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Ann Singleton - Publications

Affiliations: 
Educational Leadership Union University, Jackson, TN, United States 
Area:
Reading Education, Secondary Education
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Year Citation  Score
2020 Orme T, Hernandez D, Ross OA, Kun-Rodrigues C, Darwent L, Shepherd CE, Parkkinen L, Ansorge O, Clark L, Honig LS, Marder K, Lemstra A, Rogaeva E, St George-Hyslop P, Londos E, ... ... Singleton A, et al. Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies. Acta Neuropathologica Communications. 8: 5. PMID 31996268 DOI: 10.1186/S40478-020-0879-Z  0.312
2019 Blauwendraat C, Reed X, Krohn L, Heilbron K, Bandres-Ciga S, Tan M, Gibbs JR, Hernandez DG, Kumaran R, Langston R, Bonet-Ponce L, Alcalay RN, Hassin-Baer S, Greenbaum L, Iwaki H, ... ... Singleton AB, et al. Genetic modifiers of risk and age at onset in GBA associated Parkinson's disease and Lewy body dementia. Brain : a Journal of Neurology. PMID 31755958 DOI: 10.1093/Brain/Awz350  0.321
2019 Blauwendraat C, Nalls MA, Singleton AB. The genetic architecture of Parkinson's disease. The Lancet. Neurology. PMID 31521533 DOI: 10.1016/S1474-4422(19)30287-X  0.324
2017 Jansen IE, Gibbs JR, Nalls MA, Price TR, Lubbe S, van Rooij J, Uitterlinden AG, Kraaij R, Williams NM, Brice A, Hardy J, Wood NW, Morris HR, Gasser T, Singleton AB, et al. Establishing the role of rare coding variants in known Parkinson's disease risk loci. Neurobiology of Aging. PMID 28867149 DOI: 10.1016/J.Neurobiolaging.2017.07.009  0.311
2016 Hernandez DG, Reed X, Singleton AB. Genetics in Parkinson disease: Mendelian versus non-Mendelian inheritance. Journal of Neurochemistry. PMID 27090875 DOI: 10.1111/jnc.13593  0.307
2015 Federoff M, Schottlaender LV, Houlden H, Singleton A. Multiple system atrophy: the application of genetics in understanding etiology. Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society. 25: 19-36. PMID 25687905 DOI: 10.1007/S10286-014-0267-5  0.33
2014 Bras J, Guerreiro R, Darwent L, Parkkinen L, Ansorge O, Escott-Price V, Hernandez DG, Nalls MA, Clark LN, Honig LS, Marder K, Van Der Flier WM, Lemstra A, Scheltens P, Rogaeva E, ... ... Singleton A, et al. Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies. Human Molecular Genetics. 23: 6139-46. PMID 24973356 DOI: 10.1093/Hmg/Ddu334  0.3
2012 Hernandez DG, Nalls MA, Ylikotila P, Keller M, Hardy JA, Majamaa K, Singleton AB. Genome wide assessment of young onset Parkinson's disease from Finland. Plos One. 7: e41859. PMID 22911860 DOI: 10.1371/Journal.Pone.0041859  0.3
2012 Houlden H, Singleton AB. The genetics and neuropathology of Parkinson's disease. Acta Neuropathologica. 124: 325-38. PMID 22806825 DOI: 10.1007/s00401-012-1013-5  0.301
2012 Simón-Sánchez J, Kilarski LL, Nalls MA, Martinez M, Schulte C, Holmans P, Gasser T, Hardy J, Singleton AB, Wood NW, Brice A, Heutink P, Williams N, et al. Cooperative genome-wide analysis shows increased homozygosity in early onset Parkinson's disease. Plos One. 7: e28787. PMID 22427796 DOI: 10.1371/Journal.Pone.0028787  0.313
2012 Gerrish A, Russo G, Richards A, Moskvina V, Ivanov D, Harold D, Sims R, Abraham R, Hollingworth P, Chapman J, Hamshere M, Pahwa JS, Dowzell K, Williams A, Jones N, ... ... Singleton AB, et al. The role of variation at AβPP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's disease. Journal of Alzheimer's Disease : Jad. 28: 377-87. PMID 22027014 DOI: 10.3233/Jad-2011-110824  0.307
2011 Brooks JA, Houlden H, Melchers A, Islam AJ, Ding J, Li A, Paudel R, Revesz T, Holton JL, Wood N, Lees A, Singleton AB, Scholz SW. Mutational analysis of parkin and PINK1 in multiple system atrophy. Neurobiology of Aging. 32: 548.e5-7. PMID 20034704 DOI: 10.1016/j.neurobiolaging.2009.11.020  0.302
2010 Tucci A, Nalls MA, Houlden H, Revesz T, Singleton AB, Wood NW, Hardy J, Paisán-Ruiz C. Genetic variability at the PARK16 locus. European Journal of Human Genetics : Ejhg. 18: 1356-9. PMID 20683486 DOI: 10.1038/Ejhg.2010.125  0.302
2006 Fung HC, Scholz S, Matarin M, Simón-Sánchez J, Hernandez D, Britton A, Gibbs JR, Langefeld C, Stiegert ML, Schymick J, Okun MS, Mandel RJ, Fernandez HH, Foote KD, Rodríguez RL, ... ... Singleton A, et al. Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data. The Lancet. Neurology. 5: 911-6. PMID 17052657 DOI: 10.1016/S1474-4422(06)70578-6  0.302
2005 Cookson MR, Xiromerisiou G, Singleton A. How genetics research in Parkinson's disease is enhancing understanding of the common idiopathic forms of the disease. Current Opinion in Neurology. 18: 706-11. PMID 16280683 DOI: 10.1097/01.Wco.0000186841.43505.E6  0.314
Low-probability matches (unlikely to be authored by this person)
2009 Bras JM, Singleton A. Genetic susceptibility in Parkinson's disease. Biochimica Et Biophysica Acta. 1792: 597-603. PMID 19063963 DOI: 10.1016/J.Bbadis.2008.11.008  0.299
2015 Nalls MA, Keller MF, Hernandez DG, Chen L, Stone DJ, Singleton AB. Baseline genetic associations in the Parkinson's Progression Markers Initiative (PPMI). Movement Disorders : Official Journal of the Movement Disorder Society. PMID 26268663 DOI: 10.1002/Mds.26374  0.299
2019 Iwaki H, Blauwendraat C, Leonard HL, Kim JJ, Liu G, Maple-Grødem J, Corvol JC, Pihlstrøm L, van Nimwegen M, Hutten SJ, Nguyen KH, Rick J, Eberly S, Faghri F, Auinger P, ... ... Singleton AB, et al. Genomewide association study of Parkinson's disease clinical biomarkers in 12 longitudinal patients' cohorts. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 31505070 DOI: 10.1002/Mds.27845  0.299
2011 Devine MJ, Gwinn K, Singleton A, Hardy J. Parkinson's disease and α-synuclein expression. Movement Disorders : Official Journal of the Movement Disorder Society. 26: 2160-8. PMID 21887711 DOI: 10.1002/Mds.23948  0.298
2020 Brown EE, Blauwendraat C, Trinh J, Rizig M, Nalls MA, Leveille E, Ruskey JA, Jonvik H, Tan MMX, Bandres-Ciga S, Hassin-Baer S, Brockmann K, Infante J, Tolosa E, Ezquerra M, ... ... Singleton AB, et al. Analysis of DNM3 and VAMP4 as genetic modifiers of LRRK2 Parkinson's disease. Neurobiology of Aging. PMID 32873436 DOI: 10.1016/J.Neurobiolaging.2020.07.002  0.298
2013 Singleton AB, Farrer MJ, Bonifati V. The genetics of Parkinson's disease: progress and therapeutic implications. Movement Disorders : Official Journal of the Movement Disorder Society. 28: 14-23. PMID 23389780 DOI: 10.1002/mds.25249  0.297
2012 Majounie E, Traynor BJ, Chiò A, Restagno G, Mandrioli J, Benatar M, Taylor JP, Singleton AB. Mutational analysis of the VCP gene in Parkinson's disease. Neurobiology of Aging. 33: 209.e1-2. PMID 21920633 DOI: 10.1016/J.Neurobiolaging.2011.07.011  0.297
2020 Krohn L, Grenn FP, Makarious MB, Kim JJ, Bandres-Ciga S, Roosen DA, Gan-Or Z, Nalls MA, Singleton AB, Blauwendraat C. Comprehensive assessment of PINK1 variants in Parkinson's disease. Neurobiology of Aging. PMID 32249012 DOI: 10.1016/J.Neurobiolaging.2020.03.003  0.297
2008 Paisán-Ruíz C, Nath P, Washecka N, Gibbs JR, Singleton AB. Comprehensive analysis of LRRK2 in publicly available Parkinson's disease cases and neurologically normal controls. Human Mutation. 29: 485-90. PMID 18213618 DOI: 10.1002/humu.20668  0.296
2020 Blauwendraat C, Makarious MB, Leonard HL, Bandres-Ciga S, Iwaki H, Nalls MA, Noyce AJ, Singleton AB. A population scale analysis of rare SNCA variation in the UK Biobank. Neurobiology of Disease. 105182. PMID 33307186 DOI: 10.1016/j.nbd.2020.105182  0.295
2017 Siitonen A, Nalls MA, Hernández D, Gibbs JR, Ding J, Ylikotila P, Edsall C, Singleton A, Majamaa K. Genetics of early-onset Parkinson's disease in Finland: exome sequencing and genome-wide association study. Neurobiology of Aging. PMID 28256260 DOI: 10.1016/J.Neurobiolaging.2017.01.019  0.295
2015 Kun-Rodrigues C, Ganos C, Guerreiro R, Schneider SA, Schulte C, Lesage S, Darwent L, Holmans P, Singleton A, Bhatia K, Bras J. A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease. Human Molecular Genetics. PMID 26362251 DOI: 10.1093/Hmg/Ddv376  0.294
2003 Morris CM, O'Brien KK, Gibson AM, Hardy JA, Singleton AB. Polymorphism in the human DJ-1 gene is not associated with sporadic dementia with Lewy bodies or Parkinson's disease. Neuroscience Letters. 352: 151-3. PMID 14625045 DOI: 10.1016/j.neulet.2003.08.037  0.294
2004 Clark LN, Afridi S, Mejia-Santana H, Harris J, Louis ED, Cote LJ, Andrews H, Singleton A, Wavrant De-Vrieze F, Hardy J, Mayeux R, Fahn S, Waters C, Ford B, Frucht S, et al. Analysis of an early-onset Parkinson's disease cohort for DJ-1 mutations. Movement Disorders : Official Journal of the Movement Disorder Society. 19: 796-800. PMID 15254937 DOI: 10.1002/Mds.20131  0.293
2012 Lill CM, Roehr JT, McQueen MB, Kavvoura FK, Bagade S, Schjeide BM, Schjeide LM, Meissner E, Zauft U, Allen NC, Liu T, Schilling M, Anderson KJ, Beecham G, Berg D, ... ... Singleton AB, et al. Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database. Plos Genetics. 8: e1002548. PMID 22438815 DOI: 10.1371/Journal.Pgen.1002548  0.291
2016 Lubbe SJ, Escott-Price V, Gibbs JR, Nalls MA, Bras J, Price TR, Nicolas A, Jansen IE, Mok KY, Pittman AM, Tomkins JE, Lewis PA, Noyce AJ, Lesage S, Sharma M, ... ... Singleton AB, et al. Additional Rare Variant Analysis in Parkinson's Disease Cases with and Without Known Pathogenic Mutations: Evidence for Oligogenic Inheritance. Human Molecular Genetics. PMID 27798102 DOI: 10.1093/Hmg/Ddw348  0.29
2020 Tan MMX, Lawton MA, Jabbari E, Reynolds RH, Iwaki H, Blauwendraat C, Kanavou S, Pollard MI, Hubbard L, Malek N, Grosset KA, Marrinan SL, Bajaj N, Barker RA, Burn DJ, ... ... Singleton AB, et al. Genome-Wide Association Studies of Cognitive and Motor Progression in Parkinson's Disease. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 33111402 DOI: 10.1002/mds.28342  0.29
2013 Paisán-Ruiz C, Lewis PA, Singleton AB. LRRK2: cause, risk, and mechanism. Journal of Parkinson's Disease. 3: 85-103. PMID 23938341 DOI: 10.3233/JPD-130192  0.289
2020 Lesage S, Houot M, Mangone G, Tesson C, Bertrand H, Forlani S, Anheim M, Brefel-Courbon C, Broussolle E, Thobois S, Damier P, Durif F, Roze E, Tison F, Grabli D, ... ... Singleton A, et al. Genetic and Phenotypic Basis of Autosomal Dominant Parkinson's Disease in a Large Multi-Center Cohort. Frontiers in Neurology. 11: 682. PMID 32849182 DOI: 10.3389/Fneur.2020.00682  0.289
2011 Nalls MA, Plagnol V, Hernandez DG, Sharma M, Sheerin UM, Saad M, Simón-Sánchez J, Schulte C, Lesage S, Sveinbjörnsdóttir S, Stefánsson K, Martinez M, Hardy J, Heutink P, ... ... Singleton AB, et al. Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. Lancet. 377: 641-9. PMID 21292315 DOI: 10.1016/S0140-6736(10)62345-8  0.287
2021 Chia R, Sabir MS, Bandres-Ciga S, Saez-Atienzar S, Reynolds RH, Gustavsson E, Walton RL, Ahmed S, Viollet C, Ding J, Makarious MB, Diez-Fairen M, Portley MK, Shah Z, Abramzon Y, ... ... Singleton AB, et al. Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture. Nature Genetics. PMID 33589841 DOI: 10.1038/s41588-021-00785-3  0.287
2009 Simón-Sánchez J, Schulte C, Bras JM, Sharma M, Gibbs JR, Berg D, Paisan-Ruiz C, Lichtner P, Scholz SW, Hernandez DG, Krüger R, Federoff M, Klein C, Goate A, Perlmutter J, ... ... Singleton AB, et al. Genome-wide association study reveals genetic risk underlying Parkinson's disease. Nature Genetics. 41: 1308-12. PMID 19915575 DOI: 10.1038/Ng.487  0.286
2019 Singleton A, Hardy J. Progress in the Genetic Analysis of Parkinson's Disease. Human Molecular Genetics. PMID 31518392 DOI: 10.1093/Hmg/Ddz183  0.286
2005 Buervenich S, Carmine A, Galter D, Shahabi HN, Johnels B, Holmberg B, Ahlberg J, Nissbrandt H, Eerola J, Hellström O, Tienari PJ, Matsuura T, Ashizawa T, Wüllner U, Klockgether T, ... ... Singleton A, et al. A rare truncating mutation in ADH1C (G78Stop) shows significant association with Parkinson disease in a large international sample. Archives of Neurology. 62: 74-8. PMID 15642852 DOI: 10.1001/Archneur.62.1.74  0.285
2016 Kara E, Tucci A, Manzoni C, Lynch DS, Elpidorou M, Bettencourt C, Chelban V, Manole A, Hamed SA, Haridy NA, Federoff M, Preza E, Hughes D, Pittman A, Jaunmuktane Z, ... ... Singleton AB, et al. Genetic and phenotypic characterization of complex hereditary spastic paraplegia. Brain : a Journal of Neurology. PMID 27217339 DOI: 10.1093/Brain/Aww111  0.284
2004 Singleton A. What does PINK1 mean for Parkinson diseases? Neurology. 63: 1350-1351. PMID 15505146 DOI: 10.1212/01.Wnl.0000144272.53634.49  0.284
2021 Xiromerisiou G, Bourinaris T, Houlden H, Lewis PA, Senkevich K, Hammer M, Federoff M, Khan A, Spanaki C, Hadjigeorgiou GM, Bonstanjopoulou S, Fidani L, Ermolaev A, Gan-Or Z, Singleton A, et al. SORL1 mutation in a Greek family with Parkinson's disease and dementia. Annals of Clinical and Translational Neurology. PMID 34506082 DOI: 10.1002/acn3.51433  0.283
2014 Nalls MA, Saad M, Noyce AJ, Keller MF, Schrag A, Bestwick JP, Traynor BJ, Gibbs JR, Hernandez DG, Cookson MR, Morris HR, Williams N, Gasser T, Heutink P, Wood N, ... ... Singleton AB, et al. Genetic comorbidities in Parkinson's disease. Human Molecular Genetics. 23: 831-41. PMID 24057672 DOI: 10.1093/Hmg/Ddt465  0.283
2010 Jain S, Singleton AB. Genetics and Genomics of Parkinson's Disease Essentials of Genomic and Personalized Medicine. 700-711. DOI: 10.1016/B978-0-12-374934-5.00054-4  0.283
2019 Blauwendraat C, Heilbron K, Vallerga CL, Bandres-Ciga S, von Coelln R, Pihlstrøm L, Simón-Sánchez J, Schulte C, Sharma M, Krohn L, Siitonen A, Iwaki H, Leonard H, Noyce AJ, Tan M, ... ... Singleton AB, et al. Parkinson's disease age at onset genome-wide association study: Defining heritability, genetic loci, and α-synuclein mechanisms. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 30957308 DOI: 10.1002/Mds.27659  0.282
2019 Guerreiro R, Escott-Price V, Hernandez DG, Kun-Rodrigues C, Ross OA, Orme T, Neto JL, Carmona S, Dehghani N, Eicher JD, Shepherd C, Parkkinen L, Darwent L, Heckman MG, Scholz SW, ... ... Singleton A, et al. Heritability and genetic variance of dementia with Lewy bodies. Neurobiology of Disease. PMID 30953760 DOI: 10.1016/J.Nbd.2019.04.004  0.282
2021 Lake J, Reed X, Langston RG, Nalls MA, Gan-Or Z, Cookson MR, Singleton AB, Blauwendraat C, Leonard HL. Coding and Noncoding Variation in LRRK2 and Parkinson's Disease Risk. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 34542912 DOI: 10.1002/mds.28787  0.282
