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Paul Rothberg

TitleProfessor
InstitutionSchool of Medicine and Dentistry
DepartmentPathology and Laboratory Medicine
AddressUniversity of Rochester Medical Center
School of Medicine and Dentistry
601 Elmwood Ave, Box 608
Rochester NY 14642
 
 Overview
Dr. Rothberg's research focuses on deciphering the role of human genetic variation in the development of disease. Particular areas of focus include cancer and neurodegeneration. Current areas of investigation include studies on the molecular genetics of neuronal ceroid lipofuscinosis (Batten disease) in collaboration with the Batten Disease Clinical and Research Center, the early prediction of drug resistance in chronic myeloid leukemia, and the role of germline variation in the prognosis of prostate cancer.

 
 Selected Publications
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  1. de Blieck EA, Augustine EF, Marshall FJ, Adams H, Cialone J, Dure L, Kwon JM, Newhouse N, Rose K, Rothberg PG, Vierhile A, Mink JW. Methodology of clinical research in rare diseases: Development of a research program in juvenile neuronal ceroid lipofuscinosis (JNCL) via creation of a patient registry and collaboration with patient advocates. Contemp Clin Trials. 2013 Jul; 35(2):48-54.
    View in: PubMed
  2. O'Dell MR, Huang JL, Whitney-Miller CL, Deshpande V, Rothberg P, Grose V, Rossi RM, Zhu AX, Land H, Bardeesy N, Hezel AF. Kras(G12D) and p53 mutation cause primary intrahepatic cholangiocarcinoma. Cancer Res. 2012 Mar 15; 72(6):1557-67.
    View in: PubMed
  3. Kwon JM, Adams H, Rothberg PG, Augustine EF, Marshall FJ, Deblieck EA, Vierhile A, Beck CA, Newhouse NJ, Cialone J, Levy E, Ramirez-Montealegre D, Dure LS, Rose KR, Mink JW. Quantifying physical decline in juvenile neuronal ceroid lipofuscinosis (Batten disease). Neurology. 2011 Nov 15; 77(20):1801-7.
    View in: PubMed
  4. Cialone J, Augustine EF, Newhouse N, Adams H, Vierhile A, Marshall FJ, de Blieck EA, Kwon J, Rothberg PG, Mink JW. Parent-reported benefits of flupirtine in juvenile neuronal ceroid lipofuscinosis (Batten disease; CLN3) are not supported by quantitative data. J Inherit Metab Dis. 2011 Oct; 34(5):1075-81.
    View in: PubMed
  5. Spence JM, Rothberg PG, Wang N, Burack WR. Demonstration of array-based analysis for highly multiplexed PCR assays application to detection of IGH@-BCL2 translocations in FFPE follicular lymphoma specimens. J Mol Diagn. 2011 May; 13(3):252-62.
    View in: PubMed
  6. Bennett JM, Pryor J, Laughlin TS, Rothberg PG, Burack WR. Is the association of "cup-like" nuclei with mutation of the NPM1 gene in acute myeloid leukemia clinically useful? Am J Clin Pathol. 2010 Oct; 134(4):648-52.
    View in: PubMed
  7. Burack WR, Laughlin TS, Friedberg JW, Spence JM, Rothberg PG. PCR assays detect B-lymphocyte clonality in formalin-fixed, paraffin-embedded specimens of classical hodgkin lymphoma without microdissection. Am J Clin Pathol. 2010 Jul; 134(1):104-11.
    View in: PubMed
  8. Laughlin TS, Moliterno AR, Stein BL, Rothberg PG. Detection of exon 12 Mutations in the JAK2 gene: enhanced analytical sensitivity using clamped PCR and nucleotide sequencing. J Mol Diagn. 2010 May; 12(3):278-82.
