Jonathan Sebat

Jonathan Sebat

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Jonathan Sebat

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

PLoS Comput Biol 2019 Jun 14;15(6):e1007112. Epub 2019 Jun 14.

School of Informatics, Computing, and Engineering, Indiana University, Bloomington, Indiana, United States of America.

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http://dx.doi.org/10.1371/journal.pcbi.1007112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6594643PMC
June 2019

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

Nat Commun 2019 04 16;10(1):1784. Epub 2019 Apr 16.

The Jackson Laboratory for Genomic Medicine, Farmington, CT, 06032, USA.

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http://www.nature.com/articles/s41467-018-08148-z
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http://dx.doi.org/10.1038/s41467-018-08148-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6467913PMC
April 2019

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

Am J Psychiatry 2019 Jan 5;176(1):29-35. Epub 2018 Nov 5.

From the Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm; the Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Mass.; the Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston; the MRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, United Kingdom; the Department of Psychiatry, Harvard Medical School, and Massachusetts General Hospital, Boston; the Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetics Research, Massachusetts General Hospital, Boston; the Departments of Genetics and Psychiatry, University of North Carolina, Chapel Hill; the Departments of Psychiatry and Cellular and Molecular Medicine, University of California, San Diego; and the Virginia Institute for Psychiatric and Behavioral Genetics, Department of Psychiatry, Virginia Commonwealth University, Richmond.

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http://ajp.psychiatryonline.org/doi/10.1176/appi.ajp.2018.17
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http://dx.doi.org/10.1176/appi.ajp.2018.17040467DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6408268PMC
January 2019

Modeling the Interplay Between Neurons and Astrocytes in Autism Using Human Induced Pluripotent Stem Cells.

Biol Psychiatry 2018 04 3;83(7):569-578. Epub 2017 Oct 3.

Department of Microbiology, Institute of Biomedical Sciences, University of São Paulo, São Paulo, São Paulo, Brazil; Department of Surgery, School of Veterinary Medicine, University of São Paulo, São Paulo, São Paulo, Brazil; Department of Obstetrics, School of Arts, Sciences and Humanities, University of São Paulo, São Paulo, São Paulo, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.biopsych.2017.09.021DOI Listing
April 2018

Divergent Levels of Marker Chromosomes in an hiPSC-Based Model of Psychosis.

Stem Cell Reports 2017 03 16;8(3):519-528. Epub 2017 Feb 16.

Departments of Neuroscience, Icahn School of Medicine at Mount Sinai, 1425 Madison Avenue, New York, NY 10029, USA; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, 1425 Madison Avenue, New York, NY 10029, USA; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, 1425 Madison Avenue, New York, NY 10029, USA. Electronic address:

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http://dx.doi.org/10.1016/j.stemcr.2017.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5355568PMC
March 2017

