Jeffery M. Vance

Q: What Schools Are Affiliated With Jeffery M. Vance

Jeffery M. Vance is affiliated with the following schools: Indiana University, Stanford University, University of Miami, University of Puget Sound, Duke University

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Jeffery M. Vance

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Jeffery M. Vance's Degrees

PhD Computer Science Stanford University

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Jeffery M. Vance's Published Works

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Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A (2004) (1487)
The Deacetylase HDAC6 Regulates Aggresome Formation and Cell Viability in Response to Misfolded Protein Stress (2003) (1413)
Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (2019) (1073)
A Mutation in the TRPC6 Cation Channel Causes Familial Focal Segmental Glomerulosclerosis (2005) (1018)
PGC-1α, A Potential Therapeutic Target for Early Intervention in Parkinson’s Disease (2010) (699)
Comprehensive Research Synopsis and Systematic Meta-Analyses in Parkinson's Disease Genetics: The PDGene Database (2012) (546)
Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease. (2003) (538)
Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. (2003) (526)
Mutations in the Dystrophin-Associated Protein γ-Sarcoglycan in Chromosome 13 Muscular Dystrophy (1995) (489)
No gene is an island: the flip-flop phenomenon. (2007) (469)
Molecular markers of early Parkinson's disease based on gene expression in blood (2007) (462)
Genome‐Wide Association Study Confirms SNPs in SNCA and the MAPT Region as Common Risk Factors for Parkinson Disease (2010) (455)
Huntingtin and DRPLA proteins selectively interact with the enzyme GAPDH (1996) (453)
Variation in the miRNA-433 binding site of FGF20 confers risk for Parkinson disease by overexpression of alpha-synuclein. (2008) (446)
Complete genomic screen in late-onset familial Alzheimer disease. Evidence for a new locus on chromosome 12. (1997) (377)
Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21 (2002) (368)
SNPing away at complex diseases: analysis of single-nucleotide polymorphisms around APOE in Alzheimer disease. (2000) (367)
MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. (2006) (366)
Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease (2005) (361)
Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2 (2006) (339)
Age at onset in two common neurodegenerative diseases is genetically controlled. (2002) (332)
A conserved sorting-associated protein is mutant in chorea-acanthocytosis (2001) (327)
Complete genomic screen in Parkinson disease: evidence for multiple genes. (2001) (302)
Analysis of European mitochondrial haplogroups with Alzheimer disease risk (2004) (283)
Myotilin is mutated in limb girdle muscular dystrophy 1A. (2000) (275)
Meta‐analysis of Parkinson's Disease: Identification of a novel locus, RIT2 (2012) (274)
Pesticide exposure and risk of Parkinson's disease: A family-based case-control study (2008) (271)
Genomic screen and follow-up analysis for autistic disorder. (2002) (254)
Identification of MeCP2 mutations in a series of females with autistic disorder. (2003) (246)
New insights into the genetic etiology of Alzheimer’s disease and related dementias (2022) (246)
Functional variants in the LRRK2 gene confer shared effects on risk for Crohn’s disease and Parkinson’s disease (2018) (233)
Glutathione S-transferase omega-1 modifies age-at-onset of Alzheimer disease and Parkinson disease. (2003) (224)
Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31. (2006) (221)
Convergence of miRNA Expression Profiling, α-Synuclein Interacton and GWAS in Parkinson's Disease (2011) (220)
Parkin mutations and susceptibility alleles in late‐onset Parkinson's disease (2003) (212)
A noise-reduction GWAS analysis implicates altered regulation of neurite outgrowth and guidance in autism (2011) (208)
Genetic studies of autistic disorder and chromosome 7. (1999) (207)
Identification of Novel Genes in Late-Onset Alzheimer's Disease (2000) (203)
Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17 (1989) (202)
Genome-Wide Gene-Environment Study Identifies Glutamate Receptor Gene GRIN2A as a Parkinson's Disease Modifier Gene via Interaction with Coffee (2011) (200)
The Haw River Syndrome: Dentatorubropallidoluysian atrophy (DRPLA) in an African–American family (1994) (196)
Association of single-nucleotide polymorphisms of the tau gene with late-onset Parkinson disease. (2001) (190)
A genomewide scan for early-onset coronary artery disease in 438 families: the GENECARD Study. (2004) (182)
Linkage of Tunisian autosomal recessive Duchenne–like muscular dystrophy to the pericentromeric region of chromosome 13q (1992) (181)
Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q. (1993) (179)
Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation. (1996) (170)
Genetic linkage studies in Alzheimer's disease families (1988) (167)
Analysis of linkage disequilibrium in gamma-aminobutyric acid receptor subunit genes in autistic disorder. (2000) (167)
Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa. (2011) (163)
North Carolina macular dystrophy is assigned to chromosome 6. (1992) (161)
[Whole exome sequencing]. (2010) (156)
Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy. (1995) (155)
Dementia Revealed: Novel Chromosome 6 Locus for Late-Onset Alzheimer Disease Provides Genetic Evidence for Folate-Pathway Abnormalities (2010) (148)
Expression profiling of substantia nigra in Parkinson disease, progressive supranuclear palsy, and frontotemporal dementia with parkinsonism. (2005) (147)
Identification of TMEM230 mutations in familial Parkinson’s disease (2016) (143)
Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12. (2012) (141)
Apolipoprotein E controls the risk and age at onset of Parkinson disease (2004) (140)
Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia. (2001) (140)
Fibroblast growth factor 20 polymorphisms and haplotypes strongly influence risk of Parkinson disease. (2004) (138)
Linkage of a gene causing familial focal segmental glomerulosclerosis to chromosome 11 and further evidence of genetic heterogeneity. (1999) (128)
Exome sequencing allows for rapid gene identification in a Charcot‐Marie‐Tooth family (2011) (125)
