Research Publications
Date Revised: October 1, 2025
Listed below are the scientific publications made possible by your participation in SPARK. Researchers use SPARK data and SPARK Research Match to investigate a wide variety of topics from genetic changes to school services.
A major part of the research process is sharing this knowledge by publishing these findings in peer-reviewed scientific journals. Peer review is a process by which scientific research papers are reviewed by other scientists and published only after they meet certain standards. Most of the articles, below, appear in peer-reviewed journals. We also list preprints. Preprints help scientists get their findings out quickly to other scientists so that they can learn from and comment on the research. Preprints have not gone through the peer-review process. Review articles and commentaries, which refer to SPARK but do not use SPARK data or Research Match, are also included in the list.
Click on a year to see the articles published in that year. Peer-reviewed articles link to abstracts that contain brief descriptions. Some have links to related SPARK reports. Preprints link to the abstracts or the articles.
2025 Publications
2025 SPARK Research Match Publications
Brief report: The vocational and educational activities of transition-aged autistic youth with low IQ
Moser, C., Adams, R., Zheng, S., Bishop, S., & Taylor, J. L.
Journal of Intellectual Disability Research, September 2025
The “Sensory Paradox”: Exploring the positive association between hyper- and hypo-responsivity to sensory stimuli in autism and beyond
Takach, K., Dunham-Carr, K., Parra, G., … & Levin, A. R.
medRxiv, September 2025
Ambiguities faced by parents who received a genetic diagnosis for autistic offspring with intellectual disabilities
Klitzman, R., Bezborodko, E., Chung, W. K., & Appelbaum, P. S.
Journal of Community Genetics, September 2025
Self-reported strengths and talents of autistic adults
Lampinen, L. A., Singer, J., Wang, X., VanHook, B., Wilkinson, E., & Bal, V. H.
Autism, August 2025
A comparative trial of Occupational Therapy using Ayres Sensory Integration and Applied Behavior Analysis interventions for autistic children
Schaaf, R. C., Ridgway, E. M., Jones, E. A., Dumont, R. L., Foxe, J., Conly, T., Sancimino, C., Yi, M., Mailloux, Z., Hunt, J. M., Kirschner, L., Leiby, B. E., & Molholm
Autism Research, August 2025
Examining associations between social experiences and loneliness among autistic youth
Libster, N., Taylor, J. L., Zheng, S., Bishop, S., & Adams, R.
Autism Research, August 2025
A gamified mHealth app to promote physical activity and reduce sedentary behavior in autistic adults: Protocol for a remotely delivered pilot intervention study
Lee, D., McNulty, L., Kathiravan, S., Mauriello, M. L., Vasudevan, V., Bhat, A., Obrusnikova, I., & Suminski, R.
JMIR Research Protocols, August 2025
Placebo effect in clinical trials in autism: Experience from a pregnenolone treatment study
McGrath, J. C., Gong, J., Hegarty, J. P., Fung, L. K., Uljarevic, M., & Hardan, A. Y.
Journal of Autism and Developmental Disorders, July 2025
Cognitive flexibility mediates the associations between perceived stress, social camouflaging and mental health challenges in autistic adults
Hollocks, M. J., McQuaid, G. A., Lee, N. R., & Wallace, G. L.
Autism Research, June 2025
Factor structure and psychometric properties of the Child Social Preference Scale-3 in children with autism
Chetcuti, L., Hardan, A. Y., Spackman, E., Baker, E., Frazier, T. W., & Uljarevic, M.
Autism Research, May 2025
An acoustic analysis of speech motor performance in autistic children
Maffei, M. F., Chenausky, K. V., Tager-Flusberg, H., & Green, J. R.
Journal of Speech, Language, and Hearing Research, May 2025
Pilot rural-urban comparison of health care experiences among autistic adolescents and young adults
Zhang, E., Alduraidi, W., Snyder, M., Kaiser, E., Hunley, S., Davis, A., Nelson, E. L., & Cheak-Zamora, N.
Autism, May 2025
Characterizing inhibitory control challenges among autistic adults: An examination of demographic and psychiatric moderators and associations with anxiety symptomatology
O’Brien, M. K., McQuaid, G. A., McNulty, J. R., Wallace, G. L., & Lee, N. R.
Journal of Autism and Developmental Disorders, May 2025
Altered perceptual integration and learning in autism revealed by games inspired by rodent operant tasks
Chakravarty, S., Do, Q., Li, Y., Tager-Flusberg, H., McGuire, J. T., & Scott, B. B.
bioRxiv, May 2025
Self-reported masking in sexual minority and heterosexual autistic adults
McQuaid, G. A., Lee, N. R., & Wallace, G. L.
Autism, April 2025
Genomic dissection of sleep archetypes in a large autism cohort
Brueggeman, L., Pottschmidt, N., Koomar, T., Thomas, T., & Michaelson., J. J.
medRxiv, April 2025
Personal pronoun comprehension in addressed and non-addressed situations in autistic and nonautistic preschoolers
Artis, J., Luyster, R. J., Carroll, L., He, A. X., & Arunachalam, S.
Journal of Cognition and Development, March 2025
Neural similarity and interaction success in autistic and non-autistic adolescents
McNaughton, K. A., Dziura, S., Lemay, E. P., Yarger, H. A., & Redcay, E.
Scientific Reports, March 2025
Simons Sleep Project (SSP): An open science resource for accelerating scalable digital health research in autism and other psychiatric conditions
Hacohen, M., Levi, A., Kaiser, H., Snyder, L., Amatya, A., Gundersen, B. B., Spiro, J. E., & Dinstein, I.
bioRxiv, February 2025
The Relationships, Employment, Autonomy, and Life Satisfaction (REALS) Measures for Autistic Adults and Adults With Other Intellectual and Developmental Disabilities: Psychometric testing of the self-report and proxy versions
Conner, C. M., Yu, L., MacKenzie, K. T., Zeglen, K. N., Rutenberg, E. L., Pilkonis, P. A., Eack, S. M., & Mazefsky, C. A.
Autism Research, February 2025
The dynamics of looking and smiling differ for young infants at elevated likelihood for ASD
Yurkovic-Harding, J., & Bradshaw, J. T.
Infancy, January 2025
Parents’ early concerns about their child with autism: Relation to age of diagnosis
Leach, M., Mazefsky, C.A. & Northrup, J.B.
Journal of Autism and Developmental Disorders, January 2025
2025 SPARK Research Data Publications
Polygenic and developmental profiles of autism differ by age at diagnosis
Zhang, X., Grove, J., Gu, Y., … & Warrier, V.
Nature, October 2025
Evaluation of familial phenotype deviation to measure the impact of de novo mutations in autism
Kim, S. W., Lee, H., Song, D. Y., Lee, G. H., … & An, J. Y.
Genome Medicine, August 2025
Associations between the SRS-2 and the ASEBA Adult Self Report: Implications for interpretation of the SRS-2 in autistic adults
Lampinen, L. A., Ederer, J. E., & Bal, V. H.
Journal of Autism and Developmental Disorders, August 2025
Psychiatric disorders converge on common pathways but diverge in cellular context, spatial distribution, and directionality of genetic effects
Engchuan, W., Shanta, O., Kumar, K., MacDonald, J. R., … & Sebat, J.
medRxiv, July 2025
Decomposition of phenotypic heterogeneity in autism reveals underlying genetic programs
Litman, A., Sauerwald, N., Green Snyder, L. … & Troyanskaya, O. G.
Nature Genetics, July 2025
Comparative analysis of autistic women across the lifespan: childhood vs. adulthood diagnosis
Diemer, M. C., Ros-Demarize, R., Bradley, C. C., Kanne, S., Kim, S. H., Parish-Morris, J., Snyder, L. G., Wodka, E., SPARK Consortium, & Carpenter, L. A.
Autism Research, June 2025
Enhancing the discriminatory power of polygenic scores for ADHD and autism in clinical and non-clinical samples
Li, J. J., He, Q., Dorn, S., Wang, Z., & Lu, Q.
Journal of Neurodevelopmental Disorders, June 2025
Deep-embedded clustering by relevant scales and genome-wide association study in autism
Ueno, F., Takahashi, I., Ohseto, H., Onuma, T., Narita, A., Obara, T., Ishikuro, M., Murakami, K., Noda, A., Matsuzaki, F., Metoki, H., Tamiya, G., Kure, S., & Kuriyama, S.
PloS One, May 2025
Genomic and Developmental Models to Predict Cognitive and Adaptive Outcomes in Autistic Children
Bourque, V. R., Schmilovich, Z., Huguet, G., England, J., Okewole, A., Poulain, C., … & Jacquemont, S.
