Sanders, Stephan J.

Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population

iPSYCH-SSI-Broad Autism Group, Robinson, E. B., St Pourcain, B., Anttila, V., Kosmicki, J. A., Bulik-Sullivan, B., Grove, J., Maller, J., Samocha, K. E., Sanders, S. J., et al. (2016) · Nature Genetics

Autism Spectrum Disorder ResearchGenetic Associations and Epidemiology

Cited by 367

The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment

Cotney, J., Muhle, R. A., Sanders, S. J., Liu, L., Willsey, A. J., Niu, W., Liu, W., Klei, L., Lei, J., Yin, J., et al. (2015) · Nature Communications

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 350

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples

Kosmicki, J. A., Samocha, K. E., Howrigan, D. P., Sanders, S. J., Slowikowski, K., Lek, M., Karczewski, K. J., Cutler, D. J., Devlin, B., Roeder, K., et al. (2017) · Nature Genetics

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 340

Progress in Understanding and Treating SCN2A-Mediated Disorders

Sanders, S. J., Campbell, A. J., Cottrell, J. R., Moller, R. S., Wagner, F. F., Auldridge, A. L., Bernier, R. A., Catterall, W. A., Chung, W. K., Empfield, J. R., et al. (2018) · Trends in Neurosciences

Epilepsy research and treatmentIon channel regulation and function

Cited by 338

Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia

Moreno-De-Luca, D., Mulle, J. G., Kaminsky, E. B., Sanders, S. J., Myers, S. M., Adam, M. P., Pakula, A. T., Eisenhauer, N. J., Uhas, K., Weik, L., et al. (2010) · The American Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesAutism Spectrum Disorder Research

Cited by 324

Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy

Novarino, G., El-Fishawy, P., Kayserili, H., Meguid, N. A., Scott, E. M., Schroth, J., Silhavy, J. L., Kara, M., Khalil, R. O., Ben-Omran, T., et al. (2012) · Science

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 320

Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder

An, J.-Y., Lin, K., Zhu, L., Werling, D. M., Dong, S., Brand, H., Wang, H. Z., Zhao, X., Schwartz, G. B., Collins, R. L., et al. (2018) · Science

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 316

Integrated Model of De Novo and Inherited Genetic Variants Yields Greater Power to Identify Risk Genes

He, X., Sanders, S. J., Liu, L., De Rubeis, S., Lim, E. T., Sutcliffe, J. S., Schellenberg, G. D., Gibbs, R. A., Daly, M. J., Buxbaum, J. D., et al. (2013) · PLoS Genetics

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 304

An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder

Werling, D. M., Brand, H., An, J.-Y., Stone, M. R., Zhu, L., Glessner, J. T., Collins, R. L., Dong, S., Layer, R. M., Markenscoff-Papadimitriou, E., et al. (2018) · Nature Genetics

Autism Spectrum Disorder ResearchGenetic Associations and Epidemiology

Cited by 293

Opposing Effects on Na V 1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism Spectrum Disorder or Infantile Seizures

Ben-Shalom, R., Keeshen, C. M., Berrios, K. N., An, J. Y., Sanders, S. J., & Bender, K. J. (2017) · Biological Psychiatry

Ion channel regulation and functionAutism Spectrum Disorder Research

Cited by 288

Increased Frequency of De Novo Copy Number Variants in Congenital Heart Disease by Integrative Analysis of Single Nucleotide Polymorphism Array and Exome Sequence Data

Glessner, J. T., Bick, A. G., Ito, K., Homsy, J. G., Rodriguez-Murillo, L., Fromer, M., Mazaika, E., Vardarajan, B., Italia, M., Leipzig, J., et al. (2014) · Circulation Research

Genomic variations and chromosomal abnormalitiesCongenital heart defects research

Cited by 268

Rare Complete Knockouts in Humans: Population Distribution and Significant Role in Autism Spectrum Disorders