Peakwide mapping on chromosome 3q13 identifies the kalirin gene as a novel candidate gene for coronary artery disease. (2007) (123)
Association of polymorphisms in the apolipoprotein E region with susceptibility to and progression of multiple sclerosis. (2002) (123)
SNPselector: a web tool for selecting SNPs for genetic association studies (2005) (117)
Mechanisms of Disease: a molecular genetic update on hereditary axonal neuropathies (2006) (115)
A Mutation in the TRPC 6 Cation Channel Causes Familial Focal Segmental Glomerulosclerosis (2008) (114)
Smoking, caffeine, and nonsteroidal anti-inflammatory drugs in families with Parkinson disease. (2007) (113)
Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: linkage of an autosomal dominant form to chromosome 5q. (1992) (113)
Analysis of the Stargardt disease gene (ABCR) in age-related macular degeneration. (1999) (113)
A Loss‐of‐Function Variant in the Human Histidyl‐tRNA Synthetase (HARS) Gene is Neurotoxic In Vivo (2013) (111)
Vitamin D Receptor Gene as a Candidate Gene for Parkinson Disease (2011) (109)
Genomic convergence: identifying candidate genes for Parkinson's disease by combining serial analysis of gene expression and genetic linkage. (2003) (106)
Neuropeptide Y Gene Polymorphisms Confer Risk of Early-Onset Atherosclerosis (2009) (104)
Ordered-subsets linkage analysis detects novel Alzheimer disease loci on chromosomes 2q34 and 15q22. (2003) (103)
Genetic studies in autistic disorder and chromosome 15 (2000) (103)
Nitric oxide synthase genes and their interactions with environmental factors in Parkinson’s disease (2008) (100)
GATA2 Is Associated with Familial Early-Onset Coronary Artery Disease (2006) (100)
A Recurrent loss‐of‐function alanyl‐tRNA synthetase (AARS ) mutation in patients with charcot‐marie‐tooth disease type 2N (CMT2N) (2012) (98)
Ancestral origin of ApoE ε4 Alzheimer disease risk in Puerto Rican and African American populations (2018) (95)
myotilin Mutation found in second pedigree with LGMD1A. (2002) (95)
Three probands with autistic disorder and isodicentric chromosome 15. (2000) (94)
SRRM2, a Potential Blood Biomarker Revealing High Alternative Splicing in Parkinson's Disease (2010) (93)
Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy. (1998) (90)
Notch activation induces endothelial cell senescence and pro-inflammatory response: implication of Notch signaling in atherosclerosis. (2011) (89)
Evidence for heterogeneity in facioscapulohumeral muscular dystrophy (FSHD). (1993) (88)
The mtDNA mutation spectrum of the progeroid Polg mutator mouse includes abundant control region multimers. (2010) (88)
Novel Alzheimer Disease Risk Loci and Pathways in African American Individuals Using the African Genome Resources Panel: A Meta-analysis. (2020) (86)
Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7. (1999) (85)
Comparison of Three Targeted Enrichment Strategies on the SOLiD Sequencing Platform (2011) (83)
Periodic vestibulocerebellar ataxia, an autosomal dominant ataxia with defective smooth pursuit, is genetically distinct from other autosomal dominant ataxias. (1996) (83)
Report of the second international workshop on human chromosome 1 mapping 1995. (1996) (78)
Localization of Charcot-Marie-Tooth disease type 1a (CMT1A) to chromosome 17p11.2. (1991) (77)
Comprehensive genetic analysis of the platelet activating factor acetylhydrolase (PLA2G7) gene and cardiovascular disease in case-control and family datasets. (2008) (76)
Molecular genetics of autosomal-dominant axonal Charcot-Marie-Tooth disease (2007) (73)
Gene Expression Profiles in Parkinson Disease Prefrontal Cortex Implicate FOXO1 and Genes under Its Transcriptional Regulation (2012) (72)
Association between the neuron-specific RNA-binding protein ELAVL4 and Parkinson disease (2005) (72)
Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease (2013) (71)
Derivation of autism spectrum disorder-specific induced pluripotent stem cells from peripheral blood mononuclear cells (2012) (71)
Identifying Consensus Disease Pathways in Parkinson's Disease Using an Integrative Systems Biology Approach (2011) (71)
Identification of risk and age-at-onset genes on chromosome 1p in Parkinson disease. (2005) (71)
Genetic polymorphisms associated with priapism in sickle cell disease (2007) (69)
Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11p15. (1999) (69)
Vitamin D from different sources is inversely associated with Parkinson disease (2015) (69)
C9ORF72 Intermediate Repeat Copies Are a Significant Risk Factor for Parkinson Disease (2013) (66)
The gene encoding ganglioside- induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease (2001) (63)
Gene-environment interactions in Parkinson's disease and other forms of parkinsonism. (2010) (63)
Revealing the role of glutathione S-transferase omega in age-at-onset of Alzheimer and Parkinson diseases (2006) (63)
Association study of Parkin gene polymorphisms with idiopathic Parkinson disease. (2003) (62)
Convergent Pathways in Idiopathic Autism Revealed by Time Course Transcriptomic Analysis of Patient-Derived Neurons (2018) (62)
Identification of genetic polymorphisms associated with risk for pulmonary hypertension in sickle cell disease. (2008) (60)
Family-based case-control study of cigarette smoking and Parkinson disease (2005) (60)
Report of the fifth international workshop on human chromosome 1 mapping 1999 (1997) (58)
GWAS analysis implicates NF-κB-mediated induction of inflammatory T cells in multiple sclerosis (2016) (58)
Analysis of association at single nucleotide polymorphisms in the APOE region. (2000) (56)
Genetic effects in the leukotriene biosynthesis pathway and association with atherosclerosis (2009) (55)
ABCA7 frameshift deletion associated with Alzheimer disease in African Americans (2016) (53)
Genomic convergence to identify candidate genes for Parkinson disease: SAGE analysis of the substantia nigra (2005) (53)
The many faces of Charcot-Marie-Tooth disease. (2000) (52)
Mutations in corneal carbohydrate sulfotransferase 6 gene (CHST6) cause macular corneal dystrophy in Iceland. (2000) (49)
Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37. (1996) (49)