JAMA Pediatrics, April 2025
Human and bacterial genetic variation shape oral microbiomes and health
Kamitaki, N., Handsaker, R. E., Hujoel, M. L. A., Mukamel, R. E., Usher, C. L., McCarroll, S. A., & Loh., P.
medRxiv, April 2025
Contribution of autosomal rare and de novo variants to sex differences in autism
Koko, M., Satterstrom, F. K., Autism Sequencing Consortium, APEX consortium, Warrier, V., & Martin, H.
American Journal of Human Genetics, February 2025
Relationship between service receipt during the COVID-19 pandemic and autistic children’s multisystem outcomes and autism severity: A SPARK dataset analysis
Tsai, J. M., & Bhat, A.
Autism Research, January 2025
Chromosome X-wide common variant association study in autism spectrum disorder
Mendes, M., Chen, D. Z., Engchuan, W., Leal, T. P., Thiruvahindrapuram, B., Trost, B., Howe, J. L., Pellecchia, G., … & Scherer, S. W.
American Journal of Human Genetics, January 2025 (Update)
2024 Publications
2024 SPARK Research Match Publications
Patterns and correlates of two-year changes in depressive symptoms for autistic adults
Zheng, S., Farmer, C., Lounds Taylor, J., Adams, R., Olson, L., & Bishop, S.
Frontiers in Psychiatry, December 2024
Racial and ethnic group differences in service utilization in children with autism spectrum disorder: The role of parental stigma
Rivera-Figueroa, K., Milan, S., Dumont-Mathieu, T., Quinn, D., & Eigsti, I. M.
Autism, November 2024
Elevated parkinsonism symptoms in autism during middle and older adulthood are linked with psychosocial, physical health, and mental health outcomes
Wallace, G. L., Said, A. J., & McQuaid, G. A.
Autism Research, November 2024
Alexithymia, inner thinking patterns, and perceptions of mental health therapy strategies among autistic adults
Mazurek, M. O., Pappagianopoulos, J., Brunt, S., Menezes, M., Smith, J. V., & Howard, M.
Journal of Autism and Developmental Disorders, November 2024
Inner experiences, mental health, and well-being in autistic and non-autistic adults
Mazurek, M. O., Pappagianopoulos, J., Brunt, S., Nevill, R., Menezes, M., Burroughs, C., Sadikova, E., Smith, J. V., & Howard, M.
Autism Research, November 2024
An examination of perceived stress and emotion regulation challenges as mediators of associations between camouflaging and internalizing symptomatology
McQuaid, G. A., Sadowski, L. Y., Lee, N. R., & Wallace, G. L.
Autism in Adulthood, September 2024
Exploring the effects of age and sex on sensory sensitivities in middle and older aged autistic adults
Charlton, R. A., McQuaid, G. A., Wallace, G. L.
Research in Autism Spectrum Disorders, September 2024
More similar than different: Characterizing special interests in autistic boys and girls based on caregiver report
Brown, C. E., Bernardin, C. J., Beauchamp, M. T., Kanne, S. M., & Nowell, K. P.
Autism Research, August 2024
Characterizing associations between emotion dysregulation, anxiety, and repetitive behaviors in autistic youth with intellectual disability
Ferguson, E. F., Spackman, E., Cai, R. Y., Hardan, A. Y., & Uljarević, M.
Autism Research, August 2024
Understanding autistic youths’ menstrual product preferences and caregivers’ product choices
Lundy, K. M., Fischer, A. J., Illapperuma-Wood, C. R., & Schultz, B.
Autism, August 2024
Barriers, motivators and strategies to increase participation in genetic research among Asian and Black families of autistic individuals
Tafolla, M., Amador, R., Oyeyemi, M. J., Algaze, Z., Pandey, J., Goin-Kochel, R. P., Sarver, D. E., & Gulsrud, A.
Journal of Community Genetics, August 2024
The how rather than the what: A qualitative analysis of modalities and caregiver descriptions of special interests in autistic youth
Brown, C. E., Collins, T., Foy, R. K., Bonish, K. E., Ramsey, T. E., Nowell, K. P., Bernardin, C. J., & Kanne, S. M.
Journal of Autism and Developmental Disorders, August 2024
Reduced precision of motor and perceptual rhythmic timing in autistic adults
Cannon, J., Cardinaux, A., Bungert, L., Li, C., & Sinha, P.
Heliyon, July 2024
Characteristics and correlates of aggressive behavior in autistic youths
Brown, C. E., Borduin, C. M., Sheerin, K. M., & Kanne, S. M.
Autism Research, July 2024
Perception and adaptation of receptive prosody in autistic adolescents
Kurumada, C., Rivera, R., Allen, P., & Bennetto, L.
Scientific Reports, July 2024
Results from a pilot randomized controlled trial of a single-session growth-mindset intervention for internalizing symptoms in autistic youth
Gerber, A. H., Nahmias, A., Schleider, J. L., & Lerner, M. D.
Journal of Autism and Developmental Disorders, June 2024
Latent structure of the WHOQOL-BREF: Implications for measuring quality of life among autistic adults
Kaplan-Kahn, E. A., McQuaid, G. A., Lee, N. R., Wallace, G. L., & Yerys, B. E.
Autism in Adulthood, June 2024
Academic learning challenges and links to vocational outcomes in young autistic adults
Grosman, H. E., Aragon-Guevara, D., McQuaid, G. A., Wallace, G. L., & Lee, N. R.
Autism, June 2024
Sleep and activity patterns in autism spectrum disorder
Weissenkampen, J., Ghorai, A., Fasolino, M., Gehringer, B., … & Bucan, M.
bioRxiv, June 2024
Dissociation between linguistic and nonlinguistic statistical learning in children with autism
Hu, A., Kozloff, V., Owen Van Horne, A., Chugani, D., & Qi, Z.
Journal of Autism and Developmental Disorders, May 2024
The Social Shapes Test as a self-administered, online measure of social intelligence: Two studies with typically developing adults and adults with autism spectrum disorder
Brown, M. I., Heck, P. R., & Chabris, C. F.
Journal of Autism and Developmental Disorders, May 2024
Proportional overrepresentation of gender-diverse identities in two US-based autistic adult samples from the SPARK database
Bungert,L., Li, C. E., Cardinaux, A. L., O’Brien, A. M., Cannon, J., Shkolnik, V., Gabrieli, J. D. E., Strang, J. F., & Sinha, P.
Autism in Adulthood, May 2024
Development of a self-report measure of prediction in daily life: The Prediction-Related Experiences Questionnaire
O’Brien, A. M., May, T. A., Koskey, K. L. K., Bungert, L., Cardinaux, A., Cannon, J., Treves, I. N., D’Mello, A. M., Joseph, R. M., Li, C., Diamond, S., Gabrieli, J. D. E., & Sinha, P.
Journal of Autism and Developmental Disorders, May 2024
Associations between social experiences and psychological health for autistic youth with low IQ
Taylor, J. L., Sullivan, V., Bishop, S. L., Zheng, S., & Adams, R. E.
Journal of Autism and Developmental Disorders, May 2024
Exploring Emotional Dysregulation and Avoidance with Caregivers as the Mechanisms Linking Social Communication Understanding and Aggressive Behaviours
Thompson, E. L., Gillespie-Smith, K., Mair, A. P. A., & Obsuth, I.
Journal of Autism and Developmental Disorders, May 2024
Autistic adults show intact learning on a visuospatial serial reaction time task
Treves, I. N., Cannon, J., Shin, E., Li, C. E., Bungert, L., O’Brien, A., Cardinaux, A., Sinha, P., & Gabrieli, J. D. E.
Journal of Autism and Developmental Disorders, April 2024
“Getting autism”: Educators, parents, and autistic adults and teens reflect on the importance of teachers who understand
Anderson, C., Wood, C. I., Franklin, L., Iampieri, A., & Sarsony, C.
Journal of Autism and Developmental Disorders, April 2024
Evidence-based recruitment strategies for clinical research: Study personnel’s and research participants’ perceptions about successful methods of outreach for a U.S. Autism-Research Cohort
Goin-Kochel, R. P., Lozano, I., Duhon, G., Marzano, G., Daniels, A., Law, J. K., … & Chung, W. K.
Journal of Clinical and Translational Science, April 2024
Correlates of impairment and growth in families of young autistic children
MacKenzie, K. T., Crown, M. J., Northrup, J. B., Rutenberg, E., Hartman, A. G., & Mazefsky, C. A.
