Paul G Rothberg

Summary

Affiliation: University of Rochester
Country: USA

Publications

  1. pmc Homogeneous polymerase chain reaction nucleobase quenching assay to detect the 1-kbp deletion in CLN3 that causes Batten disease
    Paul G Rothberg
    Department of Pathology and Laboratory Medicine, 601 Elmwood Ave, Box 626, Rochester, NY 14642, USA
    J Mol Diagn 6:260-3. 2004
  2. pmc 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
    Elisabeth A de Blieck
    University of Rochester, Rochester, NY 14642, USA
    Contemp Clin Trials 35:48-54. 2013
  3. pmc Parent-reported benefits of flupirtine in juvenile neuronal ceroid lipofuscinosis (Batten disease; CLN3) are not supported by quantitative data
    Jennifer Cialone
    University of Rochester, Rochester, NY 14642, USA
    J Inherit Metab Dis 34:1075-81. 2011
  4. ncbi request reprint Detection of clonality in lymphoproliferations using PCR of the antigen receptor genes: does size matter?
    Roberto L Vargas
    Department of Pathology and Laboratory Medicine, University of Rochester Medical Center, 601 Elmwood Avenue, Rochester, NY 14642, USA
    Leuk Res 32:335-8. 2008
  5. pmc Detection of exon 12 Mutations in the JAK2 gene: enhanced analytical sensitivity using clamped PCR and nucleotide sequencing
    Todd S Laughlin
    Department of Pathology and Laboratory Medicine, University of Rochester Medical Center, 601 Elmwood Ave, Box 626, Rochester, NY 14642, USA
    J Mol Diagn 12:278-82. 2010
  6. ncbi request reprint 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
    Adam R Leman
    Department of Pathology and Laboratory Medicine, University of Rochester Medical Center, 601 Elmwood Ave, Box 626, Rochester, NY 14642, USA
    J Neurosci Methods 157:124-31. 2006
  7. pmc Phase II study of a TLR-9 agonist (1018 ISS) with rituximab in patients with relapsed or refractory follicular lymphoma
    Jonathan W Friedberg
    James P Wilmot Cancer Center, University of Rochester Medical Center, Rochester, NY, USA
    Br J Haematol 146:282-91. 2009
  8. pmc Demonstration of array-based analysis for highly multiplexed PCR assays application to detection of IGH@-BCL2 translocations in FFPE follicular lymphoma specimens
    Janice M Spence
    Department of Pathology and Laboratory Medicine, University of Rochester Medical Center, 601 Elmwood Avenue, Rochester, NY 14642, USA
    J Mol Diagn 13:252-62. 2011
  9. pmc Rapid method for detection of mutations in the nucleophosmin gene in acute myeloid leukemia
    Todd S Laughlin
    Department of Pathology and Laboratory Medicine, University of Rochester Medical Center, 601 Elmwood Avenue, Rochester, NY 14642, USA
    J Mol Diagn 10:338-45. 2008
  10. ncbi request reprint Standardized assessment of behavior and adaptive living skills in juvenile neuronal ceroid lipofuscinosis
    Heather Adams
    University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA
    Dev Med Child Neurol 48:259-64. 2006

