Jonathan Sebat

Title(s)Professor, Psychiatry
SchoolVc-health Sciences-schools
Address9500 Gilman Drive #
La Jolla CA 92093
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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
    Characterization of Tandem Repeat and Structural Variants Contributing to Addictive Behaviors in Mice and Rats
    NIH U01DA051234May 1, 2021 - Feb 28, 2026
    Role: Co-Principal Investigator
    4/7 Psychiatric Genomics Consortium: Advancing Discovery and Impact
    NIH R01MH124847Apr 10, 2021 - Feb 28, 2026
    Role: Principal Investigator
    4/9: Dissecting the effects of genomic variants on neurobehavioral dimensions in CNVs enriched for neuropsychiatric disorders
    NIH U01MH119746Jun 20, 2019 - Mar 31, 2024
    Role: Principal Investigator
    Expanding the accessible genetic architecture of autism by single molecule sequencing
    NIH R01MH113715Sep 6, 2017 - May 31, 2022
    Role: Principal Investigator
    Personalized treatment of cognitive deficits associated with deletion of CACNG2
    NIH R21MH113179Aug 1, 2017 - Jan 31, 2020
    Role: Principal Investigator
    4/7 Psychiatric Genomics Consortium: Finding actionable variation
    NIH U01MH109501Jul 1, 2016 - Mar 31, 2021
    Role: Principal Investigator
    3/4-Psychiatric GWAS Consortium: Genomic Follow-Up Next-Gen Sequencing & Genotypi
    NIH U01MH094411May 10, 2012 - Mar 31, 2017
    Role: Principal Investigator
    High-Resolution ROMA Analysis of Genome Copy Number Variation in the HapMap
    NIH P41HG004222May 15, 2007 - Jun 30, 2011
    Role: Principal Investigator
    The Role of Germline Mutation and Parental Age in Autism Spectrum Disorders
    NIH R01MH076431Sep 30, 2005 - Aug 31, 2017
    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. Effects of genetically predicted posttraumatic stress disorder on autoimmune phenotypes. Transl Psychiatry. 2024 Apr 01; 14(1):172. Maihofer AX, Ratanatharathorn A, Hemmings SMJ, Costenbader KH, Michopoulos V, Polimanti R, Rothbaum AO, Seedat S, Mikita EA, CHARGE Inflammation Working Group, Psychiatric Genomics Consortium PTSD Working Group, Smith AK, Salem RM, Shaffer RA, Wu T, Sebat J, Ressler KJ, Stein MB, Koenen KC, Wolf EJ, Sumner JA, Nievergelt CM. PMID: 38561342; PMCID: PMC10984931.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    2. A revamped rat reference genome improves the discovery of genetic diversity in laboratory rats. Cell Genom. 2024 Mar 22; 100527. de Jong TV, Pan Y, Rastas P, Munro D, Tutaj M, Akil H, Benner C, Chen D, Chitre AS, Chow W, Colonna V, Dalgard CL, Demos WM, Doris PA, Garrison E, Geurts AM, Gunturkun HM, Guryev V, Hourlier T, Howe K, Huang J, Kalbfleisch T, Kim P, Li L, Mahaffey S, Martin FJ, Mohammadi P, Ozel AB, Polesskaya O, Pravenec M, Prins P, Sebat J, Smith JR, Solberg Woods LC, Tabakoff B, Tracey A, Uliano-Silva M, Villani F, Wang H, Sharp BM, Telese F, Jiang Z, Saba L, Wang X, Murphy TD, Palmer AA, Kwitek AE, Dwinell MR, Williams RW, Li JZ, Chen H. PMID: 38537634.
      View in: PubMed   Mentions:
    3. Neurocognitive Profiles of 22q11.2 and 16p11.2 Deletions and Duplications. Res Sq. 2023 Dec 29. Gur R, Bearden C, Jacquemont S, Jizi K, Amelsvoort van T, van den Bree M, Vorstman J, Sebat J, Ruparel K, Gallagher R, Swillen A, McClellan E, White L, Crowley T, Giunta V, Kushan L, O'Hora K, Verbesselt J, Vandensande A, Vingerhoets C, van Haelst M, Hall J, Harwood J, Chawner S, Patel N, Palad K, Hong O, Guevara J, Martin CO, Bélanger AM, Scherer S, Bassett A, McDonald-McGinn D, Gur R. PMID: 38234766; PMCID: PMC10793509.
