Spence, Sarah J.

Strong association of de novo copy number mutations with autism

Sebat, J., Lakshmi, B., Malhotra, D., Troge, J., Lese-Martin, C., Walsh, T., Yamrom, B., Yoon, S., Krasnitz, A., Kendall, J., et al. (2007) · Science

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Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

C Yuen, R. K., Merico, D., Bookman, M., L Howe, J., Thiruvahindrapuram, B., Patel, R. V., Whitney, J., Deflaux, N., Bingham, J., Wang, Z., et al. (2017) · Nature Neuroscience

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

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The Co-Morbidity Burden of Children and Young Adults with Autism Spectrum Disorders

Kohane, I. S., McMurry, A., Weber, G., MacFadden, D., Rappaport, L., Kunkel, L., Bickel, J., Wattanasin, N., Spence, S., Murphy, S., et al. (2012) · PLoS ONE

Autism Spectrum Disorder ResearchChild Nutrition and Feeding Issues

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The role of epilepsy and epileptiform EEGs in autism spectrum disorders

Spence, S. J., & Schneider, M. T. (2009) · Pediatric Research

Autism Spectrum Disorder ResearchEpilepsy research and treatment

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A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

Zufferey, F., Sherr, E. H., Beckmann, N. D., Hanson, E., Maillard, A. M., Hippolyte, L., Macé, A., Ferrari, C., Kutalik, Z., Andrieux, J., et al. (2012) · Journal of Medical Genetics

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The Autism Genetic Resource Exchange: A Resource for the Study of Autism and Related Neuropsychiatric Conditions

Geschwind, D. H., Sowinski, J., Lord, C., Iversen, P., Shestack, J., Jones, P., Ducat, L., & Spence, S. J. (2001) · The American Journal of Human Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

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Defining the effect of the 16p11.2 duplication on cognition, behavior, and medical comorbidities

D’Angelo, D., Lebon, S., Chen, Q., Martin-Brevet, S., Snyder, L. G., Hippolyte, L., Hanson, E., Maillard, A. M., Faucett, W. A., Macé, A., et al. (2016) · JAMA Psychiatry

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Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways †

Nishimura, Y., Martin, C. L., Vazquez-Lopez, A., Spence, S. J., Alvarez-Retuerto, A. I., Sigman, M., Steindler, C., Pellegrini, S., Schanen, N. C., Warren, S. T., et al. (2007) · Human Molecular Genetics

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

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Clinical characteristics of children with autism spectrum disorder and co-occurring epilepsy.

Viscidi, E. W., Triche, E. W., Pescosolido, M. F., McLean, R. L., Joseph, R. M., Spence, S. J., & Morrow, E. M. (2013) · PLoS ONE

Autism Spectrum Disorder ResearchEpilepsy research and treatment

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16p11.2 deletion and duplication: characterizing neurologic phenotypes in a large clinically ascertained cohort

Steinman, K. J., Spence, S. J., Ramocki, M. B., Proud, M. B., Kessler, S. K., Marco, E. J., Green Snyder, L., D'Angelo, D., Chen, Q., Chung, W. K., et al. (2016) · American Journal of Medical Genetics Part A

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

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Neurometabolic disorders and dysfunction in autism spectrum disorders

Zecavati, N., & Spence, S. J. (2009) · Current Neurology and Neuroscience Reports

Autism Spectrum Disorder ResearchMetabolism and Genetic Disorders

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The association between epilepsy and autism symptoms and maladaptive behaviors in children with autism spectrum disorder

Viscidi, E. W., Johnson, A. L., Spence, S. J., Buka, S. L., Morrow, E. M., & Triche, E. W. (2014) · Autism

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Commentary from the DSM-5 Workgroup on Neurodevelopmental Disorders

Swedo, S. E., Baird, G., Cook, E. H., Happé, F. G., Harris, J. C., Kaufmann, W. E., King, B. H., Lord, C. E., Piven, J., Rogers, S. J., et al. (2012) · Journal of the American Academy of Child & Adolescent Psychiatry

Autism Spectrum Disorder ResearchChild Nutrition and Feeding Issues

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