| Year |
Citation |
Score |
| 2020 |
Thorpe J, Osei-Owusu IA, Avigdor BE, Tupler R, Pevsner J. Mosaicism in Human Health and Disease. Annual Review of Genetics. PMID 32916079 DOI: 10.1146/Annurev-Genet-041720-093403 |
0.351 |
|
| 2019 |
Sharim H, Grunwald A, Gabrieli T, Michaeli Y, Margalit S, Torchinsky D, Arielly R, Nifker G, Juhasz M, Gularek F, Almalvez M, Dufault B, Chandra SS, Liu A, Bhattacharya S, ... ... Pevsner J, et al. Long-read single-molecule maps of the functional methylome. Genome Research. PMID 30846530 DOI: 10.1101/Gr.240739.118 |
0.342 |
|
| 2017 |
McConnell MJ, Moran JV, Abyzov A, Akbarian S, Bae T, Cortes-Ciriano I, Erwin JA, Fasching L, Flasch DA, Freed D, Ganz J, Jaffe AE, Kwan KY, Kwon M, Lodato MA, ... ... Pevsner J, et al. Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network. Science (New York, N.Y.). 356. PMID 28450582 DOI: 10.1126/Science.Aal1641 |
0.354 |
|
| 2016 |
Horiuchi Y, Kondo MA, Okada K, Takayanagi Y, Tanaka T, Ho T, Varvaris M, Tajinda K, Hiyama H, Ni K, Colantuoni C, Schretlen D, Cascella NG, Pevsner J, Ishizuka K, et al. Molecular signatures associated with cognitive deficits in schizophrenia: a study of biopsied olfactory neural epithelium. Translational Psychiatry. 6: e915. PMID 27727244 DOI: 10.1038/Tp.2016.154 |
0.607 |
|
| 2016 |
Shirley MD, Frelin L, López JS, Jedlicka A, Dziedzic A, Frank-Crawford MA, Silverman W, Hagopian L, Pevsner J. Copy Number Variants Associated with 14 Cases of Self-Injurious Behavior. Plos One. 11: e0149646. PMID 26933844 DOI: 10.1371/Journal.Pone.0149646 |
0.676 |
|
| 2015 |
Debeljak M, Freed DN, Welch JA, Haley L, Beierl K, Iglehart BS, Pallavajjala A, Gocke CD, Leffell MS, Lin M, Wood LD, Pevsner J, Wheelan SJ, Eshleman JR. Abstract 4270: NGS based microhaplotype counting for ultrasensitive human DNA detection Cancer Research. 75: 4270-4270. DOI: 10.1158/1538-7445.Am2015-4270 |
0.333 |
|
| 2014 |
Freed D, Stevens EL, Pevsner J. Somatic mosaicism in the human genome. Genes. 5: 1064-94. PMID 25513881 DOI: 10.3390/Genes5041064 |
0.66 |
|
| 2013 |
Horiuchi Y, Kano S, Ishizuka K, Cascella NG, Ishii S, Talbot CC, Jaffe AE, Okano H, Pevsner J, Colantuoni C, Sawa A. Olfactory cells via nasal biopsy reflect the developing brain in gene expression profiles: utility and limitation of the surrogate tissues in research for brain disorders. Neuroscience Research. 77: 247-50. PMID 24120685 DOI: 10.1016/J.Neures.2013.09.010 |
0.656 |
|
| 2013 |
Comi AM, Marchuk DA, Pevsner J. A needle in a haystack: Sturge-Weber syndrome gene discovery. Pediatric Neurology. 49: 391-2. PMID 24075845 DOI: 10.1016/J.Pediatrneurol.2013.07.009 |
0.332 |
|
| 2013 |
Baugher JD, Baugher BD, Shirley MD, Pevsner J. Sensitive and specific detection of mosaic chromosomal abnormalities using the Parent-of-Origin-based Detection (POD) method. Bmc Genomics. 14: 367. PMID 23724825 DOI: 10.1186/1471-2164-14-367 |
0.768 |
|
| 2013 |
Shirley MD, Tang H, Gallione CJ, Baugher JD, Frelin LP, Cohen B, North PE, Marchuk DA, Comi AM, Pevsner J. Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. The New England Journal of Medicine. 368: 1971-9. PMID 23656586 DOI: 10.1056/Nejmoa1213507 |
0.761 |
|
| 2013 |