The transcription factor orthodenticle homeobox 2 influences axonal projections and vulnerability of midbrain dopaminergic neurons. (2010) (48)
PARK10 is a major locus for sporadic neuropathologically confirmed Parkinson disease (2015) (48)
Clinical and genetic heterogeneity in familial focal segmental glomerulosclerosis (1999) (47)
Genetic Complexity and Parkinson's Disease (1997) (47)
Toxicity of expanded polyglutamine‐domain proteins in Escherichia coli (1996) (46)
Thrombotic storm revisited: preliminary diagnostic criteria suggested by the thrombotic storm study group. (2011) (45)
A genome‐wide linkage analysis of dementia in the Amish (2006) (42)
Lewy body pathology is a frequent co-pathology in familial Alzheimer's disease (2003) (41)
Exon 10b of the NF1 gene represented a mutational hotspot and harbors a recurrent missense mutation y489c associated with aberrant splicing (1999) (39)
Linkage of a gene causing familial membranoproliferative glomerulonephritis type III to chromosome 1. (2002) (37)
Confirmation of linkage of hereditary partial lipodystrophy to chromosome 1q21-22. (1999) (37)
Genome-wide brain DNA methylation analysis suggests epigenetic reprogramming in Parkinson disease (2019) (36)
Linkage studies in facioscapulohumeral muscular dystrophy (FSHD). (1992) (36)
Early-Onset Alzheimer Disease and Candidate Risk Genes Involved in Endolysosomal Transport (2017) (36)
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 (2006) (36)
Segregation of a rare TTC3 variant in an extended family with late-onset Alzheimer disease (2016) (36)
Emerging pathways for hereditary axonopathies (2005) (36)
Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2 (2011) (36)
NOS2A and the modulating effect of cigarette smoking in Parkinson's disease (2006) (33)
Family‐based case–control study of MAOA and MAOB polymorphisms in Parkinson disease (2006) (32)
Linkage disequilibrium and haplotype tagging polymorphisms in the Tau H1 haplotype (2004) (32)
A duplication in chromosome 4q35 is associated with hereditary benign intraepithelial dyskeratosis. (2001) (32)
Misclassification and linkage of hereditary sensory and autonomic neuropathy type 1 as Charcot-Marie-Tooth disease, type 2B. (1996) (32)
Report of the first international workshop on human chomosome 1 mapping 1994 (1994) (32)
A Rare Novel Deletion of the Tyrosine Hydroxylase Gene in Parkinson Disease (2010) (32)
Gene‐Gene Interaction Between FGF20 and MAOB in Parkinson Disease (2008) (29)
The α-synuclein gene is not a major risk factor in familial Parkinson disease (1999) (29)
Polymorphisms of the Tumor Suppressor Gene LSAMP are Associated with Left Main Coronary Artery Disease (2008) (29)
Confirmation of linkage in von Hippel-Lindau disease. (1990) (28)
Autistic disorder and chromosome 15q11-q13: construction and analysis of a BAC/PAC contig. (1999) (27)
Confirmation of a second locus for CMT2 and evidence for additional genetic heterogeneity (1997) (27)
Physical and genetic mapping of the CMT4A locus and exclusion of PMP-2 as the defect in CMT4A. (1995) (27)
Heterogeneity in Paget disease of the bone. (2000) (27)
Overlap between Parkinson disease and Alzheimer disease in ABCA7 functional variants (2016) (26)
Author Correction: Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (2019) (26)
Absence of C9ORF72 expanded or intermediate repeats in autopsy‐confirmed Parkinson's disease (2014) (25)
Genetic Variants of Microtubule Actin Cross-linking Factor 1 (MACF1) Confer Risk for Parkinson’s Disease (2017) (25)
Copy number variations are a rare cause of non-CMT1A Charcot-Marie-Tooth disease (2010) (25)
Comprehensive association analysis of APOE regulatory region polymorphisms in Alzheimer disease (2004) (25)
Linkage studies in Charcot‐Marie‐Tooth disease type 2 (1992) (24)
hVGAT-mCherry: A novel molecular tool for analysis of GABAergic neurons derived from human pluripotent stem cells (2015) (24)
Tyrosine hydroxylase gene: another piece of the genetic puzzle of Parkinson's disease. (2012) (23)
Recombinant DNA strategies in genetic neurological diseases (1983) (22)
Haplotype analysis in Icelandic families defines a minimal interval for the macular corneal dystrophy type I gene. (1998) (22)
Clinical causes and treatment of the thrombotic storm (2012) (22)
Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 (GJB3) gene (2000) (22)
Locus heterogeneity, anticipation and reduction of the chromosome 2p minimal candidate region in autosomal dominant familial spastic paraplegia (1997) (21)
Use of a CEPH meiotic breakpoint panel to refine the locus of limb-girdle muscular dystrophy type 1A (LGMD1A) to a 2-Mb interval on 5q31. (1998) (21)
Detecting Genetic Interactions in Pathway‐Based Genome‐Wide Association Studies (2014) (20)
Report and abstracts of the First International Workshop on Human Chromosome 1 Mapping 1994. Bethesda, Maryland, March 25-27, 1994. (1994) (19)
Findings from a community education needs assessment to facilitate the integration of genomic medicine into primary care (2010) (19)
High‐Resolution Survey in Familial Parkinson Disease Genes Reveals Multiple Independent Copy Number Variation Events in PARK2 (2013) (18)
Coexistence of macular corneal dystrophy types I and II in a single sibship (1998) (17)
Physical and genetic mapping of the macular corneal dystrophy locus on chromosome 16q and exclusion of TAT and LCAT as candidate genes. (2000) (17)
Clinical and genetic heterogeneity in familial focal segmental glomerulosclerosis. International Collaborative Group for the Study of Familial Focal Segmental Glomerulosclerosis. (1999) (17)
The alpha-synuclein gene is not a major risk factor in familial Parkinson disease. (1999) (17)
Increased APOE ε4 expression is associated with the difference in Alzheimer's disease risk from diverse ancestral backgrounds (2021) (17)
Collection of Biological Samples for DNA Analysis (2005) (17)
Different mutations in carbohydrate sulfotransferase 6 (CHST6) gene cause macular corneal dystrophy types I and II in a single sibship. (2005) (17)
North Carolina macular dystrophy: exclusion map using RFLPs and microsatellites. (1991) (17)
Genetic polymorphisms of the N-acetyltransferase genes and risk of Parkinson’s disease (2003) (17)
Targeted sequencing of ABCA7 identifies splicing, stop-gain and intronic risk variants for Alzheimer disease (2017) (16)
