Thomas W Prior

Summary

Affiliation: The Ohio State University
Country: USA

Publications

  1. ncbi Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2
    Thomas W Prior
    Department of Pathology, Ohio State University, Columbus, Ohio 43210, USA
    Am J Med Genet A 130:307-10. 2004
  2. pmc Experience and strategy for the molecular testing of Duchenne muscular dystrophy
    Thomas W Prior
    Department of Pathology, The Ohio State University, 125 Hamilton Hall, 1645 Neil Ave, Columbus, Ohio 43210, USA
    J Mol Diagn 7:317-26. 2005
  3. doi Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly
    Kim L McBride
    Center for Molecular and Human Genetics, Research Institute at Nationwide Children s Hospital, Columbus, Ohio 43205, USA
    Autism Res 3:137-41. 2010
  4. ncbi A feasibility study for the newborn screening of spinal muscular atrophy
    Robert E Pyatt
    Department of Pathology, Ohio State University, Columbus, Ohio 43210, USA
    Genet Med 8:428-37. 2006
  5. ncbi Assessment of liquid microbead arrays for the screening of newborns for spinal muscular atrophy
    Robert E Pyatt
    Department of Pathology, Ohio State University, Columbus, OH 43210, USA
    Clin Chem 53:1879-85. 2007
  6. ncbi Spinal muscular atrophy diagnostics
    Thomas W Prior
    Department of Pathology, Ohio State University, Columbus, Ohio 43210, USA
    J Child Neurol 22:952-6. 2007
  7. ncbi Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients
    Heather Hampel
    Human Cancer Genetics Program, The Ohio State University Comprehensive Cancer Center, 420 West 12th Avenue, Columbus, OH 43210, USA
    Cancer Res 66:7810-7. 2006
  8. doi Newborn and carrier screening for spinal muscular atrophy
    Thomas W Prior
    Department of Pathology, The Ohio State University, Columbus, Ohio 43210, USA
    Am J Med Genet A 152:1608-16. 2010
  9. ncbi Newborn screening for spinal muscular atrophy by calibrated short-amplicon melt profiling
    Steven F Dobrowolski
    Department of Pathology, Children s Hospital of Pittsburgh, Pittsburgh, PA, USA
    Clin Chem 58:1033-9. 2012
  10. pmc A positive modifier of spinal muscular atrophy in the SMN2 gene
    Thomas W Prior
    Department of Pathology, Ohio State University, Columbus, OH 43210, USA
    Am J Hum Genet 85:408-13. 2009

