Publications

Sullivan, J; Perry, MS; Scheffer, IE; Wheless, J; Boronat, S; Brunklaus, A; Laux, L; Patel, AD; Roberts, C; Dlugos, D; Vila, MC; Huang, N; Gofshteyn, JS; Rico, S. Cognitive stagnation and executive function deficits in young children with SCN1A+ Dravet syndrome: Detailed characterization of onset, progression, and impact in the ENVISION natural history study. Epilepsia. 2025.

Mckinney, WS; Nelson, M; Shaffer, RC; Dominick, KC; Erickson, CA; Schmitt, LM. Brief Report: Differences Between Stanford-Binet Abbreviated and Full-Scale Estimates of IQ in Fragile X Syndrome Vary Across Development. Journal of Autism and Developmental Disorders. 2025.

Erickson, CA; Shaffer, RC; Will, M; Schmitt, LM; Horn, P; Hirst, K; Pedapati, EV; Ober, N; Tumuluru, RV; Handen, BL; Beversdorf, DQ. Brief Report: A Double-Blind, Placebo-Controlled, Crossover, Proof-of-Concept Study of Minocycline in Autism Spectrum Disorder. Journal of Autism and Developmental Disorders. 2025; 55(9):3387-3394.

Kang, S; Stepanek, M; Reisinger, DL; Schmitt, LM; Kennedy, M; Loar, J; Shaffer, RC. Regulating together in schools: feasibility and acceptability of a teacher-led emotion regulation intervention for autistic youth. International Journal of Developmental Disabilities. 2025; ahead-of-print(ahead-of-print):1-16.

Nelson, MA; Shaffer, RC; Schmitt, LM; Coffman, MC; Horn, PS; Reisinger, DL; Erickson, CA. Health Related Quality of Life in Autistic Youth and Their Families. Journal of Autism and Developmental Disorders. 2025; 55(6):1982-1987.

Argonis, RA; Pedapati, EV; Dominick, KC; Harris, K; Lamy, M; Fosdick, C; Schmitt, L; Shaffer, RC; Smith, E; Will, M; Mcdougle, CJ; Erickson, CA. Patterns in Medication Use for Treatment of Depression in Autistic Spectrum Disorder. Journal of Autism and Developmental Disorders. 2025; 55(6):1969-1975.

Smith, JD; Wamsley, F; Gile, AC; Weber, S; Adams, R; Esbensen, AJ; Shaffer, RC; Ayers, K. Practice Makes Possible: Preliminary Feasibility of an Air Travel Accessibility Program for Children and Young Adults with Autism Spectrum Disorder and Their Families. Advances in Neurodevelopmental Disorders. 2025; 1-11.

Mckinney, WS; Schmitt, LM; De Stefano, LA; Ethridge, L; Norris, JE; Horn, PS; Dauterman, S; Rosselot, H; Pedapati, EV; Reisinger, DL; Friedman, NR; Hong, M; Sweeney, JA; Erickson, C. Results from a Double-Blind, Randomized, Placebo-Controlled, Single-Dose, Crossover Trial of Lovastatin or Minocycline in Fragile X Syndrome. Journal of Child and Adolescent Psychopharmacology. 2025; 35(4):211-221.

Mckinney, WS; Tadevich, LJ; Schmitt, LM; Horn, PS; Ruberg, JR; White, SW; Reisinger, DL; Burkett, KW; Sarawgi, S; Kang, S; Shaffer, RC. Study protocol for a randomized controlled trial of Regulating Together (RT), a group therapy for emotion dysregulation in school-age autistic youth and their caregivers. BMC Psychology. 2025; 13(1):436.

Pedapati, EV; Ethridge, LE; Liu, Y; Liu, R; Sweeney, JA; Destefano, LA; Miyakoshi, M; Razak, K; Schmitt, LM; Moore, DR; Dominick, KC; Horn, PS; Binder, D; Erickson, CA. Frontal cortex hyperactivation and gamma desynchrony in Fragile X syndrome: Correlates of auditory hypersensitivity. PLoS ONE. 2025; 20(5):e0306157.

Nelson, MA; Schmitt, LM; Horn, PS; Berry-Kravis, E; Hessl, D; Shaffer, RC; Carpenter, R; Budimirovic, DB; Wang, P; Reisinger, DL; Walton-Bowen, K; Erickson, CA. Parent-Reported Outcome Measures for Individuals with Fragile X Syndrome: Clinically Meaningful Change Thresholds. Journal of Autism and Developmental Disorders. 2024.

Schmitt, LM; Nelson, M; Shaffer, RC; Erickson, CA. A near normal distribution of IQ in Fragile X Syndrome. Scientific Reports. 2024; 14(1):23058.

Wright, JR; Astrovskaya, I; Barns, SD; Goler, A; Zhou, X; Shu, C; Snyder, LG; Han, B; Shen, Y; Volfovsky, N; Hall, JB; Feliciano, P; Chung, WK. Return of genetic research results in 21,532 individuals with autism. Genetics in Medicine. 2024; 26(10):101202.

