinger D, Ozonoff S, Smith IM, Stone WL, Warren ZE, Young G, Zwaigenbaum L, and Scherer SW. (2019). Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders. Nature Communications 10, 5519. [PMID: 31801954]

Zarrei M, Burton CL, Engchuan W, Young EJ, Higginbotham EJ, MacDonald JR, Trost B, Chan AJS, Walker S, Lamoureux S, Heung T, Mojarad BA, Kellam B, Paton T, Faheem M, Miron K, Lu C, Wang T, Samler K, Wang X, Costain G, Hoang N, Pellecchia G, Wei J, Patel RV, Thiruvahindrapuram B, Roifman M, Merico D, Goodale T, Drmic I, Speevak M, Howe JL, Yuen RKC, Buchanan JA, Vorstman JAS, Marshall CR, Wintle RF, Rosenberg DR, Hanna GL, Woodbury-Smith M, Cytrynbaum C, Zwaigenbaum L, Elsabbagh M, Flanagan J, Fernandez BA, Carter MT, Szatmari P, Roberts W, Lerch J, Liu X, Nicolson R, Georgiades S, Weksberg R, Arnold PD, Bassett AS, Crosbie J, Schachar R, Stavropoulos DJ, Anagnostou E, Scherer SW. A large data resource of genomic copy number variation across neurodevelopmental disorders. NPJ Genom Med. 2019 Oct 7;4:26. doi: 10.1038/s41525-019-0098-3. eCollection 2019.PMID: 31602316

Woodbury‐Smith, M., Zarrei, M., Wei, J., Thiruvahindrapuram, B., O’Connor, I., Paterson, A.D., Yuen, R.K., Dastan, J., Stavropoulos, D.J., Howe, J.L. and Thompson, A., 2020. Segregating patterns of copy number variations in extended autism spectrum disorder (ASD) pedigrees. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. [Link to article]

Trost B, Engchuan W, Nguyen CM, Thiruvahindrapuram B, Dolzhenko E, Backstrom I, Mirceta M, Mojarad BA, Yin Y, Dov A, Chandrakumar I, Prasolava T, Shum N, Hamdan O, Pellecchia G, Howe JL, Whitney J, Klee EW, Baheti S, Amaral DG, Anagnostou E, Elsabbagh M, Fernandez BA, Hoang N, Lewis MES, Liu X, Sjaarda C, Smith IM, Szatmari P, Zwaigenbaum L, Glazer D, Hartley D, Stewart AK, Eberle MA, Sato N, Pearson CE, Scherer SW, Yuen RKC. Genome-wide detection of tandem DNA repeats that are expanded in autism.  2020 Oct;586(7827):80-86. doi: 10.1038/s41586-020-2579-z. Epub 2020 Jul 27.PMID: 32717741


Jachyra, P., Anagnostou, E., Knibbe, T. J., Petta, C., Cosgrove, S., Chen, L., Capano, L., Moltisanti, L., & McPherson, A. C. (2018). Weighty conversations: Caregivers’, children’s, and clinicians’ perspectives and experiences of discussing weight‐related topics in healthcare consultations. Autism Research, 11(11), 1500-1510. [Go to abstract]

Mahendiran, T., Dupuis, A., Crosbie, J., Georgiades, S., Kelley, E., Liu, X., … & Brian, J. (2019). Sex Differences in Social Adaptive Function in Autism Spectrum Disorder and Attention-Deficit Hyperactivity Disorder. Frontiers in psychiatry10, 607. [Go to article]

Mahendiran, T., Brian, J., Dupuis, A., Muhe, N., Wong, P.Y., Iaboni, A. and Anagnostou, E., 2019. A Systematic Review on Sex Differences in Social and Communication Abilities in Neurodevelopmental Disorders. Frontiers in Psychiatry10, p.804. [Link to article]

McDonnell, C. G., DeLucia, E. A., Hayden, E. P., Anagnostou, E., Nicolson, R., Kelley, E., … & Stevenson, R. A. (2019). An exploratory analysis of predictors of youth suicide-related behaviors in autism spectrum disorder: implications for prevention science. Journal of autism and developmental disorders, 1-14. [Go to abstract]

Mahendiran, T., Brian, J., Dupuis, A., Crosbie, J., Schchar, R., Nicolson, R., Georgiades, S., Anagnostou, E. (2019).  Sex Differences in Social-Communication Function in Autism Spectrum Disorder and Attention Deficit Hyperactivity Disorder.  Frontiers in Psychiatry. Sep 12;10:607

Jacobs, G., Voineskos, A., Forde, N., Dickie, E., Lai, M.C., Szatmari, P., Schachar, R., Crosbie, J., Arnold, P., Taylor, M.J. Goldenberg, A., and S Ameis. 2019. O43. Novel Brain-Behaviour Similarity Subgroups Across Neurodevelopmental Disorders. Biological Psychiatry85(10), pp.S123-S124. [Link to article]

McDonnell, C.G., DeLucia, E.A., Hayden, E.P., Penner, M., Curcin, K., Anagnostou, E., Nicolson, R., Kelley, E., Georgiades, S., Liu, X. and Stevenson, R.A., 2020. Sex Differences in Age of Diagnosis and First Concern among Children with Autism Spectrum Disorder. Journal of Clinical Child & Adolescent Psychology, pp.1-11. [link to article]