Genetic linkage mapping of chromosome 17 markers and neurofibromatosis type I. (1989) (16)
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. (1999) (16)
Genetic linkage studies in Huntington disease. (1978) (16)
Genomewide Association Studies of LRRK2 Modifiers of Parkinson's Disease (2021) (15)
Genome-wide linkage screen in familial Parkinson disease identifies loci on chromosomes 3 and 18. (2009) (14)
Recombination of 4p16 DNA markers in an unusual family with Huntington disease. (1992) (14)
Mutation K42E in dehydrodolichol diphosphate synthase (DHDDS) causes recessive retinitis pigmentosa. (2014) (14)
Methods of Genotyping (2005) (14)
DNA variants in CACNA1C modify Parkinson disease risk only when vitamin D level is deficient (2016) (14)
Linkage analysis in autosomal dominant limb girdle muscular dystrophy (1987) (14)
Fine mapping and genetic heterogeneity in the pure form of autosomal dominant familial spastic paraplegia (2001) (14)
Inflammation, stem cells and atherosclerosis genetics. (2010) (13)
The Q7R Saitohin gene polymorphism is not associated with Alzheimer disease (2003) (13)
Charcot‐Marie‐Tooth Disease Type 2 (1999) (13)
Genetic linkage studies of chromosome 17 RFLPs in von Recklinghausen neurofibromatosis (NF1). (1987) (13)
Evidence of genetic variation for alpha-N-acetyl-D-glucosaminidase in black and white populations: a new polymorphism. (1980) (13)
Knock-down DHDDS expression induces photoreceptor degeneration in zebrafish. (2014) (12)
Report of the fourth international workshop on human chromosome 1 mapping 1998 (1999) (12)
Fine localization of the CMT4A locus using a PAC contig and haplotype analysis (1998) (12)
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 (2007) (12)
Complete genomic screen in Parkinson Disease (2001) (12)
RNA editing alterations in a multi-ethnic Alzheimer disease cohort converge on immune and endocytic molecular pathways. (2019) (11)
Glutathione S‐transferase polymorphisms and onset age in α‐synuclein A53T mutant Parkinson's disease (2007) (11)
Combinatorial Mismatch Scan (CMS) for loci associated with dementia in the Amish (2006) (11)
A Genomic Search for Alzheimer's Disease Genes (2002) (10)
Use of local genetic ancestry to assess TOMM40-523′ and risk for Alzheimer disease (2020) (10)
Statistical Viewer: a tool to upload and integrate linkage and association data as plots displayed within the Ensembl genome browser (2005) (10)
Transcriptomic analysis of synovial extracellular RNA following knee trauma: A pilot study (2018) (9)
Confirmation of linkage of oculopharyngeal muscular dystrophy to chromosome 14q11.2-q13 in American families suggests the existence of a second causal mutation (1997) (9)
Genomic Signatures of a Global Fitness Index in a Multi‐Ethnic Cohort of Women (2013) (9)
Genetic complexity and Parkinson's disease. Deane Laboratory Parkinson Disease Research Group. (1997) (9)
Corrigendum: Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A (2004) (9)
Reduction in the minimum candidate interval in the dominant-intermediate form of Charcot-Marie-Tooth neuropathy to D19S586 to D19S432 (2002) (8)
Dynamic Gene Expression Profile Changes in Synovial Fluid Following Meniscal Injury; Osteoarthritis (OA) Markers Found (2014) (8)
hVMAT2: A Target of Individualized Medication for Parkinson’s Disease (2016) (8)
Erratum: Glutathione S-transferase omega-1 modifies age-at-onset of Alzheimer disease and Parkinson disease (Human Molecular Genetics (2003) vol. 12 (3259-3267)) (2004) (8)
Segregation and linkage analysis of α-N-acetyl-D-glucosaminidase (NAG) levels in a black family (1985) (7)
Protein: protein interactions in Alzheimer's disease and the CAG triplet repeat diseases. (1996) (7)
Prenatal diagnosis using deletion studies in Duchenne muscular dystrophy (1988) (7)
Clinical and Genetic Profiles of the Aging Sickle Cell Patient. (2005) (7)
Quantitative DNA pooling to increase the efficiency of linkage analysis in autosomal dominant disease (1998) (7)
A locus at 19q13.31 significantly reduces the ApoE ε4 risk for Alzheimer’s Disease in African Ancestry (2022) (6)
A novel duplication involving PRDM13 in a Turkish family supports its role in North Carolina macular dystrophy (NCMD/MCDR1) (2021) (6)
Longitudinal follow‐up of late‐onset Alzheimer disease families (2008) (6)
Exclusion mapping of chromosomal regions which cross hybridise to FSHD1A associated markers in FSHD1B (1995) (6)
Motivations for Participation in Parkinson Disease Genetic Research Among Hispanics versus Non-Hispanics (2019) (6)
Systematic gene mapping in man: data management considerations. (1988) (6)
Evidence for Genetic Heterogeneity Supports Clinical Differences in Congenital Myasthenic Syndromes (1998) (6)
Linkage studies in peripheral neurofibromatosis. (1987) (6)
Genomic Medicine and Neurology (2011) (5)
Gabapentin Relieves Vertigo of Periodic Vestibulocerebellar Ataxia: 3 Cases and Possible Mechanism (2021) (5)
Lower Levels of Education Are Associated with Cognitive Impairment in the Old Order Amish. (2020) (5)
Mutant C. elegans mitofusin leads to selective removal of mtDNA heteroplasmic deletions across generations to maintain fitness (2022) (4)
Alzheimer's disease genes and genetic testing in clinical practice. (2004) (4)
Regional Differential Genetic Response of Human Articular Cartilage to Impact Injury (2015) (4)
THE PUERTO RICO ALZHEIMER DISEASE INITIATIVE (PRADI): A MULTISOURCE ASCERTAINMENT APPROACH (2017) (4)
Derivation of stem cell line UMi028-A-2 containing a CRISPR/Cas9 induced Alzheimer's disease risk variant p.S1038C in the TTC3 gene. (2021) (4)
Exclusion of Identified LGMD1 Loci from Four Dominant Limb-Girdle Muscular Dystrophy Families (1998) (4)
Genetic Polymorphisms Associated with Risk for Pulmonary Hypertension and Proteinuria in Sickle Cell Disease. (2004) (4)
Glutathione S-transferase polymorphisms and onset age in alpha-synuclein A53T mutant Parkinson's disease. (2007) (4)
Manifestations of Alzheimer’s disease genetic risk in the blood are evident in a multiomic analysis in healthy adults aged 18 to 90 (2022) (4)
Dissecting the role of Amerindian genetic ancestry and the ApoE ε4 allele on Alzheimer disease in an admixed Peruvian population (2020) (4)
Segregation and linkage analysis of alpha-N-acetyl-D-glucosaminidase (NAG) levels in a black family. (1985) (4)
