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List of works by Jeffery M. Vance

A Community's Awareness and Perceptions of Genomic Medicine

scientific article published on 13 May 2009

A PvuII polymorphism detected by pEW404 (D17S64) on chromosome 17.

scientific article

A conserved sorting-associated protein is mutant in chorea-acanthocytosis

scientific article published in June 2001

A duplication in chromosome 4q35 is associated with hereditary benign intraepithelial dyskeratosis

scientific article

A genome-wide linkage analysis of dementia in the Amish

scientific article published on March 2006

A genome-wide search for linkage to asthma phenotypes in the genetics of asthma international network families: evidence for a major susceptibility locus on chromosome 2p.

scientific article

A genomewide scan for early-onset coronary artery disease in 438 families: the GENECARD Study

scientific article

A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo

scientific article published on 11 October 2012

A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis

scientific article

A noise-reduction GWAS analysis implicates altered regulation of neurite outgrowth and guidance in autism

scientific article

A novel mutation in the von Hippel-Lindau gene

scientific article published in August 1994

A potential novel variant of hereditary sensory neuropathy in a 61-year-old man with cough-induced syncope and vertebral artery dissection

scientific article published on June 2010

A radiation hybrid breakpoint map of the acute myeloid leukemia (AML) and limb-girdle muscular dystrophy 1A (LGMD1A) regions of chromosome 5q31 localizing 122 expressed sequences

scientific article (publication date: April 1999)

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

scientific article

A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N)

scientific article published on 9 November 2011

ABCA7 frameshift deletion associated with Alzheimer disease in African Americans.

scientific article

Absence of C9ORF72 expanded or intermediate repeats in autopsy-confirmed Parkinson's disease

scientific article

Age at onset in two common neurodegenerative diseases is genetically controlled

scientific article published on March 2002

An alpha-2-macroglobulin insertion-deletion polymorphism in Alzheimer disease

scientific article published in May 1999

Analysis of European mitochondrial haplogroups with Alzheimer disease risk

scientific article

Analysis of association at single nucleotide polymorphisms in the APOE region

scientific article published in January 2000

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

scientific article (publication date: June 2005)

Association of polymorphisms in the apolipoprotein E region with susceptibility to and progression of multiple sclerosis

scientific article (publication date: March 2002)

Association study of Parkin gene polymorphisms with idiopathic Parkinson disease

scientific article published on July 2003

Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

scientific article published on 01 September 2019

Autistic disorder and chromosome 15q11-q13: construction and analysis of a BAC/PAC contig

scientific article published in December 1999

Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2

artical

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

scientific article published on 12 July 2013

Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous: families with and without MFN2 mutations

scientific article published in August 2005

Clinical and genetic heterogeneity in familial focal segmental glomerulosclerosis

scientific article published on 01 April 1999

Clinical causes and treatment of the thrombotic storm

scientific article

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

scientific article

Comparison of three targeted enrichment strategies on the SOLiD sequencing platform

scientific article (publication date: 29 April 2011)

Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy

scientific article

Comprehensive association analysis of APOE regulatory region polymorphisms in Alzheimer disease

scientific article

Comprehensive genetic analysis of the platelet activating factor acetylhydrolase (PLA2G7) gene and cardiovascular disease in case-control and family datasets

scientific article published on 18 January 2008

Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database

scientific article

Confirmation of linkage in von Hippel-Lindau disease

scientific article published on 01 March 1990

Confirmation of linkage of oculopharyngeal muscular dystrophy to chromosome 14q11.2-q13 in American families suggests the existence of a second causal mutation

scientific article published on 01 October 1997

Convergence of miRNA expression profiling, α-synuclein interacton and GWAS in Parkinson's disease

scientific article

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

scientific article

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

scientific article published on 7 March 2012

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

scientific article published on 9 April 2014

Different Mutations in Carbohydrate Sulfotransferase 6 (CHST6) Gene Cause Macular Corneal Dystrophy Types I and II in a Single Sibship

article

Dinucleotide repeat polymorphism in the VHL region

scientific article published in March 1994

Dinucleotide repeat polymorphisms in the VHL region of human chromosome 3p25

scientific article published on 01 October 1993

Dinucleotide repeats flanking the renal carcinoma breakpoint at 3p14.2

scientific article published on 01 January 1994

Early-Onset Alzheimer Disease and Candidate Risk Genes Involved in Endolysosomal Transport

scientific article

Emerging pathways for hereditary axonopathies

scientific article

Erratum: A genome-wide search for linkage to asthma phenotypes in the genetics of asthma international network families: evidence for a major susceptibility locus on chromosome 2p

article

Evidence for Genetic Heterogeneity Supports Clinical Differences in Congenital Myasthenic Syndromes

scientific article published on 01 November 1998

Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37

article

Evidence of genetic variation for alpha-N-acetyl-D-glucosaminidase in black and white populations: a new polymorphism

scientific article

Exclusion mapping of chromosomal regions which cross hybridise to FSHD1A associated markers in FSHD1B

scientific article (publication date: October 1995)

