2024 SPARK Research Match Publications

2024 SPARK Research Data Publications

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

• Abstract

HAT: de novo variant calling for highly accurate short-read and long-read sequencing data
Ng, J. K. & Turner, T. N.
Bioinformatics, January 2024

• Abstract

2023 SPARK Research Match Publications

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

• Abstract

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

• Abstract

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

• Abstract

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

• Abstract

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

• Abstract

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

• Abstract
• SPARK Summary Report (PDF)
• SPARK Summary Report (web page)

Behavioral parent training engagement among young children with autism spectrum disorder
Ros-DeMarize, R., Klein, J., & Carpenter, L. A.
Behavior Therapy, September 2023

• Abstract

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

• Abstract

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

• Abstract
• SPARK Summary Report (PDF)
• SPARK Summary Report (web page)

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

• Abstract

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

• Abstract

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

• Abstract
• SPARK Summary Report (PDF)
• SPARK Summary Report (web page)

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

• Abstract
• SPARK Summary Report (PDF)
• SPARK Summary Report (web page)

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

• Abstract

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

• Abstract

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

• Abstract

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

• Abstract

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

• Abstract

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

• Abstract

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 

• Abstract

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

• Abstract

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

• Abstract

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

• Abstract

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

• Abstract

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

• Abstract
• SPARK Summary Report (PDF)
• SPARK Summary Report (web page)

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

• Abstract

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

• Abstract
• SPARK Summary Report (PDF)
• SPARK Summary Report (web page)

2023 SPARK Research Data Publications

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

• Abstract

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

• Abstract

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

• Abstract

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

• Preprint

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

• Preprint

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

• Article

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

• Abstract

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

• Abstract

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

• Abstract

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

• Abstract

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

• Article

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

• Abstract

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

• Abstract

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

• Abstract

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

• Abstract

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

• Abstract

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

• Abstract

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

• Abstract

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

• Abstract
• SPARK Summary Report (PDF)
• SPARK Summary Report (web page)

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

• Abstract
• SPARK Summary Report (PDF)
• SPARK Summary Report (web page)

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

• Abstract
• SPARK Summary Report (PDF)
• SPARK Summary Report (web page)

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

• Abstract

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

• Abstract

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

• Abstract

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

• Abstract

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

• Abstract

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

• Abstract

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

• Abstract
• SPARK Summary Report (PDF)
• SPARK Summary Report (web page)

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

• Abstract

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

• Abstract

Current and lifetime somatic symptom burden among transition-aged autistic young adults
Williams, Z. J., & Gotham, K. O.
Autism Research, January 2022

• Abstract
• SPARK Summary Report (PDF)
• SPARK Summary Report (web page)

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

• Preprint

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

• Abstract

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

• Abstract

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

• Preprint

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

• Abstract

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

• Abstract

Associations between co-occurring conditions and age of autism diagnosis: Implications for mental health training and adult autism research
Jadav, N., & Bal, V. H.
Autism Research, August 2022

• Article

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

• Article
• Author interview

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

• Abstract

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

• Abstract

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

• Abstract

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

• Abstract

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

• Abstract

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

• Abstract

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

• Abstract

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

• Abstract

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

• Abstract

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

• Abstract

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

• Abstract

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

• Preprint

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

• Preprint

Accurate in silico confirmation of rare copy number variant calls from exome sequencing data using transfer learning
Tan, R. & Shen, Y.
bioRxiv, March 2022

• Preprint

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

• Abstract

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

• Preprint

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

• Abstract

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

• Abstract

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

• Abstract

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

• Abstract

Investigating the structure of trait rumination in autistic adults: A network analysis
Williams, Z. J., McKenney, E. E., & Gotham, K. O.
Autism, October 2021

• Abstract
• SPARK Summary Report

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

• Abstract
• SPARK Summary Report (PDF)
• SPARK Summary Report (web page)

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

• Abstract

“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

• Abstract

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

• Abstract
• SPARK Summary Report (PDF)
• SPARK Summary Report (web page)

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

• Abstract

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

• Abstract

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

• Abstract
• SPARK Summary Report

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

• Abstract

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

• Abstract

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

• Abstract
• SPARK Summary Report

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

• Abstract
• SPARK Summary Report

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

• Abstract
• SPARK Summary Report

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

• Abstract

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

• Abstract

“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

• Abstract

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

• Abstract
• SPARK Summary Report

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

• Abstract
• SPARK Summary Report

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

• Preprint

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

• Preprint

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

• Abstract
• SPARK Snapshot – Women and Girls

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

• Abstract

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

• Abstract

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

• Abstract

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

• Abstract

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

• Abstract

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

• Abstract

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

• Abstract

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

• Abstract

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

• Abstract

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

• Abstract

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

• Abstract

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

• Abstract

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

• Abstract

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

• Abstract

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

• Abstract

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

• Abstract
• SPARK Summary Report
• SPARK Article

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

• Abstract
• SPARK Summary Report

Measuring depression in autistic adults: psychometric validation of the Beck Depression Inventory-II
Williams, Z. J., Everaert, J., & Gotham, K. O.
Assessment, August 2020

• Abstract

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

• Abstract
• SPARK Summary Report

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

• Abstract
• SPARK Summary Report

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

• Abstract
• SPARK Article

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

• Preprint

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

• Preprint

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

• Abstract

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

• Abstract

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

• Abstract
• SPARK Article

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

• Preprint

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

• Abstract

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

• Abstract

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

• Preprint

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

• Abstract
• SPARK Article

Forecasting risk gene discovery in autism with machine learning and genome-scale data
Brueggeman, L., Koomar, T., & Michaelson, J. J.
Scientific Reports, March 2020

• Abstract

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

• Abstract

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

• Abstract

Treatment patterns in children with autism in the United States
Monz, B. U., Houghton, R., Law, K., & Loss, G.
Autism Research, March 2019

• Abstract
• SPARK Summary Report
• SPARK Article

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

• Preprint

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

• Abstract
• SPARK Article

2018 SPARK Data Publications

SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research
SPARK Consortium
Neuron, February 2018

• Abstract
• SPARK Article