2008 Singleton A, Morris H. Association, expression, pathobiology: is too much tau in PD a blueprint for genetic association? Neurology. 71: 11-2. PMID 18591501 DOI: 10.1212/01.Wnl.0000316388.84840.1F  0.282
2013 Guerreiro R, Wojtas A, Bras J, Carrasquillo M, Rogaeva E, Majounie E, Cruchaga C, Sassi C, Kauwe JS, Younkin S, Hazrati L, Collinge J, Pocock J, Lashley T, Williams J, ... ... Singleton A, et al. TREM2 variants in Alzheimer's disease. The New England Journal of Medicine. 368: 117-27. PMID 23150934 DOI: 10.1056/Nejmoa1211851  0.282
2013 Holmans P, Moskvina V, Jones L, Sharma M, Vedernikov A, Buchel F, Saad M, Sadd M, Bras JM, Bettella F, Nicolaou N, Simón-Sánchez J, Mittag F, Gibbs JR, ... ... Singleton AB, et al. A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease. Human Molecular Genetics. 22: 1039-49. PMID 23223016 DOI: 10.1093/Hmg/Dds492  0.281
2018 Billingsley KJ, Bandres-Ciga S, Saez-Atienzar S, Singleton AB. Genetic risk factors in Parkinson's disease. Cell and Tissue Research. 373: 9-20. PMID 29536161 DOI: 10.1007/s00441-018-2817-y  0.28
2012 Keller MF, Saad M, Bras J, Bettella F, Nicolaou N, Simón-Sánchez J, Mittag F, Büchel F, Sharma M, Gibbs JR, Schulte C, Moskvina V, Durr A, Holmans P, Kilarski LL, ... ... Singleton AB, et al. Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease. Human Molecular Genetics. 21: 4996-5009. PMID 22892372 DOI: 10.1093/Hmg/Dds335  0.28
2017 Ylönen S, Siitonen A, Nalls MA, Ylikotila P, Autere J, Eerola-Rautio J, Gibbs R, Hiltunen M, Tienari PJ, Soininen H, Singleton AB, Majamaa K. Genetic risk factors in Finnish patients with Parkinson's disease. Parkinsonism & Related Disorders. PMID 29029963 DOI: 10.1016/J.Parkreldis.2017.09.021  0.28
2008 Xiromerisiou G, Hadjigeorgiou GM, Papadimitriou A, Katsarogiannis E, Gourbali V, Singleton AB. Association between AKT1 gene and Parkinson's disease: a protective haplotype. Neuroscience Letters. 436: 232-4. PMID 18395980 DOI: 10.1016/j.neulet.2008.03.026  0.279
2019 Nalls MA, Blauwendraat C, Vallerga CL, Heilbron K, Bandres-Ciga S, Chang D, Tan M, Kia DA, Noyce AJ, Xue A, Bras J, Young E, von Coelln R, Simón-Sánchez J, Schulte C, ... ... Singleton AB, et al. Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies. The Lancet. Neurology. 18: 1091-1102. PMID 31701892 DOI: 10.1016/S1474-4422(19)30320-5  0.279
2006 Guerreiro RJ, Bras JM, Santana I, Januario C, Santiago B, Morgadinho AS, Ribeiro MH, Hardy J, Singleton A, Oliveira C. Association of HFE common mutations with Parkinson's disease, Alzheimer's disease and mild cognitive impairment in a Portuguese cohort. Bmc Neurology. 6: 24. PMID 16824219 DOI: 10.1186/1471-2377-6-24  0.279
2014 Kara E, Xiromerisiou G, Spanaki C, Bozi M, Koutsis G, Panas M, Dardiotis E, Ralli S, Bras J, Letson C, Edsall C, Pliner H, Arepalli S, Kalinderi K, Fidani L, ... ... Singleton AB, et al. Assessment of Parkinson's disease risk loci in Greece. Neurobiology of Aging. 35: 442.e9-442.e16. PMID 24080174 DOI: 10.1016/J.Neurobiolaging.2013.07.011  0.279
2001 Farrer M, Chan P, Chen R, Tan L, Lincoln S, Hernandez D, Forno L, Gwinn-Hardy K, Petrucelli L, Hussey J, Singleton A, Tanner C, Hardy J, Langston JW. Lewy bodies and parkinsonism in families with parkin mutations. Annals of Neurology. 50: 293-300. PMID 11558785 DOI: 10.1002/Ana.1132  0.279
2007 Xiromerisiou G, Hadjigeorgiou GM, Eerola J, Fernandez HH, Tsimourtou V, Mandel R, Hellström O, Gwinn-Hardy K, Okun MS, Tienari PJ, Singleton AB. BDNF tagging polymorphisms and haplotype analysis in sporadic Parkinson's disease in diverse ethnic groups. Neuroscience Letters. 415: 59-63. PMID 17229524 DOI: 10.1016/J.Neulet.2006.12.038  0.278
2015 Nalls MA, Escott-Price V, Williams NM, Lubbe S, Keller MF, Morris HR, Singleton AB. Genetic risk and age in Parkinson's disease: Continuum not stratum. Movement Disorders : Official Journal of the Movement Disorder Society. 30: 850-4. PMID 25778492 DOI: 10.1002/Mds.26192  0.277
2021 Kim JJ, Makarious MB, Bandres-Ciga S, Gibbs JR, Ding J, Hernandez DG, Brooks J, Grenn FP, Iwaki H, Singleton AB, Nalls MA, Blauwendraat C. The Parkinson's Disease DNA Variant Browser. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 33497488 DOI: 10.1002/mds.28488  0.277
2010 Singleton AB, Hardy J, Traynor BJ, Houlden H. Towards a complete resolution of the genetic architecture of disease. Trends in Genetics : Tig. 26: 438-42. PMID 20813421 DOI: 10.1016/J.Tig.2010.07.004  0.276
2008 Camargos S, Scholz S, Simón-Sánchez J, Paisán-Ruiz C, Lewis P, Hernandez D, Ding J, Gibbs JR, Cookson MR, Bras J, Guerreiro R, Oliveira CR, Lees A, Hardy J, Cardoso F, ... Singleton AB, et al. DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA. The Lancet. Neurology. 7: 207-15. PMID 18243799 DOI: 10.1016/S1474-4422(08)70022-X  0.275
2005 Singleton AB. Altered α-synuclein homeostasis causing Parkinson's disease: The potential roles of dardarin Trends in Neurosciences. 28: 416-421. PMID 15955578 DOI: 10.1016/j.tins.2005.05.009  0.275
2014 Mencacci NE, Isaias IU, Reich MM, Ganos C, Plagnol V, Polke JM, Bras J, Hersheson J, Stamelou M, Pittman AM, Noyce AJ, Mok KY, Opladen T, Kunstmann E, Hodecker S, ... ... Singleton A, et al. Parkinson's disease in GTP cyclohydrolase 1 mutation carriers. Brain : a Journal of Neurology. 137: 2480-92. PMID 24993959 DOI: 10.1093/Brain/Awu179  0.275
2008 Simon-Sanchez J, Scholz S, Matarin Mdel M, Fung HC, Hernandez D, Gibbs JR, Britton A, Hardy J, Singleton A. Genomewide SNP assay reveals mutations underlying Parkinson disease. Human Mutation. 29: 315-22. PMID 17994548 DOI: 10.1002/Humu.20626  0.274
2004 Singleton A, Myers A, Hardy J. The law of mass action applied to neurodegenerative disease: A hypothesis concerning the etiology and pathogenesis of complex diseases Human Molecular Genetics. 13: R123-R126. PMID 14976159 DOI: 10.1093/Hmg/Ddh093  0.274
2021 Blauwendraat C, Iwaki H, Makarious MB, Bandres-Ciga S, Leonard H, Grenn FP, Lake J, Krohn L, Tan M, Kim JJ, Gibbs JR, Hernandez DG, Ruskey JA, Pihlstrøm L, Toft M, ... Singleton AB, ... Singleton AB, et al. Investigation of Autosomal Genetic Sex Differences in Parkinson's disease. Annals of Neurology. PMID 33901317 DOI: 10.1002/ana.26090  0.274
2009 Neumann J, Bras J, Deas E, O'Sullivan SS, Parkkinen L, Lachmann RH, Li A, Holton J, Guerreiro R, Paudel R, Segarane B, Singleton A, Lees A, Hardy J, Houlden H, et al. Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. Brain : a Journal of Neurology. 132: 1783-94. PMID 19286695 DOI: 10.1093/Brain/Awp044  0.274
2017 Witoelar A, Jansen IE, Wang Y, Desikan RS, Gibbs JR, Blauwendraat C, Thompson WK, Hernandez DG, Djurovic S, Schork AJ, Bettella F, Ellinghaus D, Franke A, Lie BA, McEvoy LK, ... ... Singleton AB, et al. Genome-wide Pleiotropy Between Parkinson Disease and Autoimmune Diseases. Jama Neurology. PMID 28586827 DOI: 10.1001/Jamaneurol.2017.0469  0.273
2019 Iwaki H, Blauwendraat C, Leonard HL, Liu G, Maple-Grødem J, Corvol JC, Pihlstrøm L, van Nimwegen M, Hutten SJ, Nguyen KH, Rick J, Eberly S, Faghri F, Auinger P, Scott KM, ... Singleton AB, et al. Genetic risk of Parkinson disease and progression:: An analysis of 13 longitudinal cohorts. Neurology. Genetics. 5: e348. PMID 31404238 DOI: 10.1212/Nxg.0000000000000348  0.273
2016 Bandrés-Ciga S, Price TR, Barrero FJ, Escamilla-Sevilla F, Pelegrina J, Arepalli S, Hernández D, Gutiérrez B, Cervilla J, Rivera M, Rivera A, Ding JH, Vives F, Nalls M, Singleton A, et al. Genome-wide assessment of Parkinson's disease in a Southern Spanish population. Neurobiology of Aging. PMID 27393345 DOI: 10.1016/J.Neurobiolaging.2016.06.001  0.272
2020 Grenn FP, Kim JJ, Makarious MB, Iwaki H, Illarionova A, Brolin K, Kluss JH, Schumacher-Schuh AF, Leonard H, Faghri F, Billingsley K, Krohn L, Hall A, Diez-Fairen M, Periñán MT, ... ... Singleton AB, et al. The Parkinson's Disease Genome-Wide Association Study Locus Browser. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 32864809 DOI: 10.1002/Mds.28197  0.272
2021 Lesage S, Mangone G, Tesson C, Bertrand H, Benmahdjoub M, Kesraoui S, Arezki M, Singleton A, Corvol JC, Brice A. Clinical Variability of -Associated Early-Onset Parkinsonism. Frontiers in Neurology. 12: 648457. PMID 33841314 DOI: 10.3389/fneur.2021.648457  0.271
2015 Guerreiro R, Escott-Price V, Darwent L, Parkkinen L, Ansorge O, Hernandez DG, Nalls MA, Clark L, Honig L, Marder K, van der Flier W, Holstege H, Louwersheimer E, Lemstra A, Scheltens P, ... ... Singleton A, et al. Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson's and Alzheimer's diseases. Neurobiology of Aging. PMID 26643944 DOI: 10.1016/J.Neurobiolaging.2015.10.028  0.271
2017 Blauwendraat C, Faghri F, Pihlstrom L, Geiger JT, Elbaz A, Lesage S, Corvol JC, May P, Nicolas A, Abramzon Y, Murphy NA, Gibbs JR, Ryten M, Ferrari R, Bras J, ... ... Singleton AB, et al. NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases. Neurobiology of Aging. PMID 28602509 DOI: 10.1016/J.Neurobiolaging.2017.05.009  0.271
2011 Singleton A, Hardy J. A generalizable hypothesis for the genetic architecture of disease: pleomorphic risk loci. Human Molecular Genetics. 20: R158-62. PMID 21875901 DOI: 10.1093/Hmg/Ddr358  0.271
2005 Khan NL, Jain S, Lynch JM, Pavese N, Abou-Sleiman P, Holton JL, Healy DG, Gilks WP, Sweeney MG, Ganguly M, Gibbons V, Gandhi S, Vaughan J, Eunson LH, Katzenschlager R, ... ... Singleton AB, et al. Mutations in the gene LRRK2 encoding dardarin (PARK8) cause familial Parkinson's disease: clinical, pathological, olfactory and functional imaging and genetic data. Brain : a Journal of Neurology. 128: 2786-96. PMID 16272164 DOI: 10.1093/Brain/Awh667  0.27
2014 Nalls MA, Pankratz N, Lill CM, Do CB, Hernandez DG, Saad M, DeStefano AL, Kara E, Bras J, Sharma M, Schulte C, Keller MF, Arepalli S, Letson C, Edsall C, ... ... Singleton AB, et al. Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease. Nature Genetics. 46: 989-93. PMID 25064009 DOI: 10.1038/Ng.3043  0.27
2008 Simón-Sánchez J, Singleton AB. Sequencing analysis of OMI/HTRA2 shows previously reported pathogenic mutations in neurologically normal controls. Human Molecular Genetics. 17: 1988-93. PMID 18364387 DOI: 10.1093/hmg/ddn096  0.27
2004 Rogaeva E, Johnson J, Lang AE, Gulick C, Gwinn-Hardy K, Kawarai T, Sato C, Morgan A, Werner J, Nussbaum R, Petit A, Okun MS, McInerney A, Mandel R, Groen JL, ... ... Singleton AB, et al. Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease. Archives of Neurology. 61: 1898-904. PMID 15596610 DOI: 10.1001/Archneur.61.12.1898  0.269
2017 Chaudhury S, Patel T, Barber IS, Guetta-Baranes T, Brookes KJ, Chappell S, Turton J, Guerreiro R, Bras J, Hernandez D, Singleton A, Hardy J, Mann D, Morgan K. Polygenic risk score in postmortem diagnosed sporadic early-onset Alzheimer's disease. Neurobiology of Aging. PMID 29103623 DOI: 10.1016/J.Neurobiolaging.2017.09.035  0.269
2005 Clarimon J, Asgeirsson H, Singleton A, Jakobsson F, Hjaltason H, Hardy J, Sveinbjornsdottir S. Torsin A haplotype predisposes to idiopathic dystonia. Annals of Neurology. 57: 765-7. PMID 15852391 DOI: 10.1002/Ana.20485  0.269
2013 Moskvina V, Harold D, Russo G, Vedernikov A, Sharma M, Saad M, Holmans P, Bras JM, Bettella F, Keller MF, Nicolaou N, Simón-Sánchez J, Gibbs JR, Schulte C, Durr A, ... ... Singleton AB, et al. Analysis of genome-wide association studies of Alzheimer disease and of Parkinson disease to determine if these 2 diseases share a common genetic risk. Jama Neurology. 70: 1268-76. PMID 23921447 DOI: 10.1001/Jamaneurol.2013.448  0.269
2001 Maraganore DM, Hernandez DG, Singleton AB, Farrer MJ, McDonnell SK, Hutton ML, Hardy JA, Rocca WA. Case-Control study of the extended tau gene haplotype in Parkinson's disease. Annals of Neurology. 50: 658-61. PMID 11706972 DOI: 10.1002/ana.1228  0.268
2017 Chang D, Nalls MA, Hallgrímsdóttir IB, Hunkapiller J, van der Brug M, Cai F, Kerchner GA, Ayalon G, Bingol B, Sheng M, Hinds D, Behrens TW, Singleton AB, et al. A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci. Nature Genetics. PMID 28892059 DOI: 10.1038/Ng.3955  0.268
2012 Guerreiro RJ, Lohmann E, Kinsella E, Brás JM, Luu N, Gurunlian N, Dursun B, Bilgic B, Santana I, Hanagasi H, Gurvit H, Gibbs JR, Oliveira C, Emre M, Singleton A. Exome sequencing reveals an unexpected genetic cause of disease: NOTCH3 mutation in a Turkish family with Alzheimer's disease. Neurobiology of Aging. 33: 1008.e17-23. PMID 22153900 DOI: 10.1016/J.Neurobiolaging.2011.10.009  0.268
2003 Hardy J, Cookson MR, Singleton A. Genes and parkinsonism. The Lancet. Neurology. 2: 221-8. PMID 12849210 DOI: 10.1016/S1474-4422(03)00350-8  0.268
2001 Farrer M, Maraganore DM, Lockhart P, Singleton A, Lesnick TG, de Andrade M, West A, de Silva R, Hardy J, Hernandez D. alpha-Synuclein gene haplotypes are associated with Parkinson's disease. Human Molecular Genetics. 10: 1847-51. PMID 11532993 DOI: 10.1093/Hmg/10.17.1847  0.267
2021 Nalls MA, Blauwendraat C, Sargent L, Vitale D, Leonard H, Iwaki H, Song Y, Bandres-Ciga S, Menden K, Faghri F, Heutink P, Cookson MR, Singleton AB. Evidence for GRN connecting multiple neurodegenerative diseases Brain Communications. 3. DOI: 10.1093/BRAINCOMMS/FCAB095  0.267
2005 Hernandez D, Ruiz CP, Crawley A, Malkani R, Werner J, Gwinn-Hardy K, Dickson D, DeVrieze FW, Hardy J, Singleton A. The dardarin G2019S mutation is a common cause of Parkinson's disease but not other neurodegenerative diseases Neuroscience Letters. 389: 137-139. PMID 16102903 DOI: 10.1016/J.Neulet.2005.07.044  0.266
2004 Dogu O, Johnson J, Hernandez D, Hanson M, Hardy J, Apaydin H, Özekmekçi S, Sevim S, Gwinn-Hardy K, Singleton A. A consanguineous Turkish family with early-onset Parkinson's disease and an exon 4 parkin deletion. Movement Disorders : Official Journal of the Movement Disorder Society. 19: 812-816. PMID 15254940 DOI: 10.1002/Mds.20028  0.266
2018 Pihlstrøm L, Blauwendraat C, Cappelletti C, Berge-Seidl V, Langmyhr M, Henriksen SP, van de Berg WDJ, Gibbs JR, Cookson MR, Singleton AB, Nalls MA, Toft M. A comprehensive analysis of SNCA-related genetic risk in sporadic parkinson disease. Annals of Neurology. PMID 30146727 DOI: 10.1002/Ana.25274  0.265
2015 Singleton AB, Traynor BJ. Genetics. For complex disease genetics, collaboration drives progress. Science (New York, N.Y.). 347: 1422-3. PMID 25814571 DOI: 10.1126/Science.Aaa9838  0.265
