CNVs: Harbinger of a Rare Variant Revolution in Psychiatric Genetics

por Malhotra, Dheeraj, Sebat, Jonathan
Publicado em 2012

forestSV: structural variant discovery through statistical learning

por Michaelson, Jacob J., Sebat, Jonathan
Publicado em 2012

The effects of common structural variants on 3D chromatin structure

por Shanta, Omar, Noor, Amina, Sebat, Jonathan
Publicado no BMC Genomics (2020)

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

por Antaki, Danny, Brandler, William M, Sebat, Jonathan
Publicado no Bioinformatics (2018)

Metagenomic Profiling: Microarray Analysis of an Environmental Genomic Library

por Sebat, Jonathan L., Colwell, Frederick S., Crawford, Ronald L.
Publicado em 2003

Getting to the cores of autism

por Sebat, Jonathan, Muotri, Alysson R., Iakoucheva, Lilia M.
Publicado no Cell (2019)

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

por Sebat, Jonathan, Levy, Deborah L., McCarthy, Shane E.
Publicado em 2009

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

por Yoon, Seungtai, Xuan, Zhenyu, Makarov, Vladimir, Ye, Kenny, Sebat, Jonathan
Publicado em 2009

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

por Kim, Wonkuk, Gordon, Derek, Sebat, Jonathan, Ye, Kenny Q., Finch, Stephen J.
Publicado em 2008

Distribution of short paired duplications in mammalian genomes

por Thomas, Elizabeth E., Srebro, Nathan, Sebat, Jonathan, Navin, Nicholas, Healy, John, Mishra, Bud, Wigler, Michael
Publicado em 2004

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

por Kato, Mamoru, Yoon, Seungtai, Hosono, Naoya, Leotta, Anthony, Sebat, Jonathan, Tsunoda, Tatsuhiko, Zhang, Michael Q.
Publicado em 2011

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

por Wells, Alex, Heckerman, David, Torkamani, Ali, Yin, Li, Sebat, Jonathan, Ren, Bing, Telenti, Amalio, di Iulio, Julia
Publicado no Nat Commun (2019)

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

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

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

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

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

por Lin, Guan Ning, Corominas, Roser, Lemmens, Irma, Yang, Xinping, Tavernier, Jan, Hill, David E., Vidal, Marc, Sebat, Jonathan, Iakoucheva, Lilia M.
Publicado no Neuron (2015)

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

por Bergen, Sarah E., Ploner, Alexander, Howrigan, Daniel, O’Donovan, Michael C., Smoller, Jordan W., Sullivan, Patrick F., Sebat, Jonathan, Neale, Benjamin, Kendler, Kenneth S.
Publicado no Am J Psychiatry (2018)

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

por Pagel, Kymberleigh A., Antaki, Danny, Lian, AoJie, Mort, Matthew, Cooper, David N., Sebat, Jonathan, Iakoucheva, Lilia M., Mooney, Sean D., Radivojac, Predrag
Publicado no PLoS Comput Biol (2019)

A unified genetic theory for sporadic and inherited autism

por 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
Publicado em 2007

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

por 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
Publicado no Bioinformatics (2017)

Modeling schizophrenia using hiPSC neurons

por 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.
Publicado em 2011