Jeffery M Vance

Jeffery M Vance

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Jeffery M Vance

Publications by authors named "Jeffery M Vance"

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100Publications

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Transcriptomic analysis of synovial extracellular RNA following knee trauma: A pilot study.

J Orthop Res 2018 Jun 28;36(6):1659-1665. Epub 2017 Nov 28.

UHealth Sports Medicine Institute, Miller School of Medicine, University of Miami, Miami, Florida.

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June 2018

2017 Year in Review and Message from the Editors to Our Reviewers.

Neurol Genet 2018 Feb 16;4(1):e221. Epub 2018 Feb 16.

Department of Neurology (S.M.P., N.E.J.), University of Utah, Salt Lake City; Hôpital Erasme (M.P.), Université Libre de Bruxelles, Belgium; University of Chicago Medical Center (R.P.R.); and University of Miami (J.M.V.), Coral Gables, FL.

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February 2018

Variants in chondroitin sulfate metabolism genes in thrombotic storm.

Thromb Res 2018 01 21;161:43-51. Epub 2017 Nov 21.

University of Miami, John P. Hussman Institute for Human Genomics, Miller School of Medicine, Biomedical Research Building, 1501 NW 10th Ave, Miami, FL 33136, United States. Electronic address:

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January 2018

2016 in Review and Message from the Editors to our Reviewers.

Neurol Genet 2017 Feb 15;3(1):e132. Epub 2017 Feb 15.

Department of Neurology (S.M.P., N.E.J.), University of Utah, Salt Lake City; Hôpital de la Salpêtrière (A.D.), Paris, France; Hôpital Erasme (M.P.), Université Libre de Bruxelles, Belgium; University of Chicago Medical Center (R.P.R.); and University of Miami (J.M.V.), FL.

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February 2017

DNA variants in CACNA1C modify Parkinson disease risk only when vitamin D level is deficient.

Neurol Genet 2016 Jun 12;2(3):e72. Epub 2016 Apr 12.

John P. Hussman Institute for Human Genomics (L.W., L.M., G.W.B., E.R.M., M.A.P.-V., J.M.V., W.K.S.), and Dr. John T. Macdonald Foundation Department of Human Genetics (L.W., G.W.B., E.R.M., M.A.P.-V., J.M.V., W.K.S.), Miller School of Medicine, University of Miami, FL; Departments of Neurology (M.L.E.), and Pathology (J.C.R.), Emory University, Atlanta, GA; Department of Epidemiology and Biostatistics and Institute for Computational Biology (J.L.H.), Case Western Reserve University, Cleveland, OH; Veterans Affairs Puget Sound Health Care System and Department of Neurology (C.P.Z.), University of Washington, Seattle, WA; and Department of Neurology (H.P.), University of Alabama at Birmingham, AL.

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June 2016

ABCA7 frameshift deletion associated with Alzheimer disease in African Americans.

Neurol Genet 2016 Jun 17;2(3):e79. Epub 2016 May 17.

John P. Hussman Institute for Human Genomics (H.N.C., B.W.K., S.R., K.L.H.-N., M.A.K., P.L.W., D.V.B., D.M.D., M.L.C., J.M.V., J.R.G., G.W.B., E.R.M., R.M.C., M.A.P.-V.), Department of Neurology (H.N.C., J.M.V., M.A.P.-V.), Dr. John T. Macdonald Foundation Department of Human Genetics (D.M.D., M.L.C., J.M.V., J.R.G., G.W.B., E.R.M., R.M.C.), Miller School of Medicine, University of Miami, FL; The Taub Institute for Research on Alzheimer's Disease and the Aging Brain (B.N.V., R.M.), Gertrude H. Sergievsky Center, Departments of Neurology, Psychiatry, and Epidemiology, College of Physicians and Surgeons, Columbia University, New York, NY; Department of Pathology and Laboratory Medicine (B.A.D., G.D.S.), University of Pennsylvania Perelman School of Medicine, Philadelphia, PA; Department of Biology (R.L., G.S.B., M.A.P.-V.), North Carolina A&T State University, Greensboro, NC; Departments of Medicine, Neurology, Ophthalmology, Genetics & Genomics, Epidemiology, and Biostatistics (L.A.F.), Boston University, MA; and Department of Epidemiology and Biostatistics (J.L.H.), Institute for Computational Biology, Case Western Reserve University School of Medicine, Cleveland, OH.