      View in: PubMed   Mentions:
    4. A revamped rat reference genome improves the discovery of genetic diversity in laboratory rats. bioRxiv. 2023 Sep 28. de Jong TV, Pan Y, Rastas P, Munro D, Tutaj M, Akil H, Benner C, Chen D, Chitre AS, Chow W, Colonna V, Dalgard CL, Demos WM, Doris PA, Garrison E, Geurts AM, Gunturkun HM, Guryev V, Hourlier T, Howe K, Huang J, Kalbfleisch T, Kim P, Li L, Mahaffey S, Martin FJ, Mohammadi P, Ozel AB, Polesskaya O, Pravenec M, Prins P, Sebat J, Smith JR, Solberg Woods LC, Tabakoff B, Tracey A, Uliano-Silva M, Villani F, Wang H, Sharp BM, Telese F, Jiang Z, Saba L, Wang X, Murphy TD, Palmer AA, Kwitek AE, Dwinell MR, Williams RW, Li JZ, Chen H. PMID: 37214860; PMCID: PMC10197727.
      View in: PubMed   Mentions:
    5. Schizophrenia-associated somatic copy-number variants from 12,834 cases reveal recurrent NRXN1 and ABCB11 disruptions. Cell Genom. 2023 Aug 09; 3(8):100356. Maury EA, Sherman MA, Genovese G, Gilgenast TG, Kamath T, Burris SJ, Rajarajan P, Flaherty E, Akbarian S, Chess A, McCarroll SA, Loh PR, Phillips-Cremins JE, Brennand KJ, Macosko EZ, Walters JTR, O'Donovan M, Sullivan P, Psychiatric Genomic Consortium Schizophrenia and CNV workgroup, Brain Somatic Mosaicism Network, Sebat J, Lee EA, Walsh CA. PMID: 37601975; PMCID: PMC10435376.
      View in: PubMed   Mentions: 3  
    6. Author Correction: Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. Nat Commun. 2023 Feb 02; 14(1):569. Corominas R, Yang X, Lin GN, Kang S, Shen Y, Ghamsari L, Broly M, Rodriguez M, Tam S, Wanamaker 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: 36732511; PMCID: PMC9895433.
      View in: PubMed   Mentions:    Fields:    
    7. Control-independent mosaic single nucleotide variant detection with DeepMosaic. Nat Biotechnol. 2023 06; 41(6):870-877. Yang X, Xu X, Breuss MW, Antaki D, Ball LL, Chung C, Shen J, Li C, George RD, Wang Y, Bae T, Cheng Y, Abyzov A, Wei L, Alexandrov LB, Sebat JL, NIMH Brain Somatic Mosaicism Network, Gleeson JG. PMID: 36593400; PMCID: PMC10314968.
      View in: PubMed   Mentions: 8     Fields:    
    8. Genomic architecture of autism from comprehensive whole-genome sequence annotation. Cell. 2022 11 10; 185(23):4409-4427.e18. Trost B, Thiruvahindrapuram B, Chan AJS, Engchuan W, Higginbotham EJ, Howe JL, Loureiro LO, Reuter MS, Roshandel D, Whitney J, Zarrei M, Bookman M, Somerville C, Shaath R, Abdi M, Aliyev E, Patel RV, Nalpathamkalam T, Pellecchia G, Hamdan O, Kaur G, Wang Z, MacDonald JR, Wei J, Sung WWL, Lamoureux S, Hoang N, Selvanayagam T, Deflaux N, Geng M, Ghaffari S, Bates J, Young EJ, Ding Q, Shum C, D'Abate L, Bradley CA, Rutherford A, Aguda V, Apresto B, Chen N, Desai S, Du X, Fong MLY, Pullenayegum S, Samler K, Wang T, Ho K, Paton T, Pereira SL, Herbrick JA, Wintle RF, Fuerth J, Noppornpitak J, Ward H, Magee P, Al Baz A, Kajendirarajah U, Kapadia S, Vlasblom J, Valluri M, Green J, Seifer V, Quirbach M, Rennie O, Kelley E, Masjedi N, Lord C, Szego MJ, Zawati MH, Lang M, Strug LJ, Marshall CR, Costain G, Calli K, Iaboni A, Yusuf A, Ambrozewicz P, Gallagher L, Amaral DG, Brian J, Elsabbagh M, Georgiades S, Messinger DS, Ozonoff S, Sebat J, Sjaarda C, Smith IM, Szatmari P, Zwaigenbaum L, Kushki A, Frazier TW, Vorstman JAS, Fakhro KA, Fernandez BA, Lewis MES, Weksberg R, Fiume M, Yuen RKC, Anagnostou E, Sondheimer N, Glazer D, Hartley DM, Scherer SW. PMID: 36368308; PMCID: PMC10726699.
