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Jonathan Sebat

Title(s)Adjunct Professor, Pediatrics
SchoolHealth Sciences
Address9500 Gilman Drive #0667
La Jolla CA 92093
Phone858-534-6526
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    Research Interests

    Large-scale differences in gene copy number, known as copy number variants (CNVs), are a significant source of genetic variation and an important contributor to disease risk in humans. Our laboratory is interested in how CNVs and other variation within in the human genome contribute to mental illness. Our goal is to identify genes related to psychiatric disorders and to determine how genetic variants impact the function of genes and corresponding cellular pathways.

    Our experimental approach is to use high-resolution microarray platforms to screen the genomes of patients for CNVs and to test the association of these genetic variants with disease in families and in cohorts of patients and healthy controls. Findings from several studies support a role for CNVs in autism, schizophrenia and bipolar disorder. In addition, multiple genomic regions have been identified that harbor rare mutations that substantially increase disease risk.
    We are interested in further understanding the functional and phenotypic consequences of these mutations in humans. CNVs that result in the disruption of a single gene may produce an altered transcript. Larger rearrangements that alter the dosage of multiple genes may result in altered levels of gene expression. We study these processes experimentally in human cells. By understanding the biological processes related to psychiatric disorders and by characterizing how these processes are disrupted in humans, we hope to enhance the diagnosis and treatment of patients.

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    Collapse Research Activities and Funding
    Expanding the accessible genetic architecture of autism by single molecule sequencing
    NIH/NIMH R01MH113715Oct 1, 2019 - May 31, 2022
    Role: Principal Investigator
    4/9: Dissecting the effects of genomic variants on neurobehavioral dimensions in CNVs enriched for neuropsychiatric disorders
    NIH/NIMH U01MH119746Jun 20, 2019 - Mar 31, 2024
    Role: Principal Investigator
    Personalized treatment of cognitive deficits associated with deletion of CACNG2
    NIH/NIMH R21MH113179Aug 1, 2017 - Jul 31, 2019
    Role: Principal Investigator
    4/7 Psychiatric Genomics Consortium: Finding actionable variation
    NIH/NIMH U01MH109501Jul 1, 2016 - Mar 31, 2021
    Role: Principal Investigator
    The Role of Germline Mutation and Parental Age in Autism Spectrum Disorders
    NIH/NIMH R01MH076431Sep 1, 2014 - Jul 31, 2011
    Role: Principal Investigator
    3/4-Psychiatric GWAS Consortium: Genomic Follow-Up Next-Gen Sequencing &Genotypi
    NIH/NIMH U01MH094411May 10, 2012 - Mar 31, 2016
    Role: Principal Investigator
    High-Resolution ROMA Analysis of Genome Copy Number Variation in the HapMap
    NIH/NHGRI P41HG004222Jul 14, 2010 - Mar 31, 2011
    Role: Principal Investigator

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    Collapse Publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help. to make corrections and additions.
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    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Identifying schizophrenia patients who carry pathogenic genetic copy number variants using standard clinical assessment: retrospective cohort study. Br J Psychiatry. 2020 May; 216(5):275-279. Foley C, Heron EA, Harold D, Walters J, Owen M, O'Donovan M, Sebat J, Kelleher E, Mooney C, Durand A, Pinto C, Cormican P, Morris D, Donohoe G, Gill M, Gallagher L, Corvin A. PMID: 31964429.
      View in: PubMed   Mentions:    Fields:    
    2. The effects of common structural variants on 3D chromatin structure. BMC Genomics. 2020 Jan 30; 21(1):95. Shanta O, Noor A, Sebat J. PMID: 32000688.
      View in: PubMed   Mentions:    Fields:    
    3. Autism risk in offspring can be assessed through quantification of male sperm mosaicism. Nat Med. 2020 01; 26(1):143-150. Breuss MW, Antaki D, George RD, Kleiber M, James KN, Ball LL, Hong O, Mitra I, Yang X, Wirth SA, Gu J, Garcia CAB, Gujral M, Brandler WM, Musaev D, Nguyen A, McEvoy-Venneri J, Knox R, Sticca E, Botello MCC, Uribe Fenner J, Pérez MC, Arranz M, Moffitt AB, Wang Z, Hervás A, Devinsky O, Gymrek M, Sebat J, Gleeson JG. PMID: 31873310.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    4. Common DNA sequence variation influences 3-dimensional conformation of the human genome. Genome Biol. 2019 11 28; 20(1):255. Gorkin DU, Qiu Y, Hu M, Fletez-Brant K, Liu T, Schmitt AD, Noor A, Chiou J, Gaulton KJ, Sebat J, Li Y, Hansen KD, Ren B. PMID: 31779666.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    5. Ranking of non-coding pathogenic variants and putative essential regions of the human genome. Nat Commun. 2019 11 20; 10(1):5241. Wells A, Heckerman D, Torkamani A, Yin L, Sebat J, Ren B, Telenti A, di Iulio J. PMID: 31748530.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    6. Oligogenic Effects of 16p11.2 Copy-Number Variation on Craniofacial Development. Cell Rep. 2019 09 24; 28(13):3320-3328.e4. Qiu Y, Arbogast T, Lorenzo SM, Li H, Tang SC, Richardson E, Hong O, Cho S, Shanta O, Pang T, Corsello C, Deutsch CK, Chevalier C, Davis EE, Iakoucheva LM, Herault Y, Katsanis N, Messer K, Sebat J. PMID: 31553903.
