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Jonathan Sebat

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Genes & Molecular Sequences

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Jacob J Michaelson; Aine Peoples; Yujian Shi; Balvindar Singh; Jun Wang; Wenting Wu; Kun Zhang; Hancheng Zheng; Natacha Akshoomoff; Abhishek Bhandari; Roser Corominas; Christina Corsello; Jasper Estabillo; Therese Gadomski; Athurva Gore; Douglas Greer; Madhusudan Gujral; Lilia M Iakoucheva; Minghan Jian; Xin Jin; Shuli Kang; Amnon Koren; Yingrui Li; Guan Ning Lin; Guangming Liu; Dheeraj Malhotra; Steven A McCarroll; Jonathan Sebat
Whole-genome sequencing in autism identifies hot spots for de novo germline mutation.
Amnon Koren; Jacob J Michaelson; James Nemesh; Paz Polak; Jonathan Sebat; Shamil Sunyaev; Steven A McCarroll
Differential relationship of DNA replication timing to different forms of human mutation and variation.
Jacob J Michaelson; Jonathan Sebat
forestSV: structural variant discovery through statistical learning.

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All Publications

2012: Jacob J Michaelson; Aine Peoples; Yujian Shi; Balvindar Singh; Jun Wang; Wenting Wu; Kun Zhang; Hancheng Zheng; Natacha Akshoomoff; Abhishek Bhandari; Roser Corominas; Christina Corsello; Jasper Estabillo; Therese Gadomski; Athurva Gore; Douglas Greer; Madhusudan Gujral; Lilia M Iakoucheva; Minghan Jian; Xin Jin; Shuli Kang; Amnon Koren; Yingrui Li; Guan Ning Lin; Guangming Liu; Dheeraj Malhotra; Steven A McCarroll; Jonathan Sebat
Whole-genome sequencing in autism identifies hot spots for de novo germline mutation.
Cell 2012;151(7):1431-42.
2012: Amnon Koren; Jacob J Michaelson; James Nemesh; Paz Polak; Jonathan Sebat; Shamil Sunyaev; Steven A McCarroll
Differential relationship of DNA replication timing to different forms of human mutation and variation.
American journal of human genetics 2012;91(6):1033-40.
2012: Jacob J Michaelson; Jonathan Sebat
forestSV: structural variant discovery through statistical learning.
Nature methods 2012;9(8):819-21.
2012: Dheeraj Malhotra; Jonathan Sebat
Genetics: Fish heads and human disease.
Nature 2012;485(7398):318-9.
2012: Dheeraj Malhotra; Jonathan Sebat
CNVs: harbingers of a rare variant revolution in psychiatric genetics.
Cell 2012;148(6):1223-41.
2011: Dheeraj Malhotra; Vladimir Vacic; Sven Cichon; Sydney Gary; Jacob J Michaelson; James B Potash; Vladimir Makarov; Verena Krause; Francis McMajon; Marcella Rietschel; Ellen Leibenluft; Elliot S Gershon; John R Kelsoe; Maria Karayiorgou; Seungtai Yoon; Anil Malhotra; Olga Krastoshevsky; Deborah L Levy; Aiden Corvin; Katherine E Burdick; Michael Gill; Shane McCarthy; Thomas G. Schulze; Markus M Nöthen; Abhishek Bhandari; Jonathan Sebat
High frequencies of de novo CNVs in bipolar disorder and schizophrenia.
Neuron 2011;72(6):951-63.
2011: Mamoru Kato; Anthony Leotta; Jonathan Sebat; Tatsuhiko Tsunoda; Seungtai Yoon; Naoya Hosono; Michael Q Zhang
Inferring haplotypes of copy number variations from high-throughput data with uncertainty.
G3 (Bethesda, Md.) 2011;1(1):35-42.
2011: Alex S Nord; Wendy Roeb; Diane E Dickel; Tom Walsh; Mary Kusenda; Kristen Lewis O'Connor; Dheeraj Malhotra; Shane E McCarthy; Sunday M Stray; Susan M Taylor; Jonathan Sebat; Bryan King; Mary-Claire King; Jon M McClellan
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
European journal of human genetics : EJHG 2011;19(6):727-31.