Assi, A., 2020. Internalizing and Externalizing Problems in Children with ASD, ADHD, and OCD: Identifying Behavioural Profiles Within and Across Diagnostic Categories (Doctoral dissertation). [Link to paper]

Krakowski, A.D., Cost, K.T., Anagnostou, E., Lai, M.C., Crosbie, J., Schachar, R., Georgiades, S., Duku, E. and Szatmari, P., 2020. Inattention and hyperactive/impulsive component scores do not differentiate between autism spectrum disorder and attention-deficit/hyperactivity disorder in a clinical sample. Molecular Autism11(1), pp.1-13. [Link to article]

Brierley, N.J., McDonnell, C.G., Parks, K.M., Schulz, S.E., Dalal, T.C., Kelley, E., Anagnostou, E., Nicolson, R., Georgiades, S., Crosbie, J. and Schachar, R., 2020. Factor Structure of Repetitive Behaviors Across Autism Spectrum Disorder and Attention-Deficit/Hyperactivity Disorder. Journal of Autism and Developmental Disorders, pp.1-10. [Link to article]

Dupuis, A., Moon, M.J., Brian, J., Georgiades, S., Levy, T., Anagnostou, E., Nicolson, R., Schachar, R. and Crosbie, J., 2020. Concurrent Validity of the ABAS-II Questionnaire with the Vineland II Interview for Adaptive Behavior in a Pediatric ASD Sample: High Correspondence Despite Systematically Lower Scores. Journal of Autism and Developmental Disorders, pp.1-11. [Link to article]

Peña, M., Ng, Y., Ripat, J. and Anagnostou, E., 2020. Brief Report: Parent Perspectives on Sensory-Based Interventions for Children with Autism Spectrum Disorder. Journal of Autism and Developmental Disorders, pp.1-6. [Link to brief report]

Brooks, J.D., Bronskill, S.E., Fu, L., Saxena, F.E., Arneja, J., Pinzaru, V.B., Anagnostou, E., Nylen, K., McLaughlin, J. and Tu, K., 2020. Identifying Children and Youth With Autism Spectrum Disorder in Electronic Medical Records: Examining Health System Utilization and Comorbidities. Autism Research. [Link to article]


Choufani S, Cytrynbaum C, Chung BHY, Turinsky AL, Grafodatskaya D, Chen YA, Cohen ASA, Dupuis L, Butcher DT, Siu MT, Luk HM, Lo IFM, Lam STS, Caluseriu O, Stavropoulos DJ, Reardon W, Mendoza-Londono R, Brudno M, Gibson WT, Chitayat D, & Weksberg R (2015). NSD1 mutations generate a genome-wide DNA methylation signature. Nature communications6, 10207. [Go to article]

Fairbrother LC, Cytrynbaum C, Boutis P, Buiting K, Rosanna Weksberg, & Williams C (2015). Mild Angelman syndrome phenotype due to a mosaic methylation imprinting defect. American Journal of Medical Genetics Part A167(7), 1565-1569. [Go to abstract]

Melamed N, Choufani S, Wilkins-Haug LE, Koren G, & Weksberg R (2015). Comparison of genome-wide and gene-specific DNA methylation between ART and naturally conceived pregnancies. Epigenetics10(6), 474-483. [Go to article]

Shugar AL, Shapiro JM, Cytrynbaum C, Hedges S, Weksberg R, & Fishman L (2015). An increased prevalence of thyroid disease in children with 22q11.2 deletion syndrome.  American Journal of Medical Genetics Part A167(7), 1560-1564. [Go to abstract]

Strong E, Butcher DT, Singhania R, Mervis CB, Morris CA, De Carvalho D, Weksberg R, & Osborne LR (2015). Symmetrical dose-dependent DNA methylation profiles in children with deletion or duplication of chromosome 7q11.23. The American Journal of Human Genetics97(2), 216-227. [Go to article]

Butcher DT, Cytrynbaum C, Turinsky AL, Siu MT, Inbar-Feigenberg M, Mendoza-Londono R, Chitayat D, Walker S, Machado J, Caluseriu O, Dupuis L, Grafodatskaya D, Reardon W, Gilbert-Dussardier B, Verloes A, Bilan F, Milunsky JM, Basran R, Papsin B, Stockley TL, Scherer SW, Choufani S, Brudno M, & Weksberg R (2017). CHARGE and Kabuki syndromes: gene-specific DNA methylation signatures identify epigenetic mechanisms linking these clinically overlapping conditions. The American Journal of Human Genetics100(5), 773-788. [Go to article]

Chater-Diehl, E., Ejaz, R., Cytrynbaum, C., Siu, M. T., Turinsky, A., Choufani, S., … & Engleman, K. (2019). New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome. BMC medical genomics12(1), 105.