Collaborators

Detail Information

Publications20

  1. pmc Homogeneous polymerase chain reaction nucleobase quenching assay to detect the 1-kbp deletion in CLN3 that causes Batten disease
    Paul G Rothberg
    Department of Pathology and Laboratory Medicine, 601 Elmwood Ave, Box 626, Rochester, NY 14642, USA
    J Mol Diagn 6:260-3. 2004
    ..PCR followed by allele-specific melting curve analysis using nucleobase quenching has utility as a rapid method for detection of the most common mutation that causes Batten disease...
  2. pmc 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
    Elisabeth A de Blieck
    University of Rochester, Rochester, NY 14642, USA
    Contemp Clin Trials 35:48-54. 2013
    ..True for many rare diseases, there are no treatments that impact the course of JNCL. The University of Rochester Batten Center's (URBC) mission is to find treatments to slow, halt, or prevent JNCL...
  3. pmc Parent-reported benefits of flupirtine in juvenile neuronal ceroid lipofuscinosis (Batten disease; CLN3) are not supported by quantitative data
    Jennifer Cialone
    University of Rochester, Rochester, NY 14642, USA
    J Inherit Metab Dis 34:1075-81. 2011
    ..However, our quantitative, prospectively obtained data did not show any change in JNCL disease progression that could be attributed to flupirtine. This study highlights the need for prospective experimental therapeutic research...
  4. ncbi request reprint Detection of clonality in lymphoproliferations using PCR of the antigen receptor genes: does size matter?
    Roberto L Vargas
    Department of Pathology and Laboratory Medicine, University of Rochester Medical Center, 601 Elmwood Avenue, Rochester, NY 14642, USA
    Leuk Res 32:335-8. 2008
    ..This work illustrates that bands outside of the size range expected from PCR of the antigen receptor genes may still be consistent with a monoclonal result...
  5. pmc Detection of exon 12 Mutations in the JAK2 gene: enhanced analytical sensitivity using clamped PCR and nucleotide sequencing
    Todd S Laughlin
    Department of Pathology and Laboratory Medicine, University of Rochester Medical Center, 601 Elmwood Ave, Box 626, Rochester, NY 14642, USA
    J Mol Diagn 12:278-82. 2010
    ..The use of an assay with increased analytical sensitivity enhances the ability to identify patients with mutations in exon 12 of the JAK2 gene...
  6. ncbi request reprint 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
    Adam R Leman
    Department of Pathology and Laboratory Medicine, University of Rochester Medical Center, 601 Elmwood Ave, Box 626, Rochester, NY 14642, USA
    J Neurosci Methods 157:124-31. 2006
    ..This new assay, combined with a test for the common 1 kbp deletion in the CLN3 gene, provides a set of DNA-based assays suitable for detection of the most common mutations causing NCL with onset in the juvenile age range...
  7. pmc Phase II study of a TLR-9 agonist (1018 ISS) with rituximab in patients with relapsed or refractory follicular lymphoma
    Jonathan W Friedberg
    James P Wilmot Cancer Center, University of Rochester Medical Center, Rochester, NY, USA
    Br J Haematol 146:282-91. 2009
    ..This study is the first to histologically confirm perturbation of the local immune microenvironment following systemic biological therapy of follicular lymphoma...
  8. pmc Demonstration of array-based analysis for highly multiplexed PCR assays application to detection of IGH@-BCL2 translocations in FFPE follicular lymphoma specimens
    Janice M Spence
    Department of Pathology and Laboratory Medicine, University of Rochester Medical Center, 601 Elmwood Avenue, Rochester, NY 14642, USA
    J Mol Diagn 13:252-62. 2011
    ..This sensitivity allows detection of diagnostically relevant levels of IGH@-BCL2 but will not detect the rare cells with IGH@-BCL2 translocations in healthy individuals...
  9. pmc Rapid method for detection of mutations in the nucleophosmin gene in acute myeloid leukemia
    Todd S Laughlin
    Department of Pathology and Laboratory Medicine, University of Rochester Medical Center, 601 Elmwood Avenue, Rochester, NY 14642, USA
    J Mol Diagn 10:338-45. 2008
    ..Using a 100 nmol/L concentration of the LNA clamp, NPM1 mutations were detectable in a 10-fold excess of wild-type DNA. This assay may be valuable for screening disease specimens...