2011: Kristen J Brennand; Anthony Simone; Jessica Jou; Chelsea Gelboin-Burkhart; Ngoc Tran; Sarah Sangar; Yan Li; Yangling Mu; Gong Chen; Diana Yu; Shane McCarthy; Jonathan Sebat; Fred H Gage
Modelling schizophrenia using human induced pluripotent stem cells.
Nature 2011;473(7346):221-5.
2011: Vladimir Vacic; Shane McCarthy; Dheeraj Malhotra; Fiona Murray; Hsun-Hua Chou; Aine Peoples; Vladimir Makarov; Seungtai Yoon; Abhishek Bhandari; Roser Corominas; Lilia M Iakoucheva; Olga Krastoshevsky; Verena Krause; Verónica Larach-Walters; David K Welsh; David Craig; John R Kelsoe; Elliot S Gershon; Suzanne M Leal; Marie Dell Aquila; Derek W Morris; Michael Gill; Aiden Corvin; Paul A Insel; Jon McClellan; Mary-Claire King; Maria Karayiorgou; Deborah L Levy; Lynn E DeLisi; Jonathan Sebat
Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia.
Nature 2011;471(7339):499-503.
2011: Ryan E Mills; Klaudia Walter; Chip Stewart; Robert E Handsaker; Ken Chen; Can Alkan; Alexej Abyzov; Seungtai Chris Yoon; Kai Ye; R Keira Cheetham; Asif Chinwalla; Donald F Conrad; Yutao Fu; Fabian Grubert; Iman Hajirasouliha; Fereydoun Hormozdiari; Lilia M Iakoucheva; Zamin Iqbal; Shuli Kang; Jeffrey M Kidd; Miriam K Konkel; Joshua Korn; Ekta Khurana; Deniz Kural; Hugo Y K Lam; Jing Leng; Ruiqiang Li; Yingrui Li; Chang-Yun Lin; Ruibang Luo; Xinmeng Jasmine Mu; James Nemesh; Heather E Peckham; Tobias Rausch; Aylwyn Scally; Xinghua Shi; Michael P Stromberg; Adrian M Stütz; Alexander Eckehart Urban; Jerilyn A Walker; Jiantao Wu; Yujun Zhang; Zhengdong D Zhang; Mark A Batzer; Li Ding; Gabor T Marth; Gil McVean; Jonathan Sebat; Michael Snyder; Jun Wang; Qian Ye; Evan E Eichler; Mark B Gerstein; Matthew E Hurles; Charles Lee; Steven A McCarroll; Jan O Korbel
Mapping copy number variation by population-scale genome sequencing.
Nature 2011;470(7332):59-65.
2010: Xianjin Zhou; Zhiguo Nie; Amanda Roberts; Dongxian Zhang; Jonathan Sebat; Dheeraj Malhotra; John R Kelsoe; Mark A Geyer
Reduced NMDAR1 expression in the Sp4 hypomorphic mouse may contribute to endophenotypes of human psychiatric disorders.
Human molecular genetics 2010;19(19):3797-805.
2010: Tom Walsh; Sarah B Pierce; Danielle R Lenz; Zippora Brownstein; Orit Dagan-Rosenfeld; Hashem Shahin; Wendy Roeb; Shane McCarthy; Alex S Nord; Carlos R Gordon; Ziva Ben-Neriah; Jonathan Sebat; Moien Kanaan; Ming K Lee; Moshe Frydman; Mary-Claire King; Karen B Avraham
Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51.
American journal of human genetics 2010;87(1):101-9.