Siu MT, Butcher DT, Turinsky AL, Cytrynbaum C, Stavropoulos DJ, Walker S, Caluseriu O, Carter M, Lou Y, Nicolson R, Georgiades S, Szatmari P, Anagnostou E, Scherer SW, Choufani S, Brudno M, and  Weksberg R. (2019). Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants. Clinical Epigenetics 11, 103. [PMID: 31311581]

Goodman, S.J., Burton, C.L., Butcher, D.T., Siu, M.T., Lemire, M., Chater-Diehl, E., Turinsky, A.L., Brudno, M., Soreni, N., Rosenberg, D. and Fitzgerald, K.D., (2020). Obsessive-compulsive disorder and attention-deficit/hyperactivity disorder: distinct associations with DNA methylation and genetic variation. Journal of neurodevelopmental disorders12(1), pp.1-15. [Link to article]

Goodman, S.J., Cytrynbaum, C., Chung, B.H.Y., Chater-Diehl, E., Aziz, C., Turinsky, A.L., Kellam, B., Keller, M., Ko, J.M., Caluseriu, O. and Grafodatskaya, D., (2020). EHMT1 pathogenic variants and 9q34. 3 microdeletions share altered DNA methylation patterns in patients with Kleefstra syndrome. Journal of Translational Genetics and Genomics4(3), pp.144-158. [Link to article]


Kushki A, Brian J, Dupuis A, & Anagnostou E (2014). Functional Autonomic Nervous System Profile in Children with autism spectrum disorder. Molecular Autism5(1), 39. [Go to abstract]

Friedel M, van Eede MC, Pipitone J, Chakravarty MM, & Lerch JP (2014). Pydpiper: a flexible toolkit for constructing novel registration pipelines. Frontiers in neuroinformatics8, 67. [Go to article]

Sussman D, Leung RC, Vogan VM, Lee W, Trelle S, Lin SY, Cassel DB, Chakravarty MM, Lerch JP, Anagnostou E, Taylor MJ (2015). The Autism Puzzle: Diffuse but not pervasive neuroanatomical features in children with ASD. NeuroImage: Clinical8, 170-179. [Go to article]

Saghir H, Chau T, & Kushki A (2016). Clustering of time-evolving scaling dynamics in a complex signal. Physical Review E94(1), 012220. [Go to abstract]

Chiu T, Anagnostou E, Brian J, Chau T, Kushki A. (2015). Specificity of Autonomic Arousal to Anxiety in Children with Autism Spectrum Disorder. Autism Research9(4), 491-501. [Go to abstract]Kushki A, Khan A, Brian J, & Anagnostou E (2015). A Kalman filtering framework for physiological detection of anxiety-related arousal in children with autism spectrum disorder. IEEE Transactions on Biomedical Engineering62(3), 990-1000. [Go to abstract]

Panju S, Brian J, Anagnostou E, & Kushki A (2015). Atypical Sympathetic Arousal in Children with Autism Spectrum Disorder and its Association with Anxiety Symptomatology. Molecular autism6(1), 64. [Go to article]

Ameis SH, Lerch JP, Taylor MJ, Lee W, Viviano J, Pipitone J, Nazeri A, Croarkin P, Voineskos A, Lai M-C, Crosbie J, Brian J, Soreni N, Schachar R, Szatmari P, Arnold PD, Anagnostou E (2016). A diffusion tensor imaging study in children with ADHD, ASD, OCD and matched controls: Distinct and non-distinct white matter disruption and dimensional brain-behavior relationships. American Journal of Psychiatry, 173(12), 1213-1222. [Go to article]

Pang EW, Valica T, MacDonald M, Taylor MJ, Brian J, Lerch JP, & Anagnostou E (2016). Abnormal brain dynamics underlie speech production in children with autism spectrum disorder. Autism Research9(2), 249-261. [Go to article]

Baribeau DA, Dupuis A, Paton TA, Scherer SW, Schachar RJ, Arnold PD, Szatmari P, Nicolson R, Georgiades S, Crosbie J, Brian J, Iaboni A, Lerch J & Anagnostou E (2017). Oxytocin receptor polymorphisms are differentially associated with social abilities across neurodevelopmental disorders. Scientific reports7(1), 11618. [Go to POND research summary] [Go to article]

van Rooij D, Anagnostou E, Arango C, Auzias G, Behrmann M, Busatto GF, Calderoni S, Daly E, Deruelle C, Di Martino A, Dinstein I, Duran FLS, Durston S, Ecker C, Fair D, Fedor J, Fitzgerald J, Freitag CM, Gallagher L, Gori I, Haar S, Hoekstra L, Jahanshad N, Jalbrzikowski M, Janssen J, Lerch J, Luna B, Martinho MM, McGrath J, Muratori F, Murphy CM, Murphy DGM, O’Hearn K, Oranje B, Parellada M, Retico A, Rossa P, Rubia K, Shook D, Taylor M, Thompson PM, Tosetti M, Wallace GL, Zhou F, Buitelaar JK. Cortical and Subcortical Brain Morphometry Differences Between Patients With Autism Spectrum Disorder and Healthy Individuals Across the Lifespan: Results From the ENIGMA ASD Working Group. Am J Psychiatry. 2017 Nov 17;appiajp201717010100.