Identifying differential regulatory control of APOE ɛ4 on African versus European haplotypes as potential therapeutic targets (2022) (4)
Variants in chondroitin sulfate metabolism genes in thrombotic storm. (2018) (4)
Fourth International Workshop on Human Chromosome 1 Mapping 1998, Sanger Centre, Cambridge, United Kingdom, June 25-27 1998: Report (1998) (3)
Screening for MECP2 mutations in females with autistic disorder (2001) (3)
Effects of Single Nucleotide Polymorphisms of the β2 Adrenergic Receptor and of Adenylate Cyclase on Sickle Red Cell Adhesion to Laminin. (2004) (3)
The Puerto Rico Alzheimer Disease Initiative (PRADI): A Multisource Ascertainment Approach (2019) (3)
ABCA7 FRAMESHIFT DELETION ASSOCIATED WITH ALZHEIMER’S DISEASE IN AFRICAN AMERICANS (2016) (3)
Neuroacanthocytosis with Low Apoproteinβ and Absent Pre-β Lipoprotein: A New Disorder or a New Finding? (1987) (3)
Charcot-Marie-Tooth Neuropathy Type 4A (2013) (3)
Further exclusion of FSHD1B from the telomeric region of 10q (1997) (3)
Dissecting the role of Amerindian genetic ancestry and ApoE ε4 allele on Alzheimer disease in an admixed Peruvian population (2020) (3)
Mutant C. elegans mitofusin leads to selective removal of mtDNA heteroplasmic deletions at different rates across generations (2019) (2)
Dementia revealed: Novel chromosome 6 locus for late-onset Alzheimer's disease provides genetic evidence for folate-pathway abnormalities (2010) (2)
Characterization of asthma, atopy and associated phenotypes in families identified through child probands with physician diagnosed asthma. (2000) (2)
Response to Zaykin and Shibata. (2008) (2)
Increased APOEε4 expression is associated with reactive A1 astrocytes and the difference in Alzheimer Disease risk from diverse ancestral backgrounds (2020) (2)
A Recurrent Loss‐of‐Function Alanyl‐tRNA Synthetase (AARS) Mutation in Patients with Charcot‐Marie‐Tooth Disease Type 2N (CMT2N) (2014) (2)
Identifying Genetic Factors in Parkinson Disease—Reply (2002) (2)
IDENTIFICATION OF NOVEL CANDIDATE GENES FOR EARLY-ONSET ALZHEIMER'S DISEASE THROUGH INTEGRATED WHOLE-EXOME SEQUENCING AND EXOME CHIP ARRAY ASSOCIATION ANALYSIS (2016) (2)
Genetic variants in the SHISA6 gene are associated with delayed cognitive impairment in two family datasets (2021) (2)
Immune and Inflammatory Pathways Implicated by Whole Blood Transcriptomic Analysis in a Diverse Ancestry Alzheimer's Disease Cohort. (2020) (2)
The Alzheimer’s disease sequencing project–follow up study (ADSP‐FUS): Increasing ethnic diversity in Alzheimer’s genetics research with addition of potential new cohorts (2020) (2)
Reply to “A role for GAPDH in apoptosis and neurodegeneration” (1996) (2)
Absence of C 9 ORF 72 expanded or intermediate repeats in autopsy confirmed Parkinson Disease (2014) (2)
Linkage of Alzheimer disease families with Puerto Rican ancestry identifies a chromosome 9 locus (2021) (2)
Generation of two iPSC lines (UMi038-A & UMi039-A) from siblings bearing an Alzheimer's disease-associated variant in SORL1. (2022) (1)
P1-361 Mapping genes affecting age-at-onset of Alzheimer’s disease in the chromosome 8 (2006) (1)
Functional analysis of candidate genes identified through whole genome sequencing in Caribbean Hispanic families for late‐onset Alzheimer disease (2020) (1)
iPSC‐derived neurons and microglia with an African‐specific ABCA7 frameshift deletion have impaired function (2020) (1)
Myotonic muscular dystrophy Calcium-dependent phosphatidate metabolism in the erythrocyte membrane (1982) (1)
APOE‐stratified genome‐wide association analysis identifies novel Alzheimer disease candidate risk loci for African Americans (2021) (1)
Converging evidence for differential regulatory control of APOEε4 on African versus European haplotypes (2021) (1)
Dissecting A Complex Disease Using Modern Techniques of Molecular Biology (2001) (1)
The Alzheimer’s Disease Sequencing Project – Follow Up Study (ADSP‐FUS): Increasing ethnic diversity in Alzheimer’s genetics research with the addition of potential new cohorts (2021) (1)
Mutations in Mitofusin 2 are a major cause for autosomal dominant axonal Charcot-Marie-Tooth neuropathy (2005) (1)
Abstract 3564: A Multi-Stage Evaluation of Genetic Association with Early-Onset Coronary Artery Disease in MYLK Gene (2007) (1)
Expression quantitative trait loci (eQTL) analysis in a diverse Alzheimer disease cohort reveals ancestry‐specific regulatory architectures (2021) (1)
IDENTIFYING A PROTECTIVE VARIANT THAT LOWERS THE RISK FOR DEVELOPING AD IN APOE-E4 CARRIERS (2018) (1)
A potential novel variant of hereditary sensory neuropathy in a 61-year-old man with cough-induced syncope and vertebral artery dissection. (2010) (1)
Molecular genetics of autosomal-dominant axonal Charcot-Marie-Tooth disease (2006) (1)
Identiﬁcation and Expression Analysis of Spastin Gene Mutations in Hereditary Spastic Paraplegia (2001) (1)
Genetic Risk Factors for Parkinson’s Disease (2007) (1)
WHOLE EXOME SEQUENCING OF LATE ONSET MULTIPLEX FAMILIES IDENTIFIES RARE CODING VARIANTS IN KNOWN AND NOVEL ALZHEIMER’S DISEASE GENES (2016) (1)
ABCA7 deletion associated with Alzheimer's disease in african americans (2015) (1)
Genetic Architecture of RNA Editing Regulation in Alzheimer Disease across Diverse Ancestral Populations. (2022) (1)
Abstract 4108: Identification of Kalirin Gene as a Novel Coronary Artery Disease Gene through Peak-Wide Association Mapping on Chromosome 3q13-21 (2006) (1)
Identification and mapping of genes in the AD region on CH 15q11-13 (2000) (0)
Clinical and genetic aspects of autosomal recessive CMT (1997) (0)
miR-433 polymorphic targeting at FGF 20 confers risk for Parkinson ’ s disease (2007) (0)
Intragenic loci within TOMM40 enhances APOE expression in human microglia (2022) (0)
Southern European genetic ancestry shows reduced APOE E4 risk for Alzheimer disease in Caribbean Hispanic population (2020) (0)
Subject Index Vol. 22, 1978 (1978) (0)
Priapism in SCD: Clinical and Genetic Correlations. (2005) (0)
Longitudinal assessment of cognitive decline in the Amish (2020) (0)
Characterization of Tau Association with Parkinson's Disease (2003) (0)
PROTECTIVE EFFECT OF EDUCATION ON COGNITIVE FUNCTION IN THE OLD ORDER AMISH (2019) (0)