Kondo MA, Tajinda K, Colantuoni C, Hiyama H, Seshadri S, Huang B, Pou S, Furukori K, Hookway C, Jaaro-Peled H, Kano SI, Matsuoka N, Harada K, Ni K, Pevsner J, et al. Unique pharmacological actions of atypical neuroleptic quetiapine: possible role in cell cycle/fate control. Translational Psychiatry. 3: e243. PMID 23549417 DOI: 10.1038/Tp.2013.19 |
0.638 |
|
| 2012 |
Stevens EL, Baugher JD, Shirley MD, Frelin LP, Pevsner J. Unexpected relationships and inbreeding in HapMap phase III populations. Plos One. 7: e49575. PMID 23185369 DOI: 10.1371/Journal.Pone.0049575 |
0.746 |
|
| 2012 |
Shirley MD, Baugher JD, Stevens EL, Tang Z, Gerry N, Beiswanger CM, Berlin DS, Pevsner J. Chromosomal variation in lymphoblastoid cell lines. Human Mutation. 33: 1075-86. PMID 22374857 DOI: 10.1002/Humu.22062 |
0.753 |
|
| 2012 |
Stevens EL, Heckenberg G, Baugher JD, Roberson ED, Downey TJ, Pevsner J. Consanguinity in Centre d'Étude du Polymorphisme Humain (CEPH) pedigrees. European Journal of Human Genetics : Ejhg. 20: 657-67. PMID 22274586 DOI: 10.1038/Ejhg.2011.266 |
0.771 |
|
| 2011 |
Stevens EL, Heckenberg G, Roberson ED, Baugher JD, Downey TJ, Pevsner J. Inference of relationships in population data using identity-by-descent and identity-by-state. Plos Genetics. 7: e1002287. PMID 21966277 DOI: 10.1371/Journal.Pgen.1002287 |
0.768 |
|
| 2011 |
Halper-Stromberg E, Frelin L, Ruczinski I, Scharpf R, Jie C, Carvalho B, Hao H, Hetrick K, Jedlicka A, Dziedzic A, Doheny K, Scott AF, Baylin S, Pevsner J, Spencer F, et al. Performance assessment of copy number microarray platforms using a spike-in experiment. Bioinformatics (Oxford, England). 27: 1052-60. PMID 21478196 DOI: 10.1093/Bioinformatics/Btr106 |
0.363 |
|
| 2011 |
Roberson ED, Wohler ES, Hoover-Fong JE, Lisi E, Stevens EL, Thomas GH, Leonard J, Hamosh A, Pevsner J. Genomic analysis of partial 21q monosomies with variable phenotypes. European Journal of Human Genetics : Ejhg. 19: 235-8. PMID 20823914 DOI: 10.1038/Ejhg.2010.150 |
0.768 |
|
| 2010 |
Sobreira NL, Cirulli ET, Avramopoulos D, Wohler E, Oswald GL, Stevens EL, Ge D, Shianna KV, Smith JP, Maia JM, Gumbs CE, Pevsner J, Thomas G, Valle D, Hoover-Fong JE, et al. Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene. Plos Genetics. 6: e1000991. PMID 20577567 DOI: 10.1371/Journal.Pgen.1000991 |
0.719 |
|
| 2009 |
Ting JC, Roberson ED, Currier DG, Pevsner J. Locations and patterns of meiotic recombination in two-generation pedigrees. Bmc Medical Genetics. 10: 93. PMID 19761602 DOI: 10.1186/1471-2350-10-93 |
0.635 |
|
| 2009 |
Roberson ED, Pevsner J. Visualization of shared genomic regions and meiotic recombination in high-density SNP data. Plos One. 4: e6711. PMID 19696932 DOI: 10.1371/Journal.Pone.0006711 |
0.668 |
|
| 2009 |
Pevsner J. Analysis of genomic DNA with the UCSC genome browser. Methods in Molecular Biology (Clifton, N.J.). 537: 277-301. PMID 19378150 DOI: 10.1007/978-1-59745-251-9_14 |
0.301 |
|
| 2009 |
Miller ND, Nance MA, Wohler ES, Hoover-Fong JE, Lisi E, Thomas GH, Pevsner J. Molecular (SNP) analyses of overlapping hemizygous deletions of 10q25.3 to 10qter in four patients: evidence for HMX2 and HMX3 as candidate genes in hearing and vestibular function. American Journal of Medical Genetics. Part A. 149: 669-80. PMID 19253379 DOI: 10.1002/Ajmg.A.32705 |
0.326 |
|
| 2008 |
Scharpf RB, Parmigiani G, Pevsner J, Ruczinski I. Hidden Markov models for the assessment of chromosomal alterations using high-throughput SNP arrays. The Annals of Applied Statistics. 2: 687-713. PMID 19609370 DOI: 10.1214/07-Aoas155 |