Saghir H, Dupuis A, Chau T, & Kushki A (2017). Atypical autonomic nervous system complexity accompanies social cognition task performance in ASD. Research in Autism Spectrum Disorders39, 54-62. [Go to abstract]

Mogadam A, Keller AE, Taylor MJ, Lerch JP, Anagnostou E, Pang EW. Mental flexibility: An MEG investigation in typically developing children. Brain Cogn [Internet]. 2017 Oct 20; Available from:

Sarabadani S, Schudlo LC, Samadani AA, & Kushki A (2018). Physiological Detection of Affective States in Children with Autism Spectrum Disorder. IEEE Transactions on Affective Computing. [Go to abstract]

Mogadam A, Keller AE, Taylor MJ, Lerch JP, Anagnostou E, & Pang EW (2018). Mental flexibility: An MEG investigation in typically developing children. Brain and cognition120, 58-66. [Go to article]

Freitas, C., Manzato, E., Burini, A., Taylor, M. J., Lerch, J., & Anagnostou, E. (2018). Neural correlates of familiarity in music listening: A systematic review and a neuroimaging meta-analysis. Frontiers in neuroscience12, 686. [Go to article]

Freitas C, Manzato E, Burini A, Taylor MJ, Lerch JP, Anagnostou E. Neural Correlates of Familiarity in Music Listening: A Systematic Review and a Neuroimaging Meta-Analysis. Front Neurosci. 2018 Oct 5;12:686.

Mogadam, A., Keller, A. E., Arnold, P. D., Schachar, R., Lerch, J. P., Anagnostou, E., & Pang, E. W. (2019). Magnetoencephalographic (MEG) brain activity during a mental flexibility task suggests some shared neurobiology in children with neurodevelopmental disorders. Journal of neurodevelopmental disorders11(1), 1-12. [Go to article]

Boedhoe, P. S., van Rooij, D., Hoogman, M., Thompson, P. M., Stein, D. J., Buitelaar, J. K., … & ENIGMA-OCD working group. (2019). Subcortical brain volume, regional cortical thickness and cortical surface area across attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD), and obsessive-compulsive disorder (OCD): findings from the ENIGMA-ADHD,-ASD, and-OCD working groups. biorxiv, 673012.[Go to abstract]

Mogadam A, Keller AE, Arnold PD, Schachar R, Lerch JP, Anagnostou E, Pang EW. Magnetoencephalographic (MEG) brain activity during a mental flexibility task suggests some shared neurobiology in children with neurodevelopmental disorders. J Neurodev Disord. 2019 Aug 19;11(1):19.

Bedford SA, Park MTM, Devenyi GA, Tullo S, Germann J, Patel R, Anagnostou E, Baron-Cohen S, Bullmore ET, Chura LR, Craig MC, Ecker C, Floris DL, Holt RJ, Lenroot R, Lerch JP, Lombardo MV, Murphy DGM, Raznahan A, Ruigrok ANV, Smith E, Spencer MD, Suckling J, Taylor MJ, Thurm A, MRC AIMS Consortium, Lai M-C, Chakravarty MM. Large-scale analyses of the relationship between sex, age and intelligence quotient heterogeneity and cortical morphometry in autism spectrum disorder. Mol Psychiatry [Internet]. 2019 Apr 26; Available from:

Vandewouw M.M, Choi EJ, Hammill C, Arnold PD, Schachar R, Lerch JP, Anagnostou E, Taylor MJ.-Emotional face processing across neurodevelopmental disorders: A dynamic faces study in children with autism spectrum disorder, attention deficit hyperactivity disorder and obsessive compulsive disorder.  Submitted to Molecular Autism, Dec. 2019

Baribeau, D. A., Dupuis, A., Paton, T. A., Hammill, C., Scherer, S. W., Schachar, R. J. Arnold PD, Szatmari P, Nicolson R, Georgiades S, Crosbie J, Brian J, Iaboni A, Kushki A, Lerch JP, Anagnostou E. (2019). Structural neuroimaging correlates of social deficits are similar in autism spectrum disorder and attention-deficit/hyperactivity disorder: analysis from the POND Network. Translational Psychiatry, 9(1), 72. 

Danielle A. Baribeau, Annie Dupuis, Tara A. Paton, Christopher Hammill, Stephen W. Scherer, Russell J. Schachar, Paul D. Arnold, Peter Szatmari, Rob Nicolson, Stelios Georgiades, Jennifer Crosbie, Jessica Brian, Alana Iaboni, Azadeh Kushki, Jason P. Lerch & Evdokia Anagnostou. (2019). Structural neuroimaging correlates of social deficits are similar in autism spectrum disorder and attention-deficit/hyperactivity disorder: analysis from the POND Network. Translational psychiatry9(1), 72. [Go to article]

Choi EJ, Vandewouw MM, Taylor MJ, Arnold P, Brian J, Crosbie J, Kelley E, Liu X, Schachar R, Lai MC, Lerch JP, Anagnostou E.  Beyond diagnosis: shared brain intrinsic functional connectivity in neurodevelopmental disorders.  Submitted to JAACP dec. 2019.

Hammill C, Lerch JP, Taylor MJ, Ameis SHM, Chakravarty M, Szatmari P, Anagnostou E, Lai -C.  Quantitative and qualitative sex-modulations in the brain anatomy of autism.  Submitted to Biological Psychiatry, Nov. 14th, 2019.