Reisinger, DL; Goodwin, MS; Horn, PS; Schmitt, LM; Coffman, MC; Shaffer, RC. Examining the feasibility and utility of heart rate variability on intervention outcomes targeting emotion regulation in autism: a brief report. Scientific Reports. 2024; 14(1):15409.

Coffman, M; Wells, M; Schmitt, LM; Reisinger, DL; Horn, PS; Shaffer, RC. Telehealth regulating together pilot trial: emotion regulation intervention for autistic children and adolescents. Frontiers in Psychiatry. 2024; 15:1401148.

Kang, S; Minshawi, NF; Shaffer, RC. Training and Supporting Caregivers in Evidence-Based Practices. In: Handbook of Early Intervention for Autism Spectrum Disorders. Springer Nature; 2024:631-651.

Liu, R; Pedapati, EV; Schmitt, LM; Shaffer, RC; Smith, EG; Dominick, KC; Destefano, LA; Westerkamp, G; Horn, P; Sweeney, JA; Erickson, CA. Reliability of resting-state electrophysiology in fragile X syndrome. Biomarkers in Neuropsychiatry. 2023; 9.

Shaffer, R. 53.1 Regulating Together Intensive Outpatient Program: A Unique, Comprehensive Group Treatment Intervention for Children with ASD and Emotion Dysregulation and Their Caregivers. Journal of the American Academy of Child and Adolescent Psychiatry. 2023; 62(10):s78-s79.

Wells, MR; Coffman, MC; Schmitt, LM; Reisinger, D; Horn, P; Shaffer, R. 6.30 Regulating Together: Improvements in Youth With ASD and Emotion Dysregulation Enrolled in Virtual Intervention. Journal of the American Academy of Child and Adolescent Psychiatry. 2023; 62(10):s295.

Kang, S; Jones, A; Shaffer, RC; Erickson, CA; Schmitt, LM. Developing improved outcome measures in FXS: Key stakeholder feedback. Research in Developmental Disabilities. 2023; 137:104502.

Erickson, CA; Tessier, CR; Gross, C; Pedapati, EV; Wink, LK; Dominick, KC; Shaffer, RC; Rosselot, H; Hong, MP; Bantel, AP; Berry-Kravis, E; Horn, PS; Adams, R; Sweeney, JA. Lymphocytic Extracellular Signal-Regulated Kinase Dysregulation in Autism Spectrum Disorder. Journal of the American Academy of Child and Adolescent Psychiatry. 2023; 62(5):582-592.e2.

Shaffer, RC; Schmitt, LM; Reisinger, DL; Coffman, M; Horn, P; Goodwin, MS; Mazefsky, C; Randall, S; Erickson, C. Regulating Together: Emotion Dysregulation Group Treatment for ASD Youth and Their Caregivers. Journal of Autism and Developmental Disorders. 2023; 53(5):1942-1962.

Shaffer, RC; Reisinger, DL; Schmitt, LM; Lamy, M; Dominick, KC; Smith, EG; Coffman, MC; Esbensen, AJ. Systematic Review: Emotion Dysregulation in Syndromic Causes of Intellectual and Developmental Disabilities. Journal of the American Academy of Child and Adolescent Psychiatry. 2023; 62(5):518-557.

Jones, A; Kang, S; Shaffer, RC; Erickson, CA; Schmitt, LM. Behavioral inflexibility in fragile X syndrome: Accounts from caregivers and self-advocates. Frontiers in Psychology. 2023; 14:1118652.

Verma, S; Vandana, P; Soda, T; Koth, KA; Aguayo, P; Shaffer, RC; Hellings, J; Muhle, RA. Incorporation of Telepsychiatry for Patients with Developmental Disorders into Routine Clinical Practice-A Survey of Specialty Clinics Adapting to Telepsychiatry During the COVID-19 Pandemic. Journal of Autism and Developmental Disorders. 2022; 52(12):5280-5284.

Rosen, V; Blank, E; Lampert, E; Dominick, K; Will, M; Erickson, C; Pedapati, E; Lamy, M; Shaffer, R. Brief Report: Telehealth Satisfaction Among Caregivers of Pediatric and Adult Psychology and Psychiatry Patients with Intellectual and Developmental Disability in the Wake of Covid-19. Journal of Autism and Developmental Disorders. 2022; 52(12):5253-5265.

Jones, MZ; Kang, S; Blank, E; Coffman, M; Reisinger, DL; Schmitt, L; Randall, SC; Shaffer, RC; Lamy, M. 3.28 Diverse Experiences During Regulating Together Emotion Dysregulation Treatment. Journal of the American Academy of Child and Adolescent Psychiatry. 2022; 61(10):s236-s237.

Silver, H; Rosselot, H; Shaffer, R; Lozano, R. The Impact of the COVID-19 Pandemic on School-Aged Children with Fragile X Syndrome. Genes. 2022; 13(9).

