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Genomes and GenesSpecies | Thomas W PriorSummaryAffiliation: The Ohio State University Country: USA Publications
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Publications
Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2Thomas 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...
Experience and strategy for the molecular testing of Duchenne muscular dystrophyThomas 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....
Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephalyKim 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...- A feasibility study for the newborn screening of spinal muscular atrophyRobert 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... - Assessment of liquid microbead arrays for the screening of newborns for spinal muscular atrophyRobert 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... - Spinal muscular atrophy diagnosticsThomas 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... - Newborn and carrier screening for spinal muscular atrophyThomas 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... - Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patientsHeather 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... - Newborn screening for spinal muscular atrophy by calibrated short-amplicon melt profilingSteven 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... - A positive modifier of spinal muscular atrophy in the SMN2 geneThomas 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... - Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2Matthew 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... - Mutation screening in juvenile polyposis syndromeRobert 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.... - Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical featuresRobert 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... - Unexpected detection of dystrophin gene deletions by array comparative genomic hybridizationCatherine 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... - Identifying mutations for MYH-associated polyposisThomas 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... - Impaired myocardial perfusion reserve and fibrosis in Friedreich ataxia: a mitochondrial cardiomyopathy with metabolic syndromeSubha 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... - Cdc25A regulates matrix metalloprotease 1 through Foxo1 and mediates metastasis of breast cancer cellsXiaoling Feng
Department of Pathology, Ohio State University, Columbus, Ohio 43210, USA
Mol Cell Biol 31:3457-71. 2011.... - Technical standards and guidelines for myotonic dystrophy type 1 testingThomas 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... - Perspectives and diagnostic considerations in spinal muscular atrophyThomas 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... - Leigh disease with mitochondrial DNA A8344G mutation: case report and brief reviewChang 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... - Spinal muscular atrophy: newborn and carrier screeningThomas 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... - Spinal muscular atrophy: a time for screeningThomas 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... - Genetically characterized positive control cell lines derived from residual clinical blood samplesSusan H Bernacki
Department of Pathology, Duke University Medical Center, Durham, NC, USA
Clin Chem 51:2013-24. 2005..Sustainable implementation of the process could help alleviate the current shortage of positive control materials... - Determination of gene dosage. Utilization of endogenous and exogenous internal standardsThomas W Prior
Department of Pathology, Ohio State University, Columbus, OH, USA
Methods Mol Biol 217:3-12. 2003 - Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephalyGail 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... - Technical standards and guidelines for spinal muscular atrophy testingThomas 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... - 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..These data suggest that the effectiveness of screening with immunohistochemical analysis of the mismatch-repair proteins would be similar to that of the more complex strategy of genotyping for microsatellite instability... - Sphingosine kinase-1 expression correlates with poor survival of patients with glioblastoma multiforme: roles of sphingosine kinase isoforms in growth of glioblastoma cell linesJames 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... - Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposisKevin Sweet
Clinical Cancer Genetics Program, Comprehensive Cancer Center, The Ohio State University, Columbus, USA
JAMA 294:2465-73. 2005..Rereview of histology results by a dedicated gastrointestinal pathologist should be considered routinely, as organ-specific surveillance rests on defining syndromic diagnosis... - Natural history of denervation in SMA: relation to age, SMN2 copy number, and functionKathryn 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... - Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cellsSusanna 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... - Somatic acquisition and signaling of TGFBR1*6A in cancerBoris 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... - Parents of children with spinal muscular atrophy are not obligate carriers: carrier testing is important for reproductive decision-makingSusan Zeesman
Am J Med Genet 107:247-9. 2002 - 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 polymerase chHongxin 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... - Standards and guidelines for CFTR mutation testingCarolyn 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... - Technical standards and guidelines for Huntington disease testingNicholas 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... - Establishment of stably EBV-transformed cell lines from residual clinical blood samples for use in performance evaluation and quality assurance in molecular genetic testingSusan 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... - 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 laboratoriesElaine 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...