    View in: PubMed
  9. Kohli M, Rothberg PG, Feng C, Messing E, Joseph J, Rao SS, Hendershot A, Sahsrabudhe D. Exploratory study of a KLK2 polymorphism as a prognostic marker in prostate cancer. Cancer Biomark. 2010; 7(2):101-8.
    View in: PubMed
  10. Laughlin TS, Nuccie B, Rothberg PG. Genotyping of hepatitis C virus by sequence analysis of the amplicon from the Roche Cobas AmpliPrep/Cobas TaqMan viral load assay. J Clin Microbiol. 2010 Feb; 48(2):671-2.
    View in: PubMed
  11. Friedberg JW, Kelly JL, Neuberg D, Peterson DR, Kutok JL, Salloum R, Brenn T, Fisher DC, Ronan E, Dalton V, Rich L, Marquis D, Sims P, Rothberg PG, Liesveld J, Fisher RI, Coffman R, Mosmann T, Freedman AS. Phase II study of a TLR-9 agonist (1018 ISS) with rituximab in patients with relapsed or refractory follicular lymphoma. Br J Haematol. 2009 Aug; 146(3):282-91.
    View in: PubMed
  12. Jones D, Kamel-Reid S, Bahler D, Dong H, Elenitoba-Johnson K, Press R, Quigley N, Rothberg P, Sabath D, Viswanatha D, Weck K, Zehnder J. Laboratory practice guidelines for detecting and reporting BCR-ABL drug resistance mutations in chronic myelogenous leukemia and acute lymphoblastic leukemia: a report of the Association for Molecular Pathology. J Mol Diagn. 2009 Jan; 11(1):4-11.
    View in: PubMed
  13. Liesveld JL, Rothberg PG. Mixed chimerism in SCT: conflict or peaceful coexistence? Bone Marrow Transplant. 2008 Sep; 42(5):297-310.
    View in: PubMed
  14. Simon RA, Laughlin TS, Nuccie B, Wang N, Rothberg PG, Wang X. A 46 XY phenotypic female adolescent with bilateral gonadal tumors consisting of five different components. Int J Gynecol Pathol. 2008 Jul; 27(3):407-11.
    View in: PubMed
  15. Laughlin TS, Becker MW, Liesveld JL, Mulford DA, Abboud CN, Brown P, Rothberg PG. Rapid method for detection of mutations in the nucleophosmin gene in acute myeloid leukemia. J Mol Diagn. 2008 Jul; 10(4):338-45.
    View in: PubMed
  16. Getty AL, Rothberg PG, Pearce DA. Diagnosis of neuronal ceroid lipofuscinosis: mutation detection strategies. Expert Opin Med Diagn. 2007 Nov; 1(3):351-62.
    View in: PubMed
  17. Vargas RL, Felgar RE, Rothberg PG. Detection of clonality in lymphoproliferations using PCR of the antigen receptor genes: does size matter? Leuk Res. 2008 Feb; 32(2):335-8.
    View in: PubMed
  18. Walker AR, Rothberg PG, Liesveld JL. A case of JAK2 positive essential thrombocythemia 16.5 years after autologous marrow transplantation for AML. Bone Marrow Transplant. 2007 Jun; 39(11):725-6.
    View in: PubMed
  19. Ramirez-Montealegre D, Rothberg PG, Pearce DA. Another disorder finds its gene. Brain. 2006 Jun; 129(Pt 6):1353-6.
    View in: PubMed
  20. Leman AR, Polochock S, Mole SE, Pearce DA, Rothberg PG. Homogeneous PCR nucleobase quenching assays to detect four mutations that cause neuronal ceroid lipofuscinosis: T75P and R151X in CLN1, and IVS5-1G>C and R208X in CLN2. J Neurosci Methods. 2006 Oct 15; 157(1):124-31.
    View in: PubMed
  21. Adams H, de Blieck EA, Mink JW, Marshall FJ, Kwon J, Dure L, Rothberg PG, Ramirez-Montealegre D, Pearce DA. Standardized assessment of behavior and adaptive living skills in juvenile neuronal ceroid lipofuscinosis. Dev Med Child Neurol. 2006 Apr; 48(4):259-64.