Journal of Autism and Developmental Disorders, April 2024
Impact of a genetic diagnosis for a child’s autism on parental perceptions
Wynn, J., Karlsen, A., Huber, B., Levine, A., Salem, A., White, L. C., Luby, M., Bezborodko, E., Xiao, S., Chung, W. K., Klitzman, R. L., & Appelbaum, P. S.
Journal of Autism and Developmental Disorders, April 2024
The impact of cognitive behavioral therapy on sleep problems in autistic children with co-occurring anxiety
Harris, H. K., Kook, M., Boedeker, P., Gusick, A. G., Lyons-Warren, A. M., Goin-Kochel, R. P., Murali, C., Berry, L. N., & Storch, E. A.
Journal of Autism and Developmental Disorders, April 2024
A pilot study comparing the efficacy, fidelity, acceptability, and feasibility of telehealth and face-to-face creative movement interventions in children with autism spectrum disorder
Su, W. C., Cleffi, C., Srinivasan, S., & Bhat, A.
Telemedicine Reports, March 2024
Exploring factors of diagnostic timing among Black autistic youth
Onovbiona, H., Quetsch, L., & Del Rosario, E. A.
Journal of Autism and Developmental Disorders, March 2024
An examination of psychological flexibility as a mediator between mental health concerns and satisfaction with life among autistic adults
Aller, T. B., Kelley, H. H., Barrett, T. S., Covington, B., Levin, M. E., & McClain, M. B.
Autism in Adulthood, February 2024
Normal but different: Autistic adolescents who score within normal ranges on standardized language tests produce frequent linguistic irregularities in spontaneous discourse
Zane, E. R., & Grossman, R. B.
Autism & Developmental Language Impairments, January 2024
Polygenic scores clarify the relationship between mental health and gender diversity
Thomas, T. R., Tener, A. J., Pearlman, A. M., Imborek, K. L., Yang, J. S., Strang, J. F., & Michaelson, J. J.
Biological Psychiatry Global Open Science, January 2024
The Emotion Dysregulation Inventory-Young Child: Psychometric properties and item response theory calibration in 2- to 5-year-olds
Day, T. N., Mazefsky, C. A., Yu, L., Zeglen, K. N., Neece, C. L., & Pilkonis, P. A.
Journal of the American Academy of Child and Adolescent Psychiatry, January 2024
2024 SPARK Research Data Publications
Deleterious coding variation associated with autism is consistent across populations, as exemplified by admixed Latin American populations
Avila, M. N., Jung, S., Satterstrom, F. K., … & Buxbaum, J. D.
medRxiv, December 2024
Prematurity and genetic liability for autism spectrum disorder
Zhang Y, Yahia A, Sandin S, Åden U, & Tammimies K.
medRxiv, November 2024
Large-scale metagenomic analysis of oral microbiomes reveals markers for autism spectrum disorders
Manghi, P., Filosi, M., Zolfo, M., Casten, L. G., Garcia-Valiente, A., Mattevi, S., Heidrich, V., Golzato, D., Perini, S., Thomas, A. M., Montalbano, S., Cancellieri, S., Waldron, L., Hall, J. B., Xu, S., Volfovsky, N., Green Snyder, L., Feliciano, P., Asnicar, F., Valles-Colomer, M., … Domenici, E.
Nature Communications, November 2024
Delayed milestones and demographic factors relate to the accuracy of autism screening in females using spoken language
Kniola, A., Ludwig, N. N., Singh, V., Bradley, C., Carpenter, L., Dillon, E. F., Kanne, S., Kim, S. H., Parish-Morris, J., Snyder, L. G., SPARK Consortium, & Wodka, E. L.
Journal of Autism and Developmental Disorders, October 2024
Machine learning prediction of autism spectrum disorder from a minimal set of medical and background information
Rajagopalan, S. S., Zhang, Y., Yahia, A., & Tammimies, K.
JAMA Network Open, August 2024
Decomposition of phenotypic heterogeneity in autism reveals distinct and coherent genetic programs
Litman, A., Sauerwald, N., Snyder, L. G., Foss-Feig, J., Park, C. Y., Hao, Y., Dinstein, I., Theesfeld, C. L., & Troyanskaya, O. G.
medRxiv, August 2024
Review: Child psychiatry in the era of genomics: The promise of translational genetics research for the clinic
Fitzpatrick, S. E., Antony, I., Nurmi, E. L., Fernandez, T. V., Chung, W. K., … & Hoffman, E. J.,
JAACAP Open, August 2024
Copy number variants differ in frequency across genetic ancestry groups
Schultz, L. M., Knighton, A., Huguet, G., Saci, Z., Jean-Louis, M., Mollon, J., Knowles, E. E. M., Glahn, D. C., Jacquemont, S., & Almasy, L.
HGG Advances, August 2024
Autistic characteristics, cognitive impairment, and sex as predictors of anxiety and depression among autistic youth
Long, E. E., Johnson, M. F., & Carpenter, L. A.
Journal of Autism and Developmental Disorders, August 2024
Data-driven characterization of individuals with delayed autism diagnosis
Aizenberg, D., Shalev, I., Uzefovsky, F., & Eran, A.
medRxiv, July 2024
Validating motor delays across the developmental coordination disorder-questionnaire and the Vineland adaptive behavior scales (VABS) in children with autism spectrum disorder (ASD): A SPARK dataset analysis
Bhat A. N.
Autism Research, July 2024
Return of genetic research results in 21,532 individuals with autism
Wright, J. R., Astrovskaya, I., Barns, S. D., Goler, A., Zhou, X., Shu, C., Snyder, L. G., Han, B., SPARK Consortium, Shen, Y., Volfovsky, N., Hall, J. B., Feliciano, P., & Chung, W. K.
Genetics in Medicine, July 2024
Phenotypic and ancestry-related assortative mating in autism
Zhang, J., Weissenkampen, J. D., Kember, R. L., iPSYCH Consortium, Grove, J., Børglum, A. D., Robinson, E. B., Brodkin, E. S., Almasy, L., Bucan, M., & Sebro, R.
Molecular Autism, June 2024
Enrichment of a subset of Neanderthal polymorphisms in autistic probands and siblings
Pauly, R., Johnson, L., Feltus, F. A., & Casanova, E. L.
Molecular Psychiatry, May 2024
Noncoding de novo mutations in SCN2A are associated with autism spectrum disorders
Zhang, Y., Ahsan, M. U., & Wang, K.
medRxiv : The preprint server for health sciences, May 2024
Identification of moderate effect size genes in autism spectrum disorder through a novel gene pairing approach
Caballero, M., Satterstrom, F. K., Buxbaum, J. D., & Mahjani, B.
medRxiv : The preprint server for health sciences, April 2024
SPARKing new insight Into autism across the lifespan
Sudnawa, K. K., & Chung, W. K.
American Journal on Intellectual and Developmental Disabilities, March 2024
The Genotype and Phenotypes in Families (GPF) platform manages the large and complex data at SFARI
Chorbadjiev, L., Cokol, M., Weinstein, Z., Shi, K., Fleisch, C., Dimitrov, N., …& Iossifov, I.
bioRxiv, February 2024
Topologically associating domains define the impact of de novo promoter variants on autism spectrum disorder risk
Nakamura, T., Ueda, J., Mizuno, S., Honda, K., Kazuno, A. A., Yamamoto, H., Hara, T., & Takata, A.
Cell Genomics, January 2024
HAT: de novo variant calling for highly accurate short-read and long-read sequencing data
Ng, J. K. & Turner, T. N.
Bioinformatics, January 2024
2023 Publications
2023 SPARK Research Match Publications
Early childhood aggression in autistic and non-autistic preschoolers: Prevalence, topography, and relationship to emotional reactivity
Sivathasan, S., Eldeeb, S., Northrup, J. B., Antezana, L., Ionadi, A., Wakschlag, L. S., & Mazefsky, C. A. (2023).
JAACAP Open, December 2023
Increased anticholinergic medication use in middle-aged and older autistic adults and its associations with self-reported memory difficulties and cognitive decline
McQuaid, G. A., Duane, S. C., Ahmed, N., Lee, N. R., Charlton, R., & Wallace, G. L.
Autism Research, December 2023
Parents’ views of benefits and limitations of receiving genetic diagnoses for their offspring
Klitzman, R., Bezborodko, E., Chung, W. K., & Appelbaum, P. S.
Child: Care, Health and Development, December 2023
Racial and practical barriers to diagnostic and treatment services for Black families of autistic youth: A mixed-method exploration
Onovbiona, H. U, Bradley, R., & Quetsch, L. B.
Journal of Autism and Developmental Disorders, December 2023
Telehealth versus face-to-face fine motor and social communication interventions for children With autism spectrum disorder: efficacy, fidelity, acceptability, and feasibility
Su, W. C., Cleffi, C., Srinivasan, S., & Bhat, A.
