Sebat, Jonathan

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

Genomic variations and chromosomal abnormalitiesAutism Spectrum Disorder Research

Cited by 2,795

Large-scale copy number polymorphism in the human genome

Sebat, J., Lakshmi, B., Troge, J., Alexander, J., Young, J., Lundin, P., Månér, S., Massa, H., Walker, M., Chi, M., et al. (2004) · Science

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 2,557

An integrated map of structural variation in 2,504 human genomes

Sudmant, P. H., Rausch, T., Gardner, E. J., Handsaker, R. E., Abyzov, A., Huddleston, J., Zhang, Y., Ye, K., Jun, G., Hsi-Yang Fritz, M., et al. (2015) · Nature

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 2,354

Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia

Walsh, T., McClellan, J. M., McCarthy, S. E., Addington, A. M., Pierce, S. B., Cooper, G. M., Nord, A. S., Kusenda, M., Malhotra, D., Bhandari, A., et al. (2008) · Science

Genomic variations and chromosomal abnormalitiesSchizophrenia research and treatment

Cited by 1,800

Modelling schizophrenia using human induced pluripotent stem cells

Brennand, K. J., Simone, A., Jou, J., Gelboin-Burkhart, C., Tran, N., Sangar, S., Li, Y., Mu, Y., Chen, G., Yu, D., et al. (2011) · Nature

Pluripotent Stem Cells ResearchSchizophrenia research and treatment

Cited by 1,375

Mapping copy number variation by population-scale genome sequencing

1000 Genomes Project, Mills, R. E., Walter, K., Stewart, C., Handsaker, R. E., Chen, K., Alkan, C., Abyzov, A., Yoon, S. C., Ye, K., et al. (2011) · Nature

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 1,140

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

Marshall, C. R., Howrigan, D. P., Merico, D., Thiruvahindrapuram, B., Wu, W., Greer, D. S., Antaki, D., Shetty, A., Holmans, P. A., Pinto, D., et al. (2017) · Nature Genetics

Genomic variations and chromosomal abnormalitiesSchizophrenia research and treatment

Cited by 1,058

Inferring the molecular and phenotypic impact of amino acid variants with MutPred2

Pejaver, V., Urresti, J., Lugo-Martinez, J., Pagel, K. A., Lin, G. N., Nam, H.-J., Mort, M., Cooper, D. N., Sebat, J., Iakoucheva, L. M., et al. (2020) · Nature Communications

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 923

Multi-platform discovery of haplotype-resolved structural variation in human genomes

Chaisson, M. J. P., Sanders, A. D., Zhao, X., Malhotra, A., Porubsky, D., Rausch, T., Gardner, E. J., Rodriguez, O. L., Guo, L., Collins, R. L., et al. (2019) · Nature Communications

Genomic variations and chromosomal abnormalitiesGenomics and Phylogenetic Studies

Cited by 891

CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics

Malhotra, D., & Sebat, J. (2012) · Cell

Genomic variations and chromosomal abnormalitiesGenetic Associations and Epidemiology

Cited by 854

Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene

Alarcón, M., Abrahams, B. S., Stone, J. L., Duvall, J. A., Perederiy, J. V., Bomar, J. M., Sebat, J., Wigler, M., Martin, C. L., Ledbetter, D. H., et al. (2008) · The American Journal of Human Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 818

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

Mefford, H. C., Sharp, A. J., Baker, C., Itsara, A., Jiang, Z., Buysse, K., Huang, S., Maloney, V. K., Crolla, J. A., Baralle, D., et al. (2008) · New England Journal of Medicine

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 804

Microduplications of 16p11.2 are associated with schizophrenia

Wellcome Trust Case Control Consortium, McCarthy, S. E., Makarov, V., Kirov, G., Addington, A. M., McClellan, J., Yoon, S., Perkins, D. O., Dickel, D. E., Kusenda, M., et al. (2009) · Nature Genetics

Genomic variations and chromosomal abnormalitiesSchizophrenia research and treatment

Cited by 711

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

Girirajan, S., Rosenfeld, J. A., Cooper, G. M., Antonacci, F., Siswara, P., Itsara, A., Vives, L., Walsh, T., McCarthy, S. E., Baker, C., et al. (2010) · Nature Genetics

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 667

Whole-Genome Sequencing in Autism Identifies Hot Spots for De Novo Germline Mutation

Michaelson, J. J., Shi, Y., Gujral, M., Zheng, H., Malhotra, D., Jin, X., Jian, M., Liu, G., Greer, D., Bhandari, A., et al. (2012) · Cell

Autism Spectrum Disorder ResearchGenomic variations and chromosomal abnormalities

Cited by 544

Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia

Vacic, V., McCarthy, S., Malhotra, D., Murray, F., Chou, H.-H., Peoples, A., Makarov, V., Yoon, S., Bhandari, A., Corominas, R., et al. (2011) · Nature

Schizophrenia research and treatmentGenomic variations and chromosomal abnormalities

Cited by 337

High frequencies of de novo CNVs in bipolar disorder and schizophrenia

Malhotra, D., McCarthy, S., Michaelson, J. J., Vacic, V., Burdick, K. E., Yoon, S., Cichon, S., Corvin, A., Gary, S., Gershon, E. S., et al. (2011) · Neuron

Genomic variations and chromosomal abnormalitiesBipolar Disorder and Treatment

Cited by 325

A unified genetic theory for sporadic and inherited autism

Zhao, X., Leotta, A., Kustanovich, V., Lajonchere, C., Geschwind, D. H., Law, K., Law, P., Qiu, S., Lord, C., Sebat, J., et al. (2007) · Proceedings of the National Academy of Sciences

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 319

Getting to the cores of autism

Iakoucheva, L. M., Muotri, A. R., & Sebat, J. (2019) · Cell

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 260

Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders

Sebat, J., Levy, D. L., & McCarthy, S. E. (2009) · Trends in Genetics

Genomic variations and chromosomal abnormalitiesSchizophrenia research and treatment

Cited by 260

Paternally inherited cis-regulatory structural variants are associated with autism

Brandler, W. M., Antaki, D., Gujral, M., Kleiber, M. L., Whitney, J., Maile, M. S., Hong, O., Chapman, T. R., Tan, S., Tandon, P., et al. (2018) · Science

Autism Spectrum Disorder ResearchGenomic variations and chromosomal abnormalities

Cited by 209

A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex

Antaki, D., Guevara, J., Maihofer, A. X., Klein, M., Gujral, M., Grove, J., Carey, C. E., Hong, O., Arranz, M. J., Hervas, A., et al. (2022) · Nature Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 206

Joint Contributions of Rare Copy Number Variants and Common SNPs to Risk for Schizophrenia

Bergen, S. E., Ploner, A., Howrigan, D., CNV Analysis Group and the Schizophrenia Working Group of the Psychiatric Genomics Consortium, O’Donovan, M. C., Smoller, J. W., Sullivan, P. F., Sebat, J., Neale, B., & Kendler, K. S. (2019) · American Journal of Psychiatry

Schizophrenia research and treatmentGenomic variations and chromosomal abnormalities

Cited by 171

Spatiotemporal 16p11.2 protein network implicates cortical late mid-fetal brain development and KCTD13-Cul3-RhoA pathway in psychiatric diseases

Lin, G. N., Corominas, R., Lemmens, I., Yang, X., Tavernier, J., Hill, D. E., Vidal, M., Sebat, J., & Iakoucheva, L. M. (2015) · Neuron

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 155