2010: Santhosh Girirajan; Jill A Rosenfeld; Gregory Cooper; Francesca Antonacci; Priscillia Siswara; Andy Itsara; Laura Vives; Tom Walsh; Shane E McCarthy; Carl Baker; Heather C Mefford; Jeffrey M Kidd; Sharon R Browning; Brian L Browning; Diane E Dickel; Deborah L Levy; Blake C Ballif; Kathryn Platky; Darren M Farber; Gordon C Gowans; Jessica J Wetherbee; Alexander Asamoah; David D Weaver; Paul R Mark; Jennifer Dickerson; Bhuwan P Garg; Sara A Ellingwood; Rosemarie Smith; Valerie C Banks; Wendy Smith; Marie T McDonald; Joe J Hoo; Beatrice N French; Cindy Hudson; John P Johnson; Jillian R Ozmore; John B Moeschler; Urvashi Surti; Luis F Escobar; Dima El-Khechen; Jerome L Gorski; Jennifer Kussmann; Bonnie Salbert; Yves Lacassie; Alisha Biser; Donna M McDonald-McGinn; Elaine H Zackai; Matthew A Deardorff; Tamim H Shaikh; Eric Haan; Kathryn L Friend; Marco Fichera; Corrado Romano; Jozef Gécz; Lynn E DeLisi; Jonathan Sebat; Mary-Claire King; Lisa Shaffer; Evan E Eichler
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.
Nature genetics 2010;42(3):203-9.
2010: Karolina Aberg; Daniel E Adkins; József Bukszár; Bradley T Webb; Stanley N Caroff; Jonathan Sebat; Scott Stroup; Ayman H Fanous; vladimir vladimirov; Joseph L McClay; Jeffrey A Lieberman; Patrick F Sullivan; Del D Miller; Edwin J C G van den Oord
Genomewide association study of movement-related adverse antipsychotic effects.
Biological psychiatry 2010;67(3):279-82.
2009: Jonathan Sebat; Deborah Levy; Shane E McCarthy
Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders.
Trends in genetics : TIG 2009;25(12):528-35.
2009: Shane E McCarthy; Vladimir Makarov; George Kirov; Anjene M Addington; Jon McClellan; Seungtai Yoon; Diana O Perkins; Diane E Dickel; Mary Kusenda; Olga Krastoshevsky; Verena Krause; Ravinesh A Kumar; Detelina Grozeva; Dheeraj Malhotra; Tom Walsh; Elaine H Zackai; Paige Kaplan; Jaya Ganesh; Ian D Krantz; Nancy B Spinner; Patricia Roccanova; Abhishek Bhandari; Kevin Pavon; B Lakshmi; Anthony Leotta; Jude Kendall; Yoon-Ha Lee; Vladimir Vacic; Sydney Gary; Lilia M Iakoucheva; Timothy J Crow; Susan L Christian; Jeffrey A Lieberman; Thomas Stroup; Terho Lehtimäki; Kaija Puura; Chad Haldeman-Englert; Justin Pearl; Meredith Goodell; Virginia L Willour; Pamela Derosse; Jo Steele; Layla Kassem; Jessica Wolff; Nisha Chitkara; Francis McMajon; Anil Malhotra; James B Potash; Thomas G. Schulze; Markus M Nöthen; Sven Cichon; Marcella Rietschel; Ellen Leibenluft; Vlad Kustanovich; Clara M Lajonchere; James S Sutcliffe; David Skuse; Michael Gill; Louise Gallagher; Nancy R Mendell; Nick Craddock; Michael J Owen; Michael C O'Donovan; Tamim H Shaikh; Ezra Susser; Lynn E Delisi; Patrick F Sullivan; Curtis K Deutsch; Judith Rapoport; Deborah Levy; Mary-Claire King; Jonathan Sebat
Microduplications of 16p11.2 are associated with schizophrenia.
Nature genetics 2009;41(11):1223-7.
2009: Seungtai Yoon; Zhenyu Xuan; Vladimir Makarov; Kenny Ye; Jonathan Sebat
Sensitive and accurate detection of copy number variants using read depth of coverage.
Genome research 2009;19(9):1586-92.