    View in: PubMed
  22. Vargas RL, Fallone E, Felgar RE, Friedberg JW, Arbini AA, Andersen AA, Rothberg PG. Is there an association between ocular adnexal lymphoma and infection with Chlamydia psittaci? The University of Rochester experience. Leuk Res. 2006 May; 30(5):547-51.
    View in: PubMed
  23. Kwon JM, Rothberg PG, Leman AR, Weimer JM, Mink JW, Pearce DA. Novel CLN3 mutation predicted to cause complete loss of protein function does not modify the classical JNCL phenotype. Neurosci Lett. 2005 Oct 21; 387(2):111-4.
    View in: PubMed
  24. Nye MB, Leman AR, Meyer ME, Menegus MA, Rothberg PG. Sequence diversity in the glycoprotein B gene complicates real-time PCR assays for detection and quantification of cytomegalovirus. J Clin Microbiol. 2005 Oct; 43(10):4968-71.
    View in: PubMed
  25. Marshall FJ, de Blieck EA, Mink JW, Dure L, Adams H, Messing S, Rothberg PG, Levy E, McDonough T, DeYoung J, Wang M, Ramirez-Montealegre D, Kwon JM, Pearce DA. A clinical rating scale for Batten disease: reliable and relevant for clinical trials. Neurology. 2005 Jul 26; 65(2):275-9.
    View in: PubMed
  26. Vargas RL, Felgar RE, Rothberg PG. Re: Prognostic significance of a short sequence insertion in the MCL-1 promoter in chronic lymphocytic leukemia. J Natl Cancer Inst. 2005 Jul 20; 97(14):1089-90; author reply 1093-5.
    View in: PubMed
  27. Leman AR, Pearce DA, Rothberg PG. Gene symbol: CLN3. Disease: Juvenile neuronal ceroid lipofuscinosis (Batten disease). Hum Genet. 2005 May; 116(6):544.
    View in: PubMed
  28. Ramirez-Montealegre D, Chattopadhyay S, Curran TM, Wasserfall C, Pritchard L, Schatz D, Petitto J, Hopkins D, She JX, Rothberg PG, Atkinson M, Pearce DA. Autoimmunity to glutamic acid decarboxylase in the neurodegenerative disorder Batten disease. Neurology. 2005 Feb 22; 64(4):743-5.
    View in: PubMed
  29. Leman AR, Pearce DA, Rothberg PG. Gene symbol: CLN3. Disease: juvenile neuronal ceroid lipofuscinosis (Batten disease). Hum Genet. 2005 Feb; 116(3):236.
    View in: PubMed
  30. McClaskey JH, Leman AR, Rothberg PG. Homogeneous amplification nucleobase quenching assay to detect the E474Q LCHAD deficiency mutation. Genet Test. 2005; 9(1):1-5.
    View in: PubMed
  31. Jeong W, Rothberg PG, Delaney V, Facciuto ME, Yalamanchili K, Nelson JC. Liver transplantation for type 1 primary hyperoxaluria as a cure for combined thrombophilia. Thromb Haemost. 2004 Nov; 92(5):1157-8.
    View in: PubMed
  32. Rothberg PG, Ramirez-Montealegre D, Frazier SD, Pearce DA. Homogeneous polymerase chain reaction nucleobase quenching assay to detect the 1-kbp deletion in CLN3 that causes Batten disease. J Mol Diagn. 2004 Aug; 6(3):260-3.
    View in: PubMed
  33. Rothberg PG. Imatinib: resisting the resistance. Leuk Res. 2003 Nov; 27(11):977-8.
    View in: PubMed
  34. Chatha RK, Johnson AM, Rothberg PG, Townsend RR, Neumann HP, Gabow PA. Von Hippel-Lindau disease masquerading as autosomal dominant polycystic kidney disease. Am J Kidney Dis. 2001 Apr; 37(4):852-8.