The American Journal of Occupational Therapy, November 2023
Self-reported memory of autistic young adults and associated real-world outcomes
Godfrey, M., McQuaid, G. A., Wallace, G. L., & Lee, N. R.
Research in Autism Spectrum Disorders, November 2023
Alcohol use patterns among underage autistic and non-autistic youth
Holmes, L. G., Xuan, Z., Quinn, E., Caplan, R., Sanchez, A., Wharmby, P., Holingue, C., Levy, S., & Rothman, E. F.
Journal of Autism and Developmental Disorders, September 2023
Behavioral parent training engagement among young children with autism spectrum disorder
Ros-DeMarize, R., Klein, J., & Carpenter, L. A.
Behavior Therapy, September 2023
Examining the latent structure and correlates of sensory reactivity in autism: a multi-site integrative data analysis by the autism sensory research consortium
Williams, Z. J., Schaaf, R., Ausderau, K. K., Baranek, G. T., Barrett, D. J., Cascio, C. J., Dumont, R. L., Eyoh, E. E., Failla, M. D., Feldman, J. I., Foss-Feig, J. H., Green, H. L., Green, S. A., He, J. L., Kaplan-Kahn, E. A., Keçeli-Kaysılı, B., MacLennan, K., Mailloux, Z., Marco, E. J., Mash, L. E., … Woynaroski, T. G.
Molecular Autism, August 2023
Word learning with orthographic support in nonspeaking and minimally speaking school-age autistic children
Clark, G. T., & Reuterskiöld, C.
Journal of Speech, Language, and Hearing Research, June 2023
Sexual minority identities in autistic adults: Diversity and associations with mental health symptoms and subjective quality of life
McQuaid, G. A., Gendy, J., Lee, N. R., & Wallace, G. L.
Autism in Adulthood, June 2023
Associations between social activities and depressive symptoms in adolescents and young adults with autism spectrum disorder: Testing the indirect effects of loneliness
Adams, R. E., Lampinen, L., Zheng, S., Sullivan, V., Taylor, J. L., & Bishop, S. L.
Autism, May 2023
Reliability of the commonly used and newly-developed autism measures
Frazier, T. W., Whitehouse, A. J. O., Leekam, S. R., Carrington, S. J., Alvares, G. A., Evans, D. W., Hardan, A. Y., & Uljarević, M.
Journal of Autism and Developmental Disorders, April 2023
Understanding aggression in autism across childhood: Comparisons with a non-autistic sample
Quetsch, L. B., Brown, C., Onovbiona, H., Bradley, R., Aloia, L., & Kanne, S.
Autism Research, April 2023
Cardiovascular disease risk factors in autistic adults: The impact of sleep quality and antipsychotic medication use
Bishop, L., Charlton, R. A., McQuaid, G. A., Lee, N. R., & Wallace, G. L.
Autism Research, March 2023
Cardiovascular risk and emotion regulation contribute to depression symptomatology in middle-aged and older autistic adults
Charlton, R. A., McQuaid, G. A., Bishop, L., & Wallace, G. L.
Research in Autism Spectrum Disorders, March 2023
Self-reported cognitive decline among middle and older age autistic adults
Klein, C. B., McQuaid, G. A., Charlton, R. A., Klinger, L. G., & Wallace, G. L.
Autism Research, March 2023
Self-report measurement of well-being in autistic adults: Psychometric properties of the PERMA profiler
Grosvenor, L. P., Errichetti, C. L., Holingue, C., Beasley, J. B., & Kalb, L. G.
Autism in Adulthood, March 2023
Examining parents’ perceptions of their children’s autism and completion of genetic testing
Sakyi, G. J., Mire, S. S., Goin-Kochel, R., Murali, C., & Day., S. X.
International Journal of Developmental Disabilities, March 2023
The network structure of the Special Interests Survey
Brown, C. E., Beauchamp, M. T., Nowell, K. P., Bernardin, C. J., & Kanne, S. M.
Autism Research, February 2023
Characterizing restricted and unusual interests in autistic youth
Spackman, E., Smillie, L. D., Frazier, T. W., Hardan, A. Y., Alvares, G. A., Whitehouse, A., & Uljarević, M.
Autism Research, February 2023
Profiles of circumscribed interests in autistic youth
Spackman, E., Smillie, L. D., Frazier, T. W., Hardan, A. Y., Alvares, G. A., Whitehouse, A., & Uljarević, M.
Frontiers in Behavioral Neuroscience, February 2023
Predictors of sleep quality for autistic people across adulthood
Charlton, R. A., McQuaid, G. A., Bishop, L., Lee, N. R., & Wallace, G. L.
Autism Research, January 2023
Predictors of aggression, disruptive behavior, and anger dysregulation in youths with autism spectrum disorder
Brown, C. E., Quetsch, L. B., Aloia, L. S., & Kanne, S. M.
Journal of Autism and Developmental Disorders, January 2023
Social-interactive reward elicits similar neural response in autism and typical development and predicts future social experiences
McNaughton, K., Kirby, L. A., Warnell, K. R., Alkire, D., Merchant, J. S., Moraczewski, D., Yarger, H. A., Thurm, A. & Redcay, E.
Developmental Cognitive Neuroscience, January 2023
A mixed methods study of autistic adults’ mental health therapy experiences
Mazurek, M. O., Pappagianopoulos, J., Brunt, S., Sadikova, E., Nevill, R., Menezes, M., & Harkins, C.
Clinical Psychology & Psychotherapy, January 2023
Associations between parenting stress and quality time in families of youth with autism spectrum disorder
Bradley, R. S., Staples, G. L., Quetsch, L. B., Aloia, L. S., Brown, C. E., & Kanne, S. M.
Journal of Autism and Developmental Disorders, January 2023
Screening, diagnosis, and intervention for autism: Experiences of Black and multiracial families seeking care
Weitlauf, A. S., Miceli, A., Vehorn, A., Dada, Y., Pinnock, T., Harris, J. W., Hine, J., & Warren, Z.
Journal of Autism and Developmental Disorders, January 2023
2023 SPARK Research Data Publications
Effectiveness of multimodal participant recruitment in SPARK, a large, online longitudinal research study of autism
Daniels, A. M., Law, J. K., Green Snyder, L., Diehl, K., Goin-Kochel, R. P., Feliciano, P., Chung, W. K., & SPARK Consortium
Journal of Clinical and Translational Science, December 2023
Fewer children with autism spectrum disorder with motor challenges receive physical and recreational therapies compared to standard therapies: A SPARK data set analysis
Bhat, A. N.
Autism, September 2023
Phenotypic effects of genetic variants associated with autism
Rolland, T., Cliquet, F., Anney, R. J. L., Moreau, C., Traut, N., Mathieu, A., Huguet, G., Duan, J., Warrier, V., Portalier, S., Dry, L., Leblond, C. S., Douard, E., Amsellem, F., Malesys, S., Maruani, A., Toro, R., Børglum, A. D., Grove, J., Baron-Cohen, S., … & Bourgeron, T.
Nature Medicine, June 2023
Factor structure of the VABS-3 Comprehensive Parent/Caregiver form in autistic individuals: Poor fit of three-factor and unidimensional models
Wilkinson, E., Farmer, C., Kleiman, E., & Bal, V. H.
Autism, June 2023
Exploring the common genetic architecture of autism spectrum disorder using a novel multi-polygenic risk score approach
Schmilovich, Z., Bourque, V-R., Huguet, G., He, Q., Ross, J. P., … & Rouleau, G.
medRxiv, June 2023
Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants
Smolen, C., Jensen, M., Dyer, L., Pizzo, L., Tyryshkina, A., Banerjee, D., … & Girirajan, S.
medRxiv, June 2023
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis
Gehin, C., Lone, M. A., Lee, W., Capolupo, L., Ho, S., Adeyemi, A. M., Gerkes, E. H., … & Gennarino, V. A.
The Journal of Clinical Investigation, May 2023
Sharing parental genomes by siblings concordant or discordant for autism
Wroten, M., Yoon, S., Andrews, P., Yamrom, B., Ronemus, M., Buja, A., Krieger, A. M., Levy, D., Ye, K., Wigler, M., & Iossifov, I.