      View in: PubMed   Mentions: 2     Fields:    
    7. A framework for the investigation of rare genetic disorders in neuropsychiatry. Nat Med. 2019 10; 25(10):1477-1487. Sanders SJ, Sahin M, Hostyk J, Thurm A, Jacquemont S, Avillach P, Douard E, Martin CL, Modi ME, Moreno-De-Luca A, Raznahan A, Anticevic A, Dolmetsch R, Feng G, Geschwind DH, Glahn DC, Goldstein DB, Ledbetter DH, Mulle JG, Pasca SP, Samaco R, Sebat J, Pariser A, Lehner T, Gur RE, Bearden CE. PMID: 31548702.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    8. Getting to the Cores of Autism. Cell. 2019 09 05; 178(6):1287-1298. Iakoucheva LM, Muotri AR, Sebat J. PMID: 31491383.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansAnimalsCells
    9. Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genome. PLoS Comput Biol. 2019 06; 15(6):e1007112. Pagel KA, Antaki D, Lian A, Mort M, Cooper DN, Sebat J, Iakoucheva LM, Mooney SD, Radivojac P. PMID: 31199787.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    10. Targeted Treatment of Individuals With Psychosis Carrying a Copy Number Variant Containing a Genomic Triplication of the Glycine Decarboxylase Gene. Biol Psychiatry. 2019 10 01; 86(7):523-535. Bodkin JA, Coleman MJ, Godfrey LJ, Carvalho CMB, Morgan CJ, Suckow RF, Anderson T, Öngür D, Kaufman MJ, Lewandowski KE, Siegel AJ, Waldstreicher E, Grochowski CM, Javitt DC, Rujescu D, Hebbring S, Weinshilboum R, Rodriguez SB, Kirchhoff C, Visscher T, Vuckovic A, Fialkowski A, McCarthy S, Malhotra D, Sebat J, Goff DC, Hudson JI, Lupski JR, Coyle JT, Rudolph U, Levy DL. PMID: 31279534.
      View in: PubMed   Mentions: 2     Fields:    
    11. Multi-platform discovery of haplotype-resolved structural variation in human genomes. Nat Commun. 2019 04 16; 10(1):1784. Chaisson MJP, Sanders AD, Zhao X, Malhotra A, Porubsky D, Rausch T, Gardner EJ, Rodriguez OL, Guo L, Collins RL, Fan X, Wen J, Handsaker RE, Fairley S, Kronenberg ZN, Kong X, Hormozdiari F, Lee D, Wenger AM, Hastie AR, Antaki D, Anantharaman T, Audano PA, Brand H, Cantsilieris S, Cao H, Cerveira E, Chen C, Chen X, Chin CS, Chong Z, Chuang NT, Lambert CC, Church DM, Clarke L, Farrell A, Flores J, Galeev T, Gorkin DU, Gujral M, Guryev V, Heaton WH, Korlach J, Kumar S, Kwon JY, Lam ET, Lee JE, Lee J, Lee WP, Lee SP, Li S, Marks P, Viaud-Martinez K, Meiers S, Munson KM, Navarro FCP, Nelson BJ, Nodzak C, Noor A, Kyriazopoulou-Panagiotopoulou S, Pang AWC, Qiu Y, Rosanio G, Ryan M, Stütz A, Spierings DCJ, Ward A, Welch AE, Xiao M, Xu W, Zhang C, Zhu Q, Zheng-Bradley X, Lowy E, Yakneen S, McCarroll S, Jun G, Ding L, Koh CL, Ren B, Flicek P, Chen K, Gerstein MB, Kwok PY, Lansdorp PM, Marth GT, Sebat J, Shi X, Bashir A, Ye K, Devine SE, Talkowski ME, Mills RE, Marschall T, Korbel JO, Eichler EE, Lee C. PMID: 30992455.
      View in: PubMed   Mentions: 16     Fields:    Translation:Humans
    12. Joint Contributions of Rare Copy Number Variants and Common SNPs to Risk for Schizophrenia. Am J Psychiatry. 2019 01 01; 176(1):29-35. Bergen SE, Ploner A, Howrigan D, O'Donovan MC, Smoller JW, Sullivan PF, Sebat J, Neale B, Kendler KS. PMID: 30392412.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    13. SV2: accurate structural variation genotyping and de novo mutation detection from whole genomes. Bioinformatics. 2018 05 15; 34(10):1774-1777. Antaki D, Brandler WM, Sebat J. PMID: 29300834.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    14. Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes. Hum Mutat. 2018 07; 39(7):939-946. Grochowski CM, Gu S, Yuan B, Tcw J, Brennand KJ, Sebat J, Malhotra D, McCarthy S, Rudolph U, Lindstrand A, Chong Z, Levy DL, Lupski JR, Carvalho CMB. PMID: 29696747.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    15. Paternally inherited cis-regulatory structural variants are associated with autism. Science. 2018 04 20; 360(6386):327-331. Brandler WM, Antaki D, Gujral M, Kleiber ML, Whitney J, Maile MS, Hong O, Chapman TR, Tan S, Tandon P, Pang T, Tang SC, Vaux KK, Yang Y, Harrington E, Juul S, Turner DJ, Thiruvahindrapuram B, Kaur G, Wang Z, Kingsmore SF, Gleeson JG, Bisson D, Kakaradov B, Telenti A, Venter JC, Corominas R, Toma C, Cormand B, Rueda I, Guijarro S, Messer KS, Nievergelt CM, Arranz MJ, Courchesne E, Pierce K, Muotri AR, Iakoucheva LM, Hervas A, Scherer SW, Corsello C, Sebat J. PMID: 29674594.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansCells
    16. Modeling the Interplay Between Neurons and Astrocytes in Autism Using Human Induced Pluripotent Stem Cells. Biol Psychiatry. 2018 04 01; 83(7):569-578. Russo FB, Freitas BC, Pignatari GC, Fernandes IR, Sebat J, Muotri AR, Beltrão-Braga PCB. PMID: 29129319.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansCells
    17. FOXP1-related intellectual disability syndrome: a recognisable entity. J Med Genet. 2017 09; 54(9):613-623. Meerschaut I, Rochefort D, Revençu N, Pètre J, Corsello C, Rouleau GA, Hamdan FF, Michaud JL, Morton J, Radley J, Ragge N, García-Miñaúr S, Lapunzina P, Bralo MP, Mori MÁ, Moortgat S, Benoit V, Mary S, Bockaert N, Oostra A, Vanakker O, Velinov M, de Ravel TJ, Mekahli D, Sebat J, Vaux KK, DiDonato N, Hanson-Kahn AK, Hudgins L, Dallapiccola B, Novelli A, Tarani L, Andrieux J, Parker MJ, Neas K, Ceulemans B, Schoonjans AS, Prchalova D, Havlovicova M, Hancarova M, Budisteanu M, Dheedene A, Menten B, Dion PA, Lederer D, Callewaert B. PMID: 28735298.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansCells
    18. When loss-of-function is loss of function: assessing mutational signatures and impact of loss-of-function genetic variants. Bioinformatics. 2017 Jul 15; 33(14):i389-i398. Pagel KA, Pejaver V, Lin GN, Nam HJ, Mort M, Cooper DN, Sebat J, Iakoucheva LM, Mooney SD, Radivojac P. PMID: 28882004.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    19. Divergent Levels of Marker Chromosomes in an hiPSC-Based Model of Psychosis. Stem Cell Reports. 2017 03 14; 8(3):519-528. Tcw J, Carvalho CMB, Yuan B, Gu S, Altheimer AN, McCarthy S, Malhotra D, Sebat J, Siegel AJ, Rudolph U, Lupski JR, Levy DL, Brennand KJ. PMID: 28216146.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    20. Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects. Nat Genet. 2017 01; 49(1):27-35. Marshall CR, Howrigan DP, Merico D, Thiruvahindrapuram B, Wu W, Greer DS, Antaki D, Shetty A, Holmans PA, Pinto D, Gujral M, Brandler WM, Malhotra D, Wang Z, Fajarado KVF, Maile MS, Ripke S, Agartz I, Albus M, Alexander M, Amin F, Atkins J, Bacanu SA, Belliveau RA, Bergen SE, Bertalan M, Bevilacqua E, Bigdeli TB, Black DW, Bruggeman R, Buccola NG, Buckner RL, Bulik-Sullivan B, Byerley W, Cahn W, Cai G, Cairns MJ, Campion D, Cantor RM, Carr VJ, Carrera N, Catts SV, Chambert KD, Cheng W, Cloninger CR, Cohen D, Cormican P, Craddock N, Crespo-Facorro B, Crowley JJ, Curtis D, Davidson M, Davis KL, Degenhardt F, Del Favero J, DeLisi LE, Dikeos D, Dinan T, Djurovic S, Donohoe G, Drapeau E, Duan J, Dudbridge F, Eichhammer P, Eriksson J, Escott-Price V, Essioux L, Fanous AH, Farh KH, Farrell MS, Frank J, Franke L, Freedman R, Freimer NB, Friedman JI, Forstner AJ, Fromer M, Genovese G, Georgieva L, Gershon ES, Giegling I, Giusti-Rodríguez P, Godard S, Goldstein JI, Gratten J, de Haan L, Hamshere ML, Hansen M, Hansen T, Haroutunian V, Hartmann AM, Henskens FA, Herms S, Hirschhorn JN, Hoffmann P, Hofman A, Huang H, Ikeda M, Joa I, Kähler AK, Kahn RS, Kalaydjieva L, Karjalainen J, Kavanagh D, Keller MC, Kelly BJ, Kennedy JL, Kim Y, Knowles JA, Konte B, Laurent C, Lee P, Lee SH, Legge SE, Lerer B, Levy DL, Liang KY, Lieberman J, Lönnqvist J, Loughland CM, Magnusson PKE, Maher BS, Maier W, Mallet J, Mattheisen M, Mattingsdal M, McCarley RW, McDonald C, McIntosh AM, Meier S, Meijer CJ, Melle I, Mesholam-Gately RI, Metspalu A, Michie PT, Milani L, Milanova V, Mokrab Y, Morris DW, Müller-Myhsok B, Murphy KC, Murray RM, Myin-Germeys I, Nenadic I, Nertney DA, Nestadt G, Nicodemus KK, Nisenbaum L, Nordin A, O'Callaghan E, O'Dushlaine C, Oh SY, Olincy A, Olsen L, O'Neill FA, Van Os J, Pantelis C, Papadimitriou GN, Parkhomenko E, Pato MT, Paunio T, Perkins DO, Pers TH, Pietiläinen O, Pimm J, Pocklington AJ, Powell J, Price A, Pulver AE, Purcell SM, Quested D, Rasmussen HB, Reichenberg A, Reimers MA, Richards AL, Roffman JL, Roussos P, Ruderfer DM, Salomaa V, Sanders AR, Savitz A, Schall U, Schulze TG, Schwab SG, Scolnick EM, Scott RJ, Seidman LJ, Shi J, Silverman JM, Smoller JW, Söderman E, Spencer CCA, Stahl EA, Strengman E, Strohmaier J, Stroup TS, Suvisaari J, Svrakic DM, Szatkiewicz JP, Thirumalai S, Tooney PA, Veijola J, Visscher PM, Waddington J, Walsh D, Webb BT, Weiser M, Wildenauer DB, Williams NM, Williams S, Witt SH, Wolen AR, Wormley BK, Wray NR, Wu JQ, Zai CC, Adolfsson R, Andreassen OA, Blackwood DHR, Bramon E, Buxbaum JD, Cichon S, Collier DA, Corvin A, Daly MJ, Darvasi A, Domenici E, Esko T, Gejman PV, Gill M, Gurling H, Hultman CM, Iwata N, Jablensky AV, Jönsson EG, Kendler KS, Kirov G, Knight J, Levinson DF, Li QS, McCarroll SA, McQuillin A, Moran JL, Mowry BJ, Nöthen MM, Ophoff RA, Owen MJ, Palotie A, Pato CN, Petryshen TL, Posthuma D, Rietschel M, Riley BP, Rujescu D, Sklar P, St Clair D, Walters JTR, Werge T, Sullivan PF, O'Donovan MC, Scherer SW, Neale BM, Sebat J. PMID: 27869829.
