| Year |
Citation |
Score |
| 2020 |
Shanta O, Noor A, Sebat J. The effects of common structural variants on 3D chromatin structure. Bmc Genomics. 21: 95. PMID 32000688 DOI: 10.1186/S12864-020-6516-1 |
0.331 |
|
| 2020 |
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, et al. Identifying schizophrenia patients who carry pathogenic genetic copy number variants using standard clinical assessment: retrospective cohort study. The British Journal of Psychiatry : the Journal of Mental Science. 1-5. PMID 31964429 DOI: 10.1192/Bjp.2019.262 |
0.348 |
|
| 2019 |
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, ... ... Sebat J, et al. Autism risk in offspring can be assessed through quantification of male sperm mosaicism. Nature Medicine. PMID 31873310 DOI: 10.1038/S41591-019-0711-0 |
0.339 |
|
| 2019 |
Wells A, Heckerman D, Torkamani A, Yin L, Sebat J, Ren B, Telenti A, di Iulio J. Ranking of non-coding pathogenic variants and putative essential regions of the human genome. Nature Communications. 10: 5241. PMID 31748530 DOI: 10.1038/S41467-019-13212-3 |
0.347 |
|
| 2019 |
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, ... ... Sebat J, et al. Oligogenic Effects of 16p11.2 Copy-Number Variation on Craniofacial Development. Cell Reports. 28: 3320-3328.e4. PMID 31553903 DOI: 10.1016/J.Celrep.2019.08.071 |
0.357 |
|
| 2019 |
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, ... ... Sebat J, et al. A framework for the investigation of rare genetic disorders in neuropsychiatry. Nature Medicine. PMID 31548702 DOI: 10.1038/S41591-019-0581-5 |
0.345 |
|
| 2019 |
Iakoucheva LM, Muotri AR, Sebat J. Getting to the Cores of Autism Cell. 178: 1287-1298. PMID 31491383 DOI: 10.1016/J.Cell.2019.07.037 |
0.342 |
|
| 2019 |
Bodkin JA, Coleman MJ, Godfrey LJ, Carvalho CMB, Morgan CJ, Suckow RF, Anderson T, Ongur D, Kaufman MJ, Lewandowski KE, Siegel AJ, Waldstreicher E, Grochowski CM, Javitt DC, Rujescu D, ... ... Sebat J, et al. Targeted Treatment of Individuals With Psychosis Carrying a Copy Number Variant Containing a Genomic Triplication of the Glycine Decarboxylase Gene. Biological Psychiatry. PMID 31279534 DOI: 10.1016/J.Biopsych.2019.04.031 |
0.356 |
|
| 2019 |
Pagel KA, Antaki D, Lian A, Mort M, Cooper DN, Sebat J, Iakoucheva LM, Mooney SD, Radivojac P. Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genome. Plos Computational Biology. 15: e1007112. PMID 31199787 DOI: 10.1371/Journal.Pcbi.1007112 |
0.378 |
|
| 2019 |
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, ... ... Sebat J, et al. Multi-platform discovery of haplotype-resolved structural variation in human genomes. Nature Communications. 10: 1784. PMID 30992455 DOI: 10.1038/S41467-018-08148-Z |
0.37 |
|
| 2019 |
Charney A, Sebat J, MacDonald J. Rare Copy Number Variation And Common Polygenic Risk In Bipolar Disorder Subtypes European Neuropsychopharmacology. 29. DOI: 10.1016/J.Euroneuro.2019.07.039 |
0.307 |
|
| 2019 |
Zayats T, Martin J, Thiruvahindrapuram B, Wang Z, Howrigan D, Shanta O, Neale B, Sebat J. A Contribution Of Rare Copy Number Variations To The Development Of Attention Deficit Hyperactivity Disorder: Genome-Wide Meta-Analyses In 12548 Individuals European Neuropsychopharmacology. 29. DOI: 10.1016/J.Euroneuro.2018.07.045 |
0.334 |
|
| 2019 |
Sebat J, Agrawal A, Børglum A. New Findings From Young Investigators In The Psychiatric Genomics Consortium European Neuropsychopharmacology. 29. DOI: 10.1016/J.Euroneuro.2018.07.004 |
0.318 |
|
| 2018 |
Bergen SE, Ploner A, Howrigan D, O'Donovan MC, Smoller JW, Sullivan PF, Sebat J, Neale B, Kendler KS. Joint Contributions of Rare Copy Number Variants and Common SNPs to Risk for Schizophrenia. The American Journal of Psychiatry. appiajp201817040467. PMID 30392412 DOI: 10.1176/Appi.Ajp.2018.17040467 |