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June 2016

Regional Differential Genetic Response of Human Articular Cartilage to Impact Injury.

Cartilage 2016 Apr 30;7(2):163-73. Epub 2015 Nov 30.

Department of Biomedical Engineering, University of Miami, Coral Gables, FL, USA; Division of Sports Medicine, UHealth Sports Performance and Wellness Institute, University of Miami Miller School of Medicine, Miami, FL, USA.

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April 2016

Segregation of a rare TTC3 variant in an extended family with late-onset Alzheimer disease.

Neurol Genet 2016 Feb 14;2(1):e41. Epub 2016 Jan 14.

John P. Hussman Institute for Human Genomics (M.A.K., H.N.C., K.L.H.-N., S.R., B.W.K., P.L.W., S.L.Z., E.R.M., G.W.B., J.M.V., M.L.C., J.R.G., R.M.C., M.A.P.-V.), Department of Neurology (H.N.C., S.L.Z., J.M.V., M.A.P.-V.), and Dr. John T. Macdonald Foundation Department of Human Genetics (S.L.Z., E.R.M., G.W.B., J.M.V., M.L.C., J.R.G., M.A.P.-V.), University of Miami, Miller School of Medicine, Miami, FL; Departments of Medicine, Neurology, Ophthalmology, Genetics & Genomics, Epidemiology, and Biostatistics (L.A.F.), Boston University, Boston, MA; Department of Epidemiology and Biostatistics (J.L.H.), Institute for Computational Biology, Case Western Reserve University School of Medicine, Cleveland, OH; and Department of Pathology and Laboratory Medicine (G.D.S.), University of Pennsylvania School of Medicine, Philadelphia, PA.

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February 2016

Overlap between Parkinson disease and Alzheimer disease in ABCA7 functional variants.

Neurol Genet 2016 Feb 14;2(1):e44. Epub 2016 Jan 14.

John P. Hussman Institute for Human Genomics and The Morris K. Udall Parkinson Disease Center of Excellence, Miller School of Medicine, University of Miami, FL.

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February 2016

hVGAT-mCherry: A novel molecular tool for analysis of GABAergic neurons derived from human pluripotent stem cells.

Mol Cell Neurosci 2015 Sep 16;68:244-57. Epub 2015 Aug 16.

Dr. John T Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL 33136, United States; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, United States. Electronic address:

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September 2015

Vitamin D from different sources is inversely associated with Parkinson disease.

Mov Disord 2015 Apr 27;30(4):560-6. Epub 2014 Dec 27.

John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida, USA; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miller School of Medicine, Miami, Florida, USA.

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April 2015

PARK10 is a major locus for sporadic neuropathologically confirmed Parkinson disease.

Neurology 2015 Mar 6;84(10):972-80. Epub 2015 Feb 6.

From the John P. Hussman Institute for Human Genomics (G.W.B., W.K.S., E.R.M., K.N., L.W., D.M.D., M.A.P.-V., J.M.V.) and University of Miami Brain Endowment Bank (D.C.M.), Miller School of Medicine, University of Miami, FL; Departments of Neuroscience (D.W.D., O.A.R.) and Neurology (Z.K.W.), Mayo Clinic Florida, Jacksonville; Department of Pathology & Laboratory Medicine (G.S., J.Q.T., V.M.V.D., H.I.H.), Perelman School of Medicine, Center for Neurodegenerative Disease Research, University of Pennsylvania, Philadelphia; Group Health Research Institute (E.B.L.), Seattle, WA; Departments of Psychiatry, and Genetics and Genomic Sciences (J.D.B.), Mount Sinai School of Medicine, New York, NY; Arizona Alzheimer's Consortium (T.G.B.), Phoenix; Sun Health Research Institute (T.G.B.), Sun City, AZ; Division of Neuropathology, Department of Pathology (J.C.T., O.P.), and Department of Neurology and the Solomon H. Snyder Department of Neuroscience (T.M.D.), Johns Hopkins University School of Medicine, Baltimore, MD; Kubik Laboratory for Neuropathology (M.P.F.), Massachusetts General Hospital and Harvard Medical School, Charlestown, MA; Department of Pathology and Laboratory Medicine, Indiana Alzheimer Disease Center (B.G.), and Department of Medical and Molecular Genetics (T.M.F.), Indiana University School of Medicine, Indianapolis; Departments of Neurology (L.S.H., K.M.) and Psychiatry (K.M.), Gertrude H. Sergievsky Center, and Taub Institute for Research on Alzheimer's Disease and the Aging Brain, New York; Department of Pathology and Cell Biology (J.P.V.), Taub Institute for Research on Alzheimer's Disease and the Aging Brain, New York, NY; The Parkinson's Institute (S.M.G.), Sunnyvale, CA; Departments of Pathology and Laboratory Medicine (Neuropathology) and Neurology (H.V.V.), David Geffen School of Medicine at University of California Los Angeles; Department of Pathology (T.J.M.), University of Washington School of Medicine, Seattle; VA Puget Sound Health Care System (