2006 Clarimón J, Eerola J, Hellström O, Peuralinna T, Tienari PJ, Singleton AB. Assessment of PINK1 (PARK6) polymorphisms in Finnish PD Neurobiology of Aging. 27: 906-907. PMID 16046032 DOI: 10.1016/j.neurobiolaging.2005.03.028  0.265
2009 Camargos ST, Dornas LO, Momeni P, Lees A, Hardy J, Singleton A, Cardoso F. Familial Parkinsonism and early onset Parkinson's disease in a Brazilian movement disorders clinic: phenotypic characterization and frequency of SNCA, PRKN, PINK1, and LRRK2 mutations. Movement Disorders : Official Journal of the Movement Disorder Society. 24: 662-6. PMID 19205068 DOI: 10.1002/Mds.22365  0.264
2018 Blauwendraat C, Reed X, Kia DA, Gan-Or Z, Lesage S, Pihlstrøm L, Guerreiro R, Gibbs JR, Sabir M, Ahmed S, Ding J, Alcalay RN, Hassin-Baer S, Pittman AM, Brooks J, ... ... Singleton AB, et al. Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease. Jama Neurology. PMID 30039155 DOI: 10.1001/Jamaneurol.2018.1885  0.264
2006 Simón-Sánchez J, Martí-Massó JF, Sánchez-Mut JV, Paisán-Ruiz C, Martínez-Gil A, Ruiz-Martínez J, Sáenz A, Singleton AB, López de Munain A, Pérez-Tur J. Parkinson's disease due to the R1441G mutation in Dardarin: a founder effect in the Basques. Movement Disorders : Official Journal of the Movement Disorder Society. 21: 1954-9. PMID 16991141 DOI: 10.1002/Mds.21114  0.263
2010 Guerreiro RJ, Beck J, Gibbs JR, Santana I, Rossor MN, Schott JM, Nalls MA, Ribeiro H, Santiago B, Fox NC, Oliveira C, Collinge J, Mead S, Singleton A, Hardy J. Genetic variability in CLU and its association with Alzheimer's disease. Plos One. 5: e9510. PMID 20209083 DOI: 10.1371/Journal.Pone.0009510  0.263
2001 West AB, Zimprich A, Lockhart PJ, Farrer M, Singleton A, Holtom B, Lincoln S, Hofer A, Hill L, Müller-Myhsok B, Wszolek ZK, Hardy J, Gasser T. Refinement of the PARK3 locus on chromosome 2p13 and the analysis of 14 candidate genes. European Journal of Human Genetics : Ejhg. 9: 659-66. PMID 11571553 DOI: 10.1038/Sj.Ejhg.5200698  0.262
2014 Sassi C, Guerreiro R, Gibbs R, Ding J, Lupton MK, Troakes C, Al-Sarraj S, Niblock M, Gallo JM, Adnan J, Killick R, Brown KS, Medway C, Lord J, Turton J, ... ... Singleton A, et al. Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease. Neurobiology of Aging. 35: 2881.e1-6. PMID 25104557 DOI: 10.1016/J.Neurobiolaging.2014.06.002  0.262
2008 Okubadejo N, Britton A, Crews C, Akinyemi R, Hardy J, Singleton A, Bras J. Analysis of Nigerians with apparently sporadic Parkinson disease for mutations in LRRK2, PRKN and ATXN3. Plos One. 3: e3421. PMID 18927607 DOI: 10.1371/Journal.Pone.0003421  0.262
2004 Clarimon J, Eerola J, Hellström O, Tienari PJ, Singleton A. Paraoxonase 1 (PON1) gene polymorphisms and Parkinson's disease in a Finnish population Neuroscience Letters. 367: 168-170. PMID 15331145 DOI: 10.1016/J.Neulet.2004.05.108  0.262
2013 Nalls MA, Duran R, Lopez G, Kurzawa-Akanbi M, McKeith IG, Chinnery PF, Morris CM, Theuns J, Crosiers D, Cras P, Engelborghs S, De Deyn PP, Van Broeckhoven C, Mann DM, Snowden J, ... ... Singleton AB, et al. A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies. Jama Neurology. 70: 727-35. PMID 23588557 DOI: 10.1001/Jamaneurol.2013.1925  0.261
2004 Paisán-Ruíz C, Jain S, Evans EW, Gilks WP, Simón J, van der Brug M, López de Munain A, Aparicio S, Gil AM, Khan N, Johnson J, Martinez JR, Nicholl D, Carrera IM, Pena AS, ... ... Singleton AB, et al. Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease. Neuron. 44: 595-600. PMID 15541308 DOI: 10.1016/J.Neuron.2004.10.023  0.261
2005 Clarimon J, Xiromerisiou G, Eerola J, Gourbali V, Hellström O, Dardiotis E, Peuralinna T, Papadimitriou A, Hadjigeorgiou GM, Tienari PJ, Singleton AB. Lack of evidence for a genetic association between FGF20 and Parkinson's disease in Finnish and Greek patients. Bmc Neurology. 5: 11. PMID 15967032 DOI: 10.1186/1471-2377-5-11  0.261
2003 Hernandez D, Hanson M, Singleton A, Gwinn-Hardy K, Freeman J, Ravina B, Doheny D, Gallardo M, Weiser R, Hardy J, Singleton A. Mutation at the SCA17 locus is not a common cause of parkinsonism. Parkinsonism & Related Disorders. 9: 317-20. PMID 12853230 DOI: 10.1016/S1353-8020(03)00027-0  0.26
2015 Nalls MA, Bras J, Hernandez DG, Keller MF, Majounie E, Renton AE, Saad M, Jansen I, Guerreiro R, Lubbe S, Plagnol V, Gibbs JR, Schulte C, Pankratz N, Sutherland M, ... ... Singleton AB, et al. NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases. Neurobiology of Aging. 36: 1605.e7-12. PMID 25444595 DOI: 10.1016/J.Neurobiolaging.2014.07.028  0.26
2016 Barber IS, Braae A, Clement N, Patel T, Guetta-Baranes T, Brookes K, Medway C, Chappell S, Guerreiro R, Bras J, Hernandez D, Singleton A, Hardy J, Mann DM, et al. Mutation analysis of sporadic early-onset Alzheimer's disease using the NeuroX array. Neurobiology of Aging. PMID 27776828 DOI: 10.1016/J.Neurobiolaging.2016.09.008  0.259
2009 Bras J, Simón-Sánchez J, Federoff M, Morgadinho A, Januario C, Ribeiro M, Cunha L, Oliveira C, Singleton AB. Lack of replication of association between GIGYF2 variants and Parkinson disease. Human Molecular Genetics. 18: 341-6. PMID 18923002 DOI: 10.1093/hmg/ddn340  0.259
2006 Scholz SW, Xiromerisiou G, Fung HC, Eerola J, Hellström O, Papadimitriou A, Hadjigeorgiou GM, Tienari PJ, Fernandez HH, Mandel R, Okun MS, Gwinn-Hardy K, Singleton AB. The human prion gene M129V polymorphism is not associated with idiopathic Parkinson's disease in three distinct populations. Neuroscience Letters. 395: 227-9. PMID 16298483 DOI: 10.1016/J.Neulet.2005.10.081  0.258
2009 Scholz SW, Houlden H, Schulte C, Sharma M, Li A, Berg D, Melchers A, Paudel R, Gibbs JR, Simon-Sanchez J, Paisan-Ruiz C, Bras J, Ding J, Chen H, Traynor BJ, ... ... Singleton AB, et al. SNCA variants are associated with increased risk for multiple system atrophy. Annals of Neurology. 65: 610-4. PMID 19475667 DOI: 10.1002/Ana.21685  0.258
2008 Hardy J, Singleton A. The HapMap: charting a course for genetic discovery in neurological diseases. Archives of Neurology. 65: 319-21. PMID 18332243 DOI: 10.1001/Archneur.65.3.319  0.258
2012 Mittag F, Büchel F, Saad M, Jahn A, Schulte C, Bochdanovits Z, Simón-Sánchez J, Nalls MA, Keller M, Hernandez DG, Gibbs JR, Lesage S, Brice A, Heutink P, Martinez M, ... ... Singleton AB, et al. Use of support vector machines for disease risk prediction in genome-wide association studies: concerns and opportunities. Human Mutation. 33: 1708-18. PMID 22777693 DOI: 10.1002/Humu.22161  0.257
2005 Bras JM, Guerreiro RJ, Ribeiro MH, Januario C, Morgadinho A, Oliveira CR, Cunha L, Hardy J, Singleton A. G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort. Movement Disorders : Official Journal of the Movement Disorder Society. 20: 1653-5. PMID 16149095 DOI: 10.1002/Mds.20682  0.257
2006 Clarimon J, Scholz S, Fung H, Hardy J, Eerola J, Hellström O, Chen C, Wu Y, Tienari PJ, Singleton A. Conflicting results regarding the semaphorin gene (SEMA5A) and the risk for Parkinson disease American Journal of Human Genetics. 78: 1082-1083. PMID 16685660 DOI: 10.1086/504727  0.257
2020 Bandres-Ciga S, Diez-Fairen M, Kim JJ, Singleton AB. Genetics of Parkinson's disease: An introspection of its journey towards precision medicine. Neurobiology of Disease. 104782. PMID 31991247 DOI: 10.1016/j.nbd.2020.104782  0.257
2014 Cruchaga C, Karch CM, Jin SC, Benitez BA, Cai Y, Guerreiro R, Harari O, Norton J, Budde J, Bertelsen S, Jeng AT, Cooper B, Skorupa T, Carrell D, Levitch D, ... ... Singleton AB, et al. Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease. Nature. 505: 550-4. PMID 24336208 DOI: 10.1038/Nature12825  0.257
2019 Fernández-Santiago R, Martín-Flores N, Antonelli F, Cerquera C, Moreno V, Bandres-Ciga S, Manduchi E, Tolosa E, Singleton AB, Moore JH, Martí MJ, Ezquerra M, Malagelada C. Pathway single nucleotide polymorphisms interact to modulate the age at onset of Parkinson's disease. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 31234232 DOI: 10.1002/Mds.27770  0.256
2009 Bras J, Paisan-Ruiz C, Guerreiro R, Ribeiro MH, Morgadinho A, Januario C, Sidransky E, Oliveira C, Singleton A. Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal. Neurobiology of Aging. 30: 1515-7. PMID 18160183 DOI: 10.1016/J.Neurobiolaging.2007.11.016  0.256
2007 Greggio E, Singleton A. Kinase signaling pathways as potential targets in the treatment of Parkinson's disease. Expert Review of Proteomics. 4: 783-92. PMID 18067416 DOI: 10.1586/14789450.4.6.783  0.256
2013 Trabzuni D, Ryten M, Emmett W, Ramasamy A, Lackner KJ, Zeller T, Walker R, Smith C, Lewis PA, Mamais A, de Silva R, Vandrovcova J, Hernandez D, Nalls MA, ... ... Singleton A, et al. Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 locus. Plos One. 8: e70724. PMID 23967090 DOI: 10.1371/Journal.Pone.0070724  0.256
2008 Bras J, Singleton A, Cookson MR, Hardy J. Emerging pathways in genetic Parkinson's disease: Potential role of ceramide metabolism in Lewy body disease. The Febs Journal. 275: 5767-73. PMID 19021754 DOI: 10.1111/J.1742-4658.2008.06709.X  0.255
2016 Geiger JT, Ding J, Crain B, Pletnikova O, Letson C, Dawson TM, Rosenthal LS, Pantelyat A, Gibbs JR, Albert MS, Hernandez DG, Hillis AE, Stone DJ, Singleton AB, et al. Next-generation sequencing reveals substantial genetic contribution to dementia with Lewy bodies. Neurobiology of Disease. PMID 27312774 DOI: 10.1016/J.Nbd.2016.06.004  0.255
2016 Gang Q, Bettencourt C, Machado PM, Brady S, Holton JL, Pittman AM, Hughes D, Healy E, Parton M, Hilton-Jones D, Shieh PB, Needham M, Liang C, Zanoteli E, de Camargo LV, ... ... Singleton AB, et al. Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis. Neurobiology of Aging. PMID 27594680 DOI: 10.1016/J.Neurobiolaging.2016.07.024  0.255
2017 Blauwendraat C, Kia DA, Pihlstrøm L, Gan-Or Z, Lesage S, Gibbs JR, Ding J, Alcalay RN, Hassin-Baer S, Pittman AM, Brooks J, Edsall C, Chung SJ, Goldwurm S, Toft M, ... ... Singleton AB, et al. Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease. Neurobiology of Aging. PMID 29398121 DOI: 10.1016/J.Neurobiolaging.2017.12.012  0.255
2004 Eerola J, Hernandez D, Launes J, Hellström O, Hague S, Gulick C, Johnson J, Peuralinna T, Hardy J, Tienari PJ, Singleton AB. Assessment of a DJ-1 (PARK7) polymorphism in Finnish PD. Neurology. 61: 1000-2. PMID 14557580 DOI: 10.1212/01.Wnl.0000083992.28066.7E  0.254
2019 Siitonen A, Kytövuori L, Nalls MA, Gibbs R, Hernandez DG, Ylikotila P, Peltonen M, Singleton AB, Majamaa K. Finnish Parkinson's disease study integrating protein-protein interaction network data with exome sequencing analysis. Scientific Reports. 9: 18865. PMID 31827228 DOI: 10.1038/S41598-019-55479-Y  0.253
2011 Höglinger GU, Melhem NM, Dickson DW, Sleiman PM, Wang LS, Klei L, Rademakers R, de Silva R, Litvan I, Riley DE, van Swieten JC, Heutink P, Wszolek ZK, Uitti RJ, Vandrovcova J, ... ... Singleton AB, et al. Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. Nature Genetics. 43: 699-705. PMID 21685912 DOI: 10.1038/Ng.859  0.253
2012 Majounie E, Abramzon Y, Renton AE, Keller MF, Traynor BJ, Singleton AB. Large C9orf72 repeat expansions are not a common cause of Parkinson's disease. Neurobiology of Aging. 33: 2527.e1-2. PMID 22721568 DOI: 10.1016/J.Neurobiolaging.2012.05.007  0.252
2012 Lohmann E, Guerreiro RJ, Erginel-Unaltuna N, Gurunlian N, Bilgic B, Gurvit H, Hanagasi HA, Luu N, Emre M, Singleton A. Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients. Neurobiology of Aging. 33: 1850.e17-27. PMID 22503161 DOI: 10.1016/J.Neurobiolaging.2012.02.020  0.252
2010 Paisán-Ruiz C, Guevara R, Federoff M, Hanagasi H, Sina F, Elahi E, Schneider SA, Schwingenschuh P, Bajaj N, Emre M, Singleton AB, Hardy J, Bhatia KP, Brandner S, Lees AJ, et al. Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations. Movement Disorders : Official Journal of the Movement Disorder Society. 25: 1791-800. PMID 20669327 DOI: 10.1002/Mds.23221  0.252
2008 Bras J, Guerreiro R, Ribeiro M, Morgadinho A, Januario C, Dias M, Calado A, Semedo C, Oliveira C, Hardy J, Singleton A. Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRKN, PINK1 and LRRK2. Bmc Neurology. 8: 1. PMID 18211709 DOI: 10.1186/1471-2377-8-1  0.252
2011 Anderson CD, Nalls MA, Biffi A, Rost NS, Greenberg SM, Singleton AB, Meschia JF, Rosand J. The effect of survival bias on case-control genetic association studies of highly lethal diseases. Circulation. Cardiovascular Genetics. 4: 188-96. PMID 21292865 DOI: 10.1161/Circgenetics.110.957928  0.252
2006 Fung HC, Chen CM, Hardy J, Singleton AB, Wu YR. A common genetic factor for Parkinson disease in ethnic Chinese population in Taiwan. Bmc Neurology. 6: 47. PMID 17187665 DOI: 10.1186/1471-2377-6-47  0.251
2017 Jansen IE, Ye H, Heetveld S, Lechler MC, Michels H, Seinstra RI, Lubbe SJ, Drouet V, Lesage S, Majounie E, Gibbs JR, Nalls MA, Ryten M, Botia JA, Vandrovcova J, ... ... Singleton AB, et al. Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing. Genome Biology. 18: 22. PMID 28137300 DOI: 10.1186/S13059-017-1147-9  0.25
2015 Nichols N, Bras JM, Hernandez DG, Jansen IE, Lesage S, Lubbe S, Singleton AB. EIF4G1 mutations do not cause Parkinson's disease. Neurobiology of Aging. 36: 2444.e1-4. PMID 26022768 DOI: 10.1016/J.Neurobiolaging.2015.04.017  0.25
2011 Bras JM, Singleton AB. Exome sequencing in Parkinson's disease. Clinical Genetics. 80: 104-9. PMID 21651510 DOI: 10.1111/j.1399-0004.2011.01722.x  0.249
2015 Escott-Price V, Nalls MA, Morris HR, Lubbe S, Brice A, Gasser T, Heutink P, Wood NW, Hardy J, Singleton AB, Williams NM. Polygenic risk of Parkinson disease is correlated with disease age at onset. Annals of Neurology. 77: 582-91. PMID 25773351 DOI: 10.1002/Ana.24335  0.249
2019 Kunkle BW, Grenier-Boley B, Sims R, Bis JC, Damotte V, Naj AC, Boland A, Vronskaya M, van der Lee SJ, Amlie-Wolf A, Bellenguez C, Frizatti A, Chouraki V, Martin ER, Sleegers K, ... ... Singleton AB, et al. Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing. Nature Genetics. 51: 414-430. PMID 30820047 DOI: 10.1038/s41588-019-0358-2  0.249
2003 Singleton A. Familiality in simple and complex disease Clinical Autonomic Research. 13: 88-90. PMID 12720091 DOI: 10.1007/S10286-003-0091-9  0.248
2016 Singleton A, Hardy J. The Evolution of Genetics: Alzheimer's and Parkinson's Diseases. Neuron. 90: 1154-63. PMID 27311081 DOI: 10.1016/J.Neuron.2016.05.040  0.248
2017 Singleton AB, Hardy JA, Gasser T. The Birth of the Modern Era of Parkinson's Disease Genetics. Journal of Parkinson's Disease. 7: S89-S95. PMID 28282818 DOI: 10.3233/JPD-179009  0.248