  10. ncbi request reprint Standardized assessment of behavior and adaptive living skills in juvenile neuronal ceroid lipofuscinosis
    Heather Adams
    University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA
    Dev Med Child Neurol 48:259-64. 2006
    ..Longitudinal assessment of behavioral and psychiatric symptoms and functional abilities is continuing and will provide much-needed data on the natural history of JNCL...
  11. pmc Sequence diversity in the glycoprotein B gene complicates real-time PCR assays for detection and quantification of cytomegalovirus
    Melinda B Nye
    Department of Pathology and Laboratory Medicine, University of Rochester Medical Center, Box 626, Rochester, NY 14642, USA
    J Clin Microbiol 43:4968-71. 2005
    ..We suggest that Q-PCR assays for viral load be rigorously tested on large panels of viral isolates to assess the impact of sequence diversity on detection as well as quantification...
  12. ncbi request reprint Another disorder finds its gene
    Denia Ramirez-Montealegre
    Center for Aging and Developmental Biology, Aab Institute of Biomedical Sciences, Rochester, NY 14642, USA
    Brain 129:1353-6. 2006
  13. doi request reprint Is the association of "cup-like" nuclei with mutation of the NPM1 gene in acute myeloid leukemia clinically useful?
    John M Bennett
    Department of Pathology, Hematopathology Section, The James P Wilmot Cancer Center, University of Rochester Medical Center, Rochester, NY 14642, USA
    Am J Clin Pathol 134:648-52. 2010
    ..Therefore, although NI blasts can be reliably identified in routine smears and although they are a specific marker of NPM1 mutation-positive cases, the majority of NPM1 mutation-positive cases lack this distinctive finding...
  14. ncbi request reprint Novel CLN3 mutation predicted to cause complete loss of protein function does not modify the classical JNCL phenotype
    Jennifer M Kwon
    Department of Neurology, 601 Elmwood Avenue, Box 631, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA
    Neurosci Lett 387:111-4. 2005
    ..She had classical disease progression, suggesting that this mutation in CLN3 mimics the more prevalent 1 kb deletion and that progression of JNCL is predominantly the result of loss of CLN3 function...
  15. ncbi request reprint Mutations of the TERT promoter are common in basal cell carcinoma and squamous cell carcinoma
    Glynis A Scott
    1 Department of Dermatology, University of Rochester School of Medicine, Rochester, NY, USA 2 Department of Pathology and Laboratory Medicine, University of Rochester School of Medicine, Rochester, NY, USA
    Mod Pathol 27:516-23. 2014
    ..The mutations were frequently homozygous or hemizygous, with little or no normal signal at the mutated positions. These data suggest that TERT promoter mutations are the most frequent putative oncogenic mutations in cutaneous cancer. ..
  16. doi request reprint A 46 XY phenotypic female adolescent with bilateral gonadal tumors consisting of five different components
    Rochelle A Simon
    Department of Pathology and Laboratory Medicine, University of Rochester Medical Center, Rochester, New York 14642, USA
    Int J Gynecol Pathol 27:407-11. 2008
    ....
  17. ncbi request reprint Is there an association between ocular adnexal lymphoma and infection with Chlamydia psittaci? The University of Rochester experience
    Roberto L Vargas
    Department of Pathology and Laboratory Medicine, University of Rochester Medical Center, 601 Elmwood Avenue, NY 14642, USA
    Leuk Res 30:547-51. 2006
    ..This would suggest possible geographic differences in the etiology of ocular adnexal lymphomas...
  18. ncbi request reprint Homogeneous amplification nucleobase quenching assay to detect the E474Q LCHAD deficiency mutation
    John H McClaskey
    Department of Pathology and Laboratory Medicine, University of Rochester Medical Center, Rochester, NY 14642, USA
    Genet Test 9:1-5. 2005
    ....
  19. ncbi request reprint Re: Prognostic significance of a short sequence insertion in the MCL-1 promoter in chronic lymphocytic leukemia
    Roberto L Vargas
    J Natl Cancer Inst 97:1089-90; author reply 1093-5. 2005
  20. ncbi request reprint Imatinib: resisting the resistance
    Paul G Rothberg
    Leuk Res 27:977-8. 2003