Thomas W Prior

Thomas W Prior

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Thomas W Prior

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Outcome measures in a cohort of ambulatory adults with spinal muscular atrophy.

Muscle Nerve 2020 Feb 11;61(2):187-191. Epub 2019 Dec 11.

Department of Neurology, Division of Neuromuscular Medicine, The Ohio State University Wexner Medical Center, Columbus, Ohio.

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http://dx.doi.org/10.1002/mus.26756DOI Listing
February 2020

A case report of genetic prion disease with two different PRNP variants.

Mol Genet Genomic Med 2020 Jan 17:e1134. Epub 2020 Jan 17.

National Prion Disease Pathology Surveillance Center, Case Western Reserve University, Cleveland, OH, USA.

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http://dx.doi.org/10.1002/mgg3.1134DOI Listing
January 2020

Impact of Age and Motor Function in a Phase 1/2A Study of Infants With SMA Type 1 Receiving Single-Dose Gene Replacement Therapy.

Pediatr Neurol 2019 09 13;98:39-45. Epub 2019 May 13.

Center for Gene Therapy at the Research Institute at Nationwide Children's Hospital, Columbus, Ohio; Department of Pediatrics, Ohio State University, Columbus, Ohio; Department of Neurology, Ohio State University, Columbus, Ohio.

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https://linkinghub.elsevier.com/retrieve/pii/S08878994193028
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http://dx.doi.org/10.1016/j.pediatrneurol.2019.05.005DOI Listing
September 2019

Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy.

N Engl J Med 2017 11;377(18):1713-1722

From the Center for Gene Therapy at the Research Institute at Nationwide Children's Hospital (J.R.M., S.A.-Z., L.R.R.-K., L.L., L.A., K.B., K.C., S.L., C.M., K.M., B.K.K.) and the Departments of Pediatrics (J.R.M., S.A.-Z., R.S., L.L., L.A., K.B., K.C., J.T.K., B.K.K.), Neurology (J.R.M., W.D.A., L.R.R.-K., A.H.M.B., B.K.K.), Pathology (T.W.P.), and Molecular and Cellular Biochemistry (A.H.M.B.), Ohio State University - both in Columbus; and AveXis, Bannockburn, IL (S.N., J.L., D.M.S., C.W., J.A.C., M.D.H., A.K., S.C., L.B., K.D.F., B.K.K.).

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http://dx.doi.org/10.1056/NEJMoa1706198DOI Listing
November 2017

Variable phenotypic expression and onset in MYH14 distal hereditary motor neuropathy phenotype in a large, multigenerational North American family.

Muscle Nerve 2017 08 20;56(2):341-345. Epub 2017 Feb 20.

Department of Neurology, Division of Neuromuscular Medicine, The Ohio State University Wexner Medical Center, 395 West 12th Avenue, Columbus, Ohio, 43210, USA.

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http://dx.doi.org/10.1002/mus.25491DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5440221PMC
August 2017

Midostaurin plus Chemotherapy for Acute Myeloid Leukemia with a FLT3 Mutation.

N Engl J Med 2017 08 23;377(5):454-464. Epub 2017 Jun 23.

From the Department of Medical Oncology, Dana-Farber Cancer Institute, Boston (R.M.S.); the Division of Biomedical Statistics and Informatics (S.J.M., K.L.) and the Alliance Statistics and Data Center (S.J.M., K.L., S.G.), Mayo Clinic, Rochester, MN; the Alliance Statistics and Data Center, Duke University, Durham, NC (B.L.S.); the Ohio State University Comprehensive Cancer Center, Columbus (S.G., C.D.B., T.W.P., G.M., R.B.K.); Medizinische Klinik und Poliklinik I, Universitätsklinikum Carl Gustav Carus der TU Dresden, Dresden (C.T., G.E.), Department of Internal Medicine III, University Hospital of Ulm, Ulm (K.D., R.F.S., H.D.), Hematology and Oncology, University of Leipzig, Leipzig (D.N.), Department of Hematology, Hemostasis, Oncology and Stem Cell Transplantation, Hannover Medical School, Hannover (J.K., A.G.), and Department of Medicine II, Hematology-Oncology, Goethe University Hospital Frankfurt, Frankfurt am Main (H.S.) - all in Germany; the Department of Biomedicine and Prevention, University Tor Vergata, Rome (F.L.-C., S.A.); the Department of Clinical Haematology, Alfred Hospital and Monash University, Melbourne, VIC, Australia (A.W.); Hospital de la Santa Creu i Sant Pau, Hematology Department, Autonomous University of Barcelona, Barcelona (J.S.), and Hospital Universitario la Fe, Hematology Department, Department of Medicine, University of Valencia, Valencia (M.A.S.) - both in Spain; the Department of Medical Oncology and Hematology, Princess Margaret Hospital, Toronto (J.M.B.); Radboud Institute Molecular Studies, Radboud University Medical Center, Nijmegen, the Netherlands (T.W.); the Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle (F.R.A.); the Division of Hematology-Oncology, Stanford Comprehensive Cancer Center, Stanford University, Stanford, CA (B.C.M.); the Leukemia Service, Department of Medicine, Memorial Sloan Kettering Cancer Center and Weill Cornell Medical College, New York (M.S.T.); and the Department of Medicine, University of Chicago, Chicago (R.A.L.).