2013 Thompson AJ, Scholz SW, Singleton AB, Hardwick A, McFarland NR, Okun MS. Variability in clinical phenotypes of heterozygous and homozygous cases of Parkin-related Parkinson's disease. The International Journal of Neuroscience. 123: 847-9. PMID 23767969 DOI: 10.3109/00207454.2013.810626  0.247
2018 Marek K, Chowdhury S, Siderowf A, Lasch S, Coffey CS, Caspell-Garcia C, Simuni T, Jennings D, Tanner CM, Trojanowski JQ, Shaw LM, Seibyl J, Schuff N, Singleton A, Kieburtz K, et al. The Parkinson's progression markers initiative (PPMI) - establishing a PD biomarker cohort. Annals of Clinical and Translational Neurology. 5: 1460-1477. PMID 30564614 DOI: 10.1002/Acn3.644  0.247
2013 Guerreiro RJ, Lohmann E, Brás JM, Gibbs JR, Rohrer JD, Gurunlian N, Dursun B, Bilgic B, Hanagasi H, Gurvit H, Emre M, Singleton A, Hardy J. Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement. Jama Neurology. 70: 78-84. PMID 23318515 DOI: 10.1001/Jamaneurol.2013.579  0.247
2015 van der Brug MP, Singleton A, Gasser T, Lewis PA. Parkinson's disease: From human genetics to clinical trials. Science Translational Medicine. 7: 205ps20. PMID 26378242 DOI: 10.1126/Scitranslmed.Aaa8280  0.246
2002 Subramony SH, Hernandez D, Adam A, Smith-Jefferson S, Hussey J, Gwinn-Hardy K, Lynch T, McDaniel O, Hardy J, Farrer M, Singleton A. Ethnic differences in the expression of neurodegenerative disease: Machado-Joseph disease in Africans and Caucasians. Movement Disorders : Official Journal of the Movement Disorder Society. 17: 1068-71. PMID 12360561 DOI: 10.1002/Mds.10241  0.246
2007 Johnson J, Paisán-Ruíz C, Lopez G, Crews C, Britton A, Malkani R, Evans EW, McInerney-Leo A, Jain S, Nussbaum RL, Foote KD, Mandel RJ, Crawley A, Reimsnider S, Fernandez HH, ... ... Singleton AB, et al. Comprehensive screening of a North American Parkinson's disease cohort for LRRK2 mutation. Neuro-Degenerative Diseases. 4: 386-91. PMID 17622782 DOI: 10.1159/000105160  0.246
2015 Lesage S, Bras J, Cormier-Dequaire F, Condroyer C, Nicolas A, Darwent L, Guerreiro R, Majounie E, Federoff M, Heutink P, Wood NW, Gasser T, Hardy J, Tison F, Singleton A, et al. Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease. Neurology. Genetics. 1: e9. PMID 27066548 DOI: 10.1212/Nxg.0000000000000009  0.245
2015 Scholz SW, Majounie E, Revesz T, Holton JL, Okun MS, Houlden H, Singleton AB. Multiple system atrophy is not caused by C9orf72 hexanucleotide repeat expansions. Neurobiology of Aging. 36: 1223.e1-2. PMID 25281017 DOI: 10.1016/J.Neurobiolaging.2014.08.033  0.245
2013 Holton P, Ryten M, Nalls M, Trabzuni D, Weale ME, Hernandez D, Crehan H, Gibbs JR, Mayeux R, Haines JL, Farrer LA, Pericak-Vance MA, Schellenberg GD, Ramirez-Restrepo M, ... ... Singleton A, et al. Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk Loci. Annals of Human Genetics. 77: 85-105. PMID 23360175 DOI: 10.1111/Ahg.12000  0.244
2006 Hardy J, Cai H, Cookson MR, Gwinn-Hardy K, Singleton A. Genetics of Parkinson's disease and parkinsonism. Annals of Neurology. 60: 389-98. PMID 17068789 DOI: 10.1002/Ana.21022  0.244
2017 Ferrari R, Grassi M, Graziano F, Palluzzi F, Archetti S, Bonomi E, Bruni AC, Maletta RG, Bernardi L, Cupidi C, Colao R, Rainero I, Rubino E, Pinessi L, Galimberti D, ... ... Singleton A, et al. Effects of Multiple Genetic Loci on Age at Onset in Frontotemporal Dementia. Journal of Alzheimer's Disease : Jad. PMID 28128768 DOI: 10.3233/Jad-160949  0.244
2009 Liu W, Ding J, Gibbs JR, Wang SJ, Hardy J, Singleton A. A simple and efficient algorithm for genome-wide homozygosity analysis in disease. Molecular Systems Biology. 5: 304. PMID 19756043 DOI: 10.1038/Msb.2009.53  0.243
2006 Nishioka K, Hayashi S, Farrer MJ, Singleton AB, Yoshino H, Imai H, Kitami T, Sato K, Kuroda R, Tomiyama H, Mizoguchi K, Murata M, Toda T, Imoto I, Inazawa J, et al. Clinical heterogeneity of alpha-synuclein gene duplication in Parkinson's disease. Annals of Neurology. 59: 298-309. PMID 16358335 DOI: 10.1002/ana.20753  0.243
2021 Alfradique-Dunham I, Al-Ouran R, von Coelln R, Blauwendraat C, Hill E, Luo L, Stillwell A, Young E, Kaw A, Tan M, Liao C, Hernandez D, Pihlstrom L, Grosset D, Shulman LM, ... ... Singleton AB, et al. Genome-Wide Association Study Meta-Analysis for Parkinson Disease Motor Subtypes. Neurology. Genetics. 7: e557. PMID 33987465 DOI: 10.1212/NXG.0000000000000557  0.243
2014 Ferrari R, Hernandez DG, Nalls MA, Rohrer JD, Ramasamy A, Kwok JB, Dobson-Stone C, Brooks WS, Schofield PR, Halliday GM, Hodges JR, Piguet O, Bartley L, Thompson E, Haan E, ... ... Singleton AB, et al. Frontotemporal dementia and its subtypes: a genome-wide association study. The Lancet. Neurology. 13: 686-99. PMID 24943344 DOI: 10.1016/S1474-4422(14)70065-1  0.243
2020 Lesage S, Lunati A, Houot M, Romdhan SB, Clot F, Tesson C, Mangone G, Toullec BL, Courtin T, Larcher K, Benmahdjoub M, Arezki M, Bouhouche A, Anheim M, Roze E, ... ... Singleton A, et al. Characterization of recessive Parkinson's disease in a large multicenter study. Annals of Neurology. PMID 32472966 DOI: 10.1002/Ana.25787  0.242
2005 Greggio E, Bergantino E, Carter D, Ahmad R, Costin GE, Hearing VJ, Clarimon J, Singleton A, Eerola J, Hellström O, Tienari PJ, Miller DW, Beilina A, Bubacco L, Cookson MR. Tyrosinase exacerbates dopamine toxicity but is not genetically associated with Parkinson's disease. Journal of Neurochemistry. 93: 246-56. PMID 15773923 DOI: 10.1111/J.1471-4159.2005.03019.X  0.242
2020 Espay AJ, Kalia LV, Gan-Or Z, Williams-Gray CH, Bedard PL, Rowe SM, Morgante F, Fasano A, Stecher B, Kauffman MA, Farrer MJ, Coffey CS, Schwarzschild MA, Sherer T, Postuma RB, ... ... Singleton AB, et al. Disease modification and biomarker development in Parkinson disease: Revision or reconstruction? Neurology. PMID 32102975 DOI: 10.1212/Wnl.0000000000009107  0.242
2015 Dong J, Yang J, Tranah G, Franceschini N, Parimi N, Alkorta-Aranburu G, Xu Z, Alonso A, Cummings SR, Fornage M, Huang X, Kritchevsky S, Liu Y, London S, Niu L, ... ... Singleton AB, et al. Genome-wide Meta-analysis on the Sense of Smell Among US Older Adults. Medicine. 94: e1892. PMID 26632684 DOI: 10.1097/Md.0000000000001892  0.241
2008 Clarimón J, Pagonabarraga J, Paisán-Ruíz C, Campolongo A, Pascual-Sedano B, Martí-Massó JF, Singleton AB, Kulisevsky J. Tremor dominant parkinsonism: Clinical description and LRRK2 mutation screening. Movement Disorders : Official Journal of the Movement Disorder Society. 23: 518-23. PMID 18098275 DOI: 10.1002/mds.21771  0.241
2011 Stemberger S, Scholz SW, Singleton AB, Wenning GK. Genetic players in multiple system atrophy: unfolding the nature of the beast. Neurobiology of Aging. 32: 1924.e5-14. PMID 21601954 DOI: 10.1016/j.neurobiolaging.2011.04.001  0.241
2012 Federoff M, Jimenez-Rolando B, Nalls MA, Singleton AB. A large study reveals no association between APOE and Parkinson's disease. Neurobiology of Disease. 46: 389-92. PMID 22349451 DOI: 10.1016/J.Nbd.2012.02.002  0.241
2003 Singleton AB, Farrer M, Johnson J, Singleton A, Hague S, Kachergus J, Hulihan M, Peuralinna T, Dutra A, Nussbaum R, Lincoln S, Crawley A, Hanson M, Maraganore D, Adler C, et al. alpha-Synuclein locus triplication causes Parkinson's disease. Science (New York, N.Y.). 302: 841. PMID 14593171 DOI: 10.1126/Science.1090278  0.241
2019 Simuni T, Uribe L, Cho HR, Caspell-Garcia C, Coffey CS, Siderowf A, Trojanowski JQ, Shaw LM, Seibyl J, Singleton A, Toga AW, Galasko D, Foroud T, Tosun D, Poston K, et al. Clinical and dopamine transporter imaging characteristics of non-manifest LRRK2 and GBA mutation carriers in the Parkinson's Progression Markers Initiative (PPMI): a cross-sectional study. The Lancet. Neurology. PMID 31678032 DOI: 10.1016/S1474-4422(19)30319-9  0.24
2008 Guerreiro RJ, Schymick JC, Crews C, Singleton A, Hardy J, Traynor BJ. TDP-43 is not a common cause of sporadic amyotrophic lateral sclerosis. Plos One. 3: e2450. PMID 18545701 DOI: 10.1371/Journal.Pone.0002450  0.24
2006 Eblan MJ, Scholz S, Stubblefield B, Gutti U, Goker-Alpan O, Hruska KS, Singleton AB, Sidransky E. Glucocerebrosidase mutations are not found in association with LRRK2 G2019S in subjects with parkinsonism Neuroscience Letters. 404: 163-165. PMID 16781064 DOI: 10.1016/j.neulet.2006.05.032  0.239
2009 Hardy J, Singleton A. Genomewide association studies and human disease. The New England Journal of Medicine. 360: 1759-68. PMID 19369657 DOI: 10.1056/Nejmra0808700  0.239
2016 Kraemmer J, Smith K, Weintraub D, Guillemot V, Nalls MA, Cormier-Dequaire F, Moszer I, Brice A, Singleton AB, Corvol JC. Clinical-genetic model predicts incident impulse control disorders in Parkinson's disease. Journal of Neurology, Neurosurgery, and Psychiatry. PMID 27076492 DOI: 10.1136/Jnnp-2015-312848  0.239
2020 Iwaki H, Blauwendraat C, Leonard HL, Makarious MB, Kim JJ, Liu G, Maple-Grødem J, Corvol JC, Pihlstrøm L, van Nimwegen M, Smolensky L, Amondikar N, Hutten SJ, Frasier M, Nguyen KH, ... ... Singleton AB, et al. Differences in the Presentation and Progression of Parkinson's Disease by Sex. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 33002231 DOI: 10.1002/mds.28312  0.238
2018 Kristiansen M, Maple-Grødem J, Alves G, Arepalli S, Hernandez DG, Iwaki H, Nalls MA, Singleton A, Tysnes OB, Toft M, Pihlstrøm L. A paradoxical relationship between family history, onset age, and genetic risk in Parkinson's disease. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 30484896 DOI: 10.1002/Mds.27555  0.237
2020 Singleton AB, Gasser T. The Discovery of LRRK2 Mutations as a Cause of Parkinson's Disease. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 32065426 DOI: 10.1002/mds.27999  0.237
2014 Guerreiro R, Brás J, Hardy J, Singleton A. Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations. Human Molecular Genetics. 23: R47-53. PMID 24794858 DOI: 10.1093/Hmg/Ddu203  0.237
2013 Keller MF, Saad M, Bras J, Bettella F, Nicolaou N, Siḿn-śnchez J, Mittag F, B̈chel F, Sharma M, Gibbs JR, Schulte C, Moskvina V, Durr A, Holmans P, Kilarski LL, ... ... Singleton AB, et al. Corrigendum to Using genome-wide complex trait analysis to quantify 'missing heritability' in parkinson's disease [Human Molecular Genetics, 21:22 (2012) 4996-5009] doi: 10.1093/hmg/dds335] Human Molecular Genetics. 22: 1696. DOI: 10.1093/Hmg/Ddt030  0.237
2011 Singleton AB. Exome sequencing: a transformative technology. The Lancet. Neurology. 10: 942-6. PMID 21939903 DOI: 10.1016/S1474-4422(11)70196-X  0.236
2007 Gwinn K, Corriveau RA, Mitsumoto H, Bednarz K, Brown RH, Cudkowicz M, Gordon PH, Hardy J, Kasarskis EJ, Kaufmann P, Miller R, Sorenson E, Tandan R, Traynor BJ, Nash J, ... ... Singleton A, et al. Amyotrophic lateral sclerosis: an emerging era of collaborative gene discovery. Plos One. 2: e1254. PMID 18060051 DOI: 10.1371/Journal.Pone.0001254  0.236
2020 Shadrin AA, Mucha S, Ellinghaus D, Makarious MB, Blauwendraat C, Sreelatha AAK, Heras-Garvin A, Ding J, Hammer M, Foubert-Samier A, Meissner WG, Rascol O, Pavy-Le Traon A, Frei O, O'Connell KS, ... ... Singleton A, et al. Shared Genetics of Multiple System Atrophy and Inflammatory Bowel Disease. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 33107653 DOI: 10.1002/mds.28338  0.236
2013 Harold D, Abraham R, Hollingworth P, Sims R, Gerrish A, Hamshere ML, Pahwa JS, Moskvina V, Dowzell K, Williams A, Jones N, Thomas C, Stretton A, Morgan AR, Lovestone S, ... ... Singleton AB, et al. Erratum: Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease Nature Genetics. 45: 712-712. DOI: 10.1038/Ng0613-712A  0.236
2009 Harold D, Abraham R, Hollingworth P, Sims R, Gerrish A, Hamshere ML, Pahwa JS, Moskvina V, Dowzell K, Williams A, Jones N, Thomas C, Stretton A, Morgan AR, Lovestone S, ... ... Singleton AB, et al. Erratum: Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease Nature Genetics. 41: 1156-1156. DOI: 10.1038/Ng1009-1156D  0.236
2012 Camargos S, Lees AJ, Singleton A, Cardoso F. DYT16: the original cases. Journal of Neurology, Neurosurgery, and Psychiatry. 83: 1012-4. PMID 22842711 DOI: 10.1136/Jnnp-2012-302841  0.235
2020 Jacobs BM, Belete D, Bestwick J, Blauwendraat C, Bandres-Ciga S, Heilbron K, Dobson R, Nalls MA, Singleton A, Hardy J, Giovannoni G, Lees AJ, Schrag AE, Noyce AJ. Parkinson's disease determinants, prediction and gene-environment interactions in the UK Biobank. Journal of Neurology, Neurosurgery, and Psychiatry. 91: 1046-1054. PMID 32934108 DOI: 10.1136/Jnnp-2020-323646  0.235
2020 Lesage S, Lunati A, Houot M, Romdhan SB, Clot F, Tesson C, Mangone G, Toullec BL, Courtin T, Larcher K, Benmahdjoub M, Arezki M, Bouhouche A, Anheim M, Roze E, ... ... Singleton A, et al. Characterization of Recessive Parkinson Disease in a Large Multicenter Study. Annals of Neurology. 88: 843-850. PMID 33045815 DOI: 10.1002/ana.25787  0.235
2006 Fung HC, Chen CM, Hardy J, Singleton AB, Lee-Chen GJ, Wu YR. Analysis of the PINK1 gene in a cohort of patients with sporadic early-onset parkinsonism in Taiwan Neuroscience Letters. 394: 33-36. PMID 16257123 DOI: 10.1016/J.Neulet.2005.10.005  0.234
2010 Guerreiro RJ, Washecka N, Hardy J, Singleton A. A thorough assessment of benign genetic variability in GRN and MAPT. Human Mutation. 31: E1126-40. PMID 20020531 DOI: 10.1002/Humu.21152  0.234
2011 Simón-Sánchez J, van Hilten JJ, van de Warrenburg B, Post B, Berendse HW, Arepalli S, Hernandez DG, de Bie RM, Velseboer D, Scheffer H, Bloem B, van Dijk KD, Rivadeneira F, Hofman A, Uitterlinden AG, ... ... Singleton AB, et al. Genome-wide association study confirms extant PD risk loci among the Dutch. European Journal of Human Genetics : Ejhg. 19: 655-61. PMID 21248740 DOI: 10.1038/Ejhg.2010.254  0.234
2003 Payami H, Nutt J, Gancher S, Bird T, McNeal MG, Seltzer WK, Hussey J, Lockhart P, Gwinn-Hardy K, Singleton AA, Singleton AB, Hardy J, Farrer M. SCA2 may present as levodopa-responsive parkinsonism. Movement Disorders : Official Journal of the Movement Disorder Society. 18: 425-9. PMID 12671950 DOI: 10.1002/Mds.10375  0.234
2012 Sailer A, Scholz SW, Gibbs JR, Tucci A, Johnson JO, Wood NW, Plagnol V, Hummerich H, Ding J, Hernandez D, Hardy J, Federoff HJ, Traynor BJ, Singleton AB, Houlden H. Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases. Neurology. 79: 127-31. PMID 22675081 DOI: 10.1212/Wnl.0B013E31825F048E  0.233