Cell Genomics, May 2023
Agreement of parent-reported cognitive level with standardized measures among children with autism spectrum disorder
Lee, C. M., Green Snyder, L., Carpenter, L. A., Harris, J., Kanne, S., Taylor, C. M., Sarver, D. E., Stephenson, K. G., Shulman, L. H., Wodka, E. L., Esler, A., & SPARK Consortium
Autism Research, April 2023
Genetic ablation of GIGYF1, associated with autism, causes behavioral and neurodevelopmental defects in zebrafish and mice
Ding, Z., Huang, G., Wang, T., Duan, W., Li, H., Wang, Y., Jia, H., Yang, Z., Wang, K., Chu, X., Kurtz-Nelson, E. C., Ahlers, K., Earl, R. K., Han, Y., Feliciano, P., Chung, W. K., Eichler, E. E., Jiang, M., & Xiong, B.
Biological Psychiatry, March 2023
Comorbidities in autism spectrum disorder and their etiologies
Khachadourian, V., Mahjani, B., Sandin, S., Kolevzon, A., Buxbaum, J. D., Reichenberg, A., & Janecka, M.
Translational Psychiatry, February 2023
Cross-replicating findings on unique motor impairments of children with ASD using confirmatory factor analysis and a novel SPARK study sample
Bhat, A., Tulsky, D. S., & Boulton, A. J.
Autism Research, February 2023
Evaluating causal psychological models: A study of language theories of autism using a large sample
Tang, B., Levine, M., Adamek, J. H., Wodka, E. L., Caffo, B. S., & Ewen, J. B.
Frontiers in Psychology, February 2023
Rhythmic and interval-based temporal orienting in autism
Cannon, J., Eldracher, E., Cardinaux, A., Irfan, F., Bungert, L., Li, C., O’Brien, A., Treves, I., Diamond, S., & Sinha, P.
Autism Research, January 2023
2022 Publications
2022 SPARK Research Match Publications
Dimensional Assessment of Restricted and Repetitive Behaviors: Development and preliminary validation of a new measure
Uljarević, M., Frazier, T. W., Jo, B., Scahill, L., Youngstrom, E. A., Spackman, E., Phillips, J. M., Billingham, W., & Hardan, A.
Journal of the American Academy of Child and Adolescent Psychiatry, December 2022
Vocational outcomes in ASD: An examination of work readiness skills as well as barriers and facilitators to employment identified by autistic adults
Lee, N. R., McQuaid, G. A., Grosman, H. A., Jayaram, S., & Wallace, G. L.
Journal of Autism and Developmental Disorders, November 2022
Understanding changes in genetic literacy over time and in genetic research participants
Little, I. D., Koehly, L. M., & Gunter, C.
American Journal of Human Genetics, November 2022
The combination of autism and exceptional cognitive ability is associated with suicidal ideation
Casten, L. G., Thomas, T. R., Doobay, A. F., Foley-Nicpon, M., Kramer, S., Nickl-Jockschat, T., Abel, T., Assouline, S., & Michaelson, J. J.
Neurobiology of Learning and Memory, November 2022
Re-consenting pediatric research participants as legal adulthood approaches: Lessons from the SPARK autism study
Anderson, C., Iampieri, A., Franklin, L., Daniels, A., Diehl, K., & Law, J. K.
Journal of Autism and Developmental Disorders, November 2022
A randomized controlled trial of everolimus for neurocognitive symptoms in PTEN hamartoma tumor syndrome
Srivastava, S., Jo, B., Zhang, B., Frazier, T., Gallagher, A. S., Peck, F., Levin, A. R., Mondal, S., Li, Z., Filip-Dhima, R., Geisel, G., Dies, K. A., Diplock, A., Eng, C., Hanna, R., Sahin, M., Hardan, A., & Developmental Synaptopathies Consortium
Human Molecular Genetics, October 2022
Stepped-care cognitive behavioral therapy in children on the autism spectrum with co-occurring anxiety
Storch, E. A., Schneider, S. C., Olsen, S. M., Ramirez, A. C., Berry, L. N., Goin-Kochel, R. P., McNeel, M., Candelari, A. E., Guzick, A. G., Cepeda, S. L., Weinzimmer, S., Voigt, R. G., Quast, T., Goodman, W. K., & Salloum, A.
Journal of Autism and Developmental Disorders, October 2022
Immersive and maladaptive daydreaming and divergent thinking in autism spectrum disorders
West, M. J., Somer, E. & Eigsti, I. M.
Imagination, Cognition and Personality, October 2022
Shared challenges and cooccurrence of maladaptive daydreaming and autism spectrum disorder
West, M. J., Somer, E. & Eigsti, I. M.
Advances in Neurodevelopmental Disorders, October 2022
Parental tuning of language input to autistic and nonspectrum children
He, A. X., Luyster, R. J., & Arunachalam, S.
Frontiers in Psychology, September 2022
Measuring psychological flexibility in autistic adults: The validity and reliability of the AAQ-II, BEAQ, and VQ
T. B., Barrett, T. S., Levin, M. E., McClain, M. B.
Journal of Contextual Behavior Science, September 2022
Increased perceived stress is negatively associated with activities of daily living and subjective quality of life in younger, middle, and older autistic adults
McQuaid, G. A., Weiss, C., Job Said, A., Pelphrey, K. A., Lee, N. R., & Wallace, G. L.
Autism Research, August 2022
Co-occurring ADHD symptoms in autistic adults are associated with less independence in daily living activities and lower subjective quality of life
Yerys, B. E., McQuaid, G. A., Lee, N. R., & Wallace, G. L.
Autism, August 2022
The Autism Impact Measure (AIM): Meaningful change thresholds and core symptom changes over one year from an online survey in the U.S.
Silkey, M., Durán-Pacheco, G., Johnson, M., Liu, C., Clinch, S., Law, K., & Loss, G.
Journal of Autism and Developmental Disorders, July 2022
Obtaining a first diagnosis of autism spectrum disorder: Descriptions of the diagnostic process and correlates of parent satisfaction from a national sample
MacKenzie, K. T., Mazefsky, C. A., & Eack, S. M.
Journal of Autism and Developmental Disorders, July 2022
Theory of mind in naturalistic conversations between autistic and typically developing children
Alkire, D., McNaughton, K. A., Yarger, H. A., Shariq, D., & Redcay, E.
Autism, June 2022
Aberrant causal inference and presence of a compensatory mechanism in autism spectrum disorder
Noel, J., Shivkumar, S., Dokka, K., Haefner, R. M., & Angelaki, D. E.
eLife, May 2022
Measuring subjective quality of life in autistic adults with the PROMIS global–10: Psychometric study and development of an autism-specific scoring method
Williams, Z. J., Cascio, C., J., & Woynaroski, T. G.
Autism, April 2022
Social support and links to quality of life among middle-aged and older autistic adults
Charlton, R. A., McQuaid, G. A., & Wallace, G. L.
Autism, April 2022
Cortical activation during cooperative joint actions and competition in children with and without an autism spectrum condition (ASC): an fNIRS study
Su, W. C., Culotta, M., Tsuzuki, D., & Bhat, A.
Scientific Reports, March 2022
Effect of children’s autism spectrum disorder severity on family strain and sleep quality: a cross-sectional online survey in the U.S.
Durán-Pacheco, G., Silkey, M., Johnson, M., Liu, C., Clinch, S., Law, K., & Loss, G.
Journal of Autism and Developmental Disorders, February 2022
Current and lifetime somatic symptom burden among transition-aged autistic young adults
Williams, Z. J., & Gotham, K. O.
Autism Research, January 2022
2022 SPARK Data Publications
Quantifying constraint in human mitochondrial DNA
Lake, N. J., Liu, W., Battle, S. L., Laricchia, K., Tiao, G., Compton, A. G., Cowie, S., Christodoulou, J., Thorburn, D. R., Zhao, H., Arking, D. E., Sunyaev, S. R., & Lek, M.
bioRxiv, December 2022
Multidimensional motor performance in children with autism mostly remains stable with age and predicts social communication delay, language delay, functional delay, and repetitive behavior severity after accounting for intellectual disability or cognitive delay: A SPARK dataset analysis
Bhat A.
Autism Research, December 2022
Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders
Wang, T., Kim, C. N., Bakken, T. E., Gillentine, M. A., Henning, B., Mao, Y., Gilissen, C., SPARK Consortium, Nowakowski, T. J., & Eichler, E. E.
Proceedings of the National Academy of Sciences of the United States of America, November 2022
Structural models of genome-wide covariance identify multiple common dimensions in autism
de Hoyos l., Barendse, m. T., Schlag, F., van Donkelaar, M., Verhoef, E., Shapland, C. Y., Klassmann, A., Buitelaar, J., Verhulst, B., Fisher, S. E., Rai, D., & St Pourcain, B.
medRxiv, October 2022
KnockoffTrio: A knockoff framework for the identification of putative causal variants in genome-wide association studies with trio design
Yang, Y., Wang, C., Liu, L., Buxbaum, J., He, Z., & Ionita-Laza, I.