0.31 |
|
| 2018 |
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. Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes. Human Mutation. PMID 29696747 DOI: 10.1002/Humu.23537 |
0.368 |
|
| 2018 |
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, ... ... Sebat J, et al. Paternally inherited cis-regulatory structural variants are associated with autism. Science (New York, N.Y.). 360: 327-331. PMID 29674594 DOI: 10.1126/Science.Aan2261 |
0.362 |
|
| 2018 |
Antaki D, Brandler WM, Sebat J. SV2: accurate structural variation genotyping and de novo mutation detection from whole genomes. Bioinformatics. 34: 1774-1777. PMID 29300834 DOI: 10.1093/Bioinformatics/Btx813 |
0.336 |
|
| 2017 |
Pagel KA, Pejaver V, Lin GN, Nam HJ, Mort M, Cooper DN, Sebat J, Iakoucheva LM, Mooney SD, Radivojac P. When loss-of-function is loss of function: assessing mutational signatures and impact of loss-of-function genetic variants. Bioinformatics (Oxford, England). 33: i389-i398. PMID 28882004 DOI: 10.1093/Bioinformatics/Btx272 |
0.314 |
|
| 2017 |
Levy D, Coleman M, Godfrey L, Morgan C, Sebat J, Ongur D, McCarthy S, Malhotra D, Vuckovic A, Smith K, Kirchhoff C, Suckow R, Coyle J, Rudolph U, Goff D, et al. SU93. Targeted Treatment of a Genetic Mutation in Glycine Decarboxylase With d-Cycloserine in Psychotic Disorders Schizophrenia Bulletin. 43: S194-S195. DOI: 10.1093/Schbul/Sbx024.089 |
0.303 |
|
| 2016 |
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, ... ... Sebat J, et al. Frequency and Complexity of De Novo Structural Mutation in Autism. American Journal of Human Genetics. PMID 27018473 DOI: 10.1016/J.Ajhg.2016.02.018 |
0.395 |
|
| 2015 |
Sudmant PH, Rausch T, Gardner EJ, Handsaker RE, Abyzov A, Huddleston J, Zhang Y, Ye K, Jun G, Hsi-Yang Fritz M, Konkel MK, Malhotra A, Stütz AM, Shi X, Paolo Casale F, ... ... Sebat J, et al. An integrated map of structural variation in 2,504 human genomes. Nature. 526: 75-81. PMID 26432246 DOI: 10.1038/Nature15394 |
0.382 |
|
| 2015 |
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. The Influence of Microdeletions and Microduplications of 16p11.2 on Global Transcription Profiles. Journal of Child Neurology. PMID 26391891 DOI: 10.1177/0883073815602066 |
0.334 |
|
| 2015 |
Lin GN, Corominas R, Lemmens I, Yang X, Tavernier J, Hill DE, Vidal M, Sebat J, Iakoucheva LM. Spatiotemporal 16p11.2 protein network implicates cortical late mid-fetal brain development and KCTD13-Cul3-RhoA pathway in psychiatric diseases. Neuron. 85: 742-54. PMID 25695269 DOI: 10.1016/J.Neuron.2015.01.010 |
0.324 |
|
| 2015 |
Brandler WM, Sebat J. From De Novo Mutations to Personalized Therapeutic Interventions in Autism Annual Review of Medicine. 66: 487-507. PMID 25587659 DOI: 10.1146/Annurev-Med-091113-024550 |
0.368 |
|
| 2014 |
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, et al. Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia. Biological Psychiatry. 75: 371-7. PMID 23871472 DOI: 10.1016/J.Biopsych.2013.05.040 |
0.365 |
|
| 2013 |
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. Formation of chimeric genes by copy-number variation as a mutational mechanism in schizophrenia. American Journal of Human Genetics. 93: 697-710. PMID 24094746 DOI: 10.1016/J.Ajhg.2013.09.004 |
0.356 |
|
| 2013 |
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, ... ... Sebat J, et al. Implication of a rare deletion at distal 16p11.2 in schizophrenia. Jama Psychiatry. 70: 253-60. PMID 23325106 DOI: 10.1001/2013.Jamapsychiatry.71 |
0.373 |
|
| 2012 |
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, ... ... Sebat J, et al. Whole-genome sequencing in autism identifies hot spots for de novo germline mutation. Cell. 151: 1431-42. PMID 23260136 DOI: 10.1016/J.Cell.2012.11.019 |