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March 2015

Mutation K42E in dehydrodolichol diphosphate synthase (DHDDS) causes recessive retinitis pigmentosa.

Adv Exp Med Biol 2014 ;801:165-70

Bascom Palmer Eye Institute, University of Miami, 900 NW 17th St, 33136, Miami, FL, USA,

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July 2014

Knock-down DHDDS expression induces photoreceptor degeneration in zebrafish.

Adv Exp Med Biol 2014 ;801:543-50

Bascom Palmer Eye Institute, University of Miami, 506 McKnight Building, 1638 NW 10th Ave, 33136, Miami, FL, USA,

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July 2014

Detecting genetic interactions in pathway-based genome-wide association studies.

Genet Epidemiol 2014 May 9;38(4):300-9. Epub 2014 Apr 9.

Department of Electrical and Computer Engineering, University of Miami, Coral Gables, Florida, United States of America.

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May 2014

C9ORF72 intermediate repeat copies are a significant risk factor for Parkinson disease.

Ann Hum Genet 2013 Sep 12;77(5):351-63. Epub 2013 Jul 12.

University of Miami, Miller School of Medicine, John P. Hussman Institute for Human Genomics, Biomedical Research building, 1501 NW 10th Ave, Miami, FL, 33136, USA.

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September 2013

High-resolution survey in familial Parkinson disease genes reveals multiple independent copy number variation events in PARK2.

Hum Mutat 2013 Aug 28;34(8):1071-4. Epub 2013 May 28.

John P Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida, USA.

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August 2013

Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease.

Neurology 2013 Mar 13;80(11):982-9. Epub 2013 Feb 13.

John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, FL, USA.

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March 2013

Tyrosine hydroxylase gene: another piece of the genetic puzzle of Parkinson's disease.

CNS Neurol Disord Drug Targets 2012 Jun;11(4):469-81

University of Miami, Miller School of Medicine, John P. Hussman Institute for Human Genomics, FL 33136, USA.

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June 2012

Gene expression profiles in Parkinson disease prefrontal cortex implicate FOXO1 and genes under its transcriptional regulation.

PLoS Genet 2012 Jun 28;8(6):e1002794. Epub 2012 Jun 28.

Department of Neurology, Boston University School of Medicine, Boston, Massachusetts, United States of America.

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June 2012

Derivation of autism spectrum disorder-specific induced pluripotent stem cells from peripheral blood mononuclear cells.

Neurosci Lett 2012 May 7;516(1):9-14. Epub 2012 Mar 7.

John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, 1501 NW 10th Ave, BRB 509, Miami, FL 33146, USA.

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May 2012

Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2.

J Neurol 2011 Jul 22;258(7):1234-9. Epub 2011 Jan 22.

Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Biomedical Research Building, Room 523, LC: M-860, 1501 NW 10th Avenue, Miami, FL 33136, USA.

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July 2011

Genomic medicine and neurology.

Continuum (Minneap Minn) 2011 Apr;17(2 Neurogenetics):249-67

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April 2011

Comparison of three targeted enrichment strategies on the SOLiD sequencing platform.

PLoS One 2011 Apr 29;6(4):e18595. Epub 2011 Apr 29.

John T. MacDonald Department of Human Genetics, Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, United States of America.

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April 2011

Vitamin D receptor gene as a candidate gene for Parkinson disease.

Ann Hum Genet 2011 Mar;75(2):201-10

Department of Pediatrics, Duke University Medical Center, Duke University School of Medicine, Durham, NC, USA.

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March 2011

Identifying consensus disease pathways in Parkinson's disease using an integrative systems biology approach.

PLoS One 2011 Feb 22;6(2):e16917. Epub 2011 Feb 22.

John P Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida, United States of America.

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February 2011

Inflammation, stem cells and atherosclerosis genetics.