2003 Hague S, Rogaeva E, Hernandez D, Gulick C, Singleton A, Hanson M, Johnson J, Weiser R, Gallardo M, Ravina B, Gwinn-Hardy K, Crawley A, St George-Hyslop PH, Lang AE, Heutink P, ... Singleton A, et al. Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation. Annals of Neurology. 54: 271-4. PMID 12891685 DOI: 10.1002/Ana.10663  0.233
2018 Sassi C, Nalls MA, Ridge PG, Gibbs JR, Lupton MK, Troakes C, Lunnon K, Al-Sarraj S, Brown KS, Medway C, Lord J, Turton J, Bras J, Blumenau S, ... ... Singleton AB, et al. Mendelian adult-onset leukodystrophy genes in Alzheimer's disease: critical influence of CSF1R and NOTCH3. Neurobiology of Aging. PMID 29544907 DOI: 10.1016/j.neurobiolaging.2018.01.015  0.233
2013 Westra HJ, Peters MJ, Esko T, Yaghootkar H, Schurmann C, Kettunen J, Christiansen MW, Fairfax BP, Schramm K, Powell JE, Zhernakova A, Zhernakova DV, Veldink JH, Van den Berg LH, Karjalainen J, ... ... Singleton AB, et al. Systematic identification of trans eQTLs as putative drivers of known disease associations. Nature Genetics. 45: 1238-43. PMID 24013639 DOI: 10.1038/Ng.2756  0.233
2006 Hadjigeorgiou GM, Xiromerisiou G, Gourbali V, Aggelakis K, Scarmeas N, Papadimitriou A, Singleton A. Association of alpha-synuclein Rep1 polymorphism and Parkinson's disease: influence of Rep1 on age at onset. Movement Disorders : Official Journal of the Movement Disorder Society. 21: 534-9. PMID 16250025 DOI: 10.1002/Mds.20752  0.232
2021 Heilbron K, Jensen MP, Bandres-Ciga S, Fontanillas P, Blauwendraat C, Nalls MA, Singleton AB, Smith GD, Cannon P, Noyce AJ. Unhealthy Behaviours and Risk of Parkinson's Disease: A Mendelian Randomisation Study. Journal of Parkinson's Disease. PMID 34275906 DOI: 10.3233/JPD-202487  0.232
2021 Lubbe SJ, Bustos B, Hu J, Krainc D, Joseph T, Hehir J, Tan M, Zhang W, Escott-Price V, Williams NM, Blauwendraat C, Singleton AB, Morris HR. Assessing the Relationship Between Monoallelic PRKN Mutations and Parkinson's Risk. Human Molecular Genetics. PMID 33448283 DOI: 10.1093/hmg/ddaa273  0.231
2006 Garcia ML, Singleton AB, Hernandez D, Ward CM, Evey C, Sapp PA, Hardy J, Brown RH, Cleveland DW. Mutations in neurofilament genes are not a significant primary cause of non-SOD1-mediated amyotrophic lateral sclerosis. Neurobiology of Disease. 21: 102-9. PMID 16084104 DOI: 10.1016/J.Nbd.2005.06.016  0.231
2013 Klebe S, Golmard JL, Nalls MA, Saad M, Singleton AB, Bras JM, Hardy J, Simon-Sanchez J, Heutink P, Kuhlenbäumer G, Charfi R, Klein C, Hagenah J, Gasser T, Wurster I, et al. The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism. Journal of Neurology, Neurosurgery, and Psychiatry. 84: 666-73. PMID 23408064 DOI: 10.1136/Jnnp-2012-304475  0.231
2015 Barber IS, García-Cárdenas JM, Sakdapanichkul C, Deacon C, Zapata Erazo G, Guerreiro R, Bras J, Hernandez D, Singleton A, Guetta-Baranes T, Braae A, Clement N, Patel T, Brookes K, Medway C, et al. Screening exons 16 and 17 of the amyloid precursor protein gene in sporadic early-onset Alzheimer's disease. Neurobiology of Aging. PMID 26803359 DOI: 10.1016/J.Neurobiolaging.2015.12.011  0.231
2015 Nalls MA, McLean CY, Rick J, Eberly S, Hutten SJ, Gwinn K, Sutherland M, Martinez M, Heutink P, Williams NM, Hardy J, Gasser T, Brice A, Price TR, Nicolas A, ... ... Singleton AB, et al. Diagnosis of Parkinson's disease on the basis of clinical and genetic classification: a population-based modelling study. The Lancet. Neurology. 14: 1002-9. PMID 26271532 DOI: 10.1016/S1474-4422(15)00178-7  0.23
2016 Adams HH, Hibar DP, Chouraki V, Stein JL, Nyquist PA, Rentería ME, Trompet S, Arias-Vasquez A, Seshadri S, Desrivières S, Beecham AH, Jahanshad N, Wittfeld K, Van der Lee SJ, Abramovic L, ... ... Singleton A, et al. Novel genetic loci underlying human intracranial volume identified through genome-wide association. Nature Neuroscience. PMID 27694991 DOI: 10.1038/Nn.4398  0.23
2013 Appenzeller S, Schulte C, Thier S, Hopfner F, Pendziwiat M, Papengut F, Klein C, Hagenah J, Kasten M, Srulijes K, Berg D, Gasser T, Singleton A, Deuschl G, Kuhlenbäumer G. No association between polymorphisms in the glutamate transporter SLC1A2 and Parkinson's disease. Movement Disorders : Official Journal of the Movement Disorder Society. 28: 1305-6. PMID 23390085 DOI: 10.1002/Mds.25330  0.23
2009 Paisán-Ruiz C, Washecka N, Nath P, Singleton AB, Corder EH. Parkinson's disease and low frequency alleles found together throughout LRRK2. Annals of Human Genetics. 73: 391-403. PMID 19489756 DOI: 10.1111/j.1469-1809.2009.00524.x  0.229
2016 Patel T, Clement NS, Barber I, Braae A, Brookes KJ, Guetta-Baranes T, Chappell S, Guerreiro R, Bras JT, Singleton A, Hardy J, Morgan K. Investigating Sarm1 Variants In Alzheimer’S Disease Cohorts Alzheimers & Dementia. 12: 855. DOI: 10.1016/J.Jalz.2016.06.1750  0.228
2014 Sassi C, Guerreiro R, Gibbs R, Ding J, Lupton MK, Troakes C, Lunnon K, Al-Sarraj S, Brown KS, Medway C, Lord J, Turton J, Mann D, Snowden J, Neary D, ... ... Singleton A, et al. Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease. Neurobiology of Aging. 35: 2422.e13-6. PMID 24880964 DOI: 10.1016/J.Neurobiolaging.2014.04.026  0.228
2009 Bucan M, Abrahams BS, Wang K, Glessner JT, Herman EI, Sonnenblick LI, Alvarez Retuerto AI, Imielinski M, Hadley D, Bradfield JP, Kim C, Gidaya NB, Lindquist I, Hutman T, Sigman M, ... ... Singleton A, et al. Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. Plos Genetics. 5: e1000536. PMID 19557195 DOI: 10.1371/Journal.Pgen.1000536  0.228
2019 Bandres-Ciga S, Saez-Atienzar S, Bonet-Ponce L, Billingsley K, Vitale D, Blauwendraat C, Gibbs JR, Pihlstrøm L, Gan-Or Z, Cookson MR, Nalls MA, Singleton AB. The endocytic membrane trafficking pathway plays a major role in the risk of Parkinson's disease. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 30675927 DOI: 10.1002/Mds.27614  0.227
2008 Clarimón J, Guerreiro R, Lleó A, Guardia C, Blesa R, Gómez-Isla T, Boada M, Bullido M, Ferrer I, Martínez-Lage P, Masdeu J, Molina L, Molinuevo JL, Pastor P, Pérez-Tur J, ... ... Singleton A, et al. P3-213: Genetic screening in a large cohort of early-onset Alzheimer's disease patients from Spain: Novel mutations in the amyloid precursor protein and presenilines Alzheimers & Dementia. 4. DOI: 10.1016/J.Jalz.2008.05.1780  0.227
2012 Majounie E, Abramzon Y, Renton AE, Perry R, Bassett SS, Pletnikova O, Troncoso JC, Hardy J, Singleton AB, Traynor BJ. Repeat expansion in C9ORF72 in Alzheimer's disease. The New England Journal of Medicine. 366: 283-4. PMID 22216764 DOI: 10.1056/Nejmc1113592  0.227
2019 Jinn S, Blauwendraat C, Toolan D, Gretzula CA, Drolet RE, Smith S, Nalls MA, Marcus J, Singleton AB, Stone DJ. Functionalization of the TMEM175 p.M393T Variant as a risk factor for Parkinson Disease. Human Molecular Genetics. PMID 31261387 DOI: 10.1093/Hmg/Ddz136  0.227
2006 Fung HC, Chen CM, Hardy J, Hernandez D, Singleton A, Wu YR. Lack of G2019S LRRK2 mutation in a cohort of Taiwanese with sporadic Parkinson's disease. Movement Disorders : Official Journal of the Movement Disorder Society. 21: 880-1. PMID 16511860 DOI: 10.1002/Mds.20814  0.226
2008 Simón-Sánchez J, Singleton A. Genome-wide association studies in neurological disorders. The Lancet. Neurology. 7: 1067-72. PMID 18940696 DOI: 10.1016/S1474-4422(08)70241-2  0.226
2013 Scharf JM, Yu D, Mathews CA, Neale BM, Stewart SE, Fagerness JA, Evans P, Gamazon E, Edlund CK, Service SK, Tikhomirov A, Osiecki L, Illmann C, Pluzhnikov A, Konkashbaev A, ... ... Singleton A, et al. Genome-wide association study of Tourette's syndrome. Molecular Psychiatry. 18: 721-8. PMID 22889924 DOI: 10.1038/Mp.2012.69  0.226
2019 Bandres-Ciga S, Ahmed S, Sabir MS, Blauwendraat C, Adarmes-Gómez AD, Bernal-Bernal I, Bonilla-Toribio M, Buiza-Rueda D, Carrillo F, Carrión-Claro M, Gómez-Garre P, Jesús S, Labrador-Espinosa MA, Macias D, Méndez-Del-Barrio C, ... ... Singleton A, et al. The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population-Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 31660654 DOI: 10.1002/Mds.27864  0.226
2010 Huentelman M, Corneveaux J, Myers A, Allen A, Pruzin J, Nalls M, Chibnik L, Singleton A, Craig D, Van Keuren-Jensen K, Dunckley T, Bennett D, DeJager P, Hardy J, Reiman E. S4-03-02: Genome-Wide Association Study for Alzheimer's Disease Risk in a Large Cohort Of Clinically Characterized And Neuropathologically Verified Subjects Alzheimer's & Dementia. 6: e13-e13. DOI: 10.1016/J.Jalz.2010.08.041  0.226
2007 Clarimon J, Brancati F, Peckham E, Valente EM, Dallapiccola B, Abruzzese G, Girlanda P, Defazio G, Berardelli A, Hallett M, Singleton AB. Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm. Movement Disorders : Official Journal of the Movement Disorder Society. 22: 162-6. PMID 17133500 DOI: 10.1002/Mds.21182  0.226
2004 Bruno MK, Ravina B, Garraux G, Hallett M, Ptacek L, Singleton A, Johnson J, Singleton A, Hanson M, Considine E, Gwinn-Hardy K. Exercise-induced dystonia as a preceding symptom of familial Parkinson's disease. Movement Disorders : Official Journal of the Movement Disorder Society. 19: 228-30. PMID 14978684 DOI: 10.1002/Mds.10626  0.225
2014 Benitez BA, Jin SC, Guerreiro R, Graham R, Lord J, Harold D, Sims R, Lambert JC, Gibbs JR, Bras J, Sassi C, Harari O, Bertelsen S, Lupton MK, Powell J, ... ... Singleton A, et al. Missense variant in TREML2 protects against Alzheimer's disease. Neurobiology of Aging. 35: 1510.e19-26. PMID 24439484 DOI: 10.1016/J.Neurobiolaging.2013.12.010  0.225
2002 Goudreau JL, Maraganore DM, Farrer MJ, Lesnick TG, Singleton AB, Bower JH, Hardy JA, Rocca WA. Case-control study of dopamine transporter-1, monoamine oxidase-B, and catechol-O-methyl transferase polymorphisms in Parkinson's disease. Movement Disorders : Official Journal of the Movement Disorder Society. 17: 1305-11. PMID 12465073 DOI: 10.1002/Mds.10268  0.225
2018 Zhang M, Ferrari R, Tartaglia MC, Keith J, Surace EI, Wolf U, Sato C, Grinberg M, Liang Y, Xi Z, Dupont K, McGoldrick P, Weichert A, McKeever PM, Schneider R, ... ... Singleton A, et al. A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers. Brain : a Journal of Neurology. PMID 30252044 DOI: 10.1093/Brain/Awy238  0.224
2014 Holmans P, Moskvina V, Jones L, Sharma M, Vedernikov A, Buchel F, Saad M, Bras JM, Bettella F, Nicolaou N, Simón-Sánchez J, Mittag F, Gibbs JR, Schulte C, Durr A, ... ... Singleton AB, et al. A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease [Human Molecular Genetics 22, 5, 2013, 1039-1049] doi:10.1093/hmg/dds492 Human Molecular Genetics. 23: 562. DOI: 10.1093/Hmg/Ddt554  0.224
2019 Hammer M, Abravanel A, Peckham E, Mahloogi A, Majounie E, Hallett M, Singleton A. Blepharospasm: A genetic screening study in 132 patients. Parkinsonism & Related Disorders. PMID 30956059 DOI: 10.1016/J.Parkreldis.2019.04.003  0.223
2005 Clarimon J, Johnson J, Dogu O, Horta W, Khan N, Lees AJ, Hardy J, Singleton A. Defining the ends of Parkin exon 4 deletions in two different families with Parkinson's disease. American Journal of Medical Genetics. 133: 120-123. PMID 15635662 DOI: 10.1002/Ajmg.B.30119  0.222
2009 Chiò A, Schymick JC, Restagno G, Scholz SW, Lombardo F, Lai SL, Mora G, Fung HC, Britton A, Arepalli S, Gibbs JR, Nalls M, Berger S, Kwee LC, Oddone EZ, ... ... Singleton A, et al. A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis. Human Molecular Genetics. 18: 1524-32. PMID 19193627 DOI: 10.1093/Hmg/Ddp059  0.221
2018 Blauwendraat C, Bras JM, Nalls MA, Lewis PA, Hernandez DG, Singleton AB. Coding variation in GBA explains the majority of the SYT11-GBA Parkinson's disease GWAS locus. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 30302829 DOI: 10.1002/mds.103  0.221
2009 Jain S, Singleton AB. Parkinson's disease: Genomic perspectives Genomic and Personalized Medicine, Two-Vol Set. 1233-1242. DOI: 10.1016/B978-0-12-369420-1.00100-1  0.221
2008 Scholz S, Singleton A. Susceptibility genes in movement disorders. Movement Disorders : Official Journal of the Movement Disorder Society. 23: 927-34; quiz 1064. PMID 18311830 DOI: 10.1002/Mds.21983  0.22
2016 Dong J, Wyss A, Yang J, Price TR, Nicolas A, Nalls M, Tranah G, Franceschini N, Xu Z, Schulte C, Alonso A, Cummings SR, Fornage M, Zaykin D, Li L, ... ... Singleton AB, et al. Genome-Wide Association Analysis of the Sense of Smell in U.S. Older Adults: Identification of Novel Risk Loci in African-Americans and European-Americans. Molecular Neurobiology. PMID 27878761 DOI: 10.1007/S12035-016-0282-8  0.22
2005 Hernandez DG, Paisán-Ruíz C, McInerney-Leo A, Jain S, Meyer-Lindenberg A, Evans EW, Berman KF, Johnson J, Auburger G, Schäffer AA, Lopez GJ, Nussbaum RL, Singleton AB. Clinical and positron emission tomography of Parkinson's disease caused by LRRK2. Annals of Neurology. 57: 453-6. PMID 15732108 DOI: 10.1002/ana.20401  0.219
2013 Crosslin DR, McDavid A, Weston N, Zheng X, Hart E, de Andrade M, Kullo IJ, McCarty CA, Doheny KF, Pugh E, Kho A, Hayes MG, Ritchie MD, Saip A, Crawford DC, ... ... Singleton AB, et al. Genetic variation associated with circulating monocyte count in the eMERGE Network. Human Molecular Genetics. 22: 2119-27. PMID 23314186 DOI: 10.1093/Hmg/Ddt010  0.219
2010 Guerreiro RJ, Baquero M, Blesa R, Boada M, Brás JM, Bullido MJ, Calado A, Crook R, Ferreira C, Frank A, Gómez-Isla T, Hernández I, Lleó A, Machado A, Martínez-Lage P, ... ... Singleton A, et al. Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP. Neurobiology of Aging. 31: 725-31. PMID 18667258 DOI: 10.1016/J.Neurobiolaging.2008.06.012  0.219
2015 Jansen IE, Bras JM, Lesage S, Schulte C, Gibbs JR, Nalls MA, Brice A, Wood NW, Morris H, Hardy JA, Singleton AB, Gasser T, Heutink P, Sharma M. CHCHD2 and Parkinson's disease. The Lancet. Neurology. 14: 678-9. PMID 26067110 DOI: 10.1016/S1474-4422(15)00094-0  0.218
2009 Guerreiro RJ, Vaskov T, Crews C, Singleton A, Hardy J. A case of dementia with PRNP D178Ncis-129M and no insomnia. Alzheimer Disease and Associated Disorders. 23: 415-7. PMID 19571725 DOI: 10.1097/Wad.0B013E3181Ae3A76  0.218
2021 Iwaki H, Leonard HL, Makarious MB, Bookman M, Landin B, Vismer D, Casey B, Gibbs JR, Hernandez DG, Blauwendraat C, Vitale D, Song Y, Kumar D, Dalgard CL, Sadeghi M, ... ... Singleton AB, et al. Accelerating Medicines Partnership: Parkinson's Disease. Genetic Resource. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 33960523 DOI: 10.1002/mds.28549  0.218