0.382 |
|
| 2012 |
Koren A, Polak P, Nemesh J, Michaelson JJ, Sebat J, Sunyaev SR, McCarroll SA. Differential relationship of DNA replication timing to different forms of human mutation and variation. American Journal of Human Genetics. 91: 1033-40. PMID 23176822 DOI: 10.1016/J.Ajhg.2012.10.018 |
0.34 |
|
| 2012 |
Malhotra D, Sebat J. Genetics: Fish heads and human disease. Nature. 485: 318-319. PMID 22596152 DOI: 10.1038/485318A |
0.42 |
|
| 2012 |
Malhotra D, Sebat J. CNVs: harbingers of a rare variant revolution in psychiatric genetics. Cell. 148: 1223-1241. PMID 22424231 DOI: 10.1016/J.Cell.2012.02.039 |
0.407 |
|
| 2011 |
Kato M, Yoon S, Hosono N, Leotta A, Sebat J, Tsunoda T, Zhang MQ. Inferring haplotypes of copy number variations from high-throughput data with uncertainty. G3 (Bethesda, Md.). 1: 35-42. PMID 22384316 DOI: 10.1534/G3.111.000174 |
0.307 |
|
| 2011 |
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, ... ... Sebat J, et al. High frequencies of de novo CNVs in bipolar disorder and schizophrenia. Neuron. 72: 951-63. PMID 22196331 DOI: 10.1016/J.Neuron.2011.11.007 |
0.349 |
|
| 2011 |
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. Modelling schizophrenia using human induced pluripotent stem cells. Nature. 473: 221-5. PMID 21490598 DOI: 10.1038/Nature09915 |
0.314 |
|
| 2011 |
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. Reduced transcript expression of genes affected by inherited and de novo CNVs in autism. European Journal of Human Genetics : Ejhg. 19: 727-31. PMID 21448237 DOI: 10.1038/Ejhg.2011.24 |
0.377 |
|
| 2011 |
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, ... ... Sebat J, et al. Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia. Nature. 471: 499-503. PMID 21346763 DOI: 10.1038/Nature09884 |
0.348 |
|
| 2011 |
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, ... ... Sebat J, et al. Mapping copy number variation by population-scale genome sequencing. Nature. 470: 59-65. PMID 21293372 DOI: 10.1038/Nature09708 |
0.357 |
|
| 2010 |
Zhou X, Nie Z, Roberts A, Zhang D, Sebat J, Malhotra D, Kelsoe JR, Geyer MA. Reduced NMDAR1 expression in the Sp4 hypomorphic mouse may contribute to endophenotypes of human psychiatric disorders. Human Molecular Genetics. 19: 3797-805. PMID 20634195 DOI: 10.1093/Hmg/Ddq298 |
0.31 |
|
| 2010 |
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, ... ... Sebat J, et al. A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nature Genetics. 42: 203-9. PMID 20154674 DOI: 10.1038/Ng.534 |
0.327 |
|
| 2010 |
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. Genomewide association study of movement-related adverse antipsychotic effects. Biological Psychiatry. 67: 279-82. PMID 19875103 DOI: 10.1016/J.Biopsych.2009.08.036 |
0.304 |
|
| 2009 |
Sebat J, Levy DL, McCarthy SE. Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders. Trends in Genetics : Tig. 25: 528-35. PMID 19883952 DOI: 10.1016/J.Tig.2009.10.004 |
0.371 |
|
| 2009 |
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, ... ... Sebat J, et al. Microduplications of 16p11.2 are associated with schizophrenia. Nature Genetics. 41: 1223-7. PMID 19855392 DOI: 10.1038/Ng.474 |
0.327 |
|
| 2009 |
Yoon S, Xuan Z, Makarov V, Ye K, Sebat J. Sensitive and accurate detection of copy number variants using read depth of coverage. Genome Research. 19: 1586-92. PMID 19657104 DOI: 10.1101/Gr.092981.109 |
0.364 |
|
| 2008 |
Kusenda M, Sebat J. The role of rare structural variants in the genetics of autism spectrum disorders Cytogenetic and Genome Research. 123: 36-43. PMID 19287137 DOI: 10.1159/000184690 |
0.389 |
|
| 2008 |