Kushki, A., Anagnostou, E., Hammill, C., Duez, P., Brian, J., Iaboni, A., Schachar, R., Crosbie, J., Arnold, P. and Lerch, J.P., 2019. Examining overlap and homogeneity in ASD, ADHD, and OCD: a data-driven, diagnosis-agnostic approach. Translational psychiatry9(1), pp.1-11. [Go to article]

Baribeau DA, Dupuis A, Paton TA, Hammill C, Scherer SW, Schachar RJ, Arnold PD, Szatmari P, Nicolson R, Georgiades S, Crosbie J, Brian J, Iaboni A, Kushki A, Lerch JP, and Anagnostou E. (2019). Structural neuroimaging correlates of social deficits are similar in autism spectrum disorder and attention-deficit/hyperactivity disorder: analysis from the POND Network. Translational Psychiatry 9,72. [PMID: 30718456]

Choi EJ, Vandewouw MM, Taylor MJ, Arnold PD, Brian J, Crosbie J, Kelley E, Lai MC, Liu X, Schachar RJ, Lerch JP, Anagnostou E. Beyond diagnosis: Cross-diagnostic features in canonical resting-state networks in children with neurodevelopmental disorders. Neuroimage Clin. 2020 Oct 27;28:102476. doi: 10.1016/j.nicl.2020.102476. PMID: 33201803Bedford SA, Park MTM, Devenyi GA, Tullo S, Germann J, Patel R, Anagnostou E, Baron-Cohen S, Bullmore ET, Chura LR, Craig MC, Ecker C, Floris DL, Holt RJ, Lenroot R, Lerch JP, Lombardo MV, Murphy DGM, Raznahan A, Ruigrok ANV, Smith E, Spencer MD, Suckling J, Taylor MJ, Thurm A; MRC AIMS Consortium, Lai MC, Chakravarty MM. Large-scale analyses of the relationship between sex, age and intelligence quotient heterogeneity and cortical morphometry in autism spectrum disorder. Mol Psychiatry. 2020 Mar;25(3):614-628. doi: 10.1038/s41380-019-0420-6. Epub 2019 Apr 26.PMID: 31028290

Sanjeevan, T., Hammill, C., Brian, J., Crosbie, J., Schachar, R., Kelley, E., Liu, X., Nicolson, R., Iaboni, A., Day Fragiadakis, S., Ristic, L.& Anagnostou, E. (2020). Exploring the Neural Structures Underlying the Procedural Memory Network as Predictors of Language Ability in Children and Adolescents With Autism Spectrum Disorder and Attention Deficit Hyperactivity Disorder. Frontiers in Human Neuroscience14, 546. [Link to article]

de Oliveira, L.R., Brian, J., Kelley, E., Beal, D., Nicolson, R., Georgiades, S., Iaboni, A., Fragiadakis, S.D., Ristic, L., Anagnostou, E. and Sanjeevan, T., 2020. Exploring the use of the verbal intelligence quotient as a proxy for language ability in autism spectrum disorder. Research in Autism Spectrum Disorders73, p.101548. [Link to article]

Nakua, H., Hawco, C., Forde, N., Jacobs, G., Joseph, M., Voineskos, A., Wheeler, A., Lai, M.C., Stazmari, P., Schachar, R. and Taylor, M.J., 2020. The Relationship Between Externalizing and Internalizing Behaviour and the Cortico-Amygdalar Network in Children With Neurodevelopmental Disorders: A Multi-Modal Dimensional Study. Biological Psychiatry87(9), p.S452. [Link to article]

Vandewouw, M.M., Choi, E., Hammill, C., Arnold, P., Schachar, R., Lerch, J.P., Anagnostou, E. and Taylor, M.J., 2020. Emotional face processing across neurodevelopmental disorders: a dynamic faces study in children with autism spectrum disorder, attention deficit hyperactivity disorder and obsessive-compulsive disorder. Translational psychiatry10(1), pp.1-12. [Link to article]

Tremblay, L.K., Hammill, C., Ameis, S.H., Bhaijiwala, M., Mabbott, D.J., Anagnostou, E., Lerch, J.P. and Schachar, R.J., 2020. Tracking Inhibitory Control in Youth With ADHD: A Multi-Modal Neuroimaging Approach. Frontiers in Psychiatry11. [Link to article]c

Bletsch, A., Schäfer, T., Mann, C., Andrews, D.S., Daly, E., Gudbrandsen, M., Ruigrok, A.N., Dallyn, R., Romero‐Garcia, R., Lai, M.C. and Lombardo, M.V., 2020. Atypical measures of diffusion at the gray‐white matter boundary in autism spectrum disorder in adulthood. Human Brain Mapping. [Link to article]

Vandewouw, M.M., Dunkley, B.T., Lerch, J.P., Anagnostou, E. and Taylor, M.J., 2020. Characterizing Inscapes and resting-state in MEG: Effects in typical and atypical development. NeuroImage225, p.117524. [Link to article]

Hawco, C., Yoganathan, L., Voineskos, A.N., Lyon, R., Tan, T., Daskalakis, Z.J., Blumberger, D.M., Croarkin, P.E., Lai, M.C., Szatmari, P. and Ameis, S.H., 2020. Greater Individual Variability in Functional Brain Activity during Working Memory Performance in young people with Autism and Executive Function Impairment. NeuroImage: Clinical, p.102260. [Link to article]