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http://dx.doi.org/10.1056/NEJMoa1614359DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5754190PMC
August 2017

A-44G transition in SMN2 intron 6 protects patients with spinal muscular atrophy.

Hum Mol Genet 2017 07;26(14):2768-2780

Department of Pathology, Ohio State University, Columbus, OH 43210, USA.

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http://dx.doi.org/10.1093/hmg/ddx166DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886194PMC
July 2017

Spinal Muscular Atrophy: Overview of Molecular Diagnostic Approaches.

Curr Protoc Hum Genet 2016 Jan 1;88:9.27.1-9.27.13. Epub 2016 Jan 1.

Integrated Genetics, Laboratory Corporation of America Holdings, Westborough, Massachusetts.

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http://dx.doi.org/10.1002/0471142905.hg0927s88DOI Listing
January 2016

Duchenne muscular dystrophy diagnostics: it only gets better but some of the same challenges remain.

Authors:
Thomas W Prior

Clin Chem 2015 Jun 7;61(6):792-3. Epub 2015 Apr 7.

Department of Pathology, The Ohio State University, Columbus, OH.

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http://dx.doi.org/10.1373/clinchem.2015.240697DOI Listing
June 2015

Next-generation carrier screening: are we ready?

Authors:
Thomas W Prior

Genome Med 2014 26;6(8):62. Epub 2014 Aug 26.

Department of Pathology, Ohio State University, Neil Avenue, Columbus, OH 43210 USA.

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http://dx.doi.org/10.1186/s13073-014-0062-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4254436PMC
December 2014

Congenital lethal motor neuron disease with a novel defect in ribosome biogenesis.

Neurology 2014 Apr 19;82(15):1322-30. Epub 2014 Mar 19.

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 & Metabolism (E.C.C.), University of California, Irvine; and Department of Molecular Pathology (T.W.P.), Ohio State University, Columbus.

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http://www.neurology.org/content/82/15/1322.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000030
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http://dx.doi.org/10.1212/WNL.0000000000000305DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4001186PMC
April 2014

Suppression of severe achondroplasia with developmental delay and acanthosis nigricans by the p.Thr651Pro mutation.

Am J Med Genet A 2014 Jan 29;164A(1):243-50. Epub 2013 Oct 29.

Section of Human and Molecular Genetics, Nationwide Children's Hospital, Columbus, Ohio.

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http://dx.doi.org/10.1002/ajmg.a.36236DOI Listing
January 2014

Newborn screening for spinal muscular atrophy by calibrated short-amplicon melt profiling.

Clin Chem 2012 Jun 9;58(6):1033-9. Epub 2012 Apr 9.

Department of Pathology, Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.

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http://dx.doi.org/10.1373/clinchem.2012.183038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4334578PMC
June 2012

Evaluation of the human fragile X mental retardation 1 polymerase chain reaction reagents to amplify the FMR1 gene: testing in a clinical diagnostic laboratory.

Genet Test Mol Biomarkers 2012 Mar 12;16(3):187-92. Epub 2011 Oct 12.

University Laboratories-Molecular Genetics Diagnostic Laboratory, Detroit Medical Center, Detroit, Michigan 48201, USA.

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http://dx.doi.org/10.1089/gtmb.2011.0128DOI Listing
March 2012

A common spinal muscular atrophy deletion mutation is present on a single founder haplotype in the US Hutterites.

Eur J Hum Genet 2011 Oct 25;19(10):1045-51. Epub 2011 May 25.

Department of Human Genetics, The University of Chicago, Chicago, IL 60637, USA.

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http://dx.doi.org/10.1038/ejhg.2011.85DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3190247PMC
October 2011

Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features.

J Med Genet 2011 Aug 9;48(8):505-12. Epub 2011 Jun 9.

Clinical Cancer Genetics Program, The Ohio State University, 2001 Polaris Parkway, Columbus, OH 43240, USA.