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

Authors:
Christian R Marshall Daniel P Howrigan Daniele Merico Bhooma Thiruvahindrapuram Wenting Wu Douglas S Greer Danny Antaki Aniket Shetty Peter A Holmans Dalila Pinto Madhusudan Gujral William M Brandler Dheeraj Malhotra Zhouzhi Wang Karin V Fuentes Fajarado Michelle S Maile Stephan Ripke Ingrid Agartz Margot Albus Madeline Alexander Farooq Amin Joshua Atkins Silviu A Bacanu Richard A Belliveau Sarah E Bergen Marcelo Bertalan Elizabeth Bevilacqua Tim B Bigdeli Donald W Black Richard Bruggeman Nancy G Buccola Randy L Buckner Brendan Bulik-Sullivan William Byerley Wiepke Cahn Guiqing Cai Murray J Cairns Dominique Campion Rita M Cantor Vaughan J Carr Noa Carrera Stanley V Catts Kimberley D Chambert Wei Cheng C Robert Cloninger David Cohen Paul Cormican Nick Craddock Benedicto Crespo-Facorro James J Crowley David Curtis Michael Davidson Kenneth L Davis Franziska Degenhardt Jurgen Del Favero Lynn E DeLisi Dimitris Dikeos Timothy Dinan Srdjan Djurovic Gary Donohoe Elodie Drapeau Jubao Duan Frank Dudbridge Peter Eichhammer Johan Eriksson Valentina Escott-Price Laurent Essioux Ayman H Fanous Kai-How Farh Martilias S Farrell Josef Frank Lude Franke Robert Freedman Nelson B Freimer Joseph I Friedman Andreas J Forstner Menachem Fromer Giulio Genovese Lyudmila Georgieva Elliot S Gershon Ina Giegling Paola Giusti-Rodríguez Stephanie Godard Jacqueline I Goldstein Jacob Gratten Lieuwe de Haan Marian L Hamshere Mark Hansen Thomas Hansen Vahram Haroutunian Annette M Hartmann Frans A Henskens Stefan Herms Joel N Hirschhorn Per Hoffmann Andrea Hofman Hailiang Huang Masashi Ikeda Inge Joa Anna K Kähler René S Kahn Luba Kalaydjieva Juha Karjalainen David Kavanagh Matthew C Keller Brian J Kelly James L Kennedy Yunjung Kim James A Knowles Bettina Konte Claudine Laurent Phil Lee S Hong Lee Sophie E Legge Bernard Lerer Deborah L Levy Kung-Yee Liang Jeffrey Lieberman Jouko Lönnqvist Carmel M Loughland Patrik K E Magnusson Brion S Maher Wolfgang Maier Jacques Mallet Manuel Mattheisen Morten Mattingsdal Robert W McCarley Colm McDonald Andrew M McIntosh Sandra Meier Carin J Meijer Ingrid Melle Raquelle I Mesholam-Gately Andres Metspalu Patricia T Michie Lili Milani Vihra Milanova Younes Mokrab Derek W Morris Bertram Müller-Myhsok Kieran C Murphy Robin M Murray Inez Myin-Germeys Igor Nenadic Deborah A Nertney Gerald Nestadt Kristin K Nicodemus Laura Nisenbaum Annelie Nordin Eadbhard O'Callaghan Colm O'Dushlaine Sang-Yun Oh Ann Olincy Line Olsen F Anthony O'Neill Jim Van Os Christos Pantelis George N Papadimitriou Elena Parkhomenko Michele T Pato Tiina Paunio Diana O Perkins Tune H Pers Olli Pietiläinen Jonathan Pimm Andrew J Pocklington John Powell Alkes Price Ann E Pulver Shaun M Purcell Digby Quested Henrik B Rasmussen Abraham Reichenberg Mark A Reimers Alexander L Richards Joshua L Roffman Panos Roussos Douglas M Ruderfer Veikko Salomaa Alan R Sanders Adam Savitz Ulrich Schall Thomas G Schulze Sibylle G Schwab Edward M Scolnick Rodney J Scott Larry J Seidman Jianxin Shi Jeremy M Silverman Jordan W Smoller Erik Söderman Chris C A Spencer Eli A Stahl Eric Strengman Jana Strohmaier T Scott Stroup Jaana Suvisaari Dragan M Svrakic Jin P Szatkiewicz Srinivas Thirumalai Paul A Tooney Juha Veijola Peter M Visscher John Waddington Dermot Walsh Bradley T Webb Mark Weiser Dieter B Wildenauer Nigel M Williams Stephanie Williams Stephanie H Witt Aaron R Wolen Brandon K Wormley Naomi R Wray Jing Qin Wu Clement C Zai Rolf Adolfsson Ole A Andreassen Douglas H R Blackwood Elvira Bramon Joseph D Buxbaum Sven Cichon David A Collier Aiden Corvin Mark J Daly Ariel Darvasi Enrico Domenici Tõnu Esko Pablo V Gejman Michael Gill Hugh Gurling Christina M Hultman Nakao Iwata Assen V Jablensky Erik G Jönsson Kenneth S Kendler George Kirov Jo Knight Douglas F Levinson Qingqin S Li Steven A McCarroll Andrew McQuillin Jennifer L Moran Bryan J Mowry Markus M Nöthen Roel A Ophoff Michael J Owen Aarno Palotie Carlos N Pato Tracey L Petryshen Danielle Posthuma Marcella Rietschel Brien P Riley Dan Rujescu Pamela Sklar David St Clair James T R Walters Thomas Werge Patrick F Sullivan Michael C O'Donovan Stephen W Scherer Benjamin M Neale Jonathan Sebat

Nat Genet 2017 01 21;49(1):27-35. Epub 2016 Nov 21.

Beyster Center for Psychiatric Genomics, University of California, San Diego, La Jolla, California, USA.

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http://dx.doi.org/10.1038/ng.3725DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5737772PMC
January 2017

Frequency and Complexity of De Novo Structural Mutation in Autism.

Am J Hum Genet 2016 Apr 24;98(4):667-79. Epub 2016 Mar 24.

Beyster Center for Genomics of Psychiatric Diseases, University of California, San Diego, La Jolla, CA 92093, USA; Department of Psychiatry, University of California, San Diego, La Jolla, CA 92093, USA; Department of Cellular and Molecular Medicine, University of California, San Diego, La Jolla, CA 92093, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.02.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4833290PMC
April 2016

The Influence of Microdeletions and Microduplications of 16p11.2 on Global Transcription Profiles.

J Child Neurol 2015 Dec 20;30(14):1947-53. Epub 2015 Sep 20.

Beyster Center for Genomics of Psychiatric Diseases, Department of Psychiatry, and Department of Cellular and Molecular Medicine, University of California, San Diego, La Jolla, CA, USA

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http://dx.doi.org/10.1177/0883073815602066DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4739844PMC
December 2015

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

Nature 2015 Oct;526(7571):75-81

European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Meyerhofstr. 1, 69117 Heidelberg, Germany.

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http://dx.doi.org/10.1038/nature15394DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4617611PMC
October 2015

From de novo mutations to personalized therapeutic interventions in autism.