    View in: PubMed
  35. Rothberg PG, Bradley JF, Baker DW, Huelsman KM. Is the P25L a "real" VHL mutation? Mol Diagn. 2001 Mar; 6(1):49-54.
    View in: PubMed
  36. Baker DW, Cherches IM, Rothberg PG. Gene symbol: VHL. Disease: Von-Hippel-Lindau syndrome. Hum Genet. 2000 Jun; 106(6):671.
    View in: PubMed
  37. Bradley JF, Lin EC, Rothberg PG. Gene symbol: VHL. Disease: pancreatic cancer. Hum Genet. 2000 Jun; 106(6):671.
    View in: PubMed
  38. Rothberg PG. Metabolic pathway for leucovorin. Mol Diagn. 2000 Mar; 5(1):5-6.
    View in: PubMed
  39. Ishmael HA, Pasztor LM, Rothberg PG, Butler MG, Pfotenhauer J, Hannig V, Summar M. Diagnostic dilemma caused by overlapping features of Prader-Willi syndrome and trisomy 18 during infancy. J Pediatr. 2000 Jan; 136(1):135-6.
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  40. Bradley JF, Collins DL, Schimke RN, Parrott HN, Rothberg PG. Two distinct phenotypes caused by two different missense mutations in the same codon of the VHL gene. Am J Med Genet. 1999 Nov 19; 87(2):163-7.
    View in: PubMed
  41. Srivastava T, Zwick DL, Rothberg PG, Warady BA. Posttransplant lymphoproliferative disorder in pediatric renal transplantation. Pediatr Nephrol. 1999 Nov; 13(9):748-54.
    View in: PubMed
  42. Wang C, Youssef J, Saran B, Rothberg PG, Cunningham ML, Molteni A, Badr M. Diminished energy metabolism and enhanced apoptosis in livers of B6C3F1 mice treated with the antihepatocarcinogen rotenone. Mol Cell Biochem. 1999 Nov; 201(1-2):25-32.
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  43. Daniels PJ, McArthur CP, Heruth DP, Rothberg PG, Pasztor L, Wang Y. Cytokine-mediated stimulation of laminin expression and cell-growth arrest in a human submandibular gland duct-cell line (HSG). Arch Oral Biol. 1999 Jul; 44(7):603-15.
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  44. Bradley JF, Rothberg PG. Processed pseudogene from the von Hippel-Lindau disease gene is located on human chromosome 1. Diagn Mol Pathol. 1999 Jun; 8(2):101-6.
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  45. Schimke RN, Collins DL, Rothberg PG. Functioning carotid paraganglioma in the von Hippel-Lindau syndrome. Am J Med Genet. 1998 Dec 28; 80(5):533-4.
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  46. Rothberg PG, Baker DW, Bradley JF. Simultaneous detection of five mutations in the steroid 21-hydroxylase gene using nested allele-specific amplification. Genet Test. 1998; 2(4):343-6.
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  47. Rothberg PG, Ponnuru S, Baker D, Bradley JF, Freeman AI, Cibis GW, Harris DJ, Heruth DP. A deletion polymorphism due to Alu-Alu recombination in intron 2 of the retinoblastoma gene: association with human gliomas. Mol Carcinog. 1997 Jun; 19(2):69-73.
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  48. Rothberg PG, Gamis AS, Baker D. Use of DNA polymorphisms to monitor engraftment after allogeneic bone marrow transplantation. Clin Lab Med. 1997 Mar; 17(1):109-18.
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  49. Heruth DP, Wetmore LA, Leyva A, Rothberg PG. Influence of protein tyrosine phosphorylation on the expression of the c-myc oncogene in cancer of the large bowel. J Cell Biochem. 1995 May; 58(1):83-94.