      View in: PubMed   Mentions: 101     Fields:    Translation:Humans
    21. Frequency and Complexity of De Novo Structural Mutation in Autism. Am J Hum Genet. 2016 Apr 07; 98(4):667-79. Brandler WM, Antaki D, Gujral M, Noor A, Rosanio G, Chapman TR, Barrera DJ, Lin GN, Malhotra D, Watts AC, Wong LC, Estabillo JA, Gadomski TE, Hong O, Fajardo KV, Bhandari A, Owen R, Baughn M, Yuan J, Solomon T, Moyzis AG, Maile MS, Sanders SJ, Reiner GE, Vaux KK, Strom CM, Zhang K, Muotri AR, Akshoomoff N, Leal SM, Pierce K, Courchesne E, Iakoucheva LM, Corsello C, Sebat J. PMID: 27018473.
      View in: PubMed   Mentions: 15     Fields:    Translation:HumansCells
    22. An integrated map of structural variation in 2,504 human genomes. Nature. 2015 Oct 01; 526(7571):75-81. Sudmant PH, Rausch T, Gardner EJ, Handsaker RE, Abyzov A, Huddleston J, Zhang Y, Ye K, Jun G, Fritz MH, Konkel MK, Malhotra A, Stütz AM, Shi X, Casale FP, Chen J, Hormozdiari F, Dayama G, Chen K, Malig M, Chaisson MJP, Walter K, Meiers S, Kashin S, Garrison E, Auton A, Lam HYK, Mu XJ, Alkan C, Antaki D, Bae T, Cerveira E, Chines P, Chong Z, Clarke L, Dal E, Ding L, Emery S, Fan X, Gujral M, Kahveci F, Kidd JM, Kong Y, Lameijer EW, McCarthy S, Flicek P, Gibbs RA, Marth G, Mason CE, Menelaou A, Muzny DM, Nelson BJ, Noor A, Parrish NF, Pendleton M, Quitadamo A, Raeder B, Schadt EE, Romanovitch M, Schlattl A, Sebra R, Shabalin AA, Untergasser A, Walker JA, Wang M, Yu F, Zhang C, Zhang J, Zheng-Bradley X, Zhou W, Zichner T, Sebat J, Batzer MA, McCarroll SA, Mills RE, Gerstein MB, Bashir A, Stegle O, Devine SE, Lee C, Eichler EE, Korbel JO. PMID: 26432246.
      View in: PubMed   Mentions: 337     Fields:    Translation:HumansCells
    23. The Influence of Microdeletions and Microduplications of 16p11.2 on Global Transcription Profiles. J Child Neurol. 2015 Dec; 30(14):1947-53. Kusenda M, Vacic V, Malhotra D, Rodgers L, Pavon K, Meth J, Kumar RA, Christian SL, Peeters H, Cho SS, Addington A, Rapoport JL, Sebat J. PMID: 26391891.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    24. Characterization of molecular and cellular phenotypes associated with a heterozygous CNTNAP2 deletion using patient-derived hiPSC neural cells. NPJ Schizophr. 2015 Jun 24; 1. Lee IS, Carvalho CM, Douvaras P, Ho SM, Hartley BJ, Zuccherato LW, Ladran IG, Siegel AJ, McCarthy S, Malhotra D, Sebat J, Rapoport J, Fossati V, Lupski JR, Levy DL, Brennand KJ. PMID: 26985448.
      View in: PubMed   Mentions:
    25. Spatiotemporal 16p11.2 protein network implicates cortical late mid-fetal brain development and KCTD13-Cul3-RhoA pathway in psychiatric diseases. Neuron. 2015 Feb 18; 85(4):742-54. Lin GN, Corominas R, Lemmens I, Yang X, Tavernier J, Hill DE, Vidal M, Sebat J, Iakoucheva LM. PMID: 25695269.
      View in: PubMed   Mentions: 31     Fields:    Translation:HumansCells
    26. From de novo mutations to personalized therapeutic interventions in autism. Annu Rev Med. 2015; 66:487-507. Brandler WM, Sebat J. PMID: 25587659.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    27. Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. Nat Commun. 2014 Apr 11; 5:3650. Corominas R, Yang X, Lin GN, Kang S, Shen Y, Ghamsari L, Broly M, Rodriguez M, Tam S, Trigg SA, Fan C, Yi S, Tasan M, Lemmens I, Kuang X, Zhao N, Malhotra D, Michaelson JJ, Vacic V, Calderwood MA, Roth FP, Tavernier J, Horvath S, Salehi-Ashtiani K, Korkin D, Sebat J, Hill DE, Hao T, Vidal M, Iakoucheva LM. PMID: 24722188.