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http://jmg.bmj.com/cgi/doi/10.1136/jmg.2011.088807
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http://dx.doi.org/10.1136/jmg.2011.088807DOI Listing
August 2011

Cdc25A regulates matrix metalloprotease 1 through Foxo1 and mediates metastasis of breast cancer cells.

Mol Cell Biol 2011 Aug 13;31(16):3457-71. Epub 2011 Jun 13.

Department of Pathology, Ohio State University, Columbus, Ohio 43210, USA.

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http://dx.doi.org/10.1128/MCB.05523-11DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3147788PMC
August 2011

Technical standards and guidelines for spinal muscular atrophy testing.

Genet Med 2011 Jul;13(7):686-94

Department of Pathology, Ohio State University, 1645 Neil Ave, Columbus, OH 43210, USA.

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http://dx.doi.org/10.1097/GIM.0b013e318220d523DOI Listing
July 2011

SMAD4 mutation segregating in a family with juvenile polyposis, aortopathy, and mitral valve dysfunction.

Am J Med Genet A 2011 May 4;155A(5):1165-9. Epub 2011 Apr 4.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

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http://doi.wiley.com/10.1002/ajmg.a.33968
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http://dx.doi.org/10.1002/ajmg.a.33968DOI Listing
May 2011

Spinal muscular atrophy: a time for screening.

Authors:
Thomas W Prior

Curr Opin Pediatr 2010 Dec;22(6):696-702

Department of Pathology, The Ohio State University, Columbus, Ohio 43210, USA.

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http://dx.doi.org/10.1097/MOP.0b013e32833f3046DOI Listing
December 2010

Newborn and carrier screening for spinal muscular atrophy.

Am J Med Genet A 2010 Jul;152A(7):1608-16

Department of Pathology, The Ohio State University, Columbus, Ohio 43210, USA.

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http://dx.doi.org/10.1002/ajmg.a.33474DOI Listing
July 2010

Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly.

Autism Res 2010 Jun;3(3):137-41

Center for Molecular and Human Genetics, Research Institute at Nationwide Children's Hospital, Columbus, Ohio 43205, USA.

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http://dx.doi.org/10.1002/aur.132DOI Listing
June 2010

Perspectives and diagnostic considerations in spinal muscular atrophy.

Authors:
Thomas W Prior

Genet Med 2010 Mar;12(3):145-52

Department of Pathology, The Ohio State University, Columbus, Ohio 43210, USA.

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http://dx.doi.org/10.1097/GIM.0b013e3181c5e713DOI Listing
March 2010

Spinal muscular atrophy: newborn and carrier screening.

Authors:
Thomas W Prior

Obstet Gynecol Clin North Am 2010 Mar;37(1):23-36, Table of Contents

Department of Pathology, The Ohio State University, 125 Hamilton Hall, 1645 Neil Avenue, Columbus, OH 43210, USA.

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http://dx.doi.org/10.1016/j.ogc.2010.03.001DOI Listing
March 2010

Identifying mutations for MYH-associated polyposis.

Curr Protoc Hum Genet 2010 Jan;Chapter 10:Unit 10.13

Ohio State University, Columbus, Ohio, USA.

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http://dx.doi.org/10.1002/0471142905.hg1013s64DOI Listing
January 2010

A positive modifier of spinal muscular atrophy in the SMN2 gene.

Am J Hum Genet 2009 Sep 27;85(3):408-13. Epub 2009 Aug 27.

Department of Pathology, Ohio State University, Columbus, OH 43210, USA.

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http://dx.doi.org/10.1016/j.ajhg.2009.08.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2771537PMC
September 2009

Technical standards and guidelines for myotonic dystrophy type 1 testing.

Authors:
Thomas W Prior

Genet Med 2009 Jul;11(7):552-5

Department of Pathology, Ohio State University, Columbus, Ohio 43210, USA.

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http://dx.doi.org/10.1097/GIM.0b013e3181abce0fDOI Listing
July 2009

Carrier screening for spinal muscular atrophy.

Authors:
Thomas W Prior

Genet Med 2008 Nov;10(11):840-2

Department of Pathology, The Ohio State University, Columbus, Ohio 43210, USA.

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http://dx.doi.org/10.1097/GIM.0b013e318188d069DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3110347PMC
November 2008

Assessment of liquid microbead arrays for the screening of newborns for spinal muscular atrophy.

Clin Chem 2007 Nov 21;53(11):1879-85. Epub 2007 Sep 21.

Department of Pathology, Ohio State University, Columbus, OH 43210, USA.

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http://dx.doi.org/10.1373/clinchem.2007.092312DOI Listing
November 2007

Spinal muscular atrophy diagnostics.