    View in: PubMed
  50. Rothberg PG, Otto YM. A polymorphic variant of human c-Myc: Asn11-->Ser. Mamm Genome. 1995 Mar; 6(3):209-11.
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  51. Gill Super HJ, Rothberg PG, Kobayashi H, Freeman AI, Diaz MO, Rowley JD. Clonal, nonconstitutional rearrangements of the MLL gene in infant twins with acute lymphoblastic leukemia: in utero chromosome rearrangement of 11q23. Blood. 1994 Feb 1; 83(3):641-4.
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  52. Cibis GW, Fitzgerald KM, Harris DJ, Rothberg PG, Rupani M. The effects of dystrophin gene mutations on the ERG in mice and humans. Invest Ophthalmol Vis Sci. 1993 Dec; 34(13):3646-52.
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  53. Heruth DP, Zirnstein GW, Bradley JF, Rothberg PG. Sodium butyrate causes an increase in the block to transcriptional elongation in the c-myc gene in SW837 rectal carcinoma cells. J Biol Chem. 1993 Sep 25; 268(27):20466-72.
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  54. Bradley JF, Rothberg PG, Ladanyi M, Chaganti RS. Hypermutation of the MYC gene in diffuse large cell lymphomas with translocations involving band 8q24. Genes Chromosomes Cancer. 1993 Jul; 7(3):128-30.
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  55. Otto YM, Rothberg PG. Extended electrophoresis resolves the dystrophin gene 5.2-kbp cDMD4-5a/HindIII fragment into two bands. Am J Hum Genet. 1992 Dec; 51(6):1452-3.
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  56. Cibis GW, Freeman AI, Pang V, Roloson GJ, Case WF, Ost M, Huntrakoon M, Rothberg PG. Bilateral choroidal neonatal neuroblastoma. Am J Ophthalmol. 1990 Apr 15; 109(4):445-9.
    View in: PubMed
  57. Han KA, Rothberg P, Kulesz-Martin M. Altered levels of endogenous retrovirus-like sequence (VL30) RNA during mouse epidermal cell carcinogenesis. Mol Carcinog. 1990; 3(2):75-82.
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  58. Morse B, South VJ, Rothberg PG, Astrin SM. Somatic mutation and transcriptional deregulation of myc in endemic Burkitt's lymphoma disease: heptamer-nonamer recognition mistakes? Mol Cell Biol. 1989 Jan; 9(1):74-82.
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  59. Herold KM, Rothberg PG. Evidence for a labile intermediate in the butyrate induced reduction of the level of c-myc RNA in SW837 rectal carcinoma cells. Oncogene. 1988 Oct; 3(4):423-8.
    View in: PubMed
  60. Morse B, Rotherg PG, South VJ, Spandorfer JM, Astrin SM. Insertional mutagenesis of the myc locus by a LINE-1 sequence in a human breast carcinoma. Nature. 1988 May 5; 333(6168):87-90.
    View in: PubMed
  61. Rothberg PG. The role of the oncogene c-myc in sporadic large bowel cancer and familial polyposis coli. Semin Surg Oncol. 1987; 3(3):152-8.
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  62. Gupta P, Kashmiri SV, Erisman MD, Rothberg PG, Astrin SM, Ferrer JF. Enhanced expression of the c-myc gene in bovine leukemia virus-induced bovine tumors. Cancer Res. 1986 Dec; 46(12 Pt 1):6295-8.
    View in: PubMed
  63. Rothberg PG, Spandorfer JM, Erisman MD, Staroscik RN, Sears HF, Petersen RO, Astrin SM. Evidence that c-myc expression defines two genetically distinct forms of colorectal adenocarcinoma. Br J Cancer. 1985 Oct; 52(4):629-32.