Annu Rev Med 2015 ;66:487-507

Beyster Center for Genomics of Psychiatric Diseases.

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http://www.annualreviews.org/doi/10.1146/annurev-med-091113-
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http://dx.doi.org/10.1146/annurev-med-091113-024550DOI Listing
September 2015

forestSV: structural variant discovery through statistical learning.

Nat Methods 2012 Jul 1;9(8):819-21. Epub 2012 Jul 1.

Beyster Center for Molecular Genomics of Neuropsychiatric Diseases, University of California, San Diego, La Jolla, California, USA.

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http://www.nature.com/articles/nmeth.2085
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http://dx.doi.org/10.1038/nmeth.2085DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3427657PMC
July 2012

Genetics: Fish heads and human disease.

Nature 2012 May 16;485(7398):318-9. Epub 2012 May 16.

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http://dx.doi.org/10.1038/485318aDOI Listing
May 2012

CNVs: harbingers of a rare variant revolution in psychiatric genetics.

Cell 2012 Mar;148(6):1223-41

Beyster Center for Genomics of Psychiatric Diseases, University of California, San Diego, La Jolla, CA 1020103, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S00928674120027
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http://dx.doi.org/10.1016/j.cell.2012.02.039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3351385PMC
March 2012

Modelling schizophrenia using human induced pluripotent stem cells.

Nature 2011 May 13;473(7346):221-5. Epub 2011 Apr 13.

Salk Institute for Biological Studies, Laboratory of Genetics, 10010 North Torrey Pines Road, La Jolla California 92037, USA.

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http://dx.doi.org/10.1038/nature09915DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3392969PMC
May 2011

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

Hum Mol Genet 2010 Oct 15;19(19):3797-805. Epub 2010 Jul 15.

Department of Psychiatry, University of California, San Diego, 9500 Gilman Drive, La Jolla, CA 92093-0603, USA.

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https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/
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http://dx.doi.org/10.1093/hmg/ddq298DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2935857PMC
October 2010

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

Genome Res 2009 Sep 5;19(9):1586-92. Epub 2009 Aug 5.

Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA.

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http://genome.cshlp.org/cgi/doi/10.1101/gr.092981.109
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http://dx.doi.org/10.1101/gr.092981.109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2752127PMC
September 2009

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

N Engl J Med 2008 Oct 10;359(16):1685-99. Epub 2008 Sep 10.

University of Washington School of Medicine, Seattle 98195, USA.

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http://dx.doi.org/10.1056/NEJMoa0805384DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2703742PMC
October 2008

A unified genetic theory for sporadic and inherited autism.

Proc Natl Acad Sci U S A 2007 Jul 25;104(31):12831-6. Epub 2007 Jul 25.

Cold Spring Harbor Laboratory, 1 Bungtown Road, Cold Spring Harbor, NY 11724, USA.

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http://www.pnas.org/cgi/doi/10.1073/pnas.0705803104
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http://dx.doi.org/10.1073/pnas.0705803104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1933261PMC
July 2007

Major changes in our DNA lead to major changes in our thinking.

Authors:
Jonathan Sebat

Nat Genet 2007 Jul;39(7 Suppl):S3-5

Cold Spring Harbor Laboratory, One Bungtown Road, Cold Spring Harbor, New York 11724, USA.

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http://www.nature.com/doifinder/10.1038/ng2095
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http://dx.doi.org/10.1038/ng2095DOI Listing
July 2007

PROBER: oligonucleotide FISH probe design software.

Bioinformatics 2006 Oct 1;22(19):2437-8. Epub 2006 Jun 1.

Watson School of Biological Sciences, Cold Spring Harbor, NY 11724, USA.

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https://academic.oup.com/bioinformatics/article-lookup/doi/1
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http://dx.doi.org/10.1093/bioinformatics/btl273DOI Listing
October 2006

Application of ROMA (representational oligonucleotide microarray analysis) to patients with cytogenetic rearrangements.

Genet Med 2005 Feb;7(2):111-8

Department of Obstetrics and Gynecology, Columbia University Medical Center, New York, NY, USA.

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http://dx.doi.org/10.109701.GIM.0000153661.11110.FBDOI Listing
February 2005

Distribution of short paired duplications in mammalian genomes.

Proc Natl Acad Sci U S A 2004 Jul 6;101(28):10349-54. Epub 2004 Jul 6.

Cold Spring Harbor Laboratory, 1 Bungtown Road, Cold Spring Harbor, NY 11724, USA.

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http://dx.doi.org/10.1073/pnas.0403727101DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC478600PMC
July 2004

Metagenomic profiling: microarray analysis of an environmental genomic library.

Appl Environ Microbiol 2003 Aug;69(8):4927-34

Environmental Research Institute, University of Idaho, Moscow, Idaho 83844-1052, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC169101PMC
http://dx.doi.org/10.1128/aem.69.8.4927-4934.2003DOI Listing
August 2003

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

Environmental Biotechnology Institute, University of Idaho, Moscow 83844-1052, USA.

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June 2002