      View in: PubMed   Mentions: 43     Fields:    Translation:HumansCells
    28. Formation of chimeric genes by copy-number variation as a mutational mechanism in schizophrenia. Am J Hum Genet. 2013 Oct 03; 93(4):697-710. Rippey C, Walsh T, Gulsuner S, Brodsky M, Nord AS, Gasperini M, Pierce S, Spurrell C, Coe BP, Krumm N, Lee MK, Sebat J, McClellan JM, King MC. PMID: 24094746.
      View in: PubMed   Mentions: 16     Fields:    Translation:HumansCells
    29. Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia. Biol Psychiatry. 2014 Mar 01; 75(5):371-7. Mulle JG, Pulver AE, McGrath JA, Wolyniec PS, Dodd AF, Cutler DJ, Sebat J, Malhotra D, Nestadt G, Conrad DF, Hurles M, Barnes CP, Ikeda M, Iwata N, Levinson DF, Gejman PV, Sanders AR, Duan J, Mitchell AA, Peter I, Sklar P, O'Dushlaine CT, Grozeva D, O'Donovan MC, Owen MJ, Hultman CM, Kähler AK, Sullivan PF, Kirov G, Warren ST. PMID: 23871472.
      View in: PubMed   Mentions: 21     Fields:    Translation:HumansCells
    30. Implication of a rare deletion at distal 16p11.2 in schizophrenia. JAMA Psychiatry. 2013 Mar; 70(3):253-60. Guha S, Rees E, Darvasi A, Ivanov D, Ikeda M, Bergen SE, Magnusson PK, Cormican P, Morris D, Gill M, Cichon S, Rosenfeld JA, Lee A, Gregersen PK, Kane JM, Malhotra AK, Rietschel M, Nöthen MM, Degenhardt F, Priebe L, Breuer R, Strohmaier J, Ruderfer DM, Moran JL, Chambert KD, Sanders AR, Shi J, Kendler K, Riley B, O'Neill T, Walsh D, Malhotra D, Corvin A, Purcell S, Sklar P, Iwata N, Hultman CM, Sullivan PF, Sebat J, McCarthy S, Gejman PV, Levinson DF, Owen MJ, O'Donovan MC, Lencz T, Kirov G. PMID: 23325106.
      View in: PubMed   Mentions: 24     Fields:    Translation:HumansCells
    31. Whole-genome sequencing in autism identifies hot spots for de novo germline mutation. Cell. 2012 Dec 21; 151(7):1431-42. Michaelson JJ, Shi Y, Gujral M, Zheng H, Malhotra D, Jin X, Jian M, Liu G, Greer D, Bhandari A, Wu W, Corominas R, Peoples A, Koren A, Gore A, Kang S, Lin GN, Estabillo J, Gadomski T, Singh B, Zhang K, Akshoomoff N, Corsello C, McCarroll S, Iakoucheva LM, Li Y, Wang J, Sebat J. PMID: 23260136.
      View in: PubMed   Mentions: 184     Fields:    Translation:HumansAnimalsCells
    32. Differential relationship of DNA replication timing to different forms of human mutation and variation. Am J Hum Genet. 2012 Dec 07; 91(6):1033-40. Koren A, Polak P, Nemesh J, Michaelson JJ, Sebat J, Sunyaev SR, McCarroll SA. PMID: 23176822.
      View in: PubMed   Mentions: 78     Fields:    Translation:HumansCells
    33. forestSV: structural variant discovery through statistical learning. Nat Methods. 2012 Jul 01; 9(8):819-21. Michaelson JJ, Sebat J. PMID: 22751202.
      View in: PubMed   Mentions: 11     Fields:    Translation:Humans
    34. Genetics: Fish heads and human disease. Nature. 2012 May 16; 485(7398):318-9. Malhotra D, Sebat J. PMID: 22596152.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansAnimalsCells
    35. CNVs: harbingers of a rare variant revolution in psychiatric genetics. Cell. 2012 Mar 16; 148(6):1223-41. Malhotra D, Sebat J. PMID: 22424231.
      View in: PubMed   Mentions: 273     Fields:    Translation:HumansAnimals
    36. High frequencies of de novo CNVs in bipolar disorder and schizophrenia. Neuron. 2011 Dec 22; 72(6):951-63. Malhotra D, McCarthy S, Michaelson JJ, Vacic V, Burdick KE, Yoon S, Cichon S, Corvin A, Gary S, Gershon ES, Gill M, Karayiorgou M, Kelsoe JR, Krastoshevsky O, Krause V, Leibenluft E, Levy DL, Makarov V, Bhandari A, Malhotra AK, McMahon FJ, Nöthen MM, Potash JB, Rietschel M, Schulze TG, Sebat J. PMID: 22196331.
      View in: PubMed   Mentions: 118     Fields:    Translation:Humans
    37. Inferring haplotypes of copy number variations from high-throughput data with uncertainty. G3 (Bethesda). 2011 Jun; 1(1):35-42. Kato M, Yoon S, Hosono N, Leotta A, Sebat J, Tsunoda T, Zhang MQ. PMID: 22384316.