Collaborators

Detail Information

Publications40

  1. ncbi Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2
    Thomas W Prior
    Department of Pathology, Ohio State University, Columbus, Ohio 43210, USA
    Am J Med Genet A 130:307-10. 2004
    ..Lastly, in cases similar to the ones described, the measurement of the SMN2 gene copy number may provide valuable prognostic information...
  2. pmc Experience and strategy for the molecular testing of Duchenne muscular dystrophy
    Thomas W Prior
    Department of Pathology, The Ohio State University, 125 Hamilton Hall, 1645 Neil Ave, Columbus, Ohio 43210, USA
    J Mol Diagn 7:317-26. 2005
    ....
  3. doi Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly
    Kim L McBride
    Center for Molecular and Human Genetics, Research Institute at Nationwide Children s Hospital, Columbus, Ohio 43205, USA
    Autism Res 3:137-41. 2010
    ..We recommend testing for mutations in PTEN for individuals with ASD or MR/DD and macrocephaly. If mutations are found, other family members should be offered testing and the adults offered cancer screening if they have a PTEN mutation...
  4. ncbi A feasibility study for the newborn screening of spinal muscular atrophy
    Robert E Pyatt
    Department of Pathology, Ohio State University, Columbus, Ohio 43210, USA
    Genet Med 8:428-37. 2006
    ..This will require the adoption of techniques for the genetic analysis of affected individuals at the newborn stage. Our objective was to examine the feasibility surrounding the newborn screening for spinal muscular atrophy...
  5. ncbi Assessment of liquid microbead arrays for the screening of newborns for spinal muscular atrophy
    Robert E Pyatt
    Department of Pathology, Ohio State University, Columbus, OH 43210, USA
    Clin Chem 53:1879-85. 2007
    ..We sought to validate liquid microbead arrays for the identification of affected individuals by direct DNA analysis...
  6. ncbi Spinal muscular atrophy diagnostics
    Thomas W Prior
    Department of Pathology, Ohio State University, Columbus, Ohio 43210, USA
    J Child Neurol 22:952-6. 2007
    ..Finally, although SMN2 produces less full-length transcript than SMN1, the number of SMN2 copies modulates the phenotype...
  7. ncbi Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients
    Heather Hampel
    Human Cancer Genetics Program, The Ohio State University Comprehensive Cancer Center, 420 West 12th Avenue, Columbus, OH 43210, USA
    Cancer Res 66:7810-7. 2006
    ..Studying all endometrial cancer patients for Lynch syndrome using a combination of MSI and immunohistochemistry for molecular prescreening followed by gene sequencing and deletion analysis is feasible and may be desirable...
  8. doi Newborn and carrier screening for spinal muscular atrophy
    Thomas W Prior
    Department of Pathology, The Ohio State University, Columbus, Ohio 43210, USA
    Am J Med Genet A 152:1608-16. 2010
    ..We also provide an estimate of the carrier frequency among individuals who accepted carrier screening, and report on patient's knowledge and attitudes toward SMA testing...
  9. ncbi Newborn screening for spinal muscular atrophy by calibrated short-amplicon melt profiling
    Steven F Dobrowolski
    Department of Pathology, Children s Hospital of Pittsburgh, Pittsburgh, PA, USA
    Clin Chem 58:1033-9. 2012
    ..To identify presymptomatic SMA patients, we created a DNA-based newborn screening assay to identify the homozygous deletions of the SMN1 (survival of motor neuron 1, telomeric) gene observed in 95%-98% of affected patients...
  10. pmc A positive modifier of spinal muscular atrophy in the SMN2 gene
    Thomas W Prior
    Department of Pathology, Ohio State University, Columbus, OH 43210, USA
    Am J Hum Genet 85:408-13. 2009
    ..We have shown not only that the SMA phenotype is modified by the number of SMN2 genes but that SMN2 sequence variations can also affect the disease severity...
  11. ncbi Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2
    Matthew D Mailman
    Department of Pathology, The Ohio State University, Columbus 43210, USA
    Genet Med 4:20-6. 2002
    ..A novel allele-specific intragenic mutation panel increases the sensitivity of SMN1 testing...
  12. doi Identifying mutations for MYH-associated polyposis
    Thomas W Prior
    Ohio State University, Columbus, Ohio, USA
    Curr Protoc Hum Genet . 2010
    ..Thus, in order to achieve the highest clinical sensitivity, it is necessary to perform whole-gene sequencing of the MYH gene. The sequencing protocol described allows one to identify mutations throughout the MYH gene...
  13. doi Unexpected detection of dystrophin gene deletions by array comparative genomic hybridization
    Catherine E Cottrell
    Department of Pathology and Laboratory Medicine, Nationwide Children s Hospital, Columbus, OH 43205, USA
    Am J Med Genet A 152:2301-7. 2010
    ..Ultimately, it is up to the clinician to promote informed decision-making within the family prior to testing, and ensure that adequate counseling is provided during follow-up...
  14. doi Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features
    Robert Pilarski
    Clinical Cancer Genetics Program, The Ohio State University, 2001 Polaris Parkway, Columbus, OH 43240, USA
    J Med Genet 48:505-12. 2011
    ..However, prior data on the component clinical features have been based primarily on compilations of cases reported before development of consensus diagnostic criteria...