Vandewouw, M.M., Choi, E.J., Hammill, C., Lerch, J.P., Anagnostou, E. and Taylor, M.J., 2020. Changing Faces: Dynamic Emotional Face Processing in Autism Spectrum Disorder Across Childhood and Adulthood. Biological Psychiatry: Cognitive Neuroscience and Neuroimaging. [Link to article]

Hoogman, M., Van Rooij, D., Klein, M., Boedhoe, P., Ilioska, I., Li, T., Patel, Y., Postema, M.C., Zhang‐James, Y., Anagnostou, E. and Arango, C., 2020. Consortium neuroscience of attention deficit/hyperactivity disorder and autism spectrum disorder: The ENIGMA adventure. Human Brain Mapping. [Link to article]

Bertelsen, N., Landi, I., Bethlehem, R.A., Seidlitz, J., Busuoli, E.M., Mandelli, V., Satta, E., Trakoshis, S., Auyeung, B., Kundu, P. and Loth, E., 2020. Differential functional neural circuitry behind autism subtypes with marked imbalance between social-communicative and restricted repetitive behavior symptom domains. bioRxiv. [Link to article]

Jacobs, G.R., Voineskos, A.N., Hawco, C., Stefanik, L., Forde, N.J., Dickie, E., Lai, M.C., Szatmari, P., Schachar, R.J., Crosbie, J. Arnold, P., and S Ameis  2020. Integration of Brain and Behavior Measures for Identification of Data-Driven Groups Cutting Across Children with ASD, ADHD, or OCD. BioRxiv. [Link to article]

Kushki A., Cardy R., Panahandeh S., Malihi M., Hammill C., Brian J., Iaboni A., Taylor M., Schachar R., Crosbie J., Arnold P., Kelley E., Ayub M., Nicolson R., Georgiades S., Lerch J., Anagnostou E. Cross-Diagnosis structural correlates of Autistic-like social communication differences, Cerebral Cortex (in press), 2021. First Author.


Luna RA & Foster JA (2015). Gut-brain axis: Diet microbiota interactions and implications for modulation of anxiety and depression. Current opinion in biotechnology32, 35-41. [Go to abstract]

Zhou L, & Foster JA (2015). Psychobiotics and the gut-brain axis: in the pursuit of happiness. Neuropsychiatric disease and treatment11, 715. [Go to article]

Kelly, E., Meng, F., Fujita, H., Morgado, F., Kazemi, Y., Rice, L. C., Ren, C., Escamilla, C. O., Gibson, J. M., Sajadi, S., Pendry, R. J., Tan, T., Ellegood, J., Albert Basson, M., Blakely, R. D., Dindot, S. V., Golzio, C., Hahn, M. K., Katsanis, N., … Tsai, P. T. (2020). Regulation of autism-relevant behaviors by cerebellar-prefrontal cortical circuits. Nature Neuroscience. [Link to article]

Bharwani A, Mian MF, Foster JA, Surrette MG, Bienenstock J, & Forsythe P (2016). Structural & functional consequences of chronic psychosocial stress on the microbiome & host. Psychoneuroendocrinology, 63, 217-227. [Go to abstract]

Foster JA, Lyte M, Meyer E, & Cryan JF (2016). Gut microbiota and brain function: an evolving field in neuroscience. International Journal of Neuropsychopharmacology19(5). [Go to article]

Foster JA, Bienenstock J, Forsythe P, & Kunze WA (2017). Lactobacillus rhamnosus strain JB-1 reverses restraint stress-induced gut dysmotility. Neurogastroenterology & Motility29(1). [Go to abstract]

West C, Wu RY, Wong A, Stanisz AM, Yan R, Min KK, Pasyk M, McVey Neufeld KA, Karamat MI, Foster JA (2017). Targeting the microbiome for mental health: Hype or hope? Biol Psych: 82:456-457. [Go to abstract]

Mouse and Cell Models


Horev G, Ellegood J, Lerch JP, Son YE, Muthuswamy L, Vogel H, Krieger AM, Buja A, Henkelman RM, Wigler M, Mills AA (2011). Dosage-dependent phenotypes in models of 16p11.2 lesions found in autism. Proceedings of the National Academy of Sciences108(41), 17076-17081. [Go to article]

Ellegood J, Lerch JP, Henkelman RM (2011). Brain abnormalities in a Neuroligin3 R451C knockin mouse model associated with autism. Autism Research4(5), 368-376. [Go to abstract]

Ellegood J, Henkelman RM, Lerch JP (2012). Neuroanatomical Assessment of the Integrin β3 Mouse Model Related to Autism and the Serotonin System Using High Resolution MRI. Frontiers in psychiatry3, 37. [Go to article]

Ellegood J, Babineau BA, Henkelman RM, Lerch JP, Crawley JN (2013). Neuroanatomical analysis of the BTBR mouse model of autism using magnetic resonance imaging and diffusion tensor imaging. Neuroimage70, 288-300. [Go to abstract]