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, ... ... Sebat J, et al. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. The New England Journal of Medicine. 359: 1685-99. PMID 18784092 DOI: 10.1056/Nejmoa0805384 |
0.323 |
|
| 2008 |
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, ... ... Sebat J, et al. Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science (New York, N.Y.). 320: 539-43. PMID 18369103 DOI: 10.1126/Science.1155174 |
0.379 |
|
| 2008 |
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. Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. American Journal of Human Genetics. 82: 150-9. PMID 18179893 DOI: 10.1016/J.Ajhg.2007.09.005 |
0.349 |
|
| 2007 |
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. Copy-number variants in patients with a strong family history of pancreatic cancer. Cancer Biology & Therapy. 6: 1592-9. PMID 17912030 DOI: 10.4161/Cbt.6.10.4725 |
0.318 |
|
| 2007 |
Sebat J. Major changes in our DNA lead to major changes in our thinking. Nature Genetics. 39. PMID 17597778 DOI: 10.1038/Ng2095 |
0.368 |
|
| 2007 |
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, et al. Completing the map of human genetic variation. Nature. 447: 161-5. PMID 17495918 DOI: 10.1038/447161A |
0.362 |
|
| 2007 |
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, et al. Strong association of de novo copy number mutations with autism. Science (New York, N.Y.). 316: 445-9. PMID 17363630 DOI: 10.1126/Science.1138659 |
0.42 |
|
| 2006 |
Navin N, Grubor V, Hicks J, Leibu E, Thomas E, Troge J, Riggs M, Lundin P, Månér S, Sebat J, Zetterberg A, Wigler M. PROBER: oligonucleotide FISH probe design software. Bioinformatics (Oxford, England). 22: 2437-8. PMID 16740623 DOI: 10.1093/Bioinformatics/Btl273 |
0.331 |
|
| 2006 |
Sebat J, Lakshmi B, Troge J, Martin C, Spence S, Ledbetter D, Gilliam TC, Ye K, Geschwind D, Sutcliffe J, Wigler MH. High-resolution analysis of genome copy number variation in autism International Journal of Developmental Neuroscience. 24: 474. DOI: 10.1016/J.Ijdevneu.2006.09.013 |
0.347 |
|
| 2005 |
Jobanputra V, Sebat J, Troge J, Chung W, Anyane-Yeboa K, Wigler M, Warburton D. Application of ROMA (representational oligonucleotide microarray analysis) to patients with cytogenetic rearrangements. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 7: 111-8. PMID 15714078 DOI: 10.1097/01.Gim.0000153661.11110.Fb |
0.317 |
|
| 2004 |
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, et al. Large-scale copy number polymorphism in the human genome. Science (New York, N.Y.). 305: 525-8. PMID 15273396 DOI: 10.1126/Science.1098918 |
0.372 |
|
| 2004 |
Thomas EE, Srebro N, Sebat J, Navin N, Healy J, Mishra B, Wigler M. Distribution of short paired duplications in mammalian genomes. Proceedings of the National Academy of Sciences of the United States of America. 101: 10349-54. PMID 15240876 DOI: 10.1073/Pnas.0403727101 |
0.324 |
|
| 2003 |
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, et al. Representational oligonucleotide microarray analysis: a high-resolution method to detect genome copy number variation. Genome Research. 13: 2291-305. PMID 12975311 DOI: 10.1101/Gr.1349003 |
0.358 |
|
| 2003 |
Sebat JL, Colwell FS, Crawford RL. Metagenomic profiling: microarray analysis of an environmental genomic library. Applied and Environmental Microbiology. 69: 4927-34. PMID 12902288 DOI: 10.1128/Aem.69.8.4927-4934.2003 |
0.56 |
|
| 2002 |
Cortese MS, Paszczynski A, Lewis TA, Sebat JL, Borek V, Crawford RL. Metal chelating properties of pyridine-2,6-bis(thiocarboxylic acid) produced by Pseudomonas spp. and the biological activities of the formed complexes. Biometals : An International Journal On the Role of Metal Ions in Biology, Biochemistry, and Medicine. 15: 103-20. PMID 12046919 DOI: 10.1023/A:1015241925322 |
0.676 |
