CNVs: Harbinger of a Rare Variant Revolution in Psychiatric Genetics

par Malhotra, Dheeraj, Sebat, Jonathan
Publié 2012

forestSV: structural variant discovery through statistical learning

par Michaelson, Jacob J., Sebat, Jonathan
Publié 2012

The effects of common structural variants on 3D chromatin structure

par Shanta, Omar, Noor, Amina, Sebat, Jonathan
Publié dans BMC Genomics (2020)

SV(2): accurate structural variation genotyping and de novo mutation detection from whole genomes

par Antaki, Danny, Brandler, William M, Sebat, Jonathan
Publié dans Bioinformatics (2018)

Metagenomic Profiling: Microarray Analysis of an Environmental Genomic Library

par Sebat, Jonathan L., Colwell, Frederick S., Crawford, Ronald L.
Publié 2003

Getting to the cores of autism

par Sebat, Jonathan, Muotri, Alysson R., Iakoucheva, Lilia M.
Publié dans Cell (2019)

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

par Sebat, Jonathan, Levy, Deborah L., McCarthy, Shane E.
Publié 2009

Sensitive and accurate detection of copy number variants using read depth of coverage

par Yoon, Seungtai, Xuan, Zhenyu, Makarov, Vladimir, Ye, Kenny, Sebat, Jonathan
Publié 2009

Computing Power and Sample Size for Case-Control Association Studies with Copy Number Polymorphism: Application of Mixture-Based Likelihood Ratio Test

par Kim, Wonkuk, Gordon, Derek, Sebat, Jonathan, Ye, Kenny Q., Finch, Stephen J.
Publié 2008

Distribution of short paired duplications in mammalian genomes

par Thomas, Elizabeth E., Srebro, Nathan, Sebat, Jonathan, Navin, Nicholas, Healy, John, Mishra, Bud, Wigler, Michael
Publié 2004

Inferring Haplotypes of Copy Number Variations From High-Throughput Data With Uncertainty

par Kato, Mamoru, Yoon, Seungtai, Hosono, Naoya, Leotta, Anthony, Sebat, Jonathan, Tsunoda, Tatsuhiko, Zhang, Michael Q.
Publié 2011

Ranking of non-coding pathogenic variants and putative essential regions of the human genome

par Wells, Alex, Heckerman, David, Torkamani, Ali, Yin, Li, Sebat, Jonathan, Ren, Bing, Telenti, Amalio, di Iulio, Julia
Publié dans Nat Commun (2019)

Reduced NMDAR1 expression in the Sp4 hypomorphic mouse may contribute to endophenotypes of human psychiatric disorders

par Zhou, Xianjin, Nie, Zhiguo, Roberts, Amanda, Zhang, Dongxian, Sebat, Jonathan, Malhotra, Dheeraj, Kelsoe, John R., Geyer, Mark A.
Publié 2010

Differential Relationship of DNA Replication Timing to Different Forms of Human Mutation and Variation

par Koren, Amnon, Polak, Paz, Nemesh, James, Michaelson, Jacob J., Sebat, Jonathan, Sunyaev, Shamil R., McCarroll, Steven A.
Publié 2012

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

par Lin, Guan Ning, Corominas, Roser, Lemmens, Irma, Yang, Xinping, Tavernier, Jan, Hill, David E., Vidal, Marc, Sebat, Jonathan, Iakoucheva, Lilia M.
Publié dans Neuron (2015)

Joint contributions of rare CNVs and common SNPs to risk for schizophrenia

par Bergen, Sarah E., Ploner, Alexander, Howrigan, Daniel, O’Donovan, Michael C., Smoller, Jordan W., Sullivan, Patrick F., Sebat, Jonathan, Neale, Benjamin, Kendler, Kenneth S.
Publié dans Am J Psychiatry (2018)

Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genome

par Pagel, Kymberleigh A., Antaki, Danny, Lian, AoJie, Mort, Matthew, Cooper, David N., Sebat, Jonathan, Iakoucheva, Lilia M., Mooney, Sean D., Radivojac, Predrag
Publié dans PLoS Comput Biol (2019)

A unified genetic theory for sporadic and inherited autism

par Zhao, Xiaoyue, Leotta, Anthony, Kustanovich, Vlad, Lajonchere, Clara, Geschwind, Daniel H., Law, Kiely, Law, Paul, Qiu, Shanping, Lord, Catherine, Sebat, Jonathan, Ye, Kenny, Wigler, Michael
Publié 2007

When loss-of-function is loss of function: assessing mutational signatures and impact of loss-of-function genetic variants

par Pagel, Kymberleigh A, Pejaver, Vikas, Lin, Guan Ning, Nam, Hyun-Jun, Mort, Matthew, Cooper, David N, Sebat, Jonathan, Iakoucheva, Lilia M, Mooney, Sean D, Radivojac, Predrag
Publié dans Bioinformatics (2017)

Modeling schizophrenia using hiPSC neurons

par Brennand, Kristen, Simone, Anthony, Jou, Jessica, Gelboin-Burkhart, Chelsea, Tran, Ngoc, Sangar, Sarah, Li, Yan, Mu, Yangling, Chen, Gong, Yu, Diana, McCarthy, Shane, Sebat, Jonathan, Gage, Fred H.
Publié 2011