      View in: PubMed   Mentions: 37     Fields:    Translation:Humans
    9. Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p. Nat Genet. 2022 11; 54(11):1630-1639. Weiner DJ, Ling E, Erdin S, Tai DJC, Yadav R, Grove J, Fu JM, Nadig A, Carey CE, Baya N, Bybjerg-Grauholm J, iPSYCH Consortium, ASD Working Group of the Psychiatric Genomics Consortium, ADHD Working Group of the Psychiatric Genomics Consortium, Berretta S, Macosko EZ, Sebat J, O'Connor LJ, Hougaard DM, Børglum AD, Talkowski ME, McCarroll SA, Robinson EB. PMID: 36280734; PMCID: PMC9649437.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansCells
    10. Rare copy number variation in posttraumatic stress disorder. Mol Psychiatry. 2022 12; 27(12):5062-5069. Maihofer AX, Engchuan W, Huguet G, Klein M, MacDonald JR, Shanta O, Thiruvahindrapuram B, Jean-Louis M, Saci Z, Jacquemont S, Scherer SW, Ketema E, Aiello AE, Amstadter AB, Avdibegovic E, Babic D, Baker DG, Bisson JI, Boks MP, Bolger EA, Bryant RA, Bustamante AC, Caldas-de-Almeida JM, Cardoso G, Deckert J, Delahanty DL, Domschke K, Dunlop BW, Dzubur-Kulenovic A, Evans A, Feeny NC, Franz CE, Gautam A, Geuze E, Goci A, Hammamieh R, Jakovljevic M, Jett M, Jones I, Kaufman ML, Kessler RC, King AP, Kremen WS, Lawford BR, Lebois LAM, Lewis C, Liberzon I, Linnstaedt SD, Lugonja B, Luykx JJ, Lyons MJ, Mavissakalian MR, McLaughlin KA, McLean SA, Mehta D, Mellor R, Morris CP, Muhie S, Orcutt HK, Peverill M, Ratanatharathorn A, Risbrough VB, Rizzo A, Roberts AL, Rothbaum AO, Rothbaum BO, Roy-Byrne P, Ruggiero KJ, Rutten BPF, Schijven D, Seng JS, Sheerin CM, Sorenson MA, Teicher MH, Uddin M, Ursano RJ, Vinkers CH, Voisey J, Weber H, Winternitz S, Xavier M, Yang R, McD Young R, Zoellner LA, Psychiatric Genomics Consortium PTSD Working Group, Psychiatric Genomics Consortium CNV Working Group, Salem RM, Shaffer RA, Wu T, Ressler KJ, Stein MB, Koenen KC, Sebat J, Nievergelt CM. PMID: 36131047; PMCID: PMC9763110.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    11. Publisher Correction: A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex. Nat Genet. 2022 Aug; 54(8):1259. Antaki D, Guevara J, Maihofer AX, Klein M, Gujral M, Grove J, Carey CE, Hong O, Arranz MJ, Hervas A, Corsello C, Vaux KK, Muotri AR, Iakoucheva LM, Courchesne E, Pierce K, Gleeson JG, Robinson EB, Nievergelt CM, Sebat J. PMID: 35768728.