Psychometric approaches to defining cognitive phenotypes in the Old Order Amish (2023) (0)
Admixed ancestral composition with Amerindian predominance at the Peruvian Alzheimer Disease Initiative (PeADI) (2022) (0)
Ancestry-related differences in chromatin accessibility and gene expression of APOE4 are associated with Alzheimer disease risk (2022) (0)
Neurology and Genomic Medicine (2007) (0)
DNA methylation in autism brains supports epigenetic-mediated effects in GABA signaling. (S35.008) (2018) (0)
Characterization of an Alzheimer disease‐associated deletion in SORL1 (2021) (0)
P3.149 Rare deletion in the tyrosine hydroxylase gene contributes to Parkinson disease risk (2009) (0)
Whole-Exome Sequencing in Multiplex Families Identifies Novel Rare Variants in Multiple Sclerosis (P05.137) (2013) (0)
Genetic risk score for Alzheimer’s disease in the Amish highlights differences in the genetic architecture compared to other European ancestry populations (2021) (0)
Database of evidence-based ranked Parkinson Disease variants (P1.199) (2015) (0)
Depressive Symptoms Associated with an Earlier Age at Onset Differ as a Function of Race‐Ethnicity: An Exploratory Analysis (2022) (0)
Education and its effect on risk and age at onset in Alzheimer disease (AD) in African Americans (2020) (0)
A STEM CELL MODEL OF A RARE, SEGREGATING TTC3 MUTATION (2018) (0)
DEGREE OF INBREEDING IN MULTIPLEX CARIBBEAN HISPANIC FAMILIES LOADED FOR EARLY-ONSET ALZHEIMER’S DISEASE (2019) (0)
Genetic Polymorphisms Associated with Priapism in Sickle Cell Disease. (2006) (0)
Whole-Exome Sequencing Identifies Novel Risk Variant for Thrombotic Storm (2011) (0)
Reply (2003) (0)
Ancestry‐specific intronic variants on the APOEɛ4 haplotype influence enhancer activity and interaction with APOE promoter (2021) (0)
Preferential preservation of constructional praxis delayed recall compared to word list delayed recall in the Amish (2021) (0)
Attitudes and Beliefs About Brain Donation Among Black Americans (2022) (0)
Association Studies of Neuropathologically-Confirmed Cases and Controls Reveals that the PARK10 Locus is a Major Contributor to Sporadic Parkinson disease. (S7.005) (2015) (0)
A novel mutation in Von Hippel-Lindau disease detected by SSCP of dideoxynucleotide sequence products (1994) (0)
PRADI cohort case‐control study on related factors of Alzheimer’s disease (2020) (0)
Abstract 3568: Genomic Convergence Identified CAPG and VAMP8 as Candidate Genes for CAD (2007) (0)
USING MASSIVELY PARALLEL REPORTER ASSAYS TO IDENTIFY PROTECTIVE FUNCTIONAL VARIANTS IN THE APOE REGION (2019) (0)
Antiphospholipid Syndrome: Clinical Characteristics of Patients and Affected Family Members From Multiplex Families. (2009) (0)
Joint linkage and association mapping of preserved cognition in the old‐order Amish (2020) (0)
Clinical characterization of a large Caribbean Hispanic family linked to chromosome 9 without ApoE4 (2021) (0)
Subject Index Vol. 87, 1999 (2000) (0)
Mutations in Mitofusin 2 are a major cause for autosomal dominant axonal CMT neuropathy (2005) (0)
Leveraging videoconferencing supports the continuity of Alzheimer research during the COVID‐19 pandemic and beyond (2021) (0)
INFLUENCE OF COMMUNITY ENGAGED FAMILY CONNECTOR IN RECRUITING AND ASCERTAINING AFRICAN AMERICANS’ FAMILY MEMBERS FOR GENOMIC RESEARCH (2017) (0)
Contents, Vol. 78, 1997 (1997) (0)
Identification of Rare Variants in Parkinson Disease Using Next-Generation Sequencing (S22.007) (2012) (0)
PATIENT-DERIVED IPSC MODEL OF AN ABCA7 FRAMESHIFT DELETION ASSOCIATED WITH ALZHEIMER’S DISEASE IN AFRICAN AMERICANS (2017) (0)
Database for Parkinson Disease Mutations and Rare Variants (2015) (0)
THE RELEVANCE OF APOE4 TO ALZHEIMER’S DISEASE IN THE PRESENCE OF LOCAL ANCESTRY DIFFERENCES (2017) (0)
Characterization of asthma, atopy and associated phenotypes in multiplex asthma families. (2002) (0)
Harnessing Chromatin 3D interactions to Understand Ancestry‐Specific Alzheimer Disease (AD) risk (2022) (0)
RESOURCE OF MULTIPLEX AFRICAN AMERICAN FAMILIES FOR WHOLE-GENOME SEQUENCING (2017) (0)
2018: Year in Review and Message from the Editors to Our Reviewers (2019) (0)
Identification of differential regulation of European versus African local ancestry haplotypes surrounding ApoEε4 (2020) (0)
EPIGENOMIC PROFILINGOF33QN1IPSCS THROUGHOUT NEURONAL DIFFERENTIATION: IMPLICATIONS FOR STUDIES OF AGE-RELATED NEURODEGENERATIVE DISORDERS DISEASE (LOAD) IN THE CONTEXT OF AGING (2019) (0)
Exploring effect of known Alzheimer disease genetic loci in the Peruvian population (2022) (0)
ELAVL4 locus confirmed in depression of Alzheimer's disease (2009) (0)
Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (2019) (0)
Examining the impact of a rare protein‐truncating SORL1 variant on AD pathology (2022) (0)
Increased APOE‐e4 expression is associated with reactive A1 astrocytes and may confer the difference in Alzheimer disease risk from different ancestral backgrounds (2020) (0)
Transcriptomic characterization of a Puerto Rican Alzheimer disease cohort implicates convergent immune‐related pathways (2020) (0)
Linkage of Parkinsonism and Alzheimer's disease with Lewy body pathology to chromosome 12 (2002) (0)
Using Oligodendrocytes for studies in Alzheimer disease (2022) (0)
Next generation sequencing as a means to detect low frequency mtDNA variants (2011) (0)
No association between the APOE gene and autistic disorder (2002) (0)
THE ALZHEIMER’S DISEASE SEQUENCING PROJECT – FOLLOW UP STUDY (ADSP-FUS): INCREASING ETHNIC DIVERSITY IN ALZHEIMER’S GENETICS RESEARCH (2019) (0)
Rare Variant Pathway Analysis Highlights the Importance of Lysosomal Pathways in Parkinson Disease (P1.049) (2014) (0)
O2-06-02: A genetic susceptibility locus for depression of Alzheimer's disease and Parkinson's disease (2008) (0)
The genetic architecture of Alzheimer disease risk in the Ohio and Indiana Amish (2021) (0)
Recruiting African American males in Alzheimer's disease education and genetics research (2020) (0)
Is specific therapy for Charcot-Marie-tooth disease in the genes? (2001) (0)
Revised guidelines for authors of gene mapping reports (2000) (0)
A Novel Protective locus significantly reduces the ApoEε4 risk for Alzheimer’s Disease in individuals of African Ancestry. (2022) (0)
Identification of autism susceptibility candidates on 7q (2000) (0)
GENOME-WIDE METHYLATION CHANGES IN THE DORSAL MOTOR NUCLEUS OF THE VAGUS CONTRIBUTE TO THE RISK OF PARKINSON DISEASE (P1.106) (2017) (0)
GENETIC VARIANTS IN ALZHEIMER’S DISEASE-ASSOCIATED REGIONS HAVE DIFFERENT EFFECTS ON RNA EDITING RATES IN AFRICAN-AMERICAN AND NON-HISPANIC WHITE POPULATIONS (2019) (0)
African locus reduces the effect of ApoE ε4 allele in Alzheimer’s disease (2021) (0)
SEQUENCING IN A LARGE SAMPLE OF ALZHEIMER’S PATIENTS (2018) (0)
Suggestive linkage and association of preserved cognition to chromosome 18 in genetically at‐risk Amish (2021) (0)
Optimal Two-Stage Testing for Family-Based Genome-wide Association Studies (0)
Mutant (2020) (0)
Association of mitochondrial haplogroups and cognitive impairment in the Amish (2022) (0)
Characterization of a diverse Frontotemporal Dementia cohort, enriched for Caribbean Hispanic patients. (2022) (0)
2017 Year in Review and Message from the Editors to Our Reviewers (2018) (0)
Award Number: W81XWH-12-1-0013 TITLE: Whole Exome Analysis of Early Onset Alzheimer’s Disease PRINCIPAL INVESTIGATOR: Margaret Pericak-Vance CONTRACTING ORGANIZATION: University of Miami (2016) (0)
Acknowledgement to the Reviews (1998) (0)
Mutant C. elegans mitofusin leads to selective removal of mtDNA heteroplasmic deletions across generations to maintain fitness (2022) (0)
Outreach and recruitment of African Americans for Alzheimer’s disease studies during the COVID‐19 pandemic (2021) (0)
Assessment of AD‐related plasma biomarkers in diverse ancestral populations (2021) (0)
Mosaic Loss of Chromosome Y in Peripheral Blood Cells and Cognitive Status in the Amish (2022) (0)
Subject Index, Vol. 78, 1997 (1997) (0)
Abstract 293: Comprehensive Genetic Analysis of the Platelet Activating Factor Acetylhydrolase Gene and Cardiovascular Disease in Case/Control and Family Datasets (2007) (0)
NEUROPSYCHIATRIC FEATURES IN AFRICAN AMERICAN (AA) AND CAUCASIAN (CA) INDIVIDUALS WITH ALZHEIMER DISEASE (AD) (2019) (0)
Analysis of Alzheimer Disease Plasma Biomarker pTau‐181 in Individuals of Diverse Admixed Ancestral Backgrounds (2022) (0)
APOLIPOPROTEIN E AND PHENOTYPIC FEATURES IN HISPANICS (2018) (0)
Characterization of Chromosomal Duplication Associated with Hereditary Benign Intraepithelial Dyskeratosis (2003) (0)
Assessing a Network‐Specific Polygenic Risk Score for Alzheimer’s Disease in the Midwestern Amish and Across Diverse Ancestries (2022) (0)
Detecting genetic loci for preservation of cognition in the Midwestern United States Amish (2022) (0)
2016 in Review and Message from the Editors to our Reviewers (2017) (0)
Notch Signaling Is A Potential Novel Target In Atherosclerosis (2011) (0)
THE PUERTO RICAN ALZHEIMER DISEASE INITIATIVE (PRADI): INITIAL CLINICAL FINDINGS (2017) (0)
TRANSCRIPTOMIC ANALYSIS OF WHOLE BLOOD IN AFRICAN AMERICAN AND NON-HISPANIC WHITE ALZHEIMER DISEASE CASES AND CONTROLS (2018) (0)
AFRICAN AMERICAN WHOLE EXOME SEQUENCING SUGGESTS RISK CODING VARIANTS IN IDH1 GENE (2018) (0)
The Peruvian Alzheimer Disease Initiative (PeADI): An international effort model to increase diversity in AD research (2022) (0)
Systemic and Local Alterations in Extracellular RNA (exRNA) Following Traumatic Knee Injury Implicate Catabolic and Inflammatory Pathways: 2774 Board #57 June 1 3 30 PM - 5 00 PM (2018) (0)
Association of a locus on chromosome 17 with earlier age at onset of cognitive impairment in a familial Amish dataset (2021) (0)
Recruitment strategies for the genetics of Alzheimer disease in the Puerto Rican population (2020) (0)
African Haplotypic Background Mitigates the Effect of APOE e4 Risk Allele in Alzheimer Disease (P2.195) (2018) (0)
Does higher educational attainment influence functional capabilities among African Americans with Alzheimer’s disease? (2021) (0)
The Relationship of Alzheimer’s Disease, Stroke and Ancestry in the Puerto Rican Alzheimer Disease Population. (2022) (0)
African and European local ancestry surrounding Apolipoprotein E has a differential biological effect upon acute amyloid beta exposure in iPSC‐differentiated astrocytes (2020) (0)
Reply to: Gabapentin Relieves Vertigo of Periodic Vestibulocerebellar Ataxia: 3 Cases and Possible Mechanism (2021) (0)
Mutant MFN2/fzo-1 selectively removes mitochondrial DNA heteroplasmy in Caenorhabditis elegans and in Charcot-Marie-Tooth patients (2019) (0)
Table 1. [Summary of Molecular Genetic Testing Used in Charcot-Marie-Tooth Neuropathy Type 4A]. (2013) (0)
Abstract 535: Stem Cell--Mediated Atherosclerosis Plaque Repair (2012) (0)
Genome‐wide association study of cognitive status and decline in the Amish (2021) (0)
Isolation and Characterization of Human Conjunctival Cell Lines From Hereditary Benign Intraepithelial Dyskeratosis Lesions (2005) (0)
Osteoarthritic Extracellular RNA Biomarkers in Synovial Fluid: 356 Board #177 May 31 9 (2017) (0)
A prescription for personalized wellness: Identification of genomic signatures of VO2max responsiveness among individuals undergoing combined aerobic and resistance training (2011) (0)
P1.126 Developing a risk model for Parkinson disease (2009) (0)
ATAC‐seq on iPSC derived astrocytes to assess chromatin accessibility differences between African and European local ancestry (2021) (0)
Ancestral Analysis of the Presenilin‐1 G206A Variant Reveals it as a Founder Event on an African Haplotype in the Puerto Rican Population (2022) (0)
Addendum to the report of the fourth international workshop on human chromosome 12 mapping 1997 (1997) (0)
P2-129 Benefits of follow-up in Alzheimer disease genetics research (2006) (0)
Whole Exome Sequencing Analysis of Common Rare Variants in Parkinson and ALS (P05.054) (2013) (0)
Genetic Variants of Microtubule Actin Cross-linking Factor 1 (MACF1) Confer Risk for Parkinson’s Disease (2016) (0)
Identification of C9ORF72 repeat-expansions in Alzheimer's sample collections (2012) (0)
EQTL ANALYSIS IDENTIFIES ANCESTRY SPECIFIC REGULATORY EFFECTS OF ALZHEIMER DISEASE ASSOCIATED VARIANTS (2019) (0)
Derivation of a CRISPR genome edited stem cell line containing a risk variant in TTC3 (2021) (0)
Successful Management of Catastrophic Thrombotic Storm in a Young Boy: A Case Report From Northern India. (2021) (0)
IDENTIFICATION OF FUNCTIONAL VARIANTS IN THE AFRICAN LOCAL ANCESTRY REGION SURROUNDING APOE ε4 (2019) (0)
The effect of global ancestry and diabetes on the 3MS score in older Puerto Ricans (2020) (0)
A PATIENT-DERIVED IPSC MODEL OF A RARE TTC3 MUTATION (2017) (0)
S1-04-06: Commonalities in the genetics of Alzheimer's disease and Parkinson's disease (2008) (0)
Exploring the role of Amerindian genetic ancestry and ApoEε4 gene on Alzheimer disease in the Peruvian population (2020) (0)
GENOME-WIDE LINKAGE ANALYSES OF AFRICAN AMERICAN FAMILIES SUPPORTS EVIDENCE OF LINKAGE TO CHROMOSOME 12 (2018) (0)
Genome‐wide association for protective variants in Alzheimer’s disease in the Midwestern Amish (2021) (0)
P4-138 Genomic convergence on chromosome 12 in Alzheimer's disease (2004) (0)
MULTI-ETHNIC ALZHEIMER’S DISEASE RELATED CHANGES OF RNA EDITING AFFECT IMMUNE REGULATION, ENDOCYTOSIS, AND AMYLOID PRECURSOR PROTEIN CATABOLISM (2018) (0)
GENOME-WIDE ASSOCIATION FOR THE PARK10 LOCUS IN IDIOPATHIC, AUTOPSY-PROVEN, LEWY BODY PARKINSON DISEASE AND AUTOPSY-PROVEN CONTROLS. (P1.001) (2017) (0)
P4-088 Association analysis of interleukin 1 (IL-1) polymorphisms with age-at-onset and risk of Alzheimer disease (2004) (0)
Dehydrodolichol Diphosphate Synthase (DHDDS) Mutation K42E Causes Retinitis Pigmentosa Phenotype (2011) (0)
Erratum (2016) (0)
GENOME-WIDE LINKAGE ANALYSIS OF CARIBBEAN HISPANIC PUERTO RICAN FAMILIES SUPPORTS EVIDENCE OF LINKAGE TO C9ORF72 REGION OF CHROMOSOME 9 (2019) (0)
A multiancestry analysis of Alzheimer’s disease coexpressed gene networks identifies a common immune signaling pathway regulated by granulocyte‐colony stimulating factor (G‐CSF) (2020) (0)
hVMAT2: A Target of Individualized Medication for Parkinson’s Disease (2016) (0)
Search for protective genetic variants in Alzheimer disease in the U.S. Midwestern Amish (2020) (0)
Development of a massively parallel reporter assay to identify functional regulatory variants in the PICALM Alzheimer disease associated locus (2020) (0)
Fine‐mapping of chromosome 9p21 linkage in Puerto Rican Alzheimer disease families. (2022) (0)
P3.116 Genome-wide signiflcant conflrmation of SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease (2009) (0)
Transgenic APOEε4/4 overexpression induces reactivity in astrocytes with a European APOEε4/4 local ancestry, but not in astrocytes with an African APOEε4/4 local ancestry (2021) (0)
Severe childhood autosomal recessive muscular dystrophy (SCARMD) in jordan exhibits heterogeneity at protein and DNA level (1996) (0)
Functional characterization of an Alzheimer disease‐associated deletion in SORL1 (2020) (0)
Intracranial Venous Sinus Thrombosis Complicated by Disseminated Intravascular Coagulation in a Teenager Following Knee Injury (2011) (0)
Gene Identification in Axonopathies by Applying Massive Whole Exome Sequencing (S27.005) (2012) (0)
Characterization of chromosome 5q35 risk locus in African Ancestry population. (2022) (0)
33Neurodegenerative Diseases and Single (2008) (0)
Linkage Analysis in Caribbean Hispanic Families with Puerto Rican Ancestry Idenitfies an Alzheimer Disease Locus on chromosome 9 (2020) (0)
Construction of a sequence contig across the CMT4A region (2001) (0)
GENOME-WIDE LINKAGE ANALYSIS OF AFRICAN-AMERICAN ALZHEIMER DISEASE FAMILIES (2019) (0)
An Effective Exercise Program For Developing Genetic Risk Predictions Of Fitness Response Among Multi-ethnic Employees: 691 (2011) (0)
THE TOMM40 REPEAT DOES NOT PROVIDE PROTECTION FOR AD FOR APOE4 CARRIERS WITH LOCAL GENOMIC AFRICAN ANCESTRY (LGA) (2019) (0)
Contents Vol. 87, 1999 (2000) (0)
Plasma pTau181 is associated with impaired cognition in the Old Order Amish and adds additional information beyond the known genetic risk factors for AD (2022) (0)
Identifying genetic factors in Parkinson disease [6] (multiple letters) (2002) (0)
MITIGATING COMPLEXITIES IN RECRUITING AND RETAINING AFRICAN AMERICAN (AA) MULTIPLEX FAMILIES FOR ALZHEIMER DISEASE RESEARCH (2019) (0)
REPURPOSING OF MONTELUKAST FOR THE TREATMENT OF ALZHEIMER’S CLINICAL TRIAL IN ALZHEIMER’S PATIENTS (2018) (0)
INVESTIGATING ANCESTRY SPECIFIC DIFFERENCES IN APOE FUNCTION USING INDUCED PLURIPOTENT STEM CELLS (2019) (0)
Table 2. [Selected GDAP1 Pathogenic Allelic Variants]. (2013) (0)
African‐ancestry based polygenic risk scores improve Alzheimer disease risk prediction in individuals of African Ancestry (2022) (0)
The Nairobi Declaration—Reducing the burden of dementia in low‐ and middle‐income countries (LMICs): Declaration of the 2022 Symposium on Dementia and Brain Aging in LMICs (2023) (0)
PATIENT SATISFACTION WITH GERIATRIC PSYCHIATRY SERVICES VIA VIDEO TELECONFERENCE (2019) (0)
Dhdds Knock-down Induces Photoreceptor Degeneration In Zebrafish (2011) (0)
Dietary Source of Vitamin D Is Associated with Parkinson Disease and Total Vitamin D Modifies the Genetic Association between Vitamin D Receptor (VDR) Gene and Parkinson Disease (P4.055) (2014) (0)
P3-205 NITROSATIVE STRESS-DEPENDENT NUP153 ALTERATION IMPAIRS NEURAL STEM CELL FUNCTION IN A MOUSE MODEL OFALZHEIMER’S DISEASE (2019) (0)
P3.148 Common genetic variants at the 5′ end of vitamin D receptor (VDR) gene are associated with Parkinson disease (PD) susceptibility (2009) (0)
HIGH-THROUGHPUT MUTATION ANALYSIS OF THE HUMAN AMINOACYL-tRNA SYNTHETASE GENES: IN SEARCH OF ADDITIONAL LOCI RESPONSIBLE FOR INHERITED PERIPHERAL NEUROPATHIES (2009) (0)
CONTINUOUS COMMUNITY ENGAGEMENT IMPROVES RECRUITMENT OF OLDER AFRICAN AMERICANS FOR GENETIC STUDIES IN ALZHEIMER’S DISEASE (2018) (0)
Familial Neurodegenerative Diseases and Single Nucleotide Polymorphisms (2008) (0)
Clinical profile of an Alzheimer´s disease cohort in the Peruvian population (2021) (0)
Transcriptomic Analysis of Whole Blood in Admixed Latinx Alzheimer Disease Cohorts (2022) (0)
Growth Factor 20 Polymorphisms and Haplotypes Strongly Influence Risk of Parkinson Disease (2004) (0)
The Alzheimer’s Disease Sequencing Project Follow Up Study (ADSP‐FUS): increasing ethnic diversity in Alzheimer’s disease (AD) genetics research. (2022) (0)
Astrocyte specific chromatin accessibility differences in European vs African Alzheimer Disease brains (2022) (0)
Expression of Genes and ESTs within the HBID Duplication Region in Human Conjunctival Cell Lines and Tissue (2004) (0)
ADSP follow‐up study: NCRAD biospecimens (2021) (0)

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