      View in: PubMed   Mentions: 4     Fields:    
    38. Modelling schizophrenia using human induced pluripotent stem cells. Nature. 2011 May 12; 473(7346):221-5. Brennand KJ, Simone A, Jou J, Gelboin-Burkhart C, Tran N, Sangar S, Li Y, Mu Y, Chen G, Yu D, McCarthy S, Sebat J, Gage FH. PMID: 21490598.
      View in: PubMed   Mentions: 427     Fields:    Translation:HumansCells
    39. Reduced transcript expression of genes affected by inherited and de novo CNVs in autism. Eur J Hum Genet. 2011 Jun; 19(6):727-31. Nord AS, Roeb W, Dickel DE, Walsh T, Kusenda M, O'Connor KL, Malhotra D, McCarthy SE, Stray SM, Taylor SM, Sebat J, King B, King MC, McClellan JM. PMID: 21448237.
      View in: PubMed   Mentions: 42     Fields:    Translation:HumansCells
    40. Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia. Nature. 2011 Mar 24; 471(7339):499-503. Vacic V, McCarthy S, Malhotra D, Murray F, Chou HH, Peoples A, Makarov V, Yoon S, Bhandari A, Corominas R, Iakoucheva LM, Krastoshevsky O, Krause V, Larach-Walters V, Welsh DK, Craig D, Kelsoe JR, Gershon ES, Leal SM, Dell Aquila M, Morris DW, Gill M, Corvin A, Insel PA, McClellan J, King MC, Karayiorgou M, Levy DL, DeLisi LE, Sebat J. PMID: 21346763.
      View in: PubMed   Mentions: 122     Fields:    Translation:HumansCells
    41. Mapping copy number variation by population-scale genome sequencing. Nature. 2011 Feb 03; 470(7332):59-65. Mills RE, Walter K, Stewart C, Handsaker RE, Chen K, Alkan C, Abyzov A, Yoon SC, Ye K, Cheetham RK, Chinwalla A, Conrad DF, Fu Y, Grubert F, Hajirasouliha I, Hormozdiari F, Iakoucheva LM, Iqbal Z, Kang S, Kidd JM, Konkel MK, Korn J, Khurana E, Kural D, Lam HY, Leng J, Li R, Li Y, Lin CY, Luo R, Mu XJ, Nemesh J, Peckham HE, Rausch T, Scally A, Shi X, Stromberg MP, Stütz AM, Urban AE, Walker JA, Wu J, Zhang Y, Zhang ZD, Batzer MA, Ding L, Marth GT, McVean G, Sebat J, Snyder M, Wang J, Ye K, Eichler EE, Gerstein MB, Hurles ME, Lee C, McCarroll SA, Korbel JO. PMID: 21293372.
      View in: PubMed   Mentions: 456     Fields:    Translation:Humans
    42. Reduced NMDAR1 expression in the Sp4 hypomorphic mouse may contribute to endophenotypes of human psychiatric disorders. Hum Mol Genet. 2010 Oct 01; 19(19):3797-805. Zhou X, Nie Z, Roberts A, Zhang D, Sebat J, Malhotra D, Kelsoe JR, Geyer MA. PMID: 20634195.
      View in: PubMed   Mentions: 19     Fields:    Translation:HumansAnimals
    43. Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51. Am J Hum Genet. 2010 Jul 09; 87(1):101-9. Walsh T, Pierce SB, Lenz DR, Brownstein Z, Dagan-Rosenfeld O, Shahin H, Roeb W, McCarthy S, Nord AS, Gordon CR, Ben-Neriah Z, Sebat J, Kanaan M, Lee MK, Frydman M, King MC, Avraham KB. PMID: 20602916.
      View in: PubMed   Mentions: 32     Fields:    Translation:HumansAnimalsCells
    44. A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet. 2010 Mar; 42(3):203-9. Girirajan S, Rosenfeld JA, Cooper GM, Antonacci F, Siswara P, Itsara A, Vives L, Walsh T, McCarthy SE, Baker C, Mefford HC, Kidd JM, Browning SR, Browning BL, Dickel DE, Levy DL, Ballif BC, Platky K, Farber DM, Gowans GC, Wetherbee JJ, Asamoah A, Weaver DD, Mark PR, Dickerson J, Garg BP, Ellingwood SA, Smith R, Banks VC, Smith W, McDonald MT, Hoo JJ, French BN, Hudson C, Johnson JP, Ozmore JR, Moeschler JB, Surti U, Escobar LF, El-Khechen D, Gorski JL, Kussmann J, Salbert B, Lacassie Y, Biser A, McDonald-McGinn DM, Zackai EH, Deardorff MA, Shaikh TH, Haan E, Friend KL, Fichera M, Romano C, Gécz J, DeLisi LE, Sebat J, King MC, Shaffer LG, Eichler EE. PMID: 20154674.
      View in: PubMed   Mentions: 206     Fields:    Translation:HumansCells
    45. Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders. Trends Genet. 2009 Dec; 25(12):528-35. Sebat J, Levy DL, McCarthy SE. PMID: 19883952.
      View in: PubMed   Mentions: 103     Fields:    Translation:HumansAnimals
    46. Genomewide association study of movement-related adverse antipsychotic effects. Biol Psychiatry. 2010 Feb 01; 67(3):279-82. Aberg K, Adkins DE, Bukszár J, Webb BT, Caroff SN, Miller DD, Sebat J, Stroup S, Fanous AH, Vladimirov VI, McClay JL, Lieberman JA, Sullivan PF, van den Oord EJ. PMID: 19875103.