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  64. Erisman MD, Rothberg PG, Diehl RE, Morse CC, Spandorfer JM, Astrin SM. Deregulation of c-myc gene expression in human colon carcinoma is not accompanied by amplification or rearrangement of the gene. Mol Cell Biol. 1985 Aug; 5(8):1969-76.
    View in: PubMed
  65. Makowski DR, Rothberg PG, Astrin SM. Cellular transformation by avian viruses. Pharmacol Ther. 1985; 27(1):63-97.
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  66. Rothberg PG, Erisman MD, Diehl RE, Rovigatti UG, Astrin SM. Structure and expression of the oncogene c-myc in fresh tumor material from patients with hematopoietic malignancies. Mol Cell Biol. 1984 Jun; 4(6):1096-103.
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  67. Makowski DR, Rothberg PG, Astrin SM. The role of promoter insertion in the induction of neoplasia. Surv Synth Pathol Res. 1984; 3(4):342-9.
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  68. Reitsma PH, Rothberg PG, Astrin SM, Trial J, Bar-Shavit Z, Hall A, Teitelbaum SL, Kahn AJ. Regulation of myc gene expression in HL-60 leukaemia cells by a vitamin D metabolite. Nature. 1983 Dec 1-7; 306(5942):492-4.
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  69. Astrin SM, Rothberg PG. Oncogenes and cancer. Cancer Invest. 1983; 1(4):355-64.
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  70. Rothberg PG, Wimmer E. Mononucleotide and dinucleotide frequencies, and codon usage in poliovirion RNA. Nucleic Acids Res. 1981 Dec 11; 9(23):6221-9.
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  71. van der Werf S, Bregegere F, Kopecka H, Kitamura N, Rothberg PG, Kourilsky P, Wimmer E, Girard M. Molecular cloning of the genome of poliovirus type 1. Proc Natl Acad Sci U S A. 1981 Oct; 78(10):5983-7.
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  72. Dorner AJ, Rothberg PG, Wimmer E. The fate of VPg during in vitro translation of poliovirus RNA. FEBS Lett. 1981 Sep 28; 132(2):219-23.
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  73. Nomoto A, Kitamura N, Lee JJ, Rothberg PG, Imura N, Wimmer E. Identification of point mutations in the genome of the poliovirus Sabin vaccine LSc 2ab, and catalogue of RNase T1- and RNase A-resistant oligonucleotides of poliovirus type 1 (Mahoney) RNA. Virology. 1981 Jul 15; 112(1):217-27.
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  74. Kitamura N, Semler BL, Rothberg PG, Larsen GR, Adler CJ, Dorner AJ, Emini EA, Hanecak R, Lee JJ, van der Werf S, Anderson CW, Wimmer E. Primary structure, gene organization and polypeptide expression of poliovirus RNA. Nature. 1981 Jun 18; 291(5816):547-53.
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  75. Semler BL, Anderson CW, Kitamura N, Rothberg PG, Wishart WL, Wimmer E. Poliovirus replication proteins: RNA sequence encoding P3-1b and the sites of proteolytic processing. Proc Natl Acad Sci U S A. 1981 Jun; 78(6):3464-8.
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  76. Kopecka H, van der Werf S, Bregegere F, Kitamura N, Dreano M, Rothberg PG, Wimmer E, Kourilsky P, Girard M. Restriction map of poliovirus type 2 cDNA. Dev Biol Stand. 1981; 50:301-9.
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  77. Kitamura N, Adler CJ, Rothberg PG, Martinko J, Nathenson SG, Wimmer E. The genome-linked protein of picornaviruses. VII. Genetic mapping of poliovirus VPg by protein and RNA sequence studies. Cell. 1980 Aug; 21(1):295-302.
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  78. Rothberg PG, Harris TJ, Nomoto A, Wimmer E. O4-(5'-uridylyl)tyrosine is the bond between the genome-linked protein and the RNA of poliovirus. Proc Natl Acad Sci U S A. 1978 Oct; 75(10):4868-72.
    View in: PubMed

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