  15. pmc Impaired myocardial perfusion reserve and fibrosis in Friedreich ataxia: a mitochondrial cardiomyopathy with metabolic syndrome
    Subha V Raman
    The Ohio State University, Columbus, OH 43210, USA
    Eur Heart J 32:561-7. 2011
    ..We sought to test the hypothesis that abnormal myocardial perfusion reserve and fibrosis represent early manifestations of cardiomyopathy...
  16. pmc Cdc25A regulates matrix metalloprotease 1 through Foxo1 and mediates metastasis of breast cancer cells
    Xiaoling Feng
    Department of Pathology, Ohio State University, Columbus, Ohio 43210, USA
    Mol Cell Biol 31:3457-71. 2011
    ....
  17. doi Duplication of the Xq27.3-q28 region, including the FMR1 gene, in an X-linked hypogonadism, gynecomastia, intellectual disability, short stature, and obesity syndrome
    Scott E Hickey
    Section of Human and Molecular Genetics, Nationwide Children s Hospital, Columbus, Ohio, USA
    Am J Med Genet A 161:2294-9. 2013
    ..3-q28 region. In the future, when more cases of the duplication are identified, it may become possible to more accurately determine the specific genes affected by overexpression and responsible for the phenotype...
  18. doi Spinal muscular atrophy: a time for screening
    Thomas W Prior
    Department of Pathology, The Ohio State University, Columbus, Ohio 43210, USA
    Curr Opin Pediatr 22:696-702. 2010
    ..Until an effective treatment is found to cure or arrest the progression of the disease, prevention of new cases through carrier detection and prenatal diagnosis becomes extremely important...
  19. ncbi Determination of gene dosage. Utilization of endogenous and exogenous internal standards
    Thomas W Prior
    Department of Pathology, Ohio State University, Columbus, OH, USA
    Methods Mol Biol 217:3-12. 2003
  20. ncbi Leigh disease with mitochondrial DNA A8344G mutation: case report and brief review
    Chang Yong Tsao
    Department of Pediatrics, The Ohio State University, Children s Radiological Institute, Children s Hospital, Columbus, USA
    J Child Neurol 18:62-4. 2003
    ..The A8344G mitochondrial DNA mutation may present with Leigh disease or other different atypical clinical features without myoclonic epilepsy and ragged red fibers...
  21. doi Perspectives and diagnostic considerations in spinal muscular atrophy
    Thomas W Prior
    Department of Pathology, The Ohio State University, Columbus, Ohio 43210, USA
    Genet Med 12:145-52. 2010
    ..This review attempts to highlight some of the recent advances in the understanding of the disease with a focus on molecular diagnostics...
  22. ncbi Spinal muscular atrophy: newborn and carrier screening
    Thomas W Prior
    Department of Pathology, The Ohio State University, 125 Hamilton Hall, 1645 Neil Avenue, Columbus, OH 43210, USA
    Obstet Gynecol Clin North Am 37:23-36, Table of Contents. 2010
    ..This article focuses on the prevention of SMA through population carrier screening and newborn screening as a means of ensuring early intervention for SMA...
  23. pmc Mutation screening in juvenile polyposis syndrome
    Robert E Pyatt
    Department of Pathology, Ohio State University, Hamilton Hall 125, 1645 Neil Ave, Columbus, OH 43210, USA
    J Mol Diagn 8:84-8. 2006
    ....
  24. doi Technical standards and guidelines for myotonic dystrophy type 1 testing
    Thomas W Prior
    Department of Pathology, Ohio State University, Columbus, Ohio 43210, USA
    Genet Med 11:552-5. 2009
    ..It is designed to be a checklist for genetic testing professionals who are already familiar with the disease and the methods of analysis...
  25. ncbi Genetically characterized positive control cell lines derived from residual clinical blood samples
    Susan H Bernacki
    Department of Pathology, Duke University Medical Center, Durham, NC, USA
    Clin Chem 51:2013-24. 2005
    ....
  26. ncbi Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly
    Gail E Herman
    Center for Molecular and Human Genetics, Columbus Children Research Institute, The Ohio State University, Columbus, Ohio, USA
    Am J Med Genet A 143:589-93. 2007
    ..Our findings extend those of Butler et al. and suggest that PTEN gene sequencing should be included in the genetic evaluation of this subset of autistic individuals...
  27. doi Technical standards and guidelines for spinal muscular atrophy testing
    Thomas W Prior
    Department of Pathology, Ohio State University, 1645 Neil Ave, Columbus, OH 43210, USA
    Genet Med 13:686-94. 2011
    ..It is designed to be a checklist for genetic testing professionals who are already familiar with the disease and methods of analysis...
  28. pmc Congenital lethal motor neuron disease with a novel defect in ribosome biogenesis
    Russell J Butterfield
    From the Departments of Neurology R J B, T M N, J L B, K J S and Pediatrics R J B, T J S, L X, J L B, K J S, Pediatric Motor Disorders Research Program R J B, T M N, B N, K J S, and Interdepartmental Program in Neurosciences L X, University of Utah School of Medicine, Salt Lake City, UT Ambry Genetics W Z, X L, H M L, H L, K D F G, J P W, E C C, P J S, Aliso Viejo, CA Division of Genetics and Metabolism E C C, University of California, Irvine and Department of Molecular Pathology T W P, Ohio State University, Columbus
    Neurology 82:1322-30. 2014