Schmitt, LM; Sweeney, JA; Erickson, CA; Shaffer, R. Brief Report: Feasibility of the Probabilistic Reversal Learning Task as an Outcome Measure in an Intervention Trial for Individuals with Autism Spectrum Disorder. Journal of Autism and Developmental Disorders. 2022; 52(9):4191-4199.

Zhou, X; Feliciano, P; Shu, C; Wang, T; Astrovskaya, I; Hall, JB; Obiajulu, JU; Wright, JR; Murali, SC; Xu, SX; Volfovsky, N; Eichler, EE; Shen, Y; Chung, WK. Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes. Nature Genetics. 2022; 54(9):1305-1319.

Yurkovic-Harding, J; Lisandrelli, G; Shaffer, RC; Dominick, KC; Pedapati, EV; Erickson, CA; Yu, C; Kennedy, DP. Children with ASD establish joint attention during free-flowing toy play without face looks. Current Biology. 2022; 32(12):2739-2746.e4.

Pedapati, EV; Schmitt, LM; Ethridge, LE; Miyakoshi, M; Sweeney, JA; Liu, R; Smith, E; Shaffer, RC; Dominick, KC; Gilbert, DL; Binder, DK; Lamy, M; Axford, M; Erickson, CA. Neocortical localization and thalamocortical modulation of neuronal hyperexcitability contribute to Fragile X Syndrome. Communications Biology. 2022; 5(1):442.

Shaffer, R; Thurman, AJ; Ronco, L; Cadavid, D; Raines, S; Kim, SH. Social communication in fragile X syndrome: pilot examination of the Brief Observation of Social Communication Change (BOSCC). Journal of Neurodevelopmental Disorders. 2022; 14(1):4.

White, LC; Law, JK; Daniels, AM; Toroney, J; Vernoia, B; Xiao, S; Feliciano, P; Chung, WK. Brief Report: Impact of COVID-19 on Individuals with ASD and Their Caregivers: A Perspective from the SPARK Cohort. Journal of Autism and Developmental Disorders. 2021; 51(10):3766-3773.

Esbensen, AJ; Hoffman, EK; Shaffer, RC; Patel, LR; Jacola, LM. Relationship Between Parent and Teacher Reported Executive Functioning and Maladaptive Behaviors in Children With Down Syndrome. American Journal on Intellectual and Developmental Disabilities. 2021; 126(4):307-323.

Smith, EG; Pedapati, EV; Liu, R; Schmitt, LM; Dominick, KC; Shaffer, RC; Sweeney, JA; Erickson, CA. Sex differences in resting EEG power in Fragile X Syndrome. Journal of Psychiatric Research. 2021; 138:89-95.

Bal, VH; Wilkinson, E; White, LC; Law, JK; Feliciano, P; Chung, WK. Early Pandemic Experiences of Autistic Adults: Predictors of Psychological Distress. Autism Research. 2021; 14(6):1209-1219.

Wallis, KE; Mulé, C; Mittal, S; Cerda, N; Shaffer, R; Scott, A; Langkamp, D; Augustyn, M; Perrin, E; Soares, N; Blum, NJ. Use of Telehealth in Fellowship-Affiliated Developmental Behavioral Pediatric Practices During the COVID-19 Pandemic. Journal of Developmental and Behavioral Pediatrics. 2021; 42(4):314-321.

Gillentine, MA; Wang, T; Hoekzema, K; Rosenfeld, J; Liu, P; Guo, H; Kim, CN; De Vries, BBA; Vissers, LELM; Nordenskjold, M; Earl, RK; Nowakowski, T; Bernier, RA; Eichler, EE. Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders. Genome Medicine. 2021; 13(1):63.

Wink, LK; Reisinger, DL; Horn, P; Shaffer, RC; O'brien, K; Schmitt, L; Dominick, KR; Pedapati, EV; Erickson, CA. Brief Report: Intranasal Ketamine in Adolescents and Young Adults with Autism Spectrum Disorder-Initial Results of a Randomized, Controlled, Crossover, Pilot Study. Journal of Autism and Developmental Disorders. 2021; 51(4):1392-1399.

Yurkovic, JR; Lisandrelli, G; Shaffer, RC; Dominick, KC; Pedapati, EV; Erickson, CA; Kennedy, DP; Yu, C. Using head-mounted eye tracking to examine visual and manual exploration during naturalistic toy play in children with and without autism spectrum disorder. Scientific Reports. 2021; 11(1):3578.

Conner, CM; Golt, J; Shaffer, R; Righi, G; Siegel, M; Mazefsky, CA. Emotion Dysregulation is Substantially Elevated in Autism Compared to the General Population: Impact on Psychiatric Services. Autism Research. 2021; 14(1):169-181.

Beversdorf, DQ; Sohl, K; Levitskiy, D; Tennant, P; Goin-Kochel, RP; Shaffer, RC; Confair, A; Middleton, FA; Hicks, SD. Saliva RNA Biomarkers of Gastrointestinal Dysfunction in Children With Autism and Neurodevelopmental Disorders: Potential Implications for Precision Medicine. Frontiers in Psychiatry. 2021; 12:824933.