2008: Heather C Mefford; andrew sharp; Carl Baker; Andy Itsara; Zhaoshi Jiang; Karen Buysse; Shuwen Huang; Viv K Maloney; John A Crolla; Diana Baralle; Amanda Collins; Catherine Mercer; Koen Norga; Thomy de Ravel; koenraad devriendt; Ernie M H F Bongers; Nicole de Leeuw; William Reardon; stefania gimelli; Frederique Bena; Raoul Hennekam; Alison Male; Lorraine Gaunt; Jill Clayton-Smith; Ingrid Simonic; Soo Mi Park; Sarju G Mehta; Serena Nik-Zainal; C Geoffrey Woods; Helen V Firth; Georgina Parkin; Marco Fichera; Santina Reitano; Mariangela Lo Giudice; Kelly E Li; Iris Casuga; Adam Broomer; Bernard Conrad; Markus Schwerzmann; Lorenz Räber; Sabina Gallati; Pasquale Striano; Antonietta Coppola; John L Tolmie; Edward S Tobias; Chris Lilley; Lluis Armengol; Yves Spysschaert; Patrick Verloo; Anja De Coene; Linde Goossens; Geert Mortier; Frank Speleman; Ellen van Binsbergen; Marcel R Nelen; Ron Hochstenbach; Martin Poot; Louise Gallagher; Michael Gill; Jon McClellan; Mary-Claire King; Regina Regan; Cindy Skinner; Roger E Stevenson; Stylianos Antonarakis; Caifu Chen; Xavier Estivill; Björn Menten; Giorgio Gimelli; Susan Gribble; Stuart Schwartz; James S Sutcliffe; Tom Walsh; Samantha J L Knight; Jonathan Sebat; Corrado Romano; Charles E Schwartz; Joris Veltman; Bert B A de Vries; Joris R Vermeesch; John C K Barber; Lionel Willatt; May Tassabehji; Evan E Eichler
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.
The New England journal of medicine 2008;359(16):1685-99.
2008: Tom Walsh; Jon M McClellan; Shane E McCarthy; Anjené M Addington; Sarah B Pierce; Gregory Cooper; Alex S Nord; Mary Kusenda; Dheeraj Malhotra; Abhishek Bhandari; Sunday M Stray; Caitlin F Rippey; Patricia Roccanova; Vlad Makarov; B Lakshmi; Robert L Findling; Linmarie Sikich; Thomas Stromberg; Barry Merriman; Nitin Gogtay; Philip Butler; Kristen Eckstrand; Laila Noory; Peter Gochman; Robert Long; Zugen Chen; Sean Davis; Carl Baker; Evan E Eichler; Paul S Meltzer; Stanley F Nelson; Andrew Singleton; Ming K Lee; Judy Rapoport; Mary-Claire King; Jonathan Sebat
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia.
Science (New York, N.Y.) 2008;320(5875):539-43.
2008: M Kusenda; Jonathan Sebat
The role of rare structural variants in the genetics of autism spectrum disorders.
Cytogenetic and genome research 2008;123(1-4):36-43.
2008: Wonkuk Kim; Derek Gordon; Jonathan Sebat; Kenny Q Ye; Stephen J Finch
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.
2008: Maricela Alarcón; Brett S. Abrahams; Jennifer L Stone; Jacqueline Duvall; Julia V Perederiy; Jamee M Bomar; Jonathan Sebat; Michael Wigler; Christa Lese Martin; David Ledbetter; Stanley F Nelson; Rita M Cantor; Daniel Geschwind
Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene.
American journal of human genetics 2008;82(1):150-9.
2007: Robert Lucito; Shubha Suresh; Kimberly Walter; Akhilesh Pandey; B Lakshmi; Alexander Krasnitz; Jonathan Sebat; Michael Wigler; Alison P Klein; Kieran Brune; Emily Palmisano; Anirban Maitra; Michael Goggins; Ralph Hruban
Copy-number variants in patients with a strong family history of pancreatic cancer.
Cancer biology & therapy 2007;6(10):1592-9.