2010 Corneveaux JJ, Myers AJ, Allen AN, Pruzin JJ, Ramirez M, Engel A, Nalls MA, Chen K, Lee W, Chewning K, Villa SE, Meechoovet HB, Gerber JD, Frost D, Benson HL, ... ... Singleton AB, et al. Association of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals. Human Molecular Genetics. 19: 3295-301. PMID 20534741 DOI: 10.1093/Hmg/Ddq221  0.217
2016 Hopfner F, Haubenberger D, Galpern WR, Gwinn K, Van't Veer A, White S, Bhatia K, Adler CH, Eidelberg D, Ondo W, Stebbins GT, Tanner CM, Helmich RC, Lenz FA, Sillitoe RV, ... ... Singleton A, et al. Knowledge gaps and research recommendations for essential tremor. Parkinsonism & Related Disorders. PMID 27769649 DOI: 10.1016/J.Parkreldis.2016.10.002  0.217
2005 Clarimon J, Johnson J, Djaldetti R, Hernandez D, Hattori N, Sroka H, Barhom Y, Singleton A. Mutation of the Parkin gene in a Persian family: clinical progression over a 40-year period. Movement Disorders. 20: 887-890. PMID 15852366 DOI: 10.1002/Mds.20495  0.217
2013 Bettencourt C, Morris HR, Singleton AB, Hardy J, Houlden H. Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment. Journal of Neurology. 260: 2414-6. PMID 23881105 DOI: 10.1007/S00415-013-7044-6  0.216
2020 Iwaki H, Blauwendraat C, Makarious MB, Bandrés-Ciga S, Leonard HL, Gibbs JR, Hernandez DG, Scholz SW, Faghri F, Nalls MA, Singleton AB. Penetrance of Parkinson's Disease in LRRK2 p.G2019S Carriers Is Modified by a Polygenic Risk Score. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 31958187 DOI: 10.1002/Mds.27974  0.216
2016 Sassi C, Nalls MA, Ridge PG, Gibbs JR, Ding J, Lupton MK, Troakes C, Lunnon K, Al-Sarraj S, Brown KS, Medway C, Clement N, Lord J, Turton J, Bras J, ... ... Singleton AB, et al. ABCA7 p.G215S as potential protective factor for Alzheimer's disease. Neurobiology of Aging. PMID 27289440 DOI: 10.1016/J.Neurobiolaging.2016.04.004  0.216
2017 Hibar DP, Adams HH, Jahanshad N, Chauhan G, Stein JL, Hofer E, Renteria ME, Bis JC, Arias-Vasquez A, Ikram MK, Desrivières S, Vernooij MW, Abramovic L, Alhusaini S, Amin N, ... ... Singleton A, et al. Novel genetic loci associated with hippocampal volume. Nature Communications. 8: 13624. PMID 28098162 DOI: 10.1038/Ncomms13624  0.215
2012 Gao J, Nalls M, Shi M, Joubert B, Hernandez D, Huang X, Hollenbeck A, Singleton A, Chen H. An Exploratory Analysis on Gene-Environment Interactions for Parkinson Disease (PD4.003) Neurology. 78: PD4.003-PD4.003. DOI: 10.1212/Wnl.78.1_Meetingabstracts.Pd4.003  0.215
2000 Hardy J, Singleton A. The future of genetic analysis of neurological disorders Neurobiology of Disease. 7: 65-69. PMID 10783291 DOI: 10.1006/Nbdi.2000.0291  0.214
2005 Khan NL, Horta W, Eunson L, Graham E, Johnson JO, Chang S, Davis M, Singleton A, Wood NW, Lees AJ. Parkin disease in a Brazilian kindred: Manifesting heterozygotes and clinical follow-up over 10 years. Movement Disorders : Official Journal of the Movement Disorder Society. 20: 479-84. PMID 15641013 DOI: 10.1002/Mds.20335  0.214
2020 Bandres-Ciga S, Blauwendraat C, Singleton AB. Assessment of Genetic Association Between Parkinson Disease and Bipolar Disorder. Jama Neurology. PMID 32391853 DOI: 10.1001/jamaneurol.2020.0248  0.213
2009 Harold D, Abraham R, Hollingworth P, Sims R, Gerrish A, Hamshere ML, Pahwa JS, Moskvina V, Dowzell K, Williams A, Jones N, Thomas C, Stretton A, Morgan AR, Lovestone S, ... ... Singleton AB, et al. Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nature Genetics. 41: 1088-93. PMID 19734902 DOI: 10.1038/Ng.440  0.213
2004 Singleton A, Gwinn-Hardy K, Sharabi Y, Li ST, Holmes C, Dendi R, Hardy J, Singleton A, Crawley A, Goldstein DS. Association between cardiac denervation and parkinsonism caused by alpha-synuclein gene triplication. Brain : a Journal of Neurology. 127: 768-72. PMID 14736756 DOI: 10.1093/Brain/Awh081  0.212
2007 Hardy J, Singleton A. Reporting and interpretation of genetic variants in cases and controls. Neurology. 69: 111-2. PMID 17606889 DOI: 10.1212/01.Wnl.0000265059.56575.A6  0.212
2016 Kang JH, Mollenhauer B, Coffey CS, Toledo JB, Weintraub D, Galasko DR, Irwin DJ, Van Deerlin V, Chen-Plotkin AS, Caspell-Garcia C, Waligórska T, Taylor P, Shah N, Pan S, Zero P, ... ... Singleton A, et al. CSF biomarkers associated with disease heterogeneity in early Parkinson's disease: the Parkinson's Progression Markers Initiative study. Acta Neuropathologica. PMID 27021906 DOI: 10.1007/S00401-016-1552-2  0.211
2013 Hammer MB, Eleuch-Fayache G, Schottlaender LV, Nehdi H, Gibbs JR, Arepalli SK, Chong SB, Hernandez DG, Sailer A, Liu G, Mistry PK, Cai H, Shrader G, Sassi C, Bouhlal Y, ... ... Singleton AB, et al. Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity. American Journal of Human Genetics. 92: 245-51. PMID 23332917 DOI: 10.1016/J.Ajhg.2012.12.012  0.211
2012 Butler AM, Yin X, Evans DS, Nalls MA, Smith EN, Tanaka T, Li G, Buxbaum SG, Whitsel EA, Alonso A, Arking DE, Benjamin EJ, Berenson GS, Bis JC, Chen W, ... ... Singleton AB, et al. Novel loci associated with PR interval in a genome-wide association study of 10 African American cohorts. Circulation. Cardiovascular Genetics. 5: 639-46. PMID 23139255 DOI: 10.1161/Circgenetics.112.963991  0.211
2013 Chen Z, Tang H, Qayyum R, Schick UM, Nalls MA, Handsaker R, Li J, Lu Y, Yanek LR, Keating B, Meng Y, van Rooij FJ, Okada Y, Kubo M, Rasmussen-Torvik L, ... ... Singleton AB, et al. Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network. Human Molecular Genetics. 22: 2529-38. PMID 23446634 DOI: 10.1093/Hmg/Ddt087  0.211
2018 Ridge PG, Karch CM, Hsu S, Arano I, Teerlink CC, Ebbert MTW, Murcia JDG, Farnham JM, Damato AR, Allen M, Wang X, Harari O, Fernandez VM, Guerreiro R, Bras J, ... ... Singleton A, et al. Correction to: Linkage, whole genome sequence, and biological data implicate variants in RAB10 in Alzheimer's disease resilience. Genome Medicine. 10: 4. PMID 29329552 DOI: 10.1186/S13073-018-0516-7  0.211
2013 Hudson G, Nalls M, Evans JR, Breen DP, Winder-Rhodes S, Morrison KE, Morris HR, Williams-Gray CH, Barker RA, Singleton AB, Hardy J, Wood NE, Burn DJ, Chinnery PF. Two-stage association study and meta-analysis of mitochondrial DNA variants in Parkinson disease. Neurology. 80: 2042-8. PMID 23645593 DOI: 10.1212/Wnl.0B013E318294B434  0.21
2017 Noyce AJ, Kia DA, Hemani G, Nicolas A, Price TR, De Pablo-Fernandez E, Haycock PC, Lewis PA, Foltynie T, Davey Smith G, Schrag A, Lees AJ, Hardy J, Singleton A, et al. Estimating the causal influence of body mass index on risk of Parkinson disease: A Mendelian randomisation study. Plos Medicine. 14: e1002314. PMID 28609445 DOI: 10.1371/Journal.Pmed.1002314  0.21
2013 Wood AR, Perry JR, Tanaka T, Hernandez DG, Zheng HF, Melzer D, Gibbs JR, Nalls MA, Weedon MN, Spector TD, Richards JB, Bandinelli S, Ferrucci L, Singleton AB, Frayling TM. Imputation of variants from the 1000 Genomes Project modestly improves known associations and can identify low-frequency variant-phenotype associations undetected by HapMap based imputation. Plos One. 8: e64343. PMID 23696881 DOI: 10.1371/Journal.Pone.0064343  0.21
2009 Bronstein J, Carvey P, Chen H, Cory-Slechta D, DiMonte D, Duda J, English P, Goldman S, Grate S, Hansen J, Hoppin J, Jewell S, Kamel F, Koroshetz W, Langston JW, ... ... Singleton A, et al. Meeting report: consensus statement-Parkinson's disease and the environment: collaborative on health and the environment and Parkinson's Action Network (CHE PAN) conference 26-28 June 2007. Environmental Health Perspectives. 117: 117-21. PMID 19165397 DOI: 10.1289/Ehp.11702  0.21
2010 van de Leemput J, Wavrant-De Vrièze F, Rafferty I, Bras JM, Giunti P, Fisher EM, Hardy JA, Singleton AB, Houlden H. Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia series. Movement Disorders : Official Journal of the Movement Disorder Society. 25: 771-3. PMID 20437544 DOI: 10.1002/Mds.22970  0.21
2018 Mäkelä M, Kaivola K, Valori M, Paetau A, Polvikoski T, Singleton AB, Traynor BJ, Stone DJ, Peuralinna T, Tienari PJ, Tanskanen M, Myllykangas L. Alzheimer risk loci and associated neuropathology in a population-based study (Vantaa 85+). Neurology. Genetics. 4: e211. PMID 29379882 DOI: 10.1212/Nxg.0000000000000211  0.21
2014 Keller MF, Reiner AP, Okada Y, van Rooij FJ, Johnson AD, Chen MH, Smith AV, Morris AP, Tanaka T, Ferrucci L, Zonderman AB, Lettre G, Harris T, Garcia M, Bandinelli S, ... ... Singleton AB, et al. Trans-ethnic meta-analysis of white blood cell phenotypes. Human Molecular Genetics. 23: 6944-60. PMID 25096241 DOI: 10.1093/hmg/ddu401  0.209
2013 Bernal-Pacheco O, Oyama G, Briton A, Singleton AB, Fernandez HH, Rodriguez RL, Malaty IA, Okun MS. A Novel DYT-5 Mutation with Phenotypic Variability within a Colombian Family. Tremor and Other Hyperkinetic Movements (New York, N.Y.). 3. PMID 24255805 DOI: 10.7916/D86W98Sw  0.209
2006 Gibbs JR, Singleton A. Application of genome-wide single nucleotide polymorphism typing: simple association and beyond. Plos Genetics. 2: e150. PMID 17029559 DOI: 10.1371/Journal.Pgen.0020150  0.209
2001 Singleton AB, Gibson AM, McKeith IG, Ballard CG, Edwardson JA, Morris CM. Nitric oxide synthase gene polymorphisms in Alzheimer's disease and dementia with Lewy bodies. Neuroscience Letters. 303: 33-6. PMID 11297817 DOI: 10.1016/S0304-3940(01)01694-9  0.209
2016 Boeve BF, Dickson DW, Duda JE, Ferman TJ, Galasko DR, Galvin JE, Goldman JG, Growdon JH, Hurtig HI, Kaufer DI, Kantarci K, Leverenz JB, Lippa CF, Lopez OL, McKeith IG, ... Singleton AB, et al. Arguing against the proposed definition changes of PD. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 27492190 DOI: 10.1002/Mds.26721  0.208
2015 Wood AR, Tuke MA, Nalls M, Hernandez D, Gibbs JR, Lin H, Xu CS, Li Q, Shen J, Jun G, Almeida M, Tanaka T, Perry JR, Gaulton K, Rivas M, ... ... Singleton A, et al. Whole-genome sequencing to understand the genetic architecture of common gene expression and biomarker phenotypes. Human Molecular Genetics. 24: 1504-12. PMID 25378555 DOI: 10.1093/Hmg/Ddu560  0.207
2018 Patel T, Brookes KJ, Guetta-Baranes T, Chaudhury SR, Turton J, Hernandez D, Singleton A, Hardy J, Guerreiro R, Francis PT, Bras JT, Morgan K. P1-168: Linking Polygenic Risk Scores To Alzheimer'S Disease Genes Alzheimers & Dementia. 14. DOI: 10.1016/J.Jalz.2018.06.172  0.207
2018 Chen-Plotkin AS, Albin R, Alcalay R, Babcock D, Bajaj V, Bowman D, Buko A, Cedarbaum J, Chelsky D, Cookson MR, Dawson TM, Dewey R, Foroud T, Frasier M, German D, ... Singleton A, et al. Finding useful biomarkers for Parkinson's disease. Science Translational Medicine. 10. PMID 30111645 DOI: 10.1126/Scitranslmed.Aam6003  0.207
2008 Melzer D, Perry JR, Hernandez D, Corsi AM, Stevens K, Rafferty I, Lauretani F, Murray A, Gibbs JR, Paolisso G, Rafiq S, Simon-Sanchez J, Lango H, Scholz S, Weedon MN, ... ... Singleton A, et al. A genome-wide association study identifies protein quantitative trait loci (pQTLs). Plos Genetics. 4: e1000072. PMID 18464913 DOI: 10.1371/Journal.Pgen.1000072  0.207
2013 Anderson CD, Biffi A, Nalls MA, Devan WJ, Schwab K, Ayres AM, Valant V, Ross OA, Rost NS, Saxena R, Viswanathan A, Worrall BB, Brott TG, Goldstein JN, Brown D, ... ... Singleton AB, et al. Common variants within oxidative phosphorylation genes influence risk of ischemic stroke and intracerebral hemorrhage. Stroke; a Journal of Cerebral Circulation. 44: 612-9. PMID 23362085 DOI: 10.1161/Strokeaha.112.672089  0.207
2010 Jones L, Holmans PA, Hamshere ML, Harold D, Moskvina V, Ivanov D, Pocklington A, Abraham R, Hollingworth P, Sims R, Gerrish A, Pahwa JS, Jones N, Stretton A, Morgan AR, ... ... Singleton AB, et al. Genetic evidence implicates the immune system and cholesterol metabolism in the aetiology of Alzheimer's disease. Plos One. 5: e13950. PMID 21085570 DOI: 10.1371/Journal.Pone.0013950  0.207
2012 Johnson JO, Gibbs JR, Megarbane A, Urtizberea JA, Hernandez DG, Foley AR, Arepalli S, Pandraud A, Simón-Sánchez J, Clayton P, Reilly MM, Muntoni F, Abramzon Y, Houlden H, Singleton AB. Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease. Brain : a Journal of Neurology. 135: 2875-82. PMID 22740598 DOI: 10.1093/brain/aws161  0.207
2011 Singleton AB. VPS35: A new player in Parkinson's disease. Movement Disorders : Official Journal of the Movement Disorder Society. 26: 1803. PMID 25429190 DOI: 10.1002/mds.23916  0.207
2016 Mok KY, Sheerin U, Simón-Sánchez J, Salaka A, Chester L, Escott-Price V, Mantripragada K, Doherty KM, Noyce AJ, Mencacci NE, Lubbe SJ, Williams-Gray CH, Barker RA, van Dijk KD, ... ... Singleton AB, et al. Deletions at 22q11.2 in idiopathic Parkinson's disease: a combined analysis of genome-wide association data. The Lancet. Neurology. PMID 27017469 DOI: 10.1016/S1474-4422(16)00071-5  0.206
2018 Coutelier M, Hammer MB, Stevanin G, Monin ML, Davoine CS, Mochel F, Labauge P, Ewenczyk C, Ding J, Gibbs JR, Hannequin D, Melki J, Toutain A, Laugel V, Forlani S, ... ... Singleton A, et al. Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes. Jama Neurology. PMID 29482223 DOI: 10.1001/Jamaneurol.2017.5121  0.206
2019 Noyce AJ, Bandres-Ciga S, Kim J, Heilbron K, Kia D, Hemani G, Xue A, Lawlor DA, Smith GD, Duran R, Gan-Or Z, Blauwendraat C, Gibbs JR, Hinds DA, ... ... Singleton AB, et al. The Parkinson's Disease Mendelian Randomization Research Portal. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 31659794 DOI: 10.1002/mds.27873  0.206
2015 Ferrari R, Grassi M, Salvi E, Borroni B, Palluzzi F, Pepe D, D'Avila F, Padovani A, Archetti S, Rainero I, Rubino E, Pinessi L, Benussi L, Binetti G, Ghidoni R, ... ... Singleton A, et al. A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia Neurobiology of Aging. DOI: 10.1016/j.neurobiolaging.2015.06.005  0.206
2014 Bihlmeyer NA, Brody JA, Smith AV, Lunetta KL, Nalls M, Smith JA, Tanaka T, Davies G, Yu L, Mirza SS, Teumer A, Coresh J, Pankow JS, Franceschini N, Scaria A, ... ... Singleton AB, et al. Genetic diversity is a predictor of mortality in humans. Bmc Genetics. 15: 159. PMID 25543667 DOI: 10.1186/S12863-014-0159-7  0.205
2013 Tucci A, Kara E, Schossig A, Wolf NI, Plagnol V, Fawcett K, Paisán-Ruiz C, Moore M, Hernandez D, Musumeci S, Tennison M, Hennekam R, Palmeri S, Malandrini A, Raskin S, ... ... Singleton A, et al. Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity. Human Mutation. 34: 296-300. PMID 23086778 DOI: 10.1002/Humu.22241  0.205