|
| 2001 |
Sebat JL, Paszczynski AJ, Cortese MS, Crawford RL. Antimicrobial properties of pyridine-2,6-dithiocarboxylic acid, a metal chelator produced by Pseudomonas spp. Applied and Environmental Microbiology. 67: 3934-42. PMID 11525988 DOI: 10.1128/Aem.67.9.3934-3942.2001 |
0.685 |
|
| 2000 |
Lewis TA, Cortese MS, Sebat JL, Green TL, Lee CH, Crawford RL. A Pseudomonas stutzeri gene cluster encoding the biosynthesis of the CCl4-dechlorination agent pyridine-2,6-bis(thiocarboxylic acid). Environmental Microbiology. 2: 407-16. PMID 11234929 DOI: 10.1046/J.1462-2920.2000.00122.X |
0.699 |
|
| Low-probability matches (unlikely to be authored by this person) |
| 2014 |
Bergen SE, Smoller J, Sebat J, Purcell S, Neale B, Kendler K. 5:45 Pm The Genetic Architecture Of Schizophrenia: How Do Cnvs And Polygenic Scores Contribute To Disease Risk? Schizophrenia Research. 153. DOI: 10.1016/S0920-9964(14)70198-7 |
0.296 |
|
| 2014 |
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, ... ... Sebat J, et al. Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. Nature Communications. 5: 3650. PMID 24722188 DOI: 10.1038/Ncomms4650 |
0.292 |
|
| 2012 |
Michaelson JJ, Sebat J. ForestSV: Structural variant discovery through statistical learning Nature Methods. 9: 819-821. PMID 22751202 DOI: 10.1038/Nmeth.2085 |
0.29 |
|
| 2011 |
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, ... ... Sebat J, et al. Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia (Nature (2011) 471 (499-501)) Nature. 474: 114. DOI: 10.1038/Nature10088 |
0.289 |
|
| 2017 |
Tcw J, Carvalho CM, Yuan B, Gu S, Altheimer AN, McCarthy S, Malhotra D, Sebat J, Siegel AJ, Rudolph U, Lupski JR, Levy DL, Brennand KJ. Divergent Levels of Marker Chromosomes in an hiPSC-Based Model of Psychosis. Stem Cell Reports. PMID 28216146 DOI: 10.1016/J.Stemcr.2017.01.010 |
0.288 |
|
| 2020 |
Levy D, Morgan C, Bodkin JA, Coleman M, Godfrey L, Carvalho C, Grochowski C, Kaufman M, Jensen JE, TCW J, Brennand K, McCarthy S, Malhotra D, Sebat J, Goff D, et al. Partial Pharmacological “Rescue” and MRS spectroscopy in Two Carriers of a Rare Marker Chromosome Containing Extra Copies of the GLDC Gene Encoding a Glycine-Degrading Enzyme Implicate NMDA Receptor Hypofunction in Psychosis Biological Psychiatry. 87: S98-S99. DOI: 10.1016/J.Biopsych.2020.02.272 |
0.288 |
|
| 2007 |
Zhao X, Leotta A, Kustanovich V, Lajonchere C, Geschwind DH, Law K, Law P, Qiu S, Lord C, Sebat J, Ye K, Wigler M. A unified genetic theory for sporadic and inherited autism. Proceedings of the National Academy of Sciences of the United States of America. 104: 12831-6. PMID 17652511 DOI: 10.1073/Pnas.0705803104 |
0.286 |
|
| 2019 |
Kleiber M, Chapman T, Maile ML, Hong O, Purcell R, Lippa A, Roberts A, Sebat J. 20Evaluating Genetic Causation And Personalized Pharmacological Treatment Of An Ultra-Rare Disease Associated With Deletion Of Cacng2 European Neuropsychopharmacology. 29. DOI: 10.1016/J.Euroneuro.2018.08.027 |
0.277 |
|
| 2022 |
Mortazavi M, Ren Y, Saini S, Antaki D, St Pierre CL, Williams A, Sohni A, Wilkinson MF, Gymrek M, Sebat J, Palmer AA. SNPs, short tandem repeats, and structural variants are responsible for differential gene expression across C57BL/6 and C57BL/10 substrains. Cell Genomics. 2. PMID 35720252 DOI: 10.1016/j.xgen.2022.100102 |
0.274 |
|
| 2010 |
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, et al. 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. 87: 101-9. PMID 20602916 DOI: 10.1016/J.Ajhg.2010.05.011 |
0.271 |
|
| 2019 |
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. Common DNA sequence variation influences 3-dimensional conformation of the human genome. Genome Biology. 20: 255. PMID 31779666 DOI: 10.1186/S13059-019-1855-4 |
0.271 |