Ellegood J, Markx S, Lerch JP, Steadman PE, Genç C, Provenzano F, Kushner SA, Henkelman RM, Karayiorgou M, Gogos JA (2014). Neuroanatomical phenotypes in a mouse model of the 22q11.2 microdeletion. Molecular psychiatry19(1), 99. [Go to abstract]

Rilett, KC, & Foster JA (2014). T Lymphocytes and Anxiety: A Review of Clinical and Animal Studies. Ann Depress Anxiety1(7), 1034. [Go to article]

Lai JKY, Sobala-Drozdowski M, L. Zhou, Doering LC, Faure PA, & Foster JA (2013). Temporal and spectral differences in ultrasonic vocalization in fmr1-/- mice during postnatal development. Behavioural brain research259, 119-130. [Go to abstract]

Portmann T, Yang M, Mao R, Panagiotakos G, Ellegood J, Dolen G, Bader PL, Grueter BA, Goold C, Fisher E, Clifford K, Rengarajan P, Kalikhman D, Loureiro D, Saw NL, Zhengqui Z, Miller MA, Lerch JP, Henkelman RM, Shamloo M, Malenka RC, Crawley JN, & Dolmetsch RE (2014). Behavioral abnormalities and circuit defects in the basal ganglia of a mouse model of 16p11.2 deletion syndrome. Cell reports7(4), 1077-1092. [Go to article]

Steadman PE, Ellegood J, Szulc KU, Turnbull DH, Joyner AL, Henkelman RM, & Lerch JP (2014). Genetic effects on cerebellar structure across mouse models of autism using a magnetic resonance imaging atlas. Autism research7(1), 124-137. [Go to article]

Ellegood J, Anagnostou E, Babineau BA, Crawley JN, Lin L, Genestine M, DiCicco-Bloom E, Lai JKY, Foster JA, Peñagarikano O, Geschwind DH, Pacey LK, Hampson DR, Laliberté CL, Mills AA, Tam E, Osborne LR, Kouser M, Espinosa-Becerra F, Xuan Z, Powell CM, Raznahan A, Robins DM, Nakai N, Nakatani J, Takumi T, van Eede MC, Kerr TM, Muller C, Blakely RD, Veenstra-VanderWeele J, Henkelman RM, Lerch JP. (2015). Clustering autism: using neuroanatomical differences in 26 mouse models to gain insight into the heterogeneity. Mol Psychiatry 20(1):118–25. [Go to abstract]

Ellegood, J., & Crawley, J. N. (2015). Behavioral and neuroanatomical phenotypes in mouse models of autism. Neurotherapeutics12(3), 521-533. [Go to article]

Ellegood J, Nakai N, Nakatani J, Henkelman M, Takumi T, & Lerch J (2015). Neuroanatomical Phenotypes Are Consistent With Autism-Like Behavioral Phenotypes in the 15q11-13 Duplication Mouse Model. Autism Research8(5), 545-555. [Go to abstract]

Rilett, KC, Friedel M, Ellegood J, MacKenzie RN, Lerch JP, & Foster JA (2015). Loss of T cells influences sex differences in behavior and brain structure. Brain, Behavior, and Immunity. Brain, behavior, and immunity46, 249-260. [Go to abstract]

Lai JKY, Doering LC, & Foster JA (2016). Developmental expression of neuroligins and neurexins in Fragile X mice. Journal of Comparative Neurology524(4), 807-828. [Go to abstract]

Lai JKY, Lerch JP, Doering LC, Foster JA, & Ellegood J (2016). Regional brain volumes changes in adult male FMR1-KO mouse on the FVB strain. Neuroscience318, 12-21. [Go to abstract]

Tsai, P. T., Rudolph, S., Guo, C., Ellegood, J., Gibson, J. M., Schaeffer, S. M., … & Sahin, M. (2018). Sensitive periods for cerebellar-mediated autistic-like behaviors. Cell reports25(2), 357-367.

Yee, Y., Fernandes, D. J., French, L., Ellegood, J., Cahill, L. S., Vousden, D. A., … & Sled, J. G. (2018). Structural covariance of brain region volumes is associated with both structural connectivity and transcriptomic similarity. Neuroimage179, 357-372.

Aujnarain AB, Luo OD, Taylor N, Lai JKY, & Foster JA (2018). Effects of exercise and enrichment on behaviour in CD-1 mice. Behav Brain Res. 342:43-50. [Go to abstract]

Ellegood, J., Yee, Y., Kerr, T. M., Muller, C. L., Blakely, R. D., Henkelman, R. M., … & Lerch, J. P. (2018). Analysis of neuroanatomical differences in mice with genetically modified serotonin transporters assessed by structural magnetic resonance imaging. Molecular autism9(1), 24.

Silverman, J. L., & Ellegood, J. (2018). Behavioural and neuroanatomical approaches in models of neurodevelopmental disorders: opportunities for translation. Current opinion in neurology31(2), 126.

Horne, R., Pierre, J. S., Odeh, S., Surette, M., & Foster, J. A. (2019). Microbe and host interaction in gastrointestinal homeostasis. Psychopharmacology236(5), 1623-1640.