Curr Opin Mol Ther 2010 Dec;12(6):712-23

University of Miami Leonard M Miller School of Medicine, Department of Medicine, Rosenstiel Medical Science Building, 1600 NW 10th Avenue, Miami, FL 33136, USA.

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December 2010

[Whole exome sequencing].

Rinsho Shinkeigaku 2010 Nov;50(11):952-5

Department of Human Genetics, University of Miami, Miami, FL 33136, USA.

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November 2010

A rare novel deletion of the tyrosine hydroxylase gene in Parkinson disease.

Hum Mutat 2010 Oct;31(10):E1767-71

University of Miami, Miller School of Medicine, John P. Hussman Institute for Human Genomics Miami, FL 33136, USA.

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October 2010

Gene-environment interactions in Parkinson's disease and other forms of parkinsonism.

Neurotoxicology 2010 Sep 27;31(5):598-602. Epub 2010 Apr 27.

University of Miami, Miami, FL 33101, USA.

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September 2010

Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities.

PLoS Genet 2010 Sep 23;6(9):e1001130. Epub 2010 Sep 23.

Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, United States of America.

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September 2010

Copy number variations are a rare cause of non-CMT1A Charcot-Marie-Tooth disease.

J Neurol 2010 May 1;257(5):735-41. Epub 2009 Dec 1.

Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL 33136,, USA.

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May 2010

Genome-wide linkage screen in familial Parkinson disease identifies loci on chromosomes 3 and 18.

Am J Hum Genet 2009 Apr 26;84(4):499-504. Epub 2009 Mar 26.

Dr. John T. Macdonald Foundation, Department of Human Genetics and Miami Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.

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April 2009

Nitric oxide synthase genes and their interactions with environmental factors in Parkinson's disease.

Neurogenetics 2008 Oct 29;9(4):249-62. Epub 2008 Jul 29.

University Program in Genetics and Genomics, Duke University, Durham, NC 27710, USA.

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October 2008

Pesticide exposure and risk of Parkinson's disease: a family-based case-control study.

BMC Neurol 2008 Mar 28;8. Epub 2008 Mar 28.

Center for Human Genetics, Duke University Medical Center, Durham, NC, USA.

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March 2008

Variation in the miRNA-433 binding site of FGF20 confers risk for Parkinson disease by overexpression of alpha-synuclein.

Am J Hum Genet 2008 Feb 31;82(2):283-9. Epub 2008 Jan 31.

Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA.

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February 2008

Smoking, caffeine, and nonsteroidal anti-inflammatory drugs in families with Parkinson disease.

Arch Neurol 2007 Apr;64(4):576-80

Center for Human Genetics and Department of Medicine, Duke University Medical Center, Durham, NC, USA.

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April 2007

Molecular genetics of autosomal-dominant axonal Charcot-Marie-Tooth disease.

Neuromolecular Med 2006 ;8(1-2):63-74

Center for Human Genetics, Duke University Medical Center, 595 LaSalle Street, Box 3445 DUMC, Durham, NC 27710, USA.

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March 2007

Glutathione S-transferase polymorphisms and onset age in alpha-synuclein A53T mutant Parkinson's disease.

Am J Med Genet B Neuropsychiatr Genet 2007 Mar;144B(2):254-8

Department of Neurology, University of Medicine and Dentistry of New Jersey-Robert Wood Johnson Medical School, New Brunswick, New Jersey, USA.

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March 2007

No gene is an island: the flip-flop phenomenon.

Am J Hum Genet 2007 Mar 22;80(3):531-8. Epub 2007 Jan 22.

Center for Human Genetics, Duke University Medical Center, Durham, NC, USA.

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March 2007

Molecular markers of early Parkinson's disease based on gene expression in blood.

Proc Natl Acad Sci U S A 2007 Jan 10;104(3):955-60. Epub 2007 Jan 10.

Center for Neurologic Diseases, Brigham and Women's Hospital and Harvard Medical School, 65 Landsdowne Street, Cambridge, MA 02139, USA.

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January 2007

Family-based case-control study of MAOA and MAOB polymorphisms in Parkinson disease.

Mov Disord 2006 Dec;21(12):2175-80

Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA.

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December 2006

Revealing the role of glutathione S-transferase omega in age-at-onset of Alzheimer and Parkinson diseases.

Neurobiol Aging 2006 Aug 27;27(8):1087-93. Epub 2005 Jun 27.

Department of Medicine and Center for Human Genetics, Duke University Medical Center, Box 3445, Durham, NC 27710, USA.