Exclusion of Identified LGMD1 Loci from Four Dominant Limb-Girdle Muscular Dystrophy Families

article

Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family

scientific article

Expression profiling of substantia nigra in Parkinson disease, progressive supranuclear palsy, and frontotemporal dementia with parkinsonism

scientific article published in June 2005

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

scientific article published in December 2006

Fibroblast growth factor 20 polymorphisms and haplotypes strongly influence risk of Parkinson disease

scientific article

Findings from a community education needs assessment to facilitate the integration of genomic medicine into primary care ⬇️

scientific article published on September 1, 2010

Fine localization of the CMT4A locus using a PAC contig and haplotype analysis

article

Fine mapping and genetic heterogeneity in the pure form of autosomal dominant familial spastic paraplegia

article

GATA2 is associated with familial early-onset coronary artery disease

scientific article published on 20 July 2006

GWAS analysis implicates NF-κB-mediated induction of inflammatory T cells in multiple sclerosis

scientific article published on 09 June 2016

Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21

scientific article (publication date: 2002)

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

scientific article

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

scientific article published on 27 April 2010

Gene-gene interaction between FGF20 and MAOB in Parkinson disease

scientific article

Generation of disease-specific autopsy-confirmed iPSCs lines from postmortem isolated Peripheral Blood Mononuclear Cells

scientific article published on 4 November 2016

Genetic Variants of Microtubule Actin Cross-linking Factor 1 (MACF1) Confer Risk for Parkinson's Disease.

scientific article published on 28 March 2016

Genetic effects in the leukotriene biosynthesis pathway and association with atherosclerosis

scientific article published on 08 January 2009

Genetic linkage studies in Huntington disease ⬇️

scientific article published on January 1, 1978

Genetic linkage studies of chromosome 17 RFLPs in von Recklinghausen neurofibromatosis (NF1).

scientific article

Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

scientific article published on 28 February 2019

Genetic polymorphisms associated with priapism in sickle cell disease

scientific article published on 01 May 2007

Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease

scientific article

Genome-wide gene-environment study identifies glutamate receptor gene GRIN2A as a Parkinson's disease modifier gene via interaction with coffee

scientific article published in August 2011

Genome-wide linkage analyses of non-Hispanic white families identify novel loci for familial late-onset Alzheimer's disease

scientific article

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

scientific article published on 26 March 2009

Genomic convergence to identify candidate genes for Parkinson disease: SAGE analysis of the substantia nigra

scientific article

Genomic convergence: identifying candidate genes for Parkinson's disease by combining serial analysis of gene expression and genetic linkage

scientific article (publication date: 15 March 2003)

Genomic medicine and neurology

scientific article published in April 2011

Genomic screen and follow-up analysis for autistic disorder

scientific article published in January 2002

Genomic signatures of a global fitness index in a multi-ethnic cohort of women

scientific article

Global and local ancestry in African-Americans: Implications for Alzheimer's disease risk

scientific article

Glutamate receptor gene GRIN2A, coffee, and Parkinson disease

scientific article

Glutathione S-transferase omega-1 modifies age-at-onset of Alzheimer disease and Parkinson disease

scientific article (publication date: 15 December 2003)

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

scientific article

Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.

scientific article

Haplotype analysis in Icelandic families defines a minimal interval for the macular corneal dystrophy type I gene

scientific article published in September 1998

Hereditary motor and sensory neuropathy type VI with optic atrophy

scientific article

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

scientific article published on 28 May 2013

Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia

scientific article

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

scientific article (publication date: March 2003)

Identification of Novel Genes in Late-Onset Alzheimer's Disease

article

Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11p15.

scientific article

Identification of genetic polymorphisms associated with risk for pulmonary hypertension in sickle cell disease

scientific article

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

scientific article

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

scientific article

Investigation of the PARK10 gene in Parkinson disease.

scientific article

Knock-Down DHDDS Expression Induces Photoreceptor Degeneration in Zebrafish

scientific article published on 01 January 2014

Linkage disequilibrium and haplotype tagging polymorphisms in the Tau H1 haplotype

scientific article published on 8 June 2004

Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17

scientific article published on 01 May 1989

Linkage of a Gene Causing Familial Focal Segmental Glomerulosclerosis to Chromosome 11 and Further Evidence of Genetic Heterogeneity

article

Linkage of a gene causing familial membranoproliferative glomerulonephritis type III to chromosome 1

scientific article (publication date: August 2002)

Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q.

scientific article

Localization of Charcot-Marie-Tooth disease type 1a (CMT1A) to chromosome 17p11.2.

scientific article published in April 1991

Longitudinal follow-up of late-onset Alzheimer disease families.

scientific article published on July 2008

MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.

scientific article published on 19 May 2006

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

scientific article published on January 2006

Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.

scientific article

Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy

scientific article

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

scientific article published on January 2006

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

scientific article

Mutation K42E in Dehydrodolichol Diphosphate Synthase (DHDDS) Causes Recessive Retinitis Pigmentosa

article

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

scientific article

Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12

scientific article

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

scientific article (publication date: May 2004)