      View in: PubMed   Mentions: 2     Fields:    
    12. Exome sequencing analysis of Japanese autism spectrum disorder case-control sample supports an increased burden of synaptic function-related genes. Transl Psychiatry. 2022 07 11; 12(1):265. Kimura H, Nakatochi M, Aleksic B, Guevara J, Toyama M, Hayashi Y, Kato H, Kushima I, Morikawa M, Ishizuka K, Okada T, Tsurusaki Y, Fujita A, Miyake N, Ogi T, Takata A, Matsumoto N, Buxbaum J, Ozaki N, Sebat J. PMID: 35811316; PMCID: PMC9271461.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    13. A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex. Nat Genet. 2022 09; 54(9):1284-1292. Antaki D, Guevara J, Maihofer AX, Klein M, Gujral M, Grove J, Carey CE, Hong O, Arranz MJ, Hervas A, Corsello C, Vaux KK, Muotri AR, Iakoucheva LM, Courchesne E, Pierce K, Gleeson JG, Robinson EB, Nievergelt CM, Sebat J. PMID: 35654974; PMCID: PMC9474668.
      View in: PubMed   Mentions: 41     Fields:    Translation:Humans
    14. SNPs, short tandem repeats, and structural variants are responsible for differential gene expression across C57BL/6 and C57BL/10 substrains. Cell Genom. 2022 Mar 09; 2(3). Mortazavi M, Ren Y, Saini S, Antaki D, St Pierre CL, Williams A, Sohni A, Wilkinson MF, Gymrek M, Sebat J, Palmer AA. PMID: 35720252; PMCID: PMC9205302.
      View in: PubMed   Mentions: 9  
    15. Genes To Mental Health (G2MH): A Framework to Map the Combined Effects of Rare and Common Variants on Dimensions of Cognition and Psychopathology. Am J Psychiatry. 2022 03; 179(3):189-203. Jacquemont S, Huguet G, Klein M, Chawner SJRA, Donald KA, van den Bree MBM, Sebat J, Ledbetter DH, Constantino JN, Earl RK, McDonald-McGinn DM, van Amelsvoort T, Swillen A, O'Donnell-Luria AH, Glahn DC, Almasy L, Eichler EE, Scherer SW, Robinson E, Bassett AS, Martin CL, Finucane B, Vorstman JAS, Bearden CE, Gur RE, Genes to Mental Health Network. PMID: 35236119; PMCID: PMC9345000.
      View in: PubMed   Mentions: 18     Fields:    Translation:Humans
    16. Correction: Cortical organoids model early brain development disrupted by 16p11.2 copy number variants in autism. Mol Psychiatry. 2021 Dec; 26(12):7581. Urresti J, Zhang P, Moran-Losada P, Yu NK, Negraes PD, Trujillo CA, Antaki D, Amar M, Chau K, Pramod AB, Diedrich J, Tejwani L, Romero S, Sebat J, Yates Iii JR, Muotri AR, Iakoucheva LM. PMID: 34548630; PMCID: PMC9119232.
      View in: PubMed   Mentions: 4     Fields:    
    17. Customized de novo mutation detection for any variant calling pipeline: SynthDNM. Bioinformatics. 2021 Oct 25; 37(20):3640-3641. Lian A, Guevara J, Xia K, Sebat J. PMID: 33821956; PMCID: PMC8545295.
      View in: PubMed   Mentions: 2     Fields:    
    18. Enhancing Discovery of Genetic Variants for Posttraumatic Stress Disorder Through Integration of Quantitative Phenotypes and Trauma Exposure Information. Biol Psychiatry. 