0.337 |
|
| 2007 |
Watkins PA, Maiguel D, Jia Z, Pevsner J. Evidence for 26 distinct acyl-coenzyme A synthetase genes in the human genome. Journal of Lipid Research. 48: 2736-50. PMID 17762044 DOI: 10.1194/Jlr.M700378-Jlr200 |
0.345 |
|
| 2007 |
Ting JC, Roberson ED, Miller ND, Lysholm-Bernacchi A, Stephan DA, Capone GT, Ruczinski I, Thomas GH, Pevsner J. Visualization of uniparental inheritance, Mendelian inconsistencies, deletions, and parent of origin effects in single nucleotide polymorphism trio data with SNPtrio. Human Mutation. 28: 1225-35. PMID 17661425 DOI: 10.1002/Humu.20583 |
0.665 |
|
| 2007 |
Deng V, Matagne V, Banine F, Frerking M, Ohliger P, Budden S, Pevsner J, Dissen GA, Sherman LS, Ojeda SR. FXYD1 is an MeCP2 target gene overexpressed in the brains of Rett syndrome patients and Mecp2-null mice. Human Molecular Genetics. 16: 640-50. PMID 17309881 DOI: 10.1093/Hmg/Ddm007 |
0.328 |
|
| 2007 |
Scharpf RB, Ting JC, Pevsner J, Ruczinski I. SNPchip: R classes and methods for SNP array data. Bioinformatics (Oxford, England). 23: 627-8. PMID 17204461 DOI: 10.1093/Bioinformatics/Btl638 |
0.313 |
|
| 2006 |
Ting JC, Ye Y, Thomas GH, Ruczinski I, Pevsner J. Analysis and visualization of chromosomal abnormalities in SNP data with SNPscan. Bmc Bioinformatics. 7: 25. PMID 16420694 DOI: 10.1186/1471-2105-7-25 |
0.359 |
|
| 2005 |
Mao R, Wang X, Spitznagel EL, Frelin LP, Ting JC, Ding H, Kim JW, Ruczinski I, Downey TJ, Pevsner J. Primary and secondary transcriptional effects in the developing human Down syndrome brain and heart. Genome Biology. 6: R107. PMID 16420667 DOI: 10.1186/Gb-2005-6-13-R107 |
0.526 |
|
| 2005 |
Mao R, Pevsner J. The use of genomic microarrays to study chromosomal abnormalities in mental retardation. Mental Retardation and Developmental Disabilities Research Reviews. 11: 279-85. PMID 16240409 DOI: 10.1002/Mrdd.20082 |
0.523 |
|
| 2005 |
Yan Q, Hunt PR, Frelin L, Vida TA, Pevsner J, Bean AJ. mVps24p functions in EGF receptor sorting/trafficking from the early endosome. Experimental Cell Research. 304: 265-73. PMID 15707591 DOI: 10.1016/J.Yexcr.2004.11.003 |
0.603 |
|
| 2004 |
Masayesva BG, Ha P, Garrett-Mayer E, Pilkington T, Mao R, Pevsner J, Speed T, Benoit N, Moon CS, Sidransky D, Westra WH, Califano J. Gene expression alterations over large chromosomal regions in cancers include multiple genes unrelated to malignant progression. Proceedings of the National Academy of Sciences of the United States of America. 101: 8715-20. PMID 15155901 DOI: 10.1073/Pnas.0400027101 |
0.554 |
|
| 2004 |
Mirnics K, Pevsner J. Progress in the use of microarray technology to study the neurobiology of disease. Nature Neuroscience. 7: 434-9. PMID 15114354 DOI: 10.1038/Nn1230 |
0.433 |
|
| 2004 |
Petrova PS, Raibekas A, Pevsner J, Vigo N, Anafi M, Moore MK, Peaire A, Shridhar V, Smith DI, Kelly J, Durocher Y, Commissiong JW. Discovering novel phenotype-selective neurotrophic factors to treat neurodegenerative diseases. Progress in Brain Research. 146: 168-83. PMID 14699964 DOI: 10.1016/S0079-6123(03)46012-3 |
0.319 |
|
| 2003 |
Bouton CM, Pevsner J. DRAGON and DRAGON view: information annotation and visualization tools for large-scale expression data. Current Protocols in Bioinformatics / Editoral Board, Andreas D. Baxevanis ... [Et Al.]. Unit 7.4. PMID 18428707 DOI: 10.1002/0471250953.Bi0704S02 |
0.78 |
|
| 2003 |
Cohen DR, Matarazzo V, Palmer AM, Tu Y, Jeon OH, Pevsner J, Ronnett GV. Expression of MeCP2 in olfactory receptor neurons is developmentally regulated and occurs before synaptogenesis. Molecular and Cellular Neurosciences. 22: 417-29. PMID 12727440 DOI: 10.1016/S1044-7431(03)00026-5 |
0.34 |
|
| 2003 |
Mao R, Zielke CL, Zielke HR, Pevsner J. Global up-regulation of chromosome 21 gene expression in the developing Down syndrome brain. Genomics. 81: 457-67. PMID 12706104 DOI: 10.1016/S0888-7543(03)00035-1 |
0.555 |
|
| 2003 |
Comi AM, Hunt P, Vawter MP, Pardo CA, Becker KG, Pevsner J. Increased fibronectin expression in sturge-weber syndrome fibroblasts and brain tissue. Pediatric Research. 53: 762-9. PMID 12621118 DOI: 10.1203/01.Pdr.0000058921.54071.19 |
0.705 |
|
| 2002 |
Colantuoni C, Henry G, Zeger S, Pevsner J. SNOMAD (Standardization and NOrmalization of MicroArray Data): web-accessible gene expression data analysis. Bioinformatics (Oxford, England). 18: 1540-1. PMID 12424128 DOI: 10.1093/Bioinformatics/18.11.1540 |
0.662 |
|
| 2002 |
Colantuoni C, Henry G, Zeger S, Pevsner J. Local mean normalization of microarray element signal intensities across an array surface: quality control and correction of spatially systematic artifacts. Biotechniques. 32: 1316-20. PMID 12074162 DOI: 10.2144/02326Mt02 |
0.637 |
|
| 2002 |
Bouton CM, Pevsner J. DRAGON View: information visualization for annotated microarray data. Bioinformatics (Oxford, England). 18: 323-4. PMID 11847082 |
0.746 |
|
| 2002 |
Sung YK, Moon C, Yoo JY, Moon C, Pearse D, Pevsner J, Ronnett GV. Plunc, a member of the secretory gland protein family, is up-regulated in nasal respiratory epithelium after olfactory bulbectomy. The Journal of Biological Chemistry. 277: 12762-9. PMID 11821380 DOI: 10.1074/Jbc.M106208200 |
0.314 |
|
| 2002 |
Colantuoni C, Comi A, Purcell AE, Pevsner J. The use of microarrays to study childhood developmental brain disorders Current Genomics. 3: 21-31. DOI: 10.2174/1389202023350660 |
0.751 |
|
| 2001 |
Purcell AE, Jeon OH, Pevsner J. The abnormal regulation of gene expression in autistic brain tissue. Journal of Autism and Developmental Disorders. 31: 545-9. PMID 11814264 DOI: 10.1023/A:1013290826504 |
0.728 |
|
| 2001 |
Johnston MV, Jeon OH, Pevsner J, Blue ME, Naidu S. Neurobiology of Rett syndrome: a genetic disorder of synapse development. Brain & Development. 23: S206-13. PMID 11738874 DOI: 10.1016/S0387-7604(01)00351-5 |
0.347 |
|
| 2001 |
Purcell AE, Jeon OH, Zimmerman AW, Blue ME, Pevsner J. Postmortem brain abnormalities of the glutamate neurotransmitter system in autism. Neurology. 57: 1618-28. PMID 11706102 DOI: 10.1212/Wnl.57.9.1618 |
0.697 |
|
| 2001 |
Colantuoni C, Jeon OH, Hyder K, Chenchik A, Khimani AH, Narayanan V, Hoffman EP, Kaufmann WE, Naidu S, Pevsner J. Gene expression profiling in postmortem Rett Syndrome brain: differential gene expression and patient classification. Neurobiology of Disease. 8: 847-65. PMID 11592853 DOI: 10.1006/Nbdi.2001.0428 |
0.706 |
|
| 2001 |
Bouton CM, Hossain MA, Frelin LP, Laterra J, Pevsner J. Microarray analysis of differential gene expression in lead-exposed astrocytes. Toxicology and Applied Pharmacology. 176: 34-53. PMID 11578147 DOI: 10.1006/Taap.2001.9274 |