      View in: PubMed   Mentions: 36     Fields:    Translation:Humans
    47. Microduplications of 16p11.2 are associated with schizophrenia. Nat Genet. 2009 Nov; 41(11):1223-7. McCarthy SE, Makarov V, Kirov G, Addington AM, McClellan J, Yoon S, Perkins DO, Dickel DE, Kusenda M, Krastoshevsky O, Krause V, Kumar RA, Grozeva D, Malhotra D, Walsh T, Zackai EH, Kaplan P, Ganesh J, Krantz ID, Spinner NB, Roccanova P, Bhandari A, Pavon K, Lakshmi B, Leotta A, Kendall J, Lee YH, Vacic V, Gary S, Iakoucheva LM, Crow TJ, Christian SL, Lieberman JA, Stroup TS, Lehtimäki T, Puura K, Haldeman-Englert C, Pearl J, Goodell M, Willour VL, Derosse P, Steele J, Kassem L, Wolff J, Chitkara N, McMahon FJ, Malhotra AK, Potash JB, Schulze TG, Nöthen MM, Cichon S, Rietschel M, Leibenluft E, Kustanovich V, Lajonchere CM, Sutcliffe JS, Skuse D, Gill M, Gallagher L, Mendell NR, Craddock N, Owen MJ, O'Donovan MC, Shaikh TH, Susser E, Delisi LE, Sullivan PF, Deutsch CK, Rapoport J, Levy DL, King MC, Sebat J. PMID: 19855392.
      View in: PubMed   Mentions: 248     Fields:    Translation:HumansCells
    48. Sensitive and accurate detection of copy number variants using read depth of coverage. Genome Res. 2009 Sep; 19(9):1586-92. Yoon S, Xuan Z, Makarov V, Ye K, Sebat J. PMID: 19657104.
      View in: PubMed   Mentions: 222     Fields:    Translation:Humans
    49. The role of rare structural variants in the genetics of autism spectrum disorders. Cytogenet Genome Res. 2008; 123(1-4):36-43. Kusenda M, Sebat J. PMID: 19287137.
      View in: PubMed   Mentions: 9     Fields:    Translation:Humans
    50. Computing power and sample size for case-control association studies with copy number polymorphism: application of mixture-based likelihood ratio test. PLoS One. 2008; 3(10):e3475. Kim W, Gordon D, Sebat J, Ye KQ, Finch SJ. PMID: 18941524.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    51. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med. 2008 Oct 16; 359(16):1685-99. Mefford HC, Sharp AJ, Baker C, Itsara A, Jiang Z, Buysse K, Huang S, Maloney VK, Crolla JA, Baralle D, Collins A, Mercer C, Norga K, de Ravel T, Devriendt K, Bongers EM, de Leeuw N, Reardon W, Gimelli S, Bena F, Hennekam RC, Male A, Gaunt L, Clayton-Smith J, Simonic I, Park SM, Mehta SG, Nik-Zainal S, Woods CG, Firth HV, Parkin G, Fichera M, Reitano S, Lo Giudice M, Li KE, Casuga I, Broomer A, Conrad B, Schwerzmann M, Räber L, Gallati S, Striano P, Coppola A, Tolmie JL, Tobias ES, Lilley C, Armengol L, Spysschaert Y, Verloo P, De Coene A, Goossens L, Mortier G, Speleman F, van Binsbergen E, Nelen MR, Hochstenbach R, Poot M, Gallagher L, Gill M, McClellan J, King MC, Regan R, Skinner C, Stevenson RE, Antonarakis SE, Chen C, Estivill X, Menten B, Gimelli G, Gribble S, Schwartz S, Sutcliffe JS, Walsh T, Knight SJ, Sebat J, Romano C, Schwartz CE, Veltman JA, de Vries BB, Vermeesch JR, Barber JC, Willatt L, Tassabehji M, Eichler EE. PMID: 18784092.
      View in: PubMed   Mentions: 250     Fields:    Translation:HumansCells
    52. Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science. 2008 Apr 25; 320(5875):539-43. Walsh T, McClellan JM, McCarthy SE, Addington AM, Pierce SB, Cooper GM, Nord AS, Kusenda M, Malhotra D, Bhandari A, Stray SM, Rippey CF, Roccanova P, Makarov V, Lakshmi B, Findling RL, Sikich L, Stromberg T, Merriman B, Gogtay N, Butler P, Eckstrand K, Noory L, Gochman P, Long R, Chen Z, Davis S, Baker C, Eichler EE, Meltzer PS, Nelson SF, Singleton AB, Lee MK, Rapoport JL, King MC, Sebat J. PMID: 18369103.
      View in: PubMed   Mentions: 677     Fields:    Translation:HumansCells
    53. Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. Am J Hum Genet. 2008 Jan; 82(1):150-9. Alarcón M, Abrahams BS, Stone JL, Duvall JA, Perederiy JV, Bomar JM, Sebat J, Wigler M, Martin CL, Ledbetter DH, Nelson SF, Cantor RM, Geschwind DH. PMID: 18179893.
      View in: PubMed   Mentions: 306     Fields:    Translation:HumansCells
    54. A unified genetic theory for sporadic and inherited autism. Proc Natl Acad Sci U S A. 2007 Jul 31; 104(31):12831-6. Zhao X, Leotta A, Kustanovich V, Lajonchere C, Geschwind DH, Law K, Law P, Qiu S, Lord C, Sebat J, Ye K, Wigler M. PMID: 17652511.