2022 04 01; 91(7):626-636. Maihofer AX, Choi KW, Coleman JRI, Daskalakis NP, Denckla CA, Ketema E, Morey RA, Polimanti R, Ratanatharathorn A, Torres K, Wingo AP, Zai CC, Aiello AE, Almli LM, Amstadter AB, Andersen SB, Andreassen OA, Arbisi PA, Ashley-Koch AE, Austin SB, Avdibegovic E, Borglum AD, Babic D, Bækvad-Hansen M, Baker DG, Beckham JC, Bierut LJ, Bisson JI, Boks MP, Bolger EA, Bradley B, Brashear M, Breen G, Bryant RA, Bustamante AC, Bybjerg-Grauholm J, Calabrese JR, Caldas-de-Almeida JM, Chen CY, Dale AM, Dalvie S, Deckert J, Delahanty DL, Dennis MF, Disner SG, Domschke K, Duncan LE, Džubur Kulenovic A, Erbes CR, Evans A, Farrer LA, Feeny NC, Flory JD, Forbes D, Franz CE, Galea S, Garrett ME, Gautam A, Gelaye B, Gelernter J, Geuze E, Gillespie CF, Goçi A, Gordon SD, Guffanti G, Hammamieh R, Hauser MA, Heath AC, Hemmings SMJ, Hougaard DM, Jakovljevic M, Jett M, Johnson EO, Jones I, Jovanovic T, Qin XJ, Karstoft KI, Kaufman ML, Kessler RC, Khan A, Kimbrel NA, King AP, Koen N, Kranzler HR, Kremen WS, Lawford BR, Lebois LAM, Lewis C, Liberzon I, Linnstaedt SD, Logue MW, Lori A, Lugonja B, Luykx JJ, Lyons MJ, Maples-Keller JL, Marmar C, Martin NG, Maurer D, Mavissakalian MR, McFarlane A, McGlinchey RE, McLaughlin KA, McLean SA, Mehta D, Mellor R, Michopoulos V, Milberg W, Miller MW, Morris CP, Mors O, Mortensen PB, Nelson EC, Nordentoft M, Norman SB, O'Donnell M, Orcutt HK, Panizzon MS, Peters ES, Peterson AL, Peverill M, Pietrzak RH, Polusny MA, Rice JP, Risbrough VB, Roberts AL, Rothbaum AO, Rothbaum BO, Roy-Byrne P, Ruggiero KJ, Rung A, Rutten BPF, Saccone NL, Sanchez SE, Schijven D, Seedat S, Seligowski AV, Seng JS, Sheerin CM, Silove D, Smith AK, Smoller JW, Sponheim SR, Stein DJ, Stevens JS, Teicher MH, Thompson WK, Trapido E, Uddin M, Ursano RJ, van den Heuvel LL, Van Hooff M, Vermetten E, Vinkers CH, Voisey J, Wang Y, Wang Z, Werge T, Williams MA, Williamson DE, Winternitz S, Wolf C, Wolf EJ, Yehuda R, Young KA, Young RM, Zhao H, Zoellner LA, Haas M, Lasseter H, Provost AC, Salem RM, Sebat J, Shaffer RA, Wu T, Ripke S, Daly MJ, Ressler KJ, Koenen KC, Stein MB, Nievergelt CM. PMID: 34865855; PMCID: PMC8917986.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    19. Cortical organoids model early brain development disrupted by 16p11.2 copy number variants in autism. Mol Psychiatry. 2021 12; 26(12):7560-7580. Urresti J, Zhang P, Moran-Losada P, Yu NK, Negraes PD, Trujillo CA, Antaki D, Amar M, Chau K, Pramod AB, Diedrich J, Tejwani L, Romero S, Sebat J, Yates Iii JR, Muotri AR, Iakoucheva LM. PMID: 34433918; PMCID: PMC8873019.
      View in: PubMed   Mentions: 36     Fields:    Translation:HumansCells
    20. Developmental and temporal characteristics of clonal sperm mosaicism. Cell. 2021 09 02; 184(18):4772-4783.e15. Yang X, Breuss MW, Xu X, Antaki D, James KN, Stanley V, Ball LL, George RD, Wirth SA, Cao B, Nguyen A, McEvoy-Venneri J, Chai G, Nahas S, Van Der Kraan L, Ding Y, Sebat J, Gleeson JG. PMID: 34388390; PMCID: PMC8496133.
      View in: PubMed   Mentions: 20     Fields:    Translation:HumansCells
    21. Autism-linked Cullin3 germline haploinsufficiency impacts cytoskeletal dynamics and cortical neurogenesis through RhoA signaling. Mol Psychiatry. 2021 07; 26(7):3586-3613. Amar M, Pramod AB, Yu NK, Herrera VM, Qiu LR, Moran-Losada P, Zhang P, Trujillo CA, Ellegood J, Urresti J, Chau K, Diedrich J, Chen J, Gutierrez J, Sebat J, Ramanathan D, Lerch JP, Yates JR, Muotri AR, Iakoucheva LM. PMID: 33727673; PMCID: PMC8443683.