2009 Matarin M, Brown WM, Dena H, Britton A, De Vrieze FW, Brott TG, Brown RD, Worrall BB, Case LD, Chanock SJ, Metter EJ, Ferruci L, Gamble D, Hardy JA, Rich SS, ... Singleton A, et al. Candidate gene polymorphisms for ischemic stroke. Stroke; a Journal of Cerebral Circulation. 40: 3436-42. PMID 19729601 DOI: 10.1161/Strokeaha.109.558015  0.205
2011 Wood AR, Hernandez DG, Nalls MA, Yaghootkar H, Gibbs JR, Harries LW, Chong S, Moore M, Weedon MN, Guralnik JM, Bandinelli S, Murray A, Ferrucci L, Singleton AB, Melzer D, et al. Allelic heterogeneity and more detailed analyses of known loci explain additional phenotypic variation and reveal complex patterns of association. Human Molecular Genetics. 20: 4082-92. PMID 21798870 DOI: 10.1093/Hmg/Ddr328  0.204
2016 Guven G, Lohmann E, Bras J, Gibbs JR, Gurvit H, Bilgic B, Hanagasi H, Rizzu P, Heutink P, Emre M, Erginel-Unaltuna N, Just W, Hardy J, Singleton A, Guerreiro R. Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients. Plos One. 11: e0162592. PMID 27632209 DOI: 10.1371/Journal.Pone.0162592  0.204
2015 Lubbe SJ, Escott-Price V, Brice A, Gasser T, Hardy J, Heutink P, Sharma M, Wood NW, Nalls M, Singleton AB, Williams NM, Morris HR. Is the MC1R variant p.R160W associated with Parkinson's? Annals of Neurology. PMID 26389967 DOI: 10.1002/Ana.24527  0.204
2005 Martinez M, Brice A, Vaughan JR, Zimprich A, Breteler MM, Meco G, Filla A, Farrer MJ, Bétard C, Singleton A, Hardy J, De Michele G, Bonifati V, Oostra BA, Gasser T, et al. Apolipoprotein E4 is probably responsible for the chromosome 19 linkage peak for Parkinson's disease. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 136: 72-4. PMID 15924299 DOI: 10.1002/Ajmg.B.30196  0.203
2013 Tanaka T, Ngwa JS, van Rooij FJ, Zillikens MC, Wojczynski MK, Frazier-Wood AC, Houston DK, Kanoni S, Lemaitre RN, Luan J, Mikkilä V, Renstrom F, Sonestedt E, Zhao JH, Chu AY, ... ... Singleton A, et al. Genome-wide meta-analysis of observational studies shows common genetic variants associated with macronutrient intake. The American Journal of Clinical Nutrition. 97: 1395-402. PMID 23636237 DOI: 10.3945/Ajcn.112.052183  0.203
2019 Diez-Fairen M, Bandres-Ciga S, Houle G, Nalls MA, Girard SL, Dion PA, Blauwendraat C, Singleton AB, Rouleau GA, Pastor P. Genome-wide estimates of heritability and genetic correlations in essential tremor. Parkinsonism & Related Disorders. PMID 31085086 DOI: 10.1016/J.Parkreldis.2019.05.002  0.202
2018 Kia DA, Noyce AJ, White J, Speed D, Nicolas A, Burgess S, Lawlor DA, Davey Smith G, Singleton A, Nalls MA, Sofat R, Wood NW. Mendelian randomization study shows no causal relationship between circulating urate levels and Parkinson's disease. Annals of Neurology. PMID 30014513 DOI: 10.1002/Ana.25294  0.202
2019 Kunkle BW, Grenier-Boley B, Sims R, Bis JC, Damotte V, Naj AC, Boland A, Vronskaya M, van der Lee SJ, Amlie-Wolf A, Bellenguez C, Frizatti A, Chouraki V, Martin ER, Sleegers K, ... Singleton AB, et al. Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing. Nature Genetics. PMID 31417202 DOI: 10.1038/s41588-019-0495-7  0.202
2016 Kauwe K, Arano I, Bras JT, Cannon-Albright L, Cruchaga C, Goate AM, Murcia JDG, Guerreiro R, Hardy J, Hsu S, Karch C, Munger RG, Norton MC, Ridge PG, Sassi C, ... Singleton A, et al. Linkage And Whole Genome Sequence Analysis Of Alzheimer'S Disease Resilience And Risk Alzheimers & Dementia. 12: 675. DOI: 10.1016/J.Jalz.2016.06.1325  0.201
2004 Johnson J, Ostojic J, Lannfelt L, Glaser A, Basun H, Rogaeva E, Kawarai T, Bruni A, St George Hyslop PH, Goate A, Pastor P, Chakraverty S, Norton J, Morris JC, Hardy J, ... Singleton A, et al. No evidence for tau duplications in frontal temporal dementia families showing genetic linkage to the tau locus in which tau mutations have not been found. Neuroscience Letters. 363: 99-101. PMID 15172093 DOI: 10.1016/J.Neulet.2004.03.070  0.201
2021 Ramos DM, Skarnes WC, Singleton AB, Cookson MR, Ward ME. Tackling neurodegenerative diseases with genomic engineering: A new stem cell initiative from the NIH. Neuron. 109: 1080-1083. PMID 33831364 DOI: 10.1016/j.neuron.2021.03.022  0.201
2011 Pearson JP, Williams NM, Majounie E, Waite A, Stott J, Newsway V, Murray A, Hernandez D, Guerreiro R, Singleton AB, Neal J, Morris HR. Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p. Journal of Neurology. 258: 647-55. PMID 21072532 DOI: 10.1007/S00415-010-5815-X  0.2
2014 Singleton AB. Genetics. A unified process for neurological disease. Science (New York, N.Y.). 343: 497-8. PMID 24482474 DOI: 10.1126/science.1250172  0.2
2017 Ridge PG, Karch CM, Hsu S, Arano I, Teerlink CC, Ebbert MTW, Gonzalez Murcia JD, Farnham JM, Damato AR, Allen M, Wang X, Harari O, Fernandez VM, Guerreiro R, Bras J, ... ... Singleton A, et al. Linkage, whole genome sequence, and biological data implicate variants in RAB10 in Alzheimer's disease resilience. Genome Medicine. 9: 100. PMID 29183403 DOI: 10.1186/S13073-017-0486-1  0.2
2012 Smith JG, Avery CL, Evans DS, Nalls MA, Meng YA, Smith EN, Palmer C, Tanaka T, Mehra R, Butler AM, Young T, Buxbaum SG, Kerr KF, Berenson GS, Schnabel RB, ... ... Singleton AB, et al. Impact of ancestry and common genetic variants on QT interval in African Americans. Circulation. Cardiovascular Genetics. 5: 647-55. PMID 23166209 DOI: 10.1161/Circgenetics.112.962787  0.199
2017 Mollenhauer B, Caspell-Garcia CJ, Coffey CS, Taylor P, Shaw LM, Trojanowski JQ, Singleton A, Frasier M, Marek K, Galasko D. Longitudinal CSF biomarkers in patients with early Parkinson disease and healthy controls. Neurology. PMID 29030452 DOI: 10.1212/Wnl.0000000000004609  0.199
2013 Singleton AB. Finding risk in all the right places. Neuron. 78: 207-8. PMID 23622057 DOI: 10.1016/j.neuron.2013.04.011  0.199
2012 Hernandez DG, Nalls MA, Moore M, Chong S, Dillman A, Trabzuni D, Gibbs JR, Ryten M, Arepalli S, Weale ME, Zonderman AB, Troncoso J, O'Brien R, Walker R, Smith C, ... ... Singleton AB, et al. Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain. Neurobiology of Disease. 47: 20-8. PMID 22433082 DOI: 10.1016/J.Nbd.2012.03.020  0.199
2017 Roosen DA, Singleton AB. Leucine rich repeat kinase knockout (LRRK KO) mouse model: Linking pathological hallmarks of inherited and sporadic Parkinson's disease. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 29265552 DOI: 10.1002/mds.27267  0.198
2011 Marek K, Jennings D, Lasch S, Siderowf A, Tanner C, Simuni T, Coffey C, Kieburtz K, Flagg E, Chowdhury S, Poewe W, Mollenhauer B, Sherer T, Frasier M, Meunier C, ... ... Singleton A, et al. The Parkinson Progression Marker Initiative (PPMI) Progress in Neurobiology. 95: 629-635. PMID 21930184 DOI: 10.1016/J.Pneurobio.2011.09.005  0.197
2014 Ng MC, Shriner D, Chen BH, Li J, Chen WM, Guo X, Liu J, Bielinski SJ, Yanek LR, Nalls MA, Comeau ME, Rasmussen-Torvik LJ, Jensen RA, Evans DS, Sun YV, ... ... Singleton AB, et al. Meta-analysis of genome-wide association studies in African Americans provides insights into the genetic architecture of type 2 diabetes. Plos Genetics. 10: e1004517. PMID 25102180 DOI: 10.1371/Journal.Pgen.1004517  0.196
2013 Deo R, Nalls MA, Avery CL, Smith JG, Evans DS, Keller MF, Butler AM, Buxbaum SG, Li G, Miguel Quibrera P, Smith EN, Tanaka T, Akylbekova EL, Alonso A, Arking DE, ... ... Singleton AB, et al. Common genetic variation near the connexin-43 gene is associated with resting heart rate in African Americans: a genome-wide association study of 13,372 participants. Heart Rhythm : the Official Journal of the Heart Rhythm Society. 10: 401-8. PMID 23183192 DOI: 10.1016/J.Hrthm.2012.11.014  0.196
2017 Chaudhury SR, Patel T, Barber I, Guetta-Baranes T, Brookes KJ, Chappell S, Guerreiro R, Bras JT, Hernandez D, Singleton A, Hardy J, Mann DM, Morgan K. [P3-110]: CALCULATING POLYGENIC RISK FOR INDIVIDUALS WITH SPORADIC EARLY ONSET ALZHEIMER's DISEASE Alzheimer's & Dementia. 13: P976-P977. DOI: 10.1016/j.jalz.2017.06.1321  0.196
2012 Trabzuni D, Wray S, Vandrovcova J, Ramasamy A, Walker R, Smith C, Luk C, Gibbs JR, Dillman A, Hernandez DG, Arepalli S, Singleton AB, Cookson MR, Pittman AM, de Silva R, et al. MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies. Human Molecular Genetics. 21: 4094-103. PMID 22723018 DOI: 10.1093/Hmg/Dds238  0.195
2014 Tucci A, Liu YT, Preza E, Pitceathly RD, Chalasani A, Plagnol V, Land JM, Trabzuni D, Ryten M, Jaunmuktane Z, Reilly MM, Brandner S, Hargreaves I, Hardy J, ... Singleton AB, et al. Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy. Journal of Neurology, Neurosurgery, and Psychiatry. 85: 486-92. PMID 24198383 DOI: 10.1136/Jnnp-2013-306387  0.195
2011 N'Diaye A, Chen GK, Palmer CD, Ge B, Tayo B, Mathias RA, Ding J, Nalls MA, Adeyemo A, Adoue V, Ambrosone CB, Atwood L, Bandera EV, Becker LC, Berndt SI, ... ... Singleton AB, et al. Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry. Plos Genetics. 7: e1002298. PMID 21998595 DOI: 10.1371/Journal.Pgen.1002298  0.195
2011 Peuralinna T, Tanskanen M, Mäkelä M, Polvikoski T, Paetau A, Kalimo H, Sulkava R, Hardy J, Lai SL, Arepalli S, Hernandez D, Traynor BJ, Singleton A, Tienari PJ, Myllykangas L. APOE and AβPP gene variation in cortical and cerebrovascular amyloid-β pathology and Alzheimer's disease: a population-based analysis. Journal of Alzheimer's Disease : Jad. 26: 377-85. PMID 21654062 DOI: 10.3233/Jad-2011-102049  0.194
2007 Low N, Singleton A. Establishing the genetic heterogeneity of familial hemiplegic migraine. Brain : a Journal of Neurology. 130: 312-3. PMID 17235123 DOI: 10.1093/Brain/Awl381  0.194
2008 Guerreiro RJ, Santana I, Bras JM, Revesz T, Rebelo O, Ribeiro MH, Santiago B, Oliveira CR, Singleton A, Hardy J. Novel progranulin mutation: screening for PGRN mutations in a Portuguese series of FTD/CBS cases. Movement Disorders : Official Journal of the Movement Disorder Society. 23: 1269-73. PMID 18464284 DOI: 10.1002/Mds.22078  0.192
2002 Evidente VG, Advincula J, Esteban R, Pasco P, Alfon JA, Natividad FF, Cuanang J, Luis AS, Gwinn-Hardy K, Hardy J, Hernandez D, Singleton A. Phenomenology of "Lubag" or X-linked dystonia-parkinsonism. Movement Disorders : Official Journal of the Movement Disorder Society. 17: 1271-7. PMID 12465067 DOI: 10.1002/Mds.10271  0.192
2008 Matarin M, Simon-Sanchez J, Fung HC, Scholz S, Gibbs JR, Hernandez DG, Crews C, Britton A, De Vrieze FW, Brott TG, Brown RD, Worrall BB, Silliman S, Case LD, Hardy JA, ... ... Singleton AB, et al. Structural genomic variation in ischemic stroke. Neurogenetics. 9: 101-8. PMID 18288507 DOI: 10.1007/s10048-008-0119-3  0.192
2019 Guo L, Bertola DR, Takanohashi A, Saito A, Segawa Y, Yokota T, Ishibashi S, Nishida Y, Yamamoto GL, Franco JFDS, Honjo RS, Kim CA, Musso CM, Timmons M, Pizzino A, ... ... Singleton AB, et al. Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation. American Journal of Human Genetics. PMID 30982609 DOI: 10.1016/J.Ajhg.2019.03.004  0.191
2014 Kara E, Kiely AP, Proukakis C, Giffin N, Love S, Hehir J, Rantell K, Pandraud A, Hernandez DG, Nacheva E, Pittman AM, Nalls MA, Singleton AB, Revesz T, Bhatia KP, et al. A 6.4 Mb duplication of the α-synuclein locus causing frontotemporal dementia and Parkinsonism: phenotype-genotype correlations. Jama Neurology. 71: 1162-71. PMID 25003242 DOI: 10.1001/Jamaneurol.2014.994  0.191
2014 Ramasamy A, Trabzuni D, Guelfi S, Varghese V, Smith C, Walker R, De T, Coin L, de Silva R, Cookson MR, Singleton AB, Hardy J, Ryten M, et al. Genetic variability in the regulation of gene expression in ten regions of the human brain. Nature Neuroscience. 17: 1418-28. PMID 25174004 DOI: 10.1038/Nn.3801  0.191
2015 Singleton A. X-linked Parkinson's disease. Movement Disorders : Official Journal of the Movement Disorder Society. 30: 196. PMID 25641059 DOI: 10.1002/Mds.26131  0.19
2016 Sailer A, Scholz SW, Nalls MA, Schulte C, Federoff M, Price TR, Lees A, Ross OA, Dickson DW, Mok K, Mencacci NE, Schottlaender L, Chelban V, Ling H, O'Sullivan SS, ... ... Singleton AB, et al. A genome-wide association study in multiple system atrophy. Neurology. PMID 27629089 DOI: 10.1212/Wnl.0000000000003221  0.19
2011 Hollingworth P, Harold D, Sims R, Gerrish A, Lambert JC, Carrasquillo MM, Abraham R, Hamshere ML, Pahwa JS, Moskvina V, Dowzell K, Jones N, Stretton A, Thomas C, Richards A, ... ... Singleton AB, et al. Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nature Genetics. 43: 429-35. PMID 21460840 DOI: 10.1038/Ng.803  0.189
2020 Simuni T, Brumm MC, Uribe L, Caspell-Garcia C, Coffey CS, Siderowf A, Alcalay R, Trojanowski JQ, Shaw LM, Seibyl J, Singleton A, Toga AW, Galasko D, Foroud T, Nudelman K, et al. Clinical and Dopamine Transporter Imaging Characteristics of Leucine- Rich Repeat Kinase 2 (LRRK2) and Glucosylceramidase Beta (GBA) Parkinson's Disease Participants in the Parkinson's Progression Markers Initiative: A Cross-Sectional Study. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 32073681 DOI: 10.1002/Mds.27989  0.188
2011 Nalls MA, Couper DJ, Tanaka T, van Rooij FJ, Chen MH, Smith AV, Toniolo D, Zakai NA, Yang Q, Greinacher A, Wood AR, Garcia M, Gasparini P, Liu Y, Lumley T, ... ... Singleton AB, et al. Multiple loci are associated with white blood cell phenotypes. Plos Genetics. 7: e1002113. PMID 21738480 DOI: 10.1371/Journal.Pgen.1002113  0.188
2009 Ganesh SK, Zakai NA, van Rooij FJ, Soranzo N, Smith AV, Nalls MA, Chen MH, Kottgen A, Glazer NL, Dehghan A, Kuhnel B, Aspelund T, Yang Q, Tanaka T, Jaffe A, ... ... Singleton AB, et al. Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. Nature Genetics. 41: 1191-8. PMID 19862010 DOI: 10.1038/Ng.466  0.188
2015 Singleton A. A new gene for Parkinson's disease: should we care? The Lancet. Neurology. 14: 238-9. PMID 25728432 DOI: 10.1016/S1474-4422(14)70270-4  0.187
2009 Paisan-Ruiz C, Bhatia KP, Li A, Hernandez D, Davis M, Wood NW, Hardy J, Houlden H, Singleton A, Schneider SA. Characterization of PLA2G6 as a locus for dystonia-parkinsonism. Annals of Neurology. 65: 19-23. PMID 18570303 DOI: 10.1002/Ana.21415  0.187
2014 Singleton A. Lrrk2 And Parkinson’S Disease Alzheimers & Dementia. 10: 157. DOI: 10.1016/J.Jalz.2014.04.135  0.187
2017 Blauwendraat C, Bandrés-Ciga S, Singleton AB. Predicting progression in patients with Parkinson's disease. The Lancet. Neurology. PMID 28958800 DOI: 10.1016/S1474-4422(17)30331-9  0.187
2015 Peuralinna T, Myllykangas L, Oinas M, Nalls MA, Keage HA, Isoviita VM, Valori M, Polvikoski T, Paetau A, Sulkava R, Ince PG, Zaccai J, Brayne C, Traynor BJ, Hardy J, ... Singleton AB, et al. Genome-wide association study of neocortical Lewy-related pathology. Annals of Clinical and Translational Neurology. 2: 920-31. PMID 26401513 DOI: 10.1002/Acn3.231  0.187