American Journal of Human Genetics, September 2022
de novo variant calling identifies cancer mutation signatures in the 1000 Genomes Project
Ng, J. K., Vats, P., Fritz-Waters, E., Sarkar, S., Sams, E. I., Padhi, E. M., Payne, Z. L., Leonard, S., West, M. A., Prince, C., Trani, L., Jansen, M., Vacek, G., Samadi, M., Harkins, T. T., Pohl, C., & Turner, T. N.
Human Mutation, September 2022
, & Autism Research, August 2022
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes
Zhou, X., Feliciano, P., Shu, C., … Chung, W. K.
Nature Genetics, August 2022
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
Fu, J.M., Satterstrom, F.K., Peng, M., … Talkowski, M. E.
Nature Genetics, August 2022
Exclusion of females in autism research: Empirical evidence for a “leaky” recruitment-to-research pipeline
D’Mello, A. M., Frosch, I. R., Li, C. E., Cardinaux, A. L., & Gabrieli, J.
Autism Research, August 2022
Developmental variability in autism across 17,000 autistic individuals and 4000 siblings without an autism diagnosis: Comparisons by cohort, intellectual disability, genetic etiology, and age at diagnosis
Kuo, S. S., van der Merwe, C., Fu, J. M., Carey, C. E., Talkowski, M. E., Bishop, S. L., & Robinson, E. B.
JAMA Pediatrics, July 2022
The female protective effect against autism spectrum disorder
Wigdor, E. M., Weiner, D. J., Grove, J., Fu, J. M., Thompson, W. K., Carey, C. E., Baya, N., van der Merwe, C., Walters, R. K., Satterstrom, … Robinson, E. B.
Cell Genomics, June 2022
A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex
Antaki, D., Guevara, J., Maihofer, A. X., Klein, M., Gujral, M., Grove, J., Carey, C. E., Hong, O., Arranz, M. J., Hervas, A., … Sebat, J.
Nature Genetics, June 2022
Genetic correlates of phenotypic heterogeneity in autism
Warrier, V., Zhang, X., Reed, P., Havdahl, A., Moore, T. M., Cliquet, F., Leblond, C. S., Rolland, T., Rosengren, A., EU-AIMS LEAP, iPSYCH-Autism Working Group, … Baron-Cohen, S.
Nature Genetics, June 2022
Discovery of eQTL Alleles Associated with Autism: A Case-Control Study
Hickman, A. R., Selee, B., Pauly, R., Husain, B., Hang, Y., & Feltus, F. A.
Journal of Autism and Developmental Disorders, June 2022
Clinical autism subscales have common genetic liabilities that are heritable, pleiotropic, and generalizable to the general population
Thomas, T. R., Koomar, T., Casten, L. G., Tener, A. J., Bahl, E., & Michaelson, J. J.
Translational Psychiatry, May 2022
Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency
Gofin, Y., Wang, T., Gillentine, M. A., Scott, T. M., Berry, A. M., Azamian, M. S., Genetti, C., Agrawal, P. B., Picker, J., Wojcik, M. H., … Scott, D. A.
Human Mutation, April 2022
Big Data Approach to Characterize Restricted and Repetitive Behaviors in Autism
Uljarević, M., Frazier, T. W., Jo, B., Billingham, W. D., Cooper, M. N., Youngstrom, E. A., Scahill, L., & Hardan, A. Y.
Journal of the American Academy of Child and Adolescent Psychiatry, March 2022
A further study of relations between motor impairment and social communication, cognitive, language, functional impairments, and repetitive behavior severity in children with ASD using the SPARK study dataset
Bhat, A. N., Boulton, A. J., & Tulsky, D. S.
Autism Research, March 2022
Statistical and functional convergence of common and rare variant risk for autism spectrum disorders at chromosome 16p
Weiner, D. J., Ling, E., Erdin, S., Tai, D. J C., Yadav, et. al.
medRxiv, March 2022
Autism in gifted youth is associated with low processing speed and high verbal ability
Michaelson, J. J., Doobay, A., Casten, L., Schabilion, K., Foley-Nicpon, M., Nickl-Jockschat, T., Abel, T., & Assouline, S.
medRxiv, March 2022
Accurate in silico confirmation of rare copy number variant calls from exome sequencing data using transfer learning
Tan, R. & Shen, Y.
bioRxiv, March 2022
Potential role for immune-related genes in autism spectrum disorders: Evidence from genome-wide association meta-analysis of autistic traits
Arenella, M., Cadby, G., De Witte, W., Jones, R. M., Whitehouse, A. J., Moses, E. K., Fornito, A., Bellgrove, M. A., Hawi, Z., Johnson, B., Tiego, J., Buitelaar, J. K., Kiemeney, L. A., Poelmans, G., & Bralten, J.
Autism, February 2022
Enhancing the discriminatory power of ADHD and autism spectrum disorder polygenic scores in clinical and non-clinical samples
Li, J. J., He, Q., Wang, Z., & Lu, Q.
medRxiv, February 2022
Utilization of a Best Practice Alert (BPA) at point-of-care for recruitment into a US-based autism research study
Simon, A. R., Ahmed, K. L., Limon, D. L., Duhon, G. F., Marzano, G., & Goin-Kochel, R. P.
Journal of Autism and Developmental Disorders, January 2022
Use of a Best Practice Alert (BPA) to increase diversity within a US-based autism research cohort
Duhon, G. F., Simon, A. R., Limon, D. L., Ahmed, K. L., Marzano, G., & Goin-Kochel, R. P.
Journal of Autism and Developmental Disorders, January 2022
2021 Publications
2021 SPARK Research Match Publications
The impact of COVID-19 on the mental health and wellbeing of caregivers of autistic children and youth: A scoping review
Lee, V., Albaum, C., Tablon Modica, P., Ahmad, F., Gorter, J. W., Khanlou, N., McMorris, C., Lai, J., Harrison, C., Hedley, T., Johnston, P., Putterman, C., Spoelstra, M., & Weiss, J. A.
Autism Research, December 2021
Job loss predicts worsening depressive symptoms for young adults with autism: A COVID-19 natural experiment
Taylor, J. L., Adams, R. E., Pezzimenti, F., Zheng, S., & Bishop, S. L.
Autism Research, October 2021
Investigating the structure of trait rumination in autistic adults: A network analysis
Williams, Z. J., McKenney, E. E., & Gotham, K. O.
Autism, October 2021
Analysis of the SPARK study COVID-19 parent survey: Early impact of the pandemic on access to services, child/parent mental health, and benefits of online services
Bhat, A.
Autism Research, September 2021
Improving the Measurement of Alexithymia in Autistic Adults: A Psychometric Investigation of the 20-item Toronto Alexithymia Scale and Generation of a General Alexithymia Factor Score Using Item Response Theory
Williams, Z. J., & Gotham, K. O.
Molecular Autism, August 2021
“I Don’t Do Much Without Researching Things Myself”: A Mixed Methods Study Exploring the Role of Parent Health Literacy in Autism Services Use for Young Children
Lindly, O. J., Cabral, J., Mohammed, R., Garber, I., Mistry, K. B., & Kuhlthau, K. A.
Journal of Autism and Developmental Disorders, August 2021
Psychological distress among caregivers raising a child with autism spectrum disorder during the COVID-19 pandemic
Kalb, L. G., Badillo-Goicoechea, E., Holingue, C., Riehm, K. E., Thrul, J., Stuart, E. A., Smail, E. J., Law, K., White-Lehman, C., & Fallin, D.
Autism Research, August 2021
Assessing general and autism relevant quality of life in autistic adults: A psychometric investigation using item response theory
Williams Z. J., Gotham K. O.
Autism Research, August 2021
Camouflaging in autism spectrum disorder: Examining the roles of sex, gender identity, and diagnostic timing
McQuaid, G. A., Lee, N. R., & Wallace, G. L.
Autism, August 2021
Self-reported parkinsonism features in older autistic adults: A descriptive study
Geurts, H. M., McQuaid, G. A., Begeer, S., & Wallace, G. L.
Autism, June 2021
Psychometric validation and refinement of the Interoception Sensory Questionnaire (ISQ) in adolescents and adults on the autism spectrum
Suzman, E., Williams, Z. J., Feldman, J. I., Failla, M., Cascio, C. J., Wallace, M. T., Niarchou, M., Sutcliffe, J. S., Wodka, E., & Woynaroski, T. G.