      View in: PubMed   Mentions: 118     Fields:    Translation:Humans
    55. Copy-number variants in patients with a strong family history of pancreatic cancer. Cancer Biol Ther. 2007 Oct; 6(10):1592-9. Lucito R, Suresh S, Walter K, Pandey A, Lakshmi B, Krasnitz A, Sebat J, Wigler M, Klein AP, Brune K, Palmisano E, Maitra A, Goggins M, Hruban RH. PMID: 17912030.
      View in: PubMed   Mentions: 16     Fields:    Translation:Humans
    56. Major changes in our DNA lead to major changes in our thinking. Nat Genet. 2007 Jul; 39(7 Suppl):S3-5. Sebat J. PMID: 17597778.
      View in: PubMed   Mentions: 43     Fields:    Translation:Humans
    57. Completing the map of human genetic variation. Nature. 2007 May 10; 447(7141):161-5. Eichler EE, Nickerson DA, Altshuler D, Bowcock AM, Brooks LD, Carter NP, Church DM, Felsenfeld A, Guyer M, Lee C, Lupski JR, Mullikin JC, Pritchard JK, Sebat J, Sherry ST, Smith D, Valle D, Waterston RH. PMID: 17495918.
      View in: PubMed   Mentions: 81     Fields:    Translation:Humans
    58. Strong association of de novo copy number mutations with autism. Science. 2007 Apr 20; 316(5823):445-9. Sebat J, Lakshmi B, Malhotra D, Troge J, Lese-Martin C, Walsh T, Yamrom B, Yoon S, Krasnitz A, Kendall J, Leotta A, Pai D, Zhang R, Lee YH, Hicks J, Spence SJ, Lee AT, Puura K, Lehtimäki T, Ledbetter D, Gregersen PK, Bregman J, Sutcliffe JS, Jobanputra V, Chung W, Warburton D, King MC, Skuse D, Geschwind DH, Gilliam TC, Ye K, Wigler M. PMID: 17363630.
      View in: PubMed   Mentions: 997     Fields:    Translation:HumansCells
    59. PROBER: oligonucleotide FISH probe design software. Bioinformatics. 2006 Oct 01; 22(19):2437-8. Navin N, Grubor V, Hicks J, Leibu E, Thomas E, Troge J, Riggs M, Lundin P, Månér S, Sebat J, Zetterberg A, Wigler M. PMID: 16740623.
      View in: PubMed   Mentions: 11     Fields:    Translation:Cells
    60. Application of ROMA (representational oligonucleotide microarray analysis) to patients with cytogenetic rearrangements. Genet Med. 2005 Feb; 7(2):111-8. Jobanputra V, Sebat J, Troge J, Chung W, Anyane-Yeboa K, Wigler M, Warburton D. PMID: 15714078.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    61. Large-scale copy number polymorphism in the human genome. Science. 2004 Jul 23; 305(5683):525-8. Sebat J, Lakshmi B, Troge J, Alexander J, Young J, Lundin P, Månér S, Massa H, Walker M, Chi M, Navin N, Lucito R, Healy J, Hicks J, Ye K, Reiner A, Gilliam TC, Trask B, Patterson N, Zetterberg A, Wigler M. PMID: 15273396.
      View in: PubMed   Mentions: 854     Fields:    Translation:HumansCells
    62. Distribution of short paired duplications in mammalian genomes. Proc Natl Acad Sci U S A. 2004 Jul 13; 101(28):10349-54. Thomas EE, Srebro N, Sebat J, Navin N, Healy J, Mishra B, Wigler M. PMID: 15240876.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansAnimalsCells
    63. Representational oligonucleotide microarray analysis: a high-resolution method to detect genome copy number variation. Genome Res. 2003 Oct; 13(10):2291-305. Lucito R, Healy J, Alexander J, Reiner A, Esposito D, Chi M, Rodgers L, Brady A, Sebat J, Troge J, West JA, Rostan S, Nguyen KC, Powers S, Ye KQ, Olshen A, Venkatraman E, Norton L, Wigler M. PMID: 12975311.
      View in: PubMed   Mentions: 116     Fields:    Translation:HumansCells
    64. Metagenomic profiling: microarray analysis of an environmental genomic library. Appl Environ Microbiol. 2003 Aug; 69(8):4927-34. Sebat JL, Colwell FS, Crawford RL. PMID: 12902288.
      View in: PubMed   Mentions: 17     Fields:    Translation:Cells
    65. Metal chelating properties of pyridine-2,6-bis(thiocarboxylic acid) produced by Pseudomonas spp. and the biological activities of the formed complexes. Biometals. 2002 Jun; 15(2):103-20. Cortese MS, Paszczynski A, Lewis TA, Sebat JL, Borek V, Crawford RL. PMID: 12046919.
      View in: PubMed   Mentions: 12     Fields:    Translation:AnimalsCells
    66. Antimicrobial properties of pyridine-2,6-dithiocarboxylic acid, a metal chelator produced by Pseudomonas spp. Appl Environ Microbiol. 2001 Sep; 67(9):3934-42. Sebat JL, Paszczynski AJ, Cortese MS, Crawford RL. PMID: 11525988.
      View in: PubMed   Mentions: 14     Fields:    Translation:Cells
    67. A Pseudomonas stutzeri gene cluster encoding the biosynthesis of the CCl4-dechlorination agent pyridine-2,6-bis(thiocarboxylic acid). Environ Microbiol. 2000 Aug; 2(4):407-16. Lewis TA, Cortese MS, Sebat JL, Green TL, Lee CH, Crawford RL. PMID: 11234929.
      View in: PubMed   Mentions: 12     Fields:    Translation:Cells
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