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August 2006

Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31.

Am J Hum Genet 2006 Aug 26;79(2):365-9. Epub 2006 May 26.

Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA.

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August 2006

A genome-wide linkage analysis of dementia in the Amish.

Am J Med Genet B Neuropsychiatr Genet 2006 Mar;141B(2):160-6

Center for Human Genetics Research and Department of Molecular Physiology and Biophysics, Vanderbilt University Medical Center, Nashville, Tennessee 37232, USA.

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March 2006

Combinatorial Mismatch Scan (CMS) for loci associated with dementia in the Amish.

BMC Med Genet 2006 Mar 3;7:19. Epub 2006 Mar 3.

Center for Human Genetics Research and Department of Molecular Physiology and Biophysics, Vanderbilt University Medical Center, Nashville, TN, USA.

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March 2006

Mechanisms of disease: a molecular genetic update on hereditary axonal neuropathies.

Nat Clin Pract Neurol 2006 Jan;2(1):45-53

Department of Psychiatry, Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA.

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January 2006

Emerging pathways for hereditary axonopathies.

J Mol Med (Berl) 2005 Dec 31;83(12):935-43. Epub 2005 Aug 31.

Center for Human Genetics, Duke University Medical Center, 595 LaSalle Street, Box 3445 DUMC, Durham, NC 27710, USA.

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December 2005

SNPselector: a web tool for selecting SNPs for genetic association studies.

Bioinformatics 2005 Nov 22;21(22):4181-6. Epub 2005 Sep 22.

The Duke Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA.

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November 2005

Identification of risk and age-at-onset genes on chromosome 1p in Parkinson disease.

Am J Hum Genet 2005 Aug 28;77(2):252-64. Epub 2005 Jun 28.

Department of Medicine and Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA.

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August 2005

Association between the neuron-specific RNA-binding protein ELAVL4 and Parkinson disease.

Hum Genet 2005 Jun 13;117(1):27-33. Epub 2005 Apr 13.

Department of Medicine and Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA.

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June 2005

Different mutations in carbohydrate sulfotransferase 6 (CHST6) gene cause macular corneal dystrophy types I and II in a single sibship.

Am J Ophthalmol 2005 Jun;139(6):1118-20

Department of Ophthalmology, Duke University Medical Center, Durham, NC 27710, USA.

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June 2005

Statistical Viewer: a tool to upload and integrate linkage and association data as plots displayed within the Ensembl genome browser.

BMC Bioinformatics 2005 Apr 12;6:95. Epub 2005 Apr 12.

The Duke Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA.

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April 2005

Comprehensive association analysis of APOE regulatory region polymorphisms in Alzheimer disease.

Neurogenetics 2004 Dec 29;5(4):201-8. Epub 2004 Sep 29.

Department of Medicine and Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA.

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December 2004

Linkage disequilibrium and haplotype tagging polymorphisms in the Tau H1 haplotype.

Neurogenetics 2004 Sep 8;5(3):147-55. Epub 2004 Jun 8.

Department of Medicine, Duke University Medical Center, Durham, NC 27710, USA.

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September 2004

Alzheimer's disease genes and genetic testing in clinical practice.

JAAPA 2004 Mar;17(3):25-6, 29-30, 32

Center for Human Genetics, Duke University Medical Center, Durham, NC, USA.

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March 2004

The deacetylase HDAC6 regulates aggresome formation and cell viability in response to misfolded protein stress.

Cell 2003 Dec;115(6):727-38

Department of Pharmacology and Cancer Biology, Duke University, Durham, NC 27710, USA.

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December 2003

Ordered-subsets linkage analysis detects novel Alzheimer disease loci on chromosomes 2q34 and 15q22.

Am J Hum Genet 2003 Nov 16;73(5):1041-51. Epub 2003 Oct 16.

Department of Medicine, Duke University Medical Center, and Center for Human Genetics, Institute for Genome Sciences and Policy, Duke University, Durham, NC 27710, USA.

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November 2003

The Q7R Saitohin gene polymorphism is not associated with Alzheimer disease.

Neurosci Lett 2003 Aug;347(3):143-6

Department of Medicine and Center for Human Genetics, Institute for Genome Sciences and Policy, Box 3445, Duke University Medical Center, Durham, NC 27710, USA.

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August 2003

Identification of MeCP2 mutations in a series of females with autistic disorder.

Pediatr Neurol 2003 Mar;28(3):205-11

Department of Medicine and the Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA.

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March 2003