|
| 2022 |
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, ... ... Sebat J, et al. Genomic architecture of autism from comprehensive whole-genome sequence annotation. Cell. 185: 4409-4427.e18. PMID 36368308 DOI: 10.1016/j.cell.2022.10.009 |
0.27 |
|
| 2017 |
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, ... ... Sebat J, et al. FOXP1-related intellectual disability syndrome: a recognisable entity. Journal of Medical Genetics. PMID 28735298 DOI: 10.1136/Jmedgenet-2017-104579 |
0.269 |
|
| 2022 |
Weiner DJ, Ling E, Erdin S, Tai DJC, Yadav R, Grove J, Fu JM, Nadig A, Carey CE, Baya N, Bybjerg-Grauholm J, Berretta S, Macosko EZ, Sebat J, O'Connor LJ, et al. Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p. Nature Genetics. PMID 36280734 DOI: 10.1038/s41588-022-01203-y |
0.266 |
|
| 2023 |
de Jong TV, Pan Y, Rastas P, Munro D, Tutaj M, Akil H, Benner C, Chitre AS, Chow W, Colonna V, Dalgard CL, Demos WM, Doris PA, Garrison E, Geurts A, ... ... Sebat J, et al. A revamped rat reference genome improves the discovery of genetic diversity in laboratory rats. Biorxiv : the Preprint Server For Biology. PMID 37214860 DOI: 10.1101/2023.04.13.536694 |
0.264 |
|
| 2017 |
Russo FB, Freitas BC, Pignatari GC, Fernandes IR, Sebat J, Muotri AR, Beltrão-Braga PCB. Modeling the Interplay Between Neurons and Astrocytes in Autism Using Human Induced Pluripotent Stem Cells. Biological Psychiatry. PMID 29129319 DOI: 10.1016/J.Biopsych.2017.09.021 |
0.257 |
|
| 2008 |
Kim W, Gordon D, Sebat J, Ye KQ, Finch SJ. Computing power and sample size for case-control association studies with copy number polymorphism: application of mixture-based likelihood ratio test. Plos One. 3: e3475. PMID 18941524 DOI: 10.1371/Journal.Pone.0003475 |
0.256 |
|
| 2020 |
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. Inferring the molecular and phenotypic impact of amino acid variants with MutPred2. Nature Communications. 11: 5918. PMID 33219223 DOI: 10.1038/s41467-020-19669-x |
0.254 |
|
| 2022 |
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, Avdibegović E, ... ... Sebat J, et al. Rare copy number variation in posttraumatic stress disorder. Molecular Psychiatry. PMID 36131047 DOI: 10.1038/s41380-022-01776-4 |
0.246 |
|
| 2023 |
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, ... ... Sebat J, et al. Schizophrenia-associated somatic copy-number variants from 12,834 cases reveal recurrent and disruptions. Cell Genomics. 3: 100356. PMID 37601975 DOI: 10.1016/j.xgen.2023.100356 |
0.241 |
|
| 2015 |
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, et al. Characterization of molecular and cellular phenotypes associated with a heterozygous CNTNAP2 deletion using patient-derived hiPSC neural cells. Npj Schizophrenia. 1. PMID 26985448 |
0.231 |
|
| 2011 |
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. Erratum: Modelling schizophrenia using human induced pluripotent stem cells Nature. 479: 556-556. DOI: 10.1038/Nature10603 |
0.225 |
|
| 2022 |
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, et al. Genes To Mental Health (G2MH): A Framework to Map the Combined Effects of Rare and Common Variants on Dimensions of Cognition and Psychopathology. The American Journal of Psychiatry. 179: 189-203. PMID 35236119 DOI: 10.1176/appi.ajp.2021.21040432 |
0.224 |
|
| 2024 |
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, ... ... Sebat J, et al. A revamped rat reference genome improves the discovery of genetic diversity in laboratory rats. Cell Genomics. 100527. PMID 38537634 DOI: 10.1016/j.xgen.2024.100527 |
0.221 |
|
| 2019 |
Urresti J, Losada PM, Zhang P, Negraes PD, Kyung-Yu N, Trujillo C, Tejwani L, Romero S, Amar M, Antaki D, Sebat J, Yates J, Muotri A, Iakoucheva LM. 84 16P11.2 Patient-Derived Cerebral Organoids Show Migration And Synaptic Defects European Neuropsychopharmacology. 29. DOI: 10.1016/J.Euroneuro.2019.07.225 |