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

scientific article

Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease

scientific article (publication date: March 2005)

Myotonic muscular dystrophy. Calcium-dependent phosphatidate metabolism in the erythrocyte membrane

scientific article published in May 1982

NOS2A and the modulating effect of cigarette smoking in Parkinson's disease

scientific article published in September 2006

Neuropeptide Y gene polymorphisms confer risk of early-onset atherosclerosis

scientific article

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

scientific article published on 29 July 2008

No gene is an island: the flip-flop phenomenon

scientific article published on 22 January 2007

North Carolina macular dystrophy is assigned to chromosome 6

scientific article published on 01 July 1992

North Carolina macular dystrophy: exclusion map using RFLPs and microsatellites.

scientific article

Notch activation induces endothelial cell senescence and pro-inflammatory response: implication of Notch signaling in atherosclerosis

scientific article

Novel Alzheimer Disease Risk Loci and Pathways in African American Individuals Using the African Genome Resources Panel: A Meta-analysis ⬇️

scientific article published on 19 October 2020

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

scientific article

PARK10 is a major locus for sporadic neuropathologically confirmed Parkinson disease

scientific article

PGC-1α, a potential therapeutic target for early intervention in Parkinson's disease

scientific article

Partitioned pulsed-field gel electrophoresis-PCR (PPF-PCR): a new method for pulsed-field mapping for STS and microsatellites

scientific article published on May 1994

Peakwide mapping on chromosome 3q13 identifies the kalirin gene as a novel candidate gene for coronary artery disease

scientific article published on 8 February 2007

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

scientific article

Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy

scientific article published on 05 June 2009

Physical and Genetic Mapping of the CMT4A Locus and Exclusion of PMP-2 as the Defect in CMT4A

scientific article published on 01 July 1995

Polymorphic variants in tenascin-C (TNC) are associated with atherosclerosis and coronary artery disease

scientific article

Polymorphisms of the tumor suppressor gene LSAMP are associated with left main coronary artery disease

scientific article published on 03 July 2008

Prenatal diagnosis using deletion studies in Duchenne muscular dystrophy

scientific article published on 01 July 1988

Quantitative DNA pooling to increase the efficiency of linkage analysis in autosomal dominant disease

scientific article published on 01 February 1998

Rare DNA variants in the brain-derived neurotrophic factor gene increase risk for attention-deficit hyperactivity disorder: a next-generation sequencing study.

scientific article

Recombinant DNA strategies in genetic neurological diseases

scientific article published on June 1983

Reduction in the minimum candidate interval in the dominant-intermediate form of Charcot-Marie-Tooth neuropathy to D19S586 to D19S432.

scientific article

Regional Differential Genetic Response of Human Articular Cartilage to Impact Injury

scientific article published on 30 November 2015

Response to Zaykin and Shibata

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

scientific article

SNPing away at complex diseases: analysis of single-nucleotide polymorphisms around APOE in Alzheimer disease

scientific article

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

scientific article

SRRM2, a potential blood biomarker revealing high alternative splicing in Parkinson's disease

scientific article

Segregation and linkage analysis of alpha-N-acetyl-D-glucosaminidase (NAG) levels in a black family

scientific article published in February 1985

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

scientific article published on 14 January 2016

Serum lipids in the GENECARD study of coronary artery disease identify quantitative trait loci and phenotypic subsets on chromosomes 3q and 5q.

scientific article

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

scientific article

Targeted sequencing of ABCA7 identifies splicing, stop-gain and intronic risk variants for Alzheimer disease

scientific article published on 8 April 2017

The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family

scientific article (publication date: August 1994)

The Q7R Saitohin gene polymorphism is not associated with Alzheimer disease

scientific article published in August 2003

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

scientific article

The isolation of a yeast artificial chromosome (YAC) contig extending for 2 megabases in the vicinity of the Von Hippel Lindau disease gene

article

The mtDNA mutation spectrum of the progeroid Polg mutator mouse includes abundant control region multimers

scientific article

The transcription factor orthodenticle homeobox 2 influences axonal projections and vulnerability of midbrain dopaminergic neurons.

scientific article

Thrombotic storm revisited: preliminary diagnostic criteria suggested by the thrombotic storm study group

scientific article

Toxicity of expanded polyglutamine-domain proteins in Escherichia coli.

scientific article

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

scientific article published on 31 January 2008

Vitamin D from different sources is inversely associated with Parkinson disease

scientific article

Vitamin D receptor gene as a candidate gene for Parkinson disease

scientific article

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

scientific article published on 13 February 2013

Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa

scientific article

cA479 (D3S719): a cosmid mapped telomeric of the Von Hippel Lindau disease gene contains the D3S18 locus

article

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

scientific article published on 15 August 2015

hVMAT2: A Target of Individualized Medication for Parkinson's Disease.

scientific article published on 02 May 2016

myotilin Mutation found in second pedigree with LGMD1A

scientific article

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