    ..We describe a novel congenital motor neuron disease with early demise due to respiratory insufficiency with clinical overlap with spinal muscular atrophy with respiratory distress (SMARD) type 1 but lacking a mutation in the IGHMBP2 gene...
  29. ncbi Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis
    Kevin Sweet
    Clinical Cancer Genetics Program, Comprehensive Cancer Center, The Ohio State University, Columbus, USA
    JAMA 294:2465-73. 2005
    ..Assigning a syndromic diagnosis is important because it guides management, especially surveillance and prophylactic surgery...
  30. ncbi Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer)
    Heather Hampel
    Human Cancer Genetics Program, Comprehensive Cancer Center, Ohio State University, Columbus, USA
    N Engl J Med 352:1851-60. 2005
    ..We assessed the frequency of such mutations in patients with colorectal cancer and examined strategies for molecular screening to identify patients with the syndrome...
  31. ncbi Sphingosine kinase-1 expression correlates with poor survival of patients with glioblastoma multiforme: roles of sphingosine kinase isoforms in growth of glioblastoma cell lines
    James R Van Brocklyn
    Division of Neuropathology, Department of Pathology, The Ohio State University, Columbus, Ohio 43210, USA
    J Neuropathol Exp Neurol 64:695-705. 2005
    ..Thus, SphK isoforms may be major contributors to growth of glioblastoma cells in vitro and to aggressive behavior of glioblastoma multiforme...
  32. ncbi Natural history of denervation in SMA: relation to age, SMN2 copy number, and function
    Kathryn J Swoboda
    Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT 84132, USA
    Ann Neurol 57:704-12. 2005
    ..These data highlight the potential value of such measures in increasing our understanding of pathophysiological factors involved in denervation in SMA...
  33. ncbi Parents of children with spinal muscular atrophy are not obligate carriers: carrier testing is important for reproductive decision-making
    Susan Zeesman
    Am J Med Genet 107:247-9. 2002
  34. ncbi Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cells
    Susanna M Grzeschik
    Department of Neurology and Neurological Sciences, Stanford University Medical Center, Stanford University, Stanford, CA 94305 5235, USA
    Ann Neurol 58:194-202. 2005
    ..The SMN2 gene copy number correlated inversely with the SMA phenotypic severity. This study provides the first evidence for a therapeutic indication of hydroxyurea in SMA...
  35. ncbi Somatic acquisition and signaling of TGFBR1*6A in cancer
    Boris Pasche
    Cancer Genetics Program, Division of Hematology Oncology, Department of Medicine, The Feinberg School of Medicine, Northwestern, University, Chicago, Ill 60611, USA
    JAMA 294:1634-46. 2005
    ..Epidemiological studies suggest that TGFBR1*6A may act as a tumor susceptibility allele. How TGFBR1*6A contributes to cancer development is largely unknown...
  36. pmc Detection of common disease-causing mutations in mitochondrial DNA (mitochondrial encephalomyopathy, lactic acidosis with stroke-like episodes MTTL1 3243 A>G and myoclonic epilepsy associated with ragged-red fibers MTTK 8344A>G) by real-time polymer
    Hongxin Fan
    Department of Pathology and Laboratory Medicine, The University of North Carolina, Chapel Hill, 27599 7525, USA
    J Mol Diagn 8:277-81. 2006
    ..This LightCycler assay is a rapid and reliable technique for molecular diagnosis of these mitochondrial gene mutations...
  37. ncbi Technical standards and guidelines for Huntington disease testing
    Nicholas T Potter
    Molecular Subcommittee of the Laboratory Quality Assurance Committee, Huntington Disease Molecular Working Group, and Laboratory Quality Assurance Committee, Bethesda, Maryland, USA
    Genet Med 6:61-5. 2004
    ..We take the view that these technologies may change, and thus this document may change with future review...
  38. pmc Establishment of stably EBV-transformed cell lines from residual clinical blood samples for use in performance evaluation and quality assurance in molecular genetic testing
    Susan H Bernacki
    Molecular Diagnostics Laboratory, Duke University Medical Center, Durham, North Carolina, USA
    J Mol Diagn 5:227-30. 2003
    ..The transformation rate for samples that met these criteria was 63% (10 of 16). Implementation of this process could help alleviate the shortage of positive control materials for clinical molecular genetic testing...
  39. ncbi Standards and guidelines for CFTR mutation testing
    Carolyn Sue Richards
    Molecular Subcommittee of the Laboratory Quality Assurance Committee, American College of Medical Genetics, 9650 Rockville Pike, Bethesda, MD 20914 3998, USA
    Genet Med 4:379-91. 2002
    ..We take the view that these technologies will change, and thus this document will change with future review...
  40. ncbi Technical standards and guidelines: venous thromboembolism (Factor V Leiden and prothrombin 20210G >A testing): a disease-specific supplement to the standards and guidelines for clinical genetics laboratories
    Elaine B Spector
    Factor V Leiden Working Group, University of Colorado School of Medicine, CO, USA
    Genet Med 7:444-53. 2005
    ..It may be prudent, however, to document in the laboratory record the rationale for any significant deviation from these standards and guidelines...