Molecular Autism, June 2021
Genetic and morphological estimates of androgen exposure predict social deficits in multiple neurodevelopmental disorder cohorts
McKenna, B. G., Huang, Y., Vervier, K., Hofammann, D., Cafferata, M., Al-Momani, S., Lowenthal, F., Zhang, A., Koh, J. Y., Thenuwara, S., Brueggeman, L., Bahl, E., Koomar, T., Pottschmidt, N., Kalmus, T., Casten, L., Thomas, T. R., & Michaelson, J. J.
Molecular Autism, June 2021
Estimating the prevalence and genetic risk mechanisms of ARFID in a large autism cohort
Koomar, T., Thomas, T.R., Pottschmidt, N.R., Lutter, M., & Michaelson, J.J.
Frontiers in Psychiatry, June 2021
Depression in independent young adults on the autism spectrum: Demographic characteristics, service use, and barriers
Zheng, S., Adams, R., Taylor, J. L., Pezzimenti, F., & Bishop, S. L.
Autism: The International Journal of Research and Practice, April 2021
Perceived helpfulness of depression treatments among young adults with autism
Zheng, S., Taylor, J. L., Adams, R., Pezzimenti, F., & Bishop, S. L.
Autism Research, April 2021
Ten weeks in: COVID-19-related distress in adults with autism spectrum disorder
Adams, R. E., Zheng, S., Taylor, J. L., & Bishop, S. L.
Autism: The International Journal of Research and Practice, April 2021
Associations between social camouflaging and internalizing symptoms in autistic and non-autistic adolescents
Bernardin, C. J., Lewis, T., Bell, D., & Kanne, S.
Autism: The International Journal of Research and Practice, March 2021
“You must become a chameleon to survive”: adolescent experiences of camouflaging
Bernardin, C. J., Mason, E., Lewis, T., & Kanne, S.
Journal of Autism and Developmental Disorders, February 2021
Early pandemic experiences of autistic adults: predictors of psychological distress
Bal, V. H., Wilkinson, E., White, L. C., Law, J. K., SPARK Consortium, Feliciano, P., & Chung, W. K.
Autism Research, February 2021
Brief report: Impact of COVID-19 on individuals with ASD and their caregivers: A perspective from the SPARK cohort
White, L. C., Law, J. K., Daniels, A. M., Toroney, J., Vernoia, B., Xiao, S., SPARK Consortium, Feliciano, P., & Chung, W. K.
Journal of Autism and Developmental Disorders, January 2021
2021 SPARK Data Publications
Environmental carcinogens disproportionally mutate genes implicated in neurodevelopmental disorders
Baker, B. H., Zhang, S., Simon, J. M. McLarnan, S. M., Chung, W. K., & Pearson, B. L.
bioRxiv, December 2021
Rare coding variation illuminates the allelic architecture, risk genes, cellular expression patterns, and phenotypic context of autism
Fu, J. M., Satterstrom, F. K., Peng, M., Brand, H., Collins, R. L., Dong, S., et. al.
medRxiv, December 2021
Sex differences in autism: examining intrinsic and extrinsic factors in children and adolescents enrolled in a national ASD cohort
Dillon, E. F., Kanne, S., Landa, R. J., Annett, R., Bernier, R., Bradley, C., Carpenter, L., Kim, S. H., Parish-Morris, J., Schultz, R., Wodka, E. L., & SPARK Consortium
Journal of Autism and Developmental Disorders, December 2021
Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene
Qiao, L., Xu, L., Yu, L., Wynn, J., Hernan, R., Zhou, X., Farkouh-Karoleski, C., Krishnan, U. S., Khlevner, J., De, A., Zygmunt, A., Crombleholme, T., Lim, F. Y., Needelman, H., Cusick, R. A., Mychaliska, G. B., Warner, B. W., Wagner, A. J., Danko, M. E., Chung, D., … Chung, W. K.
American Journal of Human Genetics, October 2021
Imputing cognitive impairment in SPARK, a large autism cohort
Shu, C., Green Snyder, L., Shen, Y., Chung, W. K., & SPARK Consortium
Autism Research, October 2021
SUPERGNOVA: local genetic correlation analysis reveals heterogeneous etiologic sharing of complex traits
Zhang, Y., Lu, Q., Ye, Y., Huang, K., Liu, W., Wu, Y., Zhong, X., Li, B., Yu, Z., Travers, B. G., Werling, D. M., Li, J. J., & Zhao, H.
Genome Biology, September 2021
Integrated gene analyses of de novo mutations from 46,612 trios with autism and developmental disorders
Wang, T., Kim, C., Bakken, T. E., Gillentine, M. A., Henning, B., Mao, Y., Gilissen, C., The SPARK Consortium, Nowakowski, T. J., & Eichler, E. E.
bioRxiv, September 2021
- Preprint (PDF Format)
Clinical autism subscales have common genetic liability that is heritable, pleiotropic, and generalizable to the general population
Thomas, T. R., Koomar, T., Casten, L., Tener, A., Bahl, E., & Michaelson, J. J.
medRxiv, September 2021
- Preprint (PDF Format)
“Guilt by association” is not competitive with genetic association for identifying autism risk genes
Gunning, M., & Pavlidis, P.
Scientific Reports, August 2021
Genetic correlates of phenotypic heterogeneity in autism
Warrier, V., Zhang, X. Reed, P., Havdahl, A., Moore, T. M., Cliquet, F., Leblond, C. S., Rolland, T., Rosengren, et. al.
medRxiv, August 2021
- Preprint (PDF Format)
Advancing methodologies to improve RRB outcome measures in autism research: Evaluation of the RBS-R
Sturm, A., Huang, S., & Kuhfeld, M.
Psychological Assessment, August 2021
Patterns of delay in early gross motor and expressive language milestone attainment in probands with genetic conditions versus idiopathic ASD from SFARI registries. Journal of child psychology and psychiatry, and allied disciplines
Wickstrom, J., Farmer, C., Green Snyder, L., Mitz, A. R., Sanders, S. J., Bishop, S., & Thurm, A.
Journal of Child Psychology and Psychiatry, August 2021
Recent ultra-rare inherited variants implicate new autism candidate risk genes
Wilfert, A. B., Turner, T. N., Murali, S. C., Hsieh, P., Sulovari, A., Wang, T., Coe, B. P., Guo, H., Hoekzema, K., Bakken, T. E., Winterkorn, L. H., Evani, U. S., Byrska-Bishop, M., Earl, R. K., Bernier, R. A., SPARK Consortium, Zody, M. C., & Eichler, E. E.
Nature Genetics, August 2021
Co-occurring attention-deficit/hyperactivity disorder and anxiety disorders differentially affect males and females with autism
Wodka, E. L., Parish-Morris, J., Annett, R. D., Carpenter, L., Dillon, E., Michaelson, J., Kim, S. H., Landa, R., SPARK Consortium, & Kanne, S.
The Clinical Neuropsychologist, July 2021
Validation of autism diagnosis and clinical data in the SPARK cohort
Fombonne, E., Coppola, L., Mastel, S., & O’Roak, B.
Journal of Autism and Developmental Disorders, July 2021
Interpreting polygenic score effects in sibling analysis
Fletcher, J., Wu, Y., Li, T., & Lu, Q.
bioRxiv, July 2021
- Preprint (PDF Format)
Moderators of age of diagnosis in > 20,000 females with autism in two large US studies
Kavanaugh, B.C., Schremp, C. A., Jones, R. N., Best, C. R., Sheinkopf, S. J., & Morrow, E. M.
Journal of Autism and Developmental Disorders, May 2021
Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH
Zhu, N., Swietlik, E. M., Welch, C. L., Pauciulo, M. W., Hagen, J. J., Zhou, X., Guo, Y., Karten, J., Pandya, D., Tilly, T., Lutz, K. A., Martin, J. M., Treacy, C. M., Rosenzweig, E. B., Krishnan, U., Coleman, A. W., Gonzaga-Jauregui, C., Lawrie, A., Trembath, R. C., Wilkins, M. R., … Chung, W. K.
Genome Medicine, May 2021
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders
Gillentine, M. A., Wang, T., Hoekzema, K., Rosenfeld, J., Liu, P., Guo, H., Kim, C. N., De Vries, B., Vissers, L., Nordenskjold, M., Kvarnung, M., Lindstrand, A., Nordgren, A., Gecz, J., Iascone, M., Cereda, A., Scatigno, A., Maitz, S., Zanni, G., Bertini, E., … Eichler, E. E.