2007: Xiaoyue Zhao; Anthony Leotta; Vlad Kustanovich; Clara Lajonchere; Daniel Geschwind; Kiely Law; Paul Law; Shanping Qiu; Catherine Lord; Jonathan Sebat; Kenny Ye; Michael Wigler
A unified genetic theory for sporadic and inherited autism.
Proceedings of the National Academy of Sciences of the United States of America 2007;104(31):12831-6.
2007: Jonathan Sebat
Major changes in our DNA lead to major changes in our thinking.
Nature genetics 2007;39(7 Suppl):S3-5.
2007: Evan E Eichler; Deborah A Nickerson; David Altshuler; Anne M Bowcock; Lisa D Brooks; Nigel P Carter; Deanna M Church; Adam Felsenfeld; Mark Guyer; Charles Lee; James R Lupski; James C Mullikin; Jonathan Pritchard; Jonathan Sebat; Stephen T Sherry; Douglas Smith; David Valle; Robert H Waterston
Completing the map of human genetic variation.
Nature 2007;447(7141):161-5.
2007: Jonathan Sebat; B Lakshmi; Dheeraj Malhotra; Jennifer Troge; Christa Lese Martin; Tom Walsh; Boris Yamrom; Seungtai Yoon; Alex Krasnitz; Jude Kendall; Anthony Leotta; Deepa Pai; Ray Zhang; Yoon-Ha Lee; James Hicks; Sarah J Spence; Annette T Lee; Kaija Puura; Terho Lehtimäki; David Ledbetter; Peter K Gregersen; Joel Bregman; James S Sutcliffe; Vaidehi Jobanputra; Wendy Chung; Dorothy Warburton; Mary-Claire King; David Skuse; Daniel Geschwind; T Conrad Gilliam; Qian Ye; Michael Wigler
Strong association of de novo copy number mutations with autism.
Science (New York, N.Y.) 2007;316(5823):445-9.
2006: Nicholas Navin; Vladimir Grubor; Jim Hicks; Evan Leibu; Elizabeth Thomas; Jennifer Troge; Michael Riggs; Pär Lundin; Susanne Månér; Jonathan Sebat; Anders Zetterberg; Michael Wigler
PROBER: oligonucleotide FISH probe design software.
Bioinformatics (Oxford, England) 2006;22(19):2437-8.
2005: Vaidehi Jobanputra; Jonathan Sebat; Jennifer Troge; Wendy Chung; Kwame Anyane-Yeboa; Michael Wigler; Dorothy Warburton
Application of ROMA (representational oligonucleotide microarray analysis) to patients with cytogenetic rearrangements.
Genetics in medicine : official journal of the American College of Medical Genetics 2005;7(2):111-8.
2004: Jonathan Sebat; B Lakshmi; Jennifer Troge; Joan Alexander; Janet Young; Pär Lundin; Susanne Månér; Hillary Massa; Megan Walker; Maoyen Chi; Nicholas Navin; Robert Lucito; John Healy; James Hicks; Kenny Ye; Andrew Reiner; T Conrad Gilliam; Barbara J Trask; Nick Patterson; Anders Zetterberg; Michael Wigler
Large-scale copy number polymorphism in the human genome.
Science (New York, N.Y.) 2004;305(5683):525-8.
2004: Elizabeth E Thomas; Nathan Srebro; Jonathan Sebat; Nicholas Navin; John Healy; Bud Mishra; Michael Wigler
Distribution of short paired duplications in mammalian genomes.
Proceedings of the National Academy of Sciences of the United States of America 2004;101(28):10349-54.
2003: Robert Lucito; John Healy; Joan Alexander; Andrew Reiner; Diane Esposito; Maoyen Chi; Linda Rodgers; Amy Brady; Jonathan Sebat; Jennifer Troge; Joseph A West; Seth Rostan; Ken Nguyen; Scott Powers; Kenny Ye; Adam B Olshen; Venkatraman E Seshan; Larry Norton; Michael Wigler
Representational oligonucleotide microarray analysis: a high-resolution method to detect genome copy number variation.
Genome research 2003;13(10):2291-305.