0.784 |
|
| 2001 |
Purcell AE, Rocco MM, Lenhart JA, Hyder K, Zimmerman AW, Pevsner J. Assessment of neural cell adhesion molecule (NCAM) in autistic serum and postmortem brain. Journal of Autism and Developmental Disorders. 31: 183-94. PMID 11450817 DOI: 10.1023/A:1010751232295 |
0.686 |
|
| 2001 |
Johnston-Wilson NL, Bouton CM, Pevsner J, Breen JJ, Torrey EF, Yolken RH. Emerging technologies for large-scale screening of human tissues and fluids in the study of severe psychiatric disease. The International Journal of Neuropsychopharmacology / Official Scientific Journal of the Collegium Internationale Neuropsychopharmacologicum (Cinp). 4: 83-92. PMID 11343633 DOI: 10.1017/S1461145701002255 |
0.77 |
|
| 2001 |
Bouton CM, Frelin LP, Forde CE, Arnold Godwin H, Pevsner J. Synaptotagmin I is a molecular target for lead. Journal of Neurochemistry. 76: 1724-35. PMID 11259490 DOI: 10.1046/J.1471-4159.2001.00168.X |
0.726 |
|
| 2000 |
Bouton CM, Pevsner J. Effects of lead on gene expression. Neurotoxicology. 21: 1045-55. PMID 11233751 |
0.767 |
|
| 2000 |
Bouton CM, Pevsner J. DRAGON: Database Referencing of Array Genes Online. Bioinformatics (Oxford, England). 16: 1038-9. PMID 11159315 |
0.762 |
|
| 2000 |
Hossain MA, Bouton CM, Pevsner J, Laterra J. Induction of vascular endothelial growth factor in human astrocytes by lead. Involvement of a protein kinase C/activator protein-1 complex-dependent and hypoxia-inducible factor 1-independent signaling pathway. The Journal of Biological Chemistry. 275: 27874-82. PMID 10882716 DOI: 10.1074/Jbc.M002185200 |
0.744 |
|
| 2000 |
Colantuoni C, Purcell AE, Bouton CM, Pevsner J. High throughput analysis of gene expression in the human brain. Journal of Neuroscience Research. 59: 1-10. PMID 10658179 DOI: 10.1002/(Sici)1097-4547(20000101)59:1<1::Aid-Jnr1>3.0.Co;2-2 |
0.784 |
|
| 2000 |
Pevsner J. 194. Abnormal regulation of expressed genes in human brain diseases revealed using cDNA microarrays Biological Psychiatry. 47: S59. DOI: 10.1016/S0006-3223(00)00458-3 |
0.402 |
|
| 2000 |
Colantuoni C, Jeon O, Bouton C, Purcell A, Hyder K, Chenchik A, Khimani A, Yolken R, Zeger S, Kaufmann W, Naidu S, Pevsner J. 29. Differential gene expression in human postmortem Rett syndrome brain revealed by cDNA microarray Biological Psychiatry. 47: S8-S9. DOI: 10.1016/S0006-3223(00)00287-0 |
0.785 |
|
| 1999 |
Smith KD, Kemp S, Braiterman LT, Lu JF, Wei HM, Geraghty M, Stetten G, Bergin JS, Pevsner J, Watkins PA. X-linked adrenoleukodystrophy: genes, mutations, and phenotypes. Neurochemical Research. 24: 521-35. PMID 10227685 DOI: 10.1023/A:1022535930009 |
0.307 |
|
| 1999 |
Khimani AH, Colantuoni C, Pevsner J, Garlick RK, Killian JB. MICROMAX™ microarray system I: a complete system for high throughput gene expression analysis and drug discovery Nature Genetics. 23: 55-55. DOI: 10.1038/14340 |
0.703 |
|
| 1999 |
Pevsner J. Analysis of gene expression in human brain diseases using high density microarrays Nature Genetics. 23: 15-15. DOI: 10.1038/14228 |
0.387 |
|
| 1996 |
Pevsner J, Hsu SC, Hyde PS, Scheller RH. Mammalian homologues of yeast vacuolar protein sorting (vps) genes implicated in Golgi-to-lysosome trafficking. Gene. 183: 7-14. PMID 8996080 DOI: 10.1016/S0378-1119(96)00367-8 |
0.317 |
|
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