Genome Medicine, April 2021
Milestone development in genetic conditions from SFARI registries
Wickstrom, J., Farmer, C., Green Snyder, L., Mitz, A.R., Sanders, S., Bishop, S., & Thurm, A.
medRxiv, April 2021
- Preprint (PDF Format)
Towards a gene-level map of resilience to genetic variants associated with autism
Rolland, T., Cliquet, F., Anney, R.J.L., Traut, N., Mathieu, A., Huguet, G., Leblond, C.S., Douard, E., Amsellem, F., Malesys, S., Maruani, A., Toro, R., Packer, A., Chung, W., Jacquemont, S., Delorme, R., & Bourgeron, T.
medRxiv, February 2021
- Preprint (PDF format)
Genetic and morphological estimates of androgen exposure predict social deficits in multiple neurodevelopmental disorder cohorts
McKenna, B.G., Huang, Y., Vervier, K., Hofamman, D., Cafferata, M., Al-Momani, S., Lowenthal, F., Zhang, A., Koh, J.-Y., Thenuwara, S., Brueggeman, L., Bahl, E., Koomar, T., Pottschmidt, N., Kalmus, T., Casten, L., Thomas, T.R., & Michaelson, J.
medRxiv, February 2021
- Preprint (PDF Format)
Large mosaic copy number variations confer autism risk
Sherman, M. A., Rodin, R. E., Genovese, G., Dias, C., Barton, A. R., Mukamel, R. E., Berger, B., Park, P. J., Walsh, C. A., & Loh, P. R.
Nature Neuroscience, February 2021
The relationship between developmental coordination disorder and concurrent deficits in social communication and repetitive behaviors among children with autism spectrum disorder
Ketcheson, L. R., Pitchford, E. A., & Wentz, C. F.
Autism Research, January 2021
Motor impairment increases in children with autism spectrum disorder as a function of social communication, cognitive and functional impairment, repetitive behavior severity, and comorbid diagnoses: a SPARK study report
Bhat A. N.
Autism Research, January 2021
2020 Publications
2020 SPARK Research Match Publications
Social camouflaging in autistic and neurotypical adolescents: a pilot study of differences by sex and diagnosis
Jorgenson, C., Lewis, T., Rose, C., & Kanne, S.
Journal of Autism and Developmental Disorders, December 2020
Characterization of special interests in autism spectrum disorder: A brief review and pilot study using the Special Interests Survey
Nowell, K. P., Bernardin, C. J., Brown, C., & Kanne, S.
Journal of Autism and Developmental Disorders, October 2020
Measuring depression in autistic adults: psychometric validation of the Beck Depression Inventory-II
Williams, Z. J., Everaert, J., & Gotham, K. O.
Assessment, August 2020
Beliefs about causes of autism and vaccine hesitancy among parents of children with autism spectrum disorder
Goin-Kochel, R. P., Fombonne, E., Mire, S. S., Minard, C. G., Sahni, L. C., Cunningham, R. M., & Boom, J. A.
Vaccine, July 2020
Vaccine hesitancy and attributions for autism among racially and ethnically diverse groups of parents of children with autism spectrum disorder: a pilot study
Chang, J., & Kochel, R.
Autism Research, July 2020
2020 SPARK Data Publications
Psychiatric and medical profiles of autistic adults in the SPARK cohort
Fombonne, E., Green Snyder, L., Daniels, A., Feliciano, P., Chung, W., & SPARK Consortium
Journal of Autism and Developmental Disorders, October 2020
Gamete simulation improves polygenic transmission disequilibrium analysis
Chen, J., You, J., Zhao, Z., Ni, Z., Huang, K., Wu, Y., Fletcher, J.M., Lu, Q.
bioRxiv, October 2020
Estimating genetic nurture with summary statistics of multi-generational genome-wide association studies
Wu, Y., Zhong, X., Lin, Y., Zhao, Z., Chen, J., Zheng, B., Li, J.J., Fletcher, J.M., Lu, Q
bioRxiv, October 2020
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
Wang, T., Hoekzema, K., Vecchio, D., Wu, H., Sulovari, A., Coe, B. P., Gillentine, M. A., Wilfert, A. B., Perez-Jurado, L. A., Kvarnung, M., Sleyp, Y., Earl, R. K., Rosenfeld, J. A., Geisheker, M. R., Han, L., Du, B., Barnett, C., Thompson, E., Shaw, M., Carroll, R., … Eichler, E. E.
Nature Communications, October 2020
Evaluating two common strategies for research participant recruitment Into autism studies: observational study
Ahmed, K. L., Simon, A. R., Dempsey, J. R., Samaco, R. C., & Goin-Kochel, R. P.
Journal of medical internet research, September 2020
Common genetic risk variants identified in the SPARK cohort support DDHD2 as a candidate risk gene for autism
Matoba, N., Liang, D., Sun, H., Aygün, N., McAfee, J. C., Davis, J. E., Raffield, L. M., Qian, H., Piven, J., Li, Y., Kosuri, S., Won, H., & Stein, J. L.
Translational Psychiatry, August 2020
Local genetic correlation analysis reveals heterogeneous etiologic sharing of complex traits
Zhang, Y., Lu, Q., Ye, Y., Huang, K., Liu, W., Wu Y., Zhong, X., Li, B., Yu, Z., Travers, B.G., Werling, D., Li, J.J., Zhao ,H
bioRxiv, May 2020
Insufficient evidence for “autism-specific” genes
Myers, S. M., Challman, T. D., Bernier, R., Bourgeron, T., Chung, W. K., Constantino, J. N., Eichler, E. E., Jacquemont, S., Miller, D. T., Mitchell, K. J., Zoghbi, H. Y., Martin, C. L., & Ledbetter, D. H.
American Journal of Human Genetics, May 2020
N-terminal variant Asp14Asn of the human p70 S6 Kinase 1 enhances translational signaling causing different effects in developing and mature neuronal cells
Venkatasubramani, J. P., Subramanyam, P., Pal, R., Reddy, B. K., Srinivasan, D. J., Chattarji, S., Iossifov, I., Klann, E., & Bhattacharya, A.
Neurobiology of Learning and Memory, May 2020
Rare variant analysis of 4,241 pulmonary arterial hypertension cases from an international consortium implicate FBLN2, PDGFD and rare de novo variants in PAH
Zhu, N., Swietlik, E.M., Welch, C.L., Pauciulo, M.W., Hagen, J.J., Zhou, X., Guo, Y., Karten, J., Pandya, D., Tilly, T., Lutz, K.A., Rosenzweig, E., Krishnan, U., Coleman, A.W., Gonzaga,-Juaregiu C., Lawrie, A., Trembath, R.C., Wilkins, M.R., Regeneron Genetics Center, PAH Biobank Enrolling Centers’ Investigators, NIHR BioResource for Translational Research – Rare Diseases, National Cohort Study of Idiopathic and Heritable PAH, Morrell, N.W., Shen, Y., Gräf S., Nichols, W.C., Chung, W.
bioRxiv, May 2020
Is motor impairment in autism spectrum disorder distinct from developmental coordination disorder? A report from the SPARK study
Bhat A. N.
Physical Therapy, April 2020
Forecasting risk gene discovery in autism with machine learning and genome-scale data
Brueggeman, L., Koomar, T., & Michaelson, J. J.
Scientific Reports, March 2020
Beliefs in vaccine as causes of autism among SPARK cohort caregivers
Fombonne, E., Goin-Kochel, R. P., O’Roak, B. J., & SPARK Consortium
Vaccine, February 2020
2019 Publications
2019 SPARK Research Match Publications
Psychometric validation of the Autism Impact Measure (AIM)
Houghton, R., Monz, B., Law, K., Loss, G., Le Scouiller, S., de Vries, F., & Willgoss, T.
Journal of Autism and Developmental Disorders, June 2019
Treatment patterns in children with autism in the United States
Monz, B. U., Houghton, R., Law, K., & Loss, G.
Autism Research, March 2019
2019 SPARK Data Publications
Transcriptome-wide transmission disequilibrium analysis identifies novel risk genes for autism spectrum disorder
Huang, K., Wu, Y., Shin, J., Zheng, Y., Siahpirani, A.F., Lin, Y., Ni, Z., Chen, J., You, J., Keles, S., Wang, D., Roy, S., Lu, Q.
bioRxiv, November 2019
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
Feliciano, P., Zhou, X., Astrovskaya, I., Turner, T. N., Wang, T., Brueggeman, L., Barnard, R., Hsieh, A., Snyder, L. G., Muzny, D. M., Sabo, A., SPARK Consortium, Gibbs, R. A., Eichler, E. E., O’Roak, B. J., Michaelson, J. J., Volfovsky, N., Shen, Y., & Chung, W. K.
NPJ Genomic Medicine, August 2019
2018 Publications
2018 SPARK Data Publications
SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research
SPARK Consortium
Neuron, February 2018