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Items: 1 to 20 of 82


An 80-Year-Old Man With Asbestos Exposure Presenting With Respiratory Distress.

Aron A, Urban AE, Lanfranco JA, Freire AX, Romero-Legro IH.

Chest. 2017 Aug;152(2):e25-e28. doi: 10.1016/j.chest.2017.03.016. No abstract available.


Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network.

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, Mills RE, Paquola ACM, Rodin RE, Rosenbluh C, Sestan N, Sherman MA, Shin JH, Song S, Straub RE, Thorpe J, Weinberger DR, Urban AE, Zhou B, Gage FH, Lehner T, Senthil G, Walsh CA, Chess A, Courchesne E, Gleeson JG, Kidd JM, Park PJ, Pevsner J, Vaccarino FM; Brain Somatic Mosaicism Network.

Science. 2017 Apr 28;356(6336). pii: eaal1641. doi: 10.1126/science.aal1641. Epub 2017 Apr 27. Review.


Comprehensive performance comparison of high-resolution array platforms for genome-wide Copy Number Variation (CNV) analysis in humans.

Haraksingh RR, Abyzov A, Urban AE.

BMC Genomics. 2017 Apr 24;18(1):321. doi: 10.1186/s12864-017-3658-x.


One thousand somatic SNVs per skin fibroblast cell set baseline of mosaic mutational load with patterns that suggest proliferative origin.

Abyzov A, Tomasini L, Zhou B, Vasmatzis N, Coppola G, Amenduni M, Pattni R, Wilson M, Gerstein M, Weissman S, Urban AE, Vaccarino FM.

Genome Res. 2017 Apr;27(4):512-523. doi: 10.1101/gr.215517.116. Epub 2017 Feb 24.


Pdlim7 Regulates Arf6-Dependent Actin Dynamics and Is Required for Platelet-Mediated Thrombosis in Mice.

Urban AE, Quick EO, Miller KP, Krcmery J, Simon HG.

PLoS One. 2016 Oct 28;11(10):e0164042. doi: 10.1371/journal.pone.0164042. eCollection 2016.


Identification of Human Neuronal Protein Complexes Reveals Biochemical Activities and Convergent Mechanisms of Action in Autism Spectrum Disorders.

Li J, Ma Z, Shi M, Malty RH, Aoki H, Minic Z, Phanse S, Jin K, Wall DP, Zhang Z, Urban AE, Hallmayer J, Babu M, Snyder M.

Cell Syst. 2015 Nov 25;1(5):361-374.


Rapid-onset agranulocytosis in a patient treated with clozapine and lamotrigine.

Urban AE, Wiglusz MS, CubaƂa WJ, Landowski J, Krysta K.

Psychiatr Danub. 2015 Sep;27 Suppl 1:S459-61.


46,XY disorders of sex development and congenital diaphragmatic hernia: a case with dysmorphic facies, truncus arteriosus, bifid thymus, gut malrotation, rhizomelia, and adactyly.

Esplin ED, Chaib H, Haney M, Martin B, Homeyer M, Urban AE, Bernstein JA.

Am J Med Genet A. 2015 Jun;167(6):1360-4. doi: 10.1002/ajmg.a.37037. Epub 2015 Apr 21. Review.


Using iPSCs and genomics to catch CNVs in the act.

Urban AE, Purmann C.

Nat Genet. 2015 Feb;47(2):100-1. doi: 10.1038/ng.3204.


Type I interferon signaling genes in recurrent major depression: increased expression detected by whole-blood RNA sequencing.

Mostafavi S, Battle A, Zhu X, Potash JB, Weissman MM, Shi J, Beckman K, Haudenschild C, McCormick C, Mei R, Gameroff MJ, Gindes H, Adams P, Goes FS, Mondimore FM, MacKinnon DF, Notes L, Schweizer B, Furman D, Montgomery SB, Urban AE, Koller D, Levinson DF.

Mol Psychiatry. 2014 Dec;19(12):1267-74. doi: 10.1038/mp.2013.161. Epub 2013 Dec 3.


Characterizing the genetic basis of transcriptome diversity through RNA-sequencing of 922 individuals.

Battle A, Mostafavi S, Zhu X, Potash JB, Weissman MM, McCormick C, Haudenschild CD, Beckman KB, Shi J, Mei R, Urban AE, Montgomery SB, Levinson DF, Koller D.

Genome Res. 2014 Jan;24(1):14-24. doi: 10.1101/gr.155192.113. Epub 2013 Oct 3.


Normalizing RNA-sequencing data by modeling hidden covariates with prior knowledge.

Mostafavi S, Battle A, Zhu X, Urban AE, Levinson D, Montgomery SB, Koller D.

PLoS One. 2013 Jul 18;8(7):e68141. doi: 10.1371/journal.pone.0068141. Print 2013.


Child development and structural variation in the human genome.

Zhang Y, Haraksingh R, Grubert F, Abyzov A, Gerstein M, Weissman S, Urban AE.

Child Dev. 2013 Jan-Feb;84(1):34-48. doi: 10.1111/cdev.12051. Epub 2013 Jan 13. Review.


Somatic copy number mosaicism in human skin revealed by induced pluripotent stem cells.

Abyzov A, Mariani J, Palejev D, Zhang Y, Haney MS, Tomasini L, Ferrandino AF, Rosenberg Belmaker LA, Szekely A, Wilson M, Kocabas A, Calixto NE, Grigorenko EL, Huttner A, Chawarska K, Weissman S, Urban AE, Gerstein M, Vaccarino FM.

Nature. 2012 Dec 20;492(7429):438-42. doi: 10.1038/nature11629. Epub 2012 Nov 18.


Copy Number Variation detection from 1000 Genomes Project exon capture sequencing data.

Wu J, Grzeda KR, Stewart C, Grubert F, Urban AE, Snyder MP, Marth GT.

BMC Bioinformatics. 2012 Nov 17;13:305. doi: 10.1186/1471-2105-13-305.


Extensive genetic variation in somatic human tissues.

O'Huallachain M, Karczewski KJ, Weissman SM, Urban AE, Snyder MP.

Proc Natl Acad Sci U S A. 2012 Oct 30;109(44):18018-23. doi: 10.1073/pnas.1213736109. Epub 2012 Oct 5.


A role of genomic copy number variation in the complex behavioral phenotype of alcohol dependence: a commentary.

Urban AE.

Alcohol Clin Exp Res. 2012 Sep;36(9):1483-6. doi: 10.1111/j.1530-0277.2012.01915.x. Epub 2012 Aug 21.


The 1000 Genomes Project: data management and community access.

Clarke L, Zheng-Bradley X, Smith R, Kulesha E, Xiao C, Toneva I, Vaughan B, Preuss D, Leinonen R, Shumway M, Sherry S, Flicek P; 1000 Genomes Project Consortium.

Nat Methods. 2012 Apr 27;9(5):459-62. doi: 10.1038/nmeth.1974.


Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy.

Winkelmann J, Lin L, Schormair B, Kornum BR, Faraco J, Plazzi G, Melberg A, Cornelio F, Urban AE, Pizza F, Poli F, Grubert F, Wieland T, Graf E, Hallmayer J, Strom TM, Mignot E.

Hum Mol Genet. 2012 May 15;21(10):2205-10. doi: 10.1093/hmg/dds035. Epub 2012 Feb 9.


Genome-wide mapping of copy number variation in humans: comparative analysis of high resolution array platforms.

Haraksingh RR, Abyzov A, Gerstein M, Urban AE, Snyder M.

PLoS One. 2011;6(11):e27859. doi: 10.1371/journal.pone.0027859. Epub 2011 Nov 30.

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