2009 Nalls MA, Simon-Sanchez J, Gibbs JR, Paisan-Ruiz C, Bras JT, Tanaka T, Matarin M, Scholz S, Weitz C, Harris TB, Ferrucci L, Hardy J, Singleton AB. Measures of autozygosity in decline: globalization, urbanization, and its implications for medical genetics. Plos Genetics. 5: e1000415. PMID 19282984 DOI: 10.1371/Journal.Pgen.1000415  0.187
2017 Larsson SC, Singleton AB, Nalls MA, Richards JB. No clear support for a role for vitamin D in Parkinson's disease: A Mendelian randomization study. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 28594127 DOI: 10.1002/Mds.27069  0.186
2021 Graff M, Justice AE, Young KL, Marouli E, Zhang X, Fine RS, Lim E, Buchanan V, Rand K, Feitosa MF, Wojczynski MK, Yanek LR, Shao Y, Rohde R, Adeyemo AA, ... ... Singleton AB, et al. Discovery and fine-mapping of height loci via high-density imputation of GWASs in individuals of African ancestry. American Journal of Human Genetics. PMID 33713608 DOI: 10.1016/j.ajhg.2021.02.011  0.186
2018 Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, ... ... Singleton AB, et al. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene. Neuron. 97: 1268-1283.e6. PMID 29566793 DOI: 10.1016/J.Neuron.2018.02.027  0.186
2013 Kang JH, Irwin DJ, Chen-Plotkin AS, Siderowf A, Caspell C, Coffey CS, Waligórska T, Taylor P, Pan S, Frasier M, Marek K, Kieburtz K, Jennings D, Simuni T, Tanner CM, ... Singleton A, et al. Association of cerebrospinal fluid β-amyloid 1-42, T-tau, P-tau181, and α-synuclein levels with clinical features of drug-naive patients with early Parkinson disease. Jama Neurology. 70: 1277-87. PMID 23979011 DOI: 10.1001/Jamaneurol.2013.3861  0.185
2014 Heckman MG, Schottlaender L, Soto-Ortolaza AI, Diehl NN, Rayaprolu S, Ogaki K, Fujioka S, Murray ME, Cheshire WP, Uitti RJ, Wszolek ZK, Farrer MJ, Sailer A, Singleton AB, Chinnery PF, et al. LRRK2 exonic variants and risk of multiple system atrophy. Neurology. 83: 2256-61. PMID 25378673 DOI: 10.1212/Wnl.0000000000001078  0.185
2013 Franceschini N, Fox E, Zhang Z, Edwards TL, Nalls MA, Sung YJ, Tayo BO, Sun YV, Gottesman O, Adeyemo A, Johnson AD, Young JH, Rice K, Duan Q, Chen F, ... ... Singleton AB, et al. Genome-wide association analysis of blood-pressure traits in African-ancestry individuals reveals common associated genes in African and non-African populations. American Journal of Human Genetics. 93: 545-54. PMID 23972371 DOI: 10.1016/J.Ajhg.2013.07.010  0.185
2003 Hardy J, Singleton A, Gwinn-Hardy K. Ethnic differences and disease phenotypes. Science. 300: 739-740. PMID 12730580 DOI: 10.1126/Science.300.5620.739  0.185
2005 Momeni P, Lu CS, Chou YH, Chang HC, Chen RS, Chen CC, Hsu JT, Singleton A, Hardy J. Taiwanese cases of SCA2 are derived from a single founder. Movement Disorders : Official Journal of the Movement Disorder Society. 20: 1633-6. PMID 16078202 DOI: 10.1002/Mds.20638  0.185
2002 Singleton AB, Wharton A, O'Brien KK, Walker MP, McKeith IG, Ballard CG, O'Brien J, Perry RH, Ince PG, Edwardson JA, Morris CM. Clinical and neuropathological correlates of apolipoprotein E genotype in dementia with Lewy bodies. Dementia and Geriatric Cognitive Disorders. 14: 167-75. PMID 12411758 DOI: 10.1159/000066022  0.184
2007 Mallard KS, Singleton A. Creating a responsive community and leading millennial faculty The Department Chair. 18: 6-8. DOI: 10.1002/Dch.20003  0.183
1997 Singleton AB, Lamb H, Leake A, McKeith IG, Perry RH, Morris CM. No association between an intronic polymorphism in the presenilin-1 gene and Alzheimer's disease. Neuroscience Letters. 234: 19-22. PMID 9347936 DOI: 10.1016/S0304-3940(97)00653-8  0.183
2018 Simuni T, Siderowf A, Lasch S, Coffey CS, Caspell-Garcia C, Jennings D, Tanner CM, Trojanowski JQ, Shaw LM, Seibyl J, Schuff N, Singleton A, Kieburtz K, Toga AW, Mollenhauer B, et al. Longitudinal change of clinical and biological measures in early Parkinson's disease: Parkinson's progression markers initiative cohort. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 29572948 DOI: 10.1002/Mds.27361  0.183
2016 Mehta SH, Dickson DW, Morgan JC, Singleton AB, Majounie E, Sethi KD. Juvenile onset Parkinsonism with "pure nigral" degeneration and POLG1 mutation. Parkinsonism & Related Disorders. PMID 27349602 DOI: 10.1016/J.Parkreldis.2016.06.013  0.182
2006 Momeni P, Schymick J, Jain S, Cookson MR, Cairns NJ, Greggio E, Greenway MJ, Berger S, Pickering-Brown S, Chiò A, Fung HC, Holtzman DM, Huey ED, Wassermann EM, Adamson J, ... ... Singleton A, et al. Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD. Bmc Neurology. 6: 44. PMID 17166276 DOI: 10.1186/1471-2377-6-44  0.182
2007 van de Leemput J, Chandran J, Knight MA, Holtzclaw LA, Scholz S, Cookson MR, Houlden H, Gwinn-Hardy K, Fung HC, Lin X, Hernandez D, Simon-Sanchez J, Wood NW, Giunti P, Rafferty I, ... ... Singleton AB, et al. Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans. Plos Genetics. 3: e108. PMID 17590087 DOI: 10.1371/Journal.Pgen.0030108  0.182
2011 Marelli C, van de Leemput J, Johnson JO, Tison F, Thauvin-Robinet C, Picard F, Tranchant C, Hernandez DG, Huttin B, Boulliat J, Sangla I, Marescaux C, Brique S, Dollfus H, Arepalli S, ... ... Singleton A, et al. SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia. Archives of Neurology. 68: 637-43. PMID 21555639 DOI: 10.1001/Archneurol.2011.81  0.182
2015 Schottlaender LV, Polke JM, Ling H, MacDoanld ND, Tucci A, Nanji T, Pittman A, de Silva R, Holton JL, Revesz T, Sweeney MG, Singleton AB, Lees AJ, Bhatia KP, Houlden H. The analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism. Neurobiology of Aging. 36: 1221.e1-6. PMID 25308964 DOI: 10.1016/j.neurobiolaging.2014.08.024  0.181
2014 Schulze TG, Akula N, Breuer R, Steele J, Nalls MA, Singleton AB, Degenhardt FA, Nöthen MM, Cichon S, Rietschel M, McMahon FJ. Molecular genetic overlap in bipolar disorder, schizophrenia, and major depressive disorder. The World Journal of Biological Psychiatry : the Official Journal of the World Federation of Societies of Biological Psychiatry. 15: 200-8. PMID 22404658 DOI: 10.3109/15622975.2012.662282  0.181
2005 Hague S, Peuralinna T, Eerola J, Hellström O, Tienari PJ, Singleton AB. Confirmation of the protective effect of iNOS in an independent cohort of Parkinson disease. Neurology. 62: 635-6. PMID 14981185 DOI: 10.1212/01.WNL.0000110191.38152.29  0.18
2019 Driscoll I, Snively BM, Espeland MA, Shumaker SA, Rapp SR, Goveas JS, Casanova RL, Wactawski-Wende J, Manson JE, Rossom R, Brooks J, Hernandez DG, Singleton AB, Resnick SM. A candidate gene study of risk for dementia in older, post-menopausal women: Results from the Women's Health Initiative Memory Study. International Journal of Geriatric Psychiatry. PMID 30706571 DOI: 10.1002/gps.5068  0.177
2009 Ferrucci L, Perry JR, Matteini A, Perola M, Tanaka T, Silander K, Rice N, Melzer D, Murray A, Cluett C, Fried LP, Albanes D, Corsi AM, Cherubini A, Guralnik J, ... ... Singleton A, et al. Common variation in the beta-carotene 15,15'-monooxygenase 1 gene affects circulating levels of carotenoids: a genome-wide association study. American Journal of Human Genetics. 84: 123-33. PMID 19185284 DOI: 10.1016/J.Ajhg.2008.12.019  0.176
2016 Evans DS, Avery CL, Nalls MA, Li G, Barnard J, Smith EN, Tanaka T, Butler AM, Buxbaum SG, Alonso A, Arking DE, Berenson GS, Bis JC, Buyske S, Carty CL, ... ... Singleton AB, et al. Fine-mapping, Novel Loci Identification, and SNP Association Transferability in a Genome-Wide Association Study of QRS Duration in African Americans. Human Molecular Genetics. PMID 27577874 DOI: 10.1093/Hmg/Ddw284  0.176
2017 Caspell-Garcia C, Simuni T, Tosun-Turgut D, Wu IW, Zhang Y, Nalls M, Singleton A, Shaw LA, Kang JH, Trojanowski JQ, Siderowf A, Coffey C, Lasch S, Aarsland D, Burn D, et al. Multiple modality biomarker prediction of cognitive impairment in prospectively followed de novo Parkinson disease. Plos One. 12: e0175674. PMID 28520803 DOI: 10.1371/Journal.Pone.0175674  0.176
2015 Gao J, Liu R, Zhao E, Huang X, Nalls MA, Singleton AB, Chen H. Head injury, potential interaction with genes, and risk for Parkinson's disease. Parkinsonism & Related Disorders. 21: 292-6. PMID 25603768 DOI: 10.1016/J.Parkreldis.2014.12.033  0.175
2015 Hibar DP, Stein JL, Renteria ME, Arias-Vasquez A, Desrivières S, Jahanshad N, Toro R, Wittfeld K, Abramovic L, Andersson M, Aribisala BS, Armstrong NJ, Bernard M, Bohlken MM, Boks MP, ... ... Singleton A, et al. Common genetic variants influence human subcortical brain structures. Nature. 520: 224-9. PMID 25607358 DOI: 10.1038/Nature14101  0.175
2017 Hammer MB, Ding J, Mochel F, Eleuch-Fayache G, Charles P, Coutelier M, Gibbs JR, Arepalli SK, Chong SB, Hernandez DG, Majounie E, Clipman S, Bouhlal Y, Nehdi H, Brice A, ... ... Singleton AB, et al. SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families. Neuro-Degenerative Diseases. 17: 208-212. PMID 28558379 DOI: 10.1159/000464445  0.175
2008 Matarin M, Brown WM, Singleton A, Hardy JA, Meschia JF. Whole genome analyses suggest ischemic stroke and heart disease share an association with polymorphisms on chromosome 9p21. Stroke; a Journal of Cerebral Circulation. 39: 1586-9. PMID 18340101 DOI: 10.1161/Strokeaha.107.502963  0.175
2017 Capozzo R, Sassi C, Hammer MB, Arcuti S, Zecca C, Barulli MR, Tortelli R, Gibbs JR, Crews C, Seripa D, Carnicella F, Dell'Aquila C, Rossi M, Tamma F, Valluzzi F, ... ... Singleton AB, et al. Clinical and genetic analyses of familial and sporadic frontotemporal dementia patients in Southern Italy. Alzheimer's & Dementia : the Journal of the Alzheimer's Association. PMID 28264768 DOI: 10.1016/j.jalz.2017.01.011  0.174
2014 Xi Z, Yunusova Y, van Blitterswijk M, Dib S, Ghani M, Moreno D, Sato C, Liang Y, Singleton A, Robertson J, Rademakers R, Zinman L, Rogaeva E. Identical twins with the C9orf72 repeat expansion are discordant for ALS. Neurology. 83: 1476-8. PMID 25209579 DOI: 10.1212/Wnl.0000000000000886  0.174
2018 Burciu RG, Seidler RD, Shukla P, Nalls MA, Singleton AB, Okun MS, Vaillancourt DE. Multimodal neuroimaging and behavioral assessment of α-synuclein polymorphism rs356219 in older adults. Neurobiology of Aging. 66: 32-39. PMID 29505953 DOI: 10.1016/J.Neurobiolaging.2018.02.001  0.173
2014 Keller MF, Ferrucci L, Singleton AB, Tienari PJ, Laaksovirta H, Restagno G, Chiò A, Traynor BJ, Nalls MA. Genome-wide analysis of the heritability of amyotrophic lateral sclerosis. Jama Neurology. 71: 1123-34. PMID 25023141 DOI: 10.1001/Jamaneurol.2014.1184  0.173
2014 Wood AR, Tuke MA, Nalls MA, Hernandez DG, Bandinelli S, Singleton AB, Melzer D, Ferrucci L, Frayling TM, Weedon MN. Another explanation for apparent epistasis. Nature. 514: E3-5. PMID 25279928 DOI: 10.1038/Nature13691  0.173
2011 Jones L, Holmans PA, Hamshere ML, Harold D, Moskvina V, Ivanov D, Pocklington A, Abraham R, Hollingworth P, Sims R, Gerrish A, Pahwa JS, Jones N, Stretton A, Morgan AR, ... ... Singleton AB, et al. Correction: Genetic Evidence Implicates the Immune System and Cholesterol Metabolism in the Aetiology of Alzheimer's Disease Plos One. 6. DOI: 10.1371/annotation/a0bb886d-d345-4a20-a82e-adce9b047798  0.173
2016 Blauwendraat C, Francescatto M, Gibbs JR, Jansen IE, Simón-Sánchez J, Hernandez DG, Dillman AA, Singleton AB, Cookson MR, Rizzu P, Heutink P. Comprehensive promoter level expression quantitative trait loci analysis of the human frontal lobe. Genome Medicine. 8: 65. PMID 27287230 DOI: 10.1186/S13073-016-0320-1  0.172
2014 Sangaré M, Hendrickson B, Sango HA, Chen K, Nofziger J, Amara A, Dutra A, Schindler AB, Guindo A, Traoré M, Harmison G, Pak E, Yaro FN, Bricceno K, Grunseich C, ... ... Singleton AB, et al. Genetics of low spinal muscular atrophy carrier frequency in sub-Saharan Africa. Annals of Neurology. 75: 525-32. PMID 24515897 DOI: 10.1002/Ana.24114  0.172
2013 Thambisetty M, An Y, Nalls M, Sojkova J, Swaminathan S, Zhou Y, Singleton AB, Wong DF, Ferrucci L, Saykin AJ, Resnick SM. Effect of complement CR1 on brain amyloid burden during aging and its modification by APOE genotype. Biological Psychiatry. 73: 422-8. PMID 23022416 DOI: 10.1016/J.Biopsych.2012.08.015  0.172
2015 Westra HJ, Arends D, Esko T, Peters MJ, Schurmann C, Schramm K, Kettunen J, Yaghootkar H, Fairfax BP, Andiappan AK, Li Y, Fu J, Karjalainen J, Platteel M, Visschedijk M, ... ... Singleton AB, et al. Cell Specific eQTL Analysis without Sorting Cells. Plos Genetics. 11: e1005223. PMID 25955312 DOI: 10.1371/Journal.Pgen.1005223  0.171
2004 Singleton A, Gwinn-Hardy K. Parkinson's disease and dementia with Lewy bodies: A difference in dose? Lancet. 364: 1105-1107. PMID 15451205 DOI: 10.1016/S0140-6736(04)17117-1  0.17
2021 Antar T, Morris HR, Faghri F, Leonard HL, Nalls MA, Singleton AB, Iwaki H. Longitudinal risk factors for developing depressive symptoms in Parkinson's disease. Journal of the Neurological Sciences. 429: 117615. PMID 34492572 DOI: 10.1016/j.jns.2021.117615  0.17
2011 Meschia JF, Singleton A, Nalls MA, Rich SS, Sharma P, Ferrucci L, Matarin M, Hernandez DG, Pearce K, Brott TG, Brown RD, Hardy J, Worrall BB. Genomic risk profiling of ischemic stroke: results of an international genome-wide association meta-analysis. Plos One. 6: e23161. PMID 21957438 DOI: 10.1371/Journal.Pone.0023161  0.17
2016 Sassi C, Ridge PG, Nalls MA, Gibbs R, Ding J, Lupton MK, Troakes C, Lunnon K, Al-Sarraj S, Brown KS, Medway C, Lord J, Turton J, Morgan K, ... ... Singleton AB, et al. Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer's Disease. Plos One. 11: e0150079. PMID 27249223 DOI: 10.1371/Journal.Pone.0150079  0.169
2012 Stolk L, Perry JR, Chasman DI, He C, Mangino M, Sulem P, Barbalic M, Broer L, Byrne EM, Ernst F, Esko T, Franceschini N, Gudbjartsson DF, Hottenga JJ, Kraft P, ... ... Singleton A, et al. Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. Nature Genetics. 44: 260-8. PMID 22267201 DOI: 10.1038/Ng.1051  0.169
2017 Hayete B, Wuest D, Laramie J, McDonagh P, Church B, Eberly S, Lang A, Marek K, Runge K, Shoulson I, Singleton A, Tanner C, Khalil I, Verma A, Ravina B. A Bayesian mathematical model of motor and cognitive outcomes in Parkinson's disease. Plos One. 12: e0178982. PMID 28604798 DOI: 10.1371/Journal.Pone.0178982  0.169
2010 Eerola J, Luoma PT, Peuralinna T, Scholz S, Paisