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Human Molecular Genetics|May 24, 2007
Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathwaysYuhei Nishimura, Christa L Martin, Araceli Vazquez-Lopez, et al.Frontiers in Neuroscience|February 23, 2023
Integration of structural MRI and epigenetic analyses hint at linked cellular defects of the subventricular zone and insular cortex in autism: Findings from a case studyEmi Takahashi, Nina Allan, Rafael Peres, et al.American Journal of Medical Genetics. Part A|July 14, 2016
16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohortKyle J Steinman, Sarah J Spence, Melissa B Ramocki, et al.Neurology. Genetics|December 19, 2022
Clinical Characteristics of Seizures and Epilepsy in Individuals With Recurrent Deletions and Duplications in the 16p11.2 RegionChristelle Moufawad El Achkar, Alyssa Rosen, Sudha Kilaru Kessler, et al.American Journal of Medical Genetics. Part A|November 6, 2025
The Detection of Down Syndrome Arthritis in Clinical Practice: A Multicenter, International Pilot and Feasibility Study of a Down Syndrome-Specific Musculoskeletal Screening ToolJordan T Jones, Nasreen Talib, Emily Cramer, et al.Academic Pediatrics|November 4, 2023
Impairment Types and Combinations Among Adolescents and Young Adults with Disabilities: Colorado 2014-2018Alyna T Chien, Sarah J Spence, Megumi J Okumura, et al.Journal of Global Health|August 6, 2022
Differences in clinical presentation, severity, and treatment of COVID-19 among individuals with Down syndrome from India and high-income countries: Data from the Trisomy 21 Research Society surveyHalder Pinku, Anke Hüls, Patrick T Feany, et al.American Journal of Human Genetics|September 19, 2003
A genomewide screen of 345 families for autism-susceptibility lociAmanda L Yonan, Maricela Alarcón, Rong Cheng, et al.Epilepsia|February 8, 2014
A survey of seizures and current treatments in 15q duplication syndromeKerry D Conant, Brenda Finucane, Nicole Cleary, et al.NPJ Vaccines|May 19, 2026
Vaccination in individuals with Down syndrome: immune vulnerability, safety, efficacy and opportunitiesBernard Khor, Noemi A Spinazzi, Lina R Patel, et al.Pageof 6