Ross PJ, Zhang WB, Mok RSF, Zaslavsky K, Deneault E, D’Abate L, Rodrigues DC, Yuen RKC, Faheem M, Mufteev M, Piekna A, Wei W, Pasceri P, Landa RJ, Nagy A, Varga B, Salter MW, Scherer SW and Ellis J. (2019). Synaptic Dysfunction in Human Neurons With Autism-Associated Deletions in PTCHD1-AS. Biological Psychiarty [Epub ahead of print Jul 29] [PMID: 31540669]

Rilett, K.C., O.D. Luo, K. McVey-Neufeld, R.N. MacKenzie, J.A. Foster. Loss of T cells influences sex differences in stress-related gene expression. 2020. J Neuroimmunol. 343:577213. Epub Mar 7, 2020. [Link to article]

Carriere, C.H., Wang, W.X., Sing, A.D., Fekete, A., Jones, B.E., Yee, Y., Ellegood, J., Maganti, H., Awofala, L., Marocha, J. and Aziz, A., 2020. The γ-Protocadherins Regulate the Survival of GABAergic Interneurons during Developmental Cell Death. Journal of Neuroscience40(45), pp.8652-8668. [Link to article]

Tamming, R.J., Dumeaux, V., Jiang, Y., Shafiq, S., Langlois, L., Ellegood, J., Qiu, L.R., Lerch, J.P. and Bérubé, N.G., 2020. Atrx deletion in neurons leads to sexually dimorphic dysregulation of miR-137 and spatial learning and memory deficits. Cell reports31(13), p.107838. [Link to article]

Carriere, C.H., Sing, A.D., Wang, W.X., Jones, B.E., Yee, Y., Marocha, J., Maganti, H., Ellegood, J., Awofala, L., Aziz, A. and Lerch, J.P., 2020. The gamma-Protocadherins regulate the survival of GABAergic interneurons during developmentally-regulated cell death. bioRxiv. [Link to article]

Lindenmaier, Z., Yee, Y., Kinman, A., Fernandes, D., Ellegood, J., Burton, C. L., Robins, D. M., Raznahan, A., Arnold, P., & Lerch, J. P. (2020). Characterization of mice bearing humanized androgen receptor genes (h/mAr) varying in polymorphism length. NeuroImage, 226, 117594.

iPS Cells

Kim D, Ross PJ, Zaslavsky K, & Ellis J (2014). Optimizing neuronal differentiation from induced pluripotent stem cells to model ASD. Frontiers in cellular neuroscience8, 109. [Go to article]

Djuric U, Cheung AY, Zhang W, Mok RS, Lai W, Piekna A, Hendry JA, Ross J, Pasceri P, Kim DS, Salter MW, & Ellis J. (2015). MECP2e1 isoform mutation affects the form and function of neurons derived from Rett syndrome patient iPS cells. Neurobiology of disease76, 37-45. [Go to article]

Kwan V, Hung CL, White S, Hoszapfel NT, Walker S, Murtaza N, Unda BK, Yuen RKC, Habing K, Milsom C, Hope K, Truant R, Scherer SW, & Singh KK (2016). DIXDC1 phosphorylation and control of dendritic morphology is impaired by rare genetic variants. Cell reports17(7), 1892-1904. [Go to POND research summary] [Go to article]

Djuric U, Rodrigues DC, Batruch I, Ellis J, Shannon P & Diamandis P (2017). Spatiotemporal proteomic profiling of human cerebral development. Molecular & Cellular Proteomics16(9), 1548-1562. [Go to article]

Richter M, Murtaza N, Scharrenberg R, White SH, Johanns O, Walker S, Yuen RKC, Schwanke B, Bedürftig B, Henis M, Scharf S, Kraus V, Dörk R, Hellmann J, Lindenmaier Z, Ellegood J, Hartung H, Kwan V, Sedlacik J, Fiehler J, Schweizer M, Lerch JP, Hanganu-Opatz IL, Morellini F, Scherer SW, Singh KK, de Anda FC (2018). Altered TAOK2 activity causes autism-related neurodevelopmental and cognitive abnormalities through RhoA signaling. Molecular psychiatry, 1. [Go to POND research summary] [Go to article]

Deneault E, Faheem M, White SH, Rodrigues DC, Sun S, Wei W, Piekna A, Thompson T, Howe JL, Chalil L, Kwan V, Walker S, Pasceri P, Roth FP, Yuen RK, Singh KK, Ellis J, and *Scherer SW. (2019). CNTN5-/+ or EHMT2-/+ human iPSC-derived neurons from individuals with autism develop hyperactive neuronal networks. Elife 8, e40092. [PMID: 30747104]

Zaslavsky K, Zhang W-B, McCready FP, Rodrigues DC, Deneault E, Loo C, Zhao M, Ross PJ, El Hajjar J, Romm A, Thompson T, Piekna A, Wei W, Wang Z, Khattak S, Mufteev M, Pasceri P, Scherer SW, Salter MW and Ellis J. (2019). SHANK2 mutations associated with autism spectrum disorder cause hyperconnectivity

Additional Study Areas 

Lai, M.C., Anagnostou, E., Wiznitzer, M., Allison, C. and Baron-Cohen, S., 2020. Evidence-based support for autistic people across the lifespan: maximising potential, minimising barriers, and optimising the person–environment fit. The Lancet Neurology. [Link to article]