Authors:
Thomas W Prior

J Child Neurol 2007 Aug;22(8):952-6

Department of Pathology, Ohio State University, Columbus, Ohio 43210, USA.

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http://dx.doi.org/10.1177/0883073807305668DOI Listing
August 2007

Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly.

Am J Med Genet A 2007 Mar;143A(6):589-93

Center for Molecular and Human Genetics, Columbus Children Research Institute, The Ohio State University, Columbus, Ohio, USA.

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http://dx.doi.org/10.1002/ajmg.a.31619DOI Listing
March 2007

A feasibility study for the newborn screening of spinal muscular atrophy.

Genet Med 2006 Jul;8(7):428-37

Department of Pathology, Ohio State University, Columbus, Ohio 43210, USA.

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http://dx.doi.org/10.1097/01.gim.0000227970.60450.b2DOI Listing
July 2006

Mutation screening in juvenile polyposis syndrome.

J Mol Diagn 2006 Feb;8(1):84-8

Department of Pathology, Ohio State University, Hamilton Hall 125, 1645 Neil Ave., Columbus, OH 43210, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1867574PMC
http://dx.doi.org/10.2353/jmoldx.2006.050072DOI Listing
February 2006

Experience and strategy for the molecular testing of Duchenne muscular dystrophy.

J Mol Diagn 2005 Aug;7(3):317-26

Department of Pathology, The Ohio State University, 125 Hamilton Hall, 1645 Neil Ave., Columbus, Ohio 43210, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1867542PMC
http://dx.doi.org/10.1016/S1525-1578(10)60560-0DOI Listing
August 2005

Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cells.

Ann Neurol 2005 Aug;58(2):194-202

Department of Neurology and Neurological Sciences, Stanford University Medical Center, Stanford University, Stanford, CA 94305-5235, USA.

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http://dx.doi.org/10.1002/ana.20548DOI Listing
August 2005

Sphingosine kinase-1 expression correlates with poor survival of patients with glioblastoma multiforme: roles of sphingosine kinase isoforms in growth of glioblastoma cell lines.

J Neuropathol Exp Neurol 2005 Aug;64(8):695-705

Division of Neuropathology, Department of Pathology, The Ohio State University, Columbus, Ohio 43210, USA.

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http://dx.doi.org/10.1097/01.jnen.0000175329.59092.2cDOI Listing
August 2005

Natural history of denervation in SMA: relation to age, SMN2 copy number, and function.

Ann Neurol 2005 May;57(5):704-12

Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT 84132, USA.

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http://dx.doi.org/10.1002/ana.20473DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4334582PMC
May 2005

Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2.

Am J Med Genet A 2004 Oct;130A(3):307-10

Department of Pathology, Ohio State University, Columbus, Ohio 43210, USA.

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http://dx.doi.org/10.1002/ajmg.a.30251DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4349519PMC
October 2004

Technical standards and guidelines for Huntington disease testing.

Genet Med 2004 Jan-Feb;6(1):61-5

Molecular Subcommittee of the Laboratory Quality Assurance Committee, Huntington Disease Molecular Working Group, and Laboratory Quality Assurance Committee, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1097/01.gim.0000106165.74751.15DOI Listing
July 2004

Determination of gene dosage. Utilization of endogenous and exogenous internal standards.

Authors:
Thomas W Prior

Methods Mol Biol 2003 ;217:3-12

Department of Pathology, Ohio State University, Columbus, OH, USA.

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April 2003

Standards and guidelines for CFTR mutation testing.

Genet Med 2002 Sep-Oct;4(5):379-91

Molecular Subcommittee of the Laboratory Quality Assurance Committee, American College of Medical Genetics, 9650 Rockville Pike, Bethesda, MD 20914-3998, USA.

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https://www.goodstartgenetics.com/wp-content/uploads/ACMG-st
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http://dx.doi.org/10.1097/00125817-200209000-00010DOI Listing
March 2003

Leigh disease with mitochondrial DNA A8344G mutation: case report and brief review.

J Child Neurol 2003 Jan;18(1):62-4

Department of Pediatrics, The Ohio State University, Children's Radiological Institute, Children's Hospital, Columbus, USA.

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http://dx.doi.org/10.1177/08830738030180011401DOI Listing
January 2003

A 39-bp deletion polymorphism in PTEN in African American individuals: implications for molecular diagnostic testing.

J Mol Diagn 2002 May;4(2):114-7

Clinical Cancer Genetics and Human Cancer Genetics Programs, The Ohio State University, 420 W. 12th Avenue, Columbus, OH 43210, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S152515781060690
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1906990PMC
http://dx.doi.org/10.1016/S1525-1578(10)60690-3DOI Listing
May 2002