Lim, E. T., Raychaudhuri, S., Sanders, S. J., Stevens, C., Sabo, A., MacArthur, D. G., Neale, B. M., Kirby, A., Ruderfer, D. M., Fromer, M., et al. (2013) · Neuron

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 266

The Autism-Associated Gene Scn2a Contributes to Dendritic Excitability and Synaptic Function in the Prefrontal Cortex

Spratt, P. W. E., Ben-Shalom, R., Keeshen, C. M., Burke, K. J., Clarkson, R. L., Sanders, S. J., & Bender, K. J. (2019) · Neuron

Ion channel regulation and functionGenetics and Neurodevelopmental Disorders

Cited by 244

Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons

Griesi-Oliveira, K., Acab, A., Gupta, A. R., Sunaga, D. Y., Chailangkarn, T., Nicol, X., Nunez, Y., Walker, M. F., Murdoch, J. D., Sanders, S. J., et al. (2015) · Molecular Psychiatry

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 236

Genotype to phenotype relationships in autism spectrum disorders

Chang, J., Gilman, S. R., Chiang, A. H., Sanders, S. J., & Vitkup, D. (2015) · Nature Neuroscience

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 197

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

Küry, S., van Woerden, G. M., Besnard, T., Proietti Onori, M., Latypova, X., Towne, M. C., Cho, M. T., Prescott, T. E., Ploeg, M. A., Sanders, S., et al. (2017) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 185

Genome-wide Transcriptome Profiling Reveals the Functional Impact of Rare De Novo and Recurrent CNVs in Autism Spectrum Disorders

Luo, R., Sanders, S. J., Tian, Y., Voineagu, I., Huang, N., Chu, S. H., Klei, L., Cai, C., Ou, J., Lowe, J. K., et al. (2012) · The American Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesAutism Spectrum Disorder Research

Cited by 167

Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts

Moreno-De-Luca, D., Sanders, S. J., Willsey, A. J., Mulle, J. G., Lowe, J. K., Geschwind, D. H., State, M. W., Martin, C. L., & Ledbetter, D. H. (2013) · Molecular Psychiatry

Genomic variations and chromosomal abnormalitiesAutism Spectrum Disorder Research

Cited by 161

A Genome-wide Association Study of Autism Using the Simons Simplex Collection: Does Reducing Phenotypic Heterogeneity in Autism Increase Genetic Homogeneity?

Chaste, P., Klei, L., Sanders, S. J., Hus, V., Murtha, M. T., Lowe, J. K., Willsey, A. J., Moreno-De-Luca, D., Yu, T. W., Fombonne, E., et al. (2015) · Biological Psychiatry

Autism Spectrum Disorder ResearchGenetic Associations and Epidemiology

Cited by 144

A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism

Celestino-Soper, P. B. S., Violante, S., Crawford, E. L., Luo, R., Lionel, A. C., Delaby, E., Cai, G., Sadikovic, B., Lee, K., Lo, C., et al. (2012) · Proceedings of the National Academy of Sciences

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 139

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, F. K., et al. (2021) · Cell Genomics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 124

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, F. K., et al. (2022) · Cell Genomics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 124

De novo disruption of the proteasome regulatory subunit PSMD12 causes a syndromic neurodevelopmental disorder

Küry, S., Besnard, T., Ebstein, F., Khan, T. N., Gambin, T., Douglas, J., Bacino, C. A., Craigen, W. J., Sanders, S. J., Lehmann, A., et al. (2017) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersUbiquitin and proteasome pathways

Cited by 110

Frequency and complexity of de novo structural mutation in autism

Brandler, W. M., Antaki, D., Gujral, M., Noor, A., Rosanio, G., Chapman, T. R., Barrera, D. J., Lin, G. N., Malhotra, D., Watts, A. C., et al. (2016) · The American Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesAutism Spectrum Disorder Research

Cited by 104