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Biblio

Found 36 results

2013
Shirley MD, Tang H, Gallione CJ, Baugher JD, Frelin LP, Cohen B, North PE, Marchuk DA, Comi AM, Pevsner J.  2013.  Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ.. The New England journal of medicine. 368(21):1971-9. Abstract
2012
Stevens EL, Baugher JD, Shirley MD, Frelin LP, Pevsner J.  2012.  Unexpected relationships and inbreeding in HapMap phase III populations.. PloS one. 7(11):e49575. Abstract
2011
Roberson EDO, Wohler ES, Hoover-Fong JE, Lisi E, Stevens EL, Thomas GH, Leonard J, Hamosh A, Pevsner J.  2011.  Genomic analysis of partial 21q monosomies with variable phenotypes.. European journal of human genetics : EJHG. 19(2):235-8. Abstract
Halper-Stromberg E, Frelin L, Ruczinski I, Scharpf R, Jie C, Carvalho B, Hao H, Hetrick K, Jedlicka A, Dziedzic A et al..  2011.  Performance assessment of copy number microarray platforms using a spike-in experiment.. Bioinformatics (Oxford, England). 27(8):1052-60. Abstract
2010
Sobreira NLM, Cirulli ET, Avramopoulos D, Wohler E, Oswald GL, Stevens EL, Ge D, Shianna KV, Smith JP, Maia JM et al..  2010.  Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene.. PLoS genetics. 6(6):e1000991. Abstract
2009
Miller ND, Nance MA, Wohler ES, Hoover-Fong JE, Lisi E, Thomas GH, Pevsner J.  2009.  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. 149A(4):669-80. Abstract
Pevsner J.  2009.  Analysis of genomic DNA with the UCSC genome browser.. Methods in molecular biology (Clifton, N.J.). 537:277-301. Abstract
Ting JC, Roberson EDO, Currier DG, Pevsner J.  2009.  Locations and patterns of meiotic recombination in two-generation pedigrees.. BMC medical genetics. 10:93. Abstract
Roberson EDO, Pevsner J.  2009.  Visualization of shared genomic regions and meiotic recombination in high-density SNP data.. PloS one. 4(8):e6711. Abstract
2008
Wang W, Carvalho B, Miller ND, Pevsner J, Chakravarti A, Irizarry RA.  2008.  Estimating genome-wide copy number using allele-specific mixture models.. Journal of computational biology : a journal of computational molecular cell biology. 15(7):857-66. Abstract
Scharpf RB, Parmigiani G, Pevsner J, Ruczinski I.  2008.  Hidden Markov models for the assessment of chromosomal alterations using high-throughput SNP arrays.. The annals of applied statistics. 2(2):687-713. Abstract
Miller RA, Christoforou N, Pevsner J, McCallion AS, Gearhart JD.  2008.  Efficient array-based identification of novel cardiac genes through differentiation of mouse ESCs.. PloS one. 3(5):e2176. Abstract
2007
Gao P, Zhang H, Dinavahi R, Li F, Xiang Y, Raman V, Bhujwalla ZM, Felsher DW, Cheng L, Pevsner J et al..  2007.  HIF-dependent antitumorigenic effect of antioxidants in vivo.. Cancer cell. 12(3):230-8. Abstract
Scharpf RB, Ting JC, Pevsner J, Ruczinski I.  2007.  SNPchip: R classes and methods for SNP array data.. Bioinformatics (Oxford, England). 23(5):627-8. Abstract
Ladd-Acosta C, Pevsner J, Sabunciyan S, Yolken RH, Webster MJ, Dinkins T, Callinan PA, Fan J-B, Potash JB, Feinberg AP.  2007.  DNA methylation signatures within the human brain.. American journal of human genetics. 81(6):1304-15. Abstract
Watkins PA, Maiguel D, Jia Z, Pevsner J.  2007.  Evidence for 26 distinct acyl-coenzyme A synthetase genes in the human genome.. Journal of lipid research. 48(12):2736-50. Abstract
Ting JC, Roberson EDO, Miller ND, Lysholm-Bernacchi A, Stephan DA, Capone GT, Ruczinski I, Thomas GH, Pevsner J.  2007.  Visualization of uniparental inheritance, Mendelian inconsistencies, deletions, and parent of origin effects in single nucleotide polymorphism trio data with SNPtrio.. Human mutation. 28(12):1225-35. Abstract
2006
Ting JC, Ye Y, Thomas GH, Ruczinski I, Pevsner J.  2006.  Analysis and visualization of chromosomal abnormalities in SNP data with SNPscan.. BMC bioinformatics. 7:25. Abstract
2005
Mao R, Wang X, Spitznagel EL, Frelin LP, Ting JC, Ding H, Kim J-whan, Ruczinski I, Downey TJ, Pevsner J.  2005.  Primary and secondary transcriptional effects in the developing human Down syndrome brain and heart.. Genome biology. 6(13):R107. Abstract
Mao R, Pevsner J.  2005.  The use of genomic microarrays to study chromosomal abnormalities in mental retardation.. Mental retardation and developmental disabilities research reviews. 11(4):279-85. Abstract
2004
Fannjiang Y, Cheng W-C, Lee SJ, Qi B, Pevsner J, McCaffery MJ, Hill BR, Basañez G, Hardwick MJ.  2004.  Mitochondrial fission proteins regulate programmed cell death in yeast.. Genes & development. 18(22):2785-97. Abstract
Polster BM, Pevsner J, Hardwick MJ.  2004.  Viral Bcl-2 homologs and their role in virus replication and associated diseases.. Biochimica et biophysica acta. 1644(2-3):211-27. Abstract
Masayesva BG, Ha P, Garrett-Mayer E, Pilkington T, Mao R, Pevsner J, Speed T, Benoit N, Moon C-S, Sidransky D et al..  2004.  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(23):8715-20. Abstract
2003
Matsushita K, Morrell CN, Cambien B, Yang SX, Yamakuchi M, Bao C, Hara MR, Quick RA, Cao W, O'Rourke B et al..  2003.  Nitric oxide regulates exocytosis by S-nitrosylation of N-ethylmaleimide-sensitive factor.. Cell. 115(2):139-50. Abstract
Naidu S, Bibat G, Kratz L, Kelley RI, Pevsner J, Hoffman E, Cuffari C, Rohde C, Blue ME, Johnston MV.  2003.  Clinical variability in Rett syndrome.. Journal of child neurology. 18(10):662-8. Abstract

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