      View in: PubMed   Mentions: 18     Fields:    Translation:AnimalsCells
    22. Inferring the molecular and phenotypic impact of amino acid variants with MutPred2. Nat Commun. 2020 11 20; 11(1):5918. Pejaver V, Urresti J, Lugo-Martinez J, Pagel KA, Lin GN, Nam HJ, Mort M, Cooper DN, Sebat J, Iakoucheva LM, Mooney SD, Radivojac P. PMID: 33219223; PMCID: PMC7680112.
      View in: PubMed   Mentions: 243     Fields:    Translation:Humans
    23. Identifying schizophrenia patients who carry pathogenic genetic copy number variants using standard clinical assessment: retrospective cohort study. Br J Psychiatry. 2020 05; 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: 5     Fields:    Translation:Humans
    24. The effects of common structural variants on 3D chromatin structure. BMC Genomics. 2020 Jan 30; 21(1):95. Shanta O, Noor A, Human Genome Structural Variation Consortium (HGSVC), Sebat J. PMID: 32000688; PMCID: PMC6990566.
      View in: PubMed   Mentions: 12     Fields:    Translation:HumansCells
    25. 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; PMCID: PMC7032648.
      View in: PubMed   Mentions: 48     Fields:    Translation:HumansCells
    26. 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; PMCID: PMC6883528.
      View in: PubMed   Mentions: 36     Fields:    Translation:HumansCells
    27. 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; PMCID: PMC6868241.
      View in: PubMed   Mentions: 41     Fields:    Translation:HumansCells
    28. 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; PMCID: PMC6988705.
      View in: PubMed   Mentions: 22     Fields:    Translation:HumansCells
    29. 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; PMCID: PMC8656349.
      View in: PubMed   Mentions: 43     Fields:    Translation:Humans
    30. Getting to the Cores of Autism. Cell. 2019 09 05; 178(6):1287-1298. Iakoucheva LM, Muotri AR, Sebat J. PMID: 31491383; PMCID: PMC7039308.
      View in: PubMed   Mentions: 114     Fields:    Translation:HumansAnimalsCells
    31. 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; PMCID: PMC6594643.
      View in: PubMed   Mentions: 25     Fields:    Translation:Humans
    32. 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; PMCID: PMC6745274.
      View in: PubMed   Mentions: 18     Fields:    Translation:HumansCTClinical Trials
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    68. 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; PMCID: PMC3388725.
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    69. 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, Wellcome Trust Case Control Consortium, 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; PMCID: PMC2951180.
      View in: PubMed   Mentions: 341     Fields:    Translation:HumansCells
    70. 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; PMCID: PMC2752127.
      View in: PubMed   Mentions: 294     Fields:    Translation:Humans
    71. 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; PMCID: PMC2920182.
      View in: PubMed   Mentions: 10     Fields:    Translation:Humans
    72. 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; PMCID: PMC2566806.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    73. 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; PMCID: PMC2703742.
      View in: PubMed   Mentions: 324     Fields:    Translation:HumansCells
    74. 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: 823     Fields:    Translation:HumansCells
    75. 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; PMCID: PMC2253955.
      View in: PubMed   Mentions: 393     Fields:    Translation:HumansCells
    76. 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; PMCID: PMC1933261.
      View in: PubMed   Mentions: 146     Fields:    Translation:Humans
    77. 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: 21     Fields:    Translation:Humans
    78. 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: 46     Fields:    Translation:Humans
    79. Completing the map of human genetic variation. Nature. 2007 May 10; 447(7141):161-5. Human Genome Structural Variation Working Group, 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; PMCID: PMC2685471.
      View in: PubMed   Mentions: 94     Fields:    Translation:Humans
    80. 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; PMCID: PMC2993504.
      View in: PubMed   Mentions: 1310     Fields:    Translation:HumansCells
    81. 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: 20     Fields:    Translation:Cells
    82. 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: 8     Fields:    Translation:Humans
    83. 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: 1000     Fields:    Translation:HumansCells
    84. 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; PMCID: PMC478600.
      View in: PubMed   Mentions: 12     Fields:    Translation:HumansAnimalsCells
    85. 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; PMCID: PMC403708.
      View in: PubMed   Mentions: 129     Fields:    Translation:HumansCells
    86. 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; PMCID: PMC169101.
      View in: PubMed   Mentions: 20     Fields:    Translation:Cells
    87. 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: 9     Fields:    Translation:Cells
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