0.22 |
|
| 2022 |
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, ... ... Sebat J, et al. A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex. Nature Genetics. PMID 35654974 DOI: 10.1038/s41588-022-01064-5 |
0.216 |
|
| 2022 |
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, ... ... Sebat J, et al. Exome sequencing analysis of Japanese autism spectrum disorder case-control sample supports an increased burden of synaptic function-related genes. Translational Psychiatry. 12: 265. PMID 35811316 DOI: 10.1038/s41398-022-02033-6 |
0.208 |
|
| 2023 |
Gur R, Bearden C, Jacquemont S, Jizi K, van TA, van den Bree M, Vorstman J, Sebat J, Ruparel K, Gallagher R, Swillen A, McClellan E, White L, Crowley T, Giunta V, et al. Neurocognitive Profiles of 22q11.2 and 16p11.2 Deletions and Duplications. Research Square. PMID 38234766 DOI: 10.21203/rs.3.rs-3393845/v1 |
0.206 |
|
| 2021 |
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, ... ... Sebat J, et al. Developmental and temporal characteristics of clonal sperm mosaicism. Cell. PMID 34388390 DOI: 10.1016/j.cell.2021.07.024 |
0.195 |
|
| 2021 |
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, et al. Cortical organoids model early brain development disrupted by 16p11.2 copy number variants in autism. Molecular Psychiatry. PMID 34433918 DOI: 10.1038/s41380-021-01243-6 |
0.193 |
|
| 2021 |
Lian A, Guevara J, Xia K, Sebat J. Customized de novo mutation detection for any variant calling pipeline: SynthDNM. Bioinformatics (Oxford, England). PMID 33821956 DOI: 10.1093/bioinformatics/btab225 |
0.183 |
|
| 2023 |
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, et al. Control-independent mosaic single nucleotide variant detection with DeepMosaic. Nature Biotechnology. PMID 36593400 DOI: 10.1038/s41587-022-01559-w |
0.177 |
|
| 2022 |
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, ... ... Sebat J, et al. Publisher Correction: A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex. Nature Genetics. PMID 35768728 DOI: 10.1038/s41588-022-01145-5 |
0.173 |
|
| 2021 |
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, et al. Autism-linked Cullin3 germline haploinsufficiency impacts cytoskeletal dynamics and cortical neurogenesis through RhoA signaling. Molecular Psychiatry. PMID 33727673 DOI: 10.1038/s41380-021-01052-x |
0.158 |
|
| 2024 |
Maihofer AX, Ratanatharathorn A, Hemmings SMJ, Costenbader KH, Michopoulos V, Polimanti R, Rothbaum AO, Seedat S, Mikita EA, Smith AK, Salem RM, Shaffer RA, Wu T, Sebat J, Ressler KJ, et al. Effects of genetically predicted posttraumatic stress disorder on autoimmune phenotypes. Translational Psychiatry. 14: 172. PMID 38561342 DOI: 10.1038/s41398-024-02869-0 |
0.156 |
|
| 2021 |
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, et al. Correction: Cortical organoids model early brain development disrupted by 16p11.2 copy number variants in autism. Molecular Psychiatry. PMID 34548630 DOI: 10.1038/s41380-021-01289-6 |
0.135 |
|
| 2021 |
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, ... ... Sebat J, et al. Enhancing Discovery of Genetic Variants for Posttraumatic Stress Disorder Through Integration of Quantitative Phenotypes and Trauma Exposure Information. Biological Psychiatry. PMID 34865855 DOI: 10.1016/j.biopsych.2021.09.020 |
0.118 |
|
| 2023 |
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, ... ... Sebat J, et al. Author Correction: Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. Nature Communications. 14: 569. PMID 36732511 DOI: 10.1038/s41467-023-36264-y |
0.104 |
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