Research Publications

photo of a computer and a legal pad

Research Publications

Date Revised: June 25, 2021

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.

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 articles.

2021 Publications

2021 SPARK Research Match Publications

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

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

The female protective effect against autism spectrum disorder
Wigdor, E., Weiner, D.J., Grove, J., Fu, J.M., Thompson, W.K., Carey, C.E., Baya, N., van der Merwe, C., Walters, R.K., Satterstrom, F.K., Palmer, D.S., Rosengren,A., Bybjerg-Grauholm, J., iPSYCH Consortium, Hougaard, D.M., Mortensen, P.B., Daly, M.J., Talkowski, M.E., Sanders, S.J., Bishop, S.L., Børglum, A.D., Robinson, E.B.
medRxiv, March 2021

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., Packe,r A., Chung, W., Jacquemont, S., Delorme, R., Bourgeron, T.
medRxiv, February 2021

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

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

Recent ultra-rare inherited mutations identify novel 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., SPARK Consortium, Zody, M.C., Eichler, E.
bioRxiv, February 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