Myotilin is mutated in limb girdle muscular dystrophy 1A MA Hauser, SK Horrigan, P Salmikangas, UM Torian, KD Viles, R Dancel, ... Human molecular genetics 9 (14), 2141-2147, 2000 | 360 | 2000 |
Genetic studies of autistic disorder and chromosome 7 A Ashley-Koch, CM Wolpert, MM Menold, L Zaeem, S Basu, SL Donnelly, ... Genomics 61 (3), 227-236, 1999 | 259 | 1999 |
Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy HM McLaughlin, R Sakaguchi, C Liu, T Igarashi, D Pehlivan, K Chu, ... The American Journal of Human Genetics 87 (4), 560-566, 2010 | 227 | 2010 |
Genetic studies in neural tube defects EC Melvin, TM George, G Worley, A Franklin, J Mackey, K Viles, N Shah, ... Pediatric neurosurgery 32 (1), 1-9, 2000 | 112 | 2000 |
Report of the Second International Workshop on Human Chromosome 1 Mapping 1995: Held on 22–24 September 1995 at the Research Institute of Molecular Pathology Vienna, Austria A Weith, J Vance Cytogenetic and Genome Research 72 (2-3), 113-154, 1996 | 97 | 1996 |
Global and local ancestry in African‐Americans: implications for Alzheimer's disease risk TJ Hohman, JN Cooke‐Bailey, C Reitz, G Jun, A Naj, GW Beecham, Z Liu, ... Alzheimer's & Dementia 12 (3), 233-243, 2016 | 44 | 2016 |
Hereditary motor and sensory neuropathy type VI with optic atrophy I Voo, BE Allf, N Udar, R Silva-Garcia, J Vance, KW Small American journal of ophthalmology 136 (4), 670-677, 2003 | 40 | 2003 |
Tyrosine hydroxylase gene: another piece of the genetic puzzle of Parkinson's disease G Bademci, J M Vance, L Wang CNS & Neurological Disorders-Drug Targets (Formerly Current Drug Targets-CNS …, 2012 | 36 | 2012 |
Polymorphic variants in tenascin-C (TNC) are associated with atherosclerosis and coronary artery disease MA Minear, DR Crosslin, BS Sutton, JJ Connelly, SC Nelson, ... Human genetics 129, 641-654, 2011 | 31 | 2011 |
Genome-wide linkage analyses of non-Hispanic white families identify novel loci for familial late-onset Alzheimer's disease BW Kunkle, J Jaworski, S Barral, B Vardarajan, GW Beecham, ER Martin, ... Alzheimer's & Dementia 12 (1), 2-10, 2016 | 29 | 2016 |
Isolation of genomic DNA from mammalian cells JR Gilbert, JM Vance Current protocols in human genetics 19 (1), A. 3B. 1-A. 3B. 6, 1998 | 29 | 1998 |
Methods of screening for parkinsons's disease J Vance, M Pericak-Vance, W Scott, J Stajich US Patent App. 10/296,096, 2004 | 16 | 2004 |
Confirmation of linkage of oculopharyngel muscular dystrophy to chromosome 14q 11.2‐q13 JM Stajich, F Lennon, A Lee, L Yamaoka, B Helms, PC Gaskell, AD Roses, ... Annals of Neurology: Official Journal of the American Neurological …, 1996 | 16 | 1996 |
Glutamate Receptor Gene GRIN2A, Coffee, and Parkinson Disease TH Hamza, EM Hill-Burns, WK Scott, JM Vance, SA Factor, CP Zabetian, ... PLoS genetics 10 (11), e1004774, 2014 | 15 | 2014 |
Ocular motility in North Carolina autosomal dominant ataxia KW Small, SC Pollock, JM Vance, JM Stajich, M Pericak-Vance Journal of neuro-ophthalmology 16 (2), 91-95, 1996 | 15 | 1996 |
North Carolina macular dystrophy: exclusion map using RFLPs and microsatellites KW Small, JL Weber, WY Hung, J Vance, A Roses, M Pericak-Vance Genomics 11 (3), 763-766, 1991 | 13 | 1991 |
The isolation of a yeast artificial chromosome (YAC) contig extending for 2 megabases in the vicinity of the von Hippel Lindau disease gene W Liu, M Plechockl, V Shridhar, G Lyles, Z Song, Y Nakamura, H Drabkin, ... Human molecular genetics 2 (8), 1177-1182, 1993 | 8 | 1993 |
Admixture mapping identifies novel Alzheimer's disease risk regions in African Americans F Rajabli, G Tosto, KL Hamilton‐Nelson, BW Kunkle, BN Vardarajan, ... Alzheimer's & dementia 19 (6), 2538-2548, 2023 | 5 | 2023 |
Generation of disease-specific autopsy-confirmed iPSCs lines from postmortem isolated Peripheral Blood Mononuclear Cells K Belle, FS Shabazz, K Nuytemans, DA Davis, A Ali, JL Young, WK Scott, ... Neuroscience letters 637, 201-206, 2017 | 5 | 2017 |
cA479 (D3S719): a cosmid mapped telomeric of the Von Hippel Lindau disease gene contains the D3S18 locus W Liu, J Vance, DI Smith Human molecular genetics 1 (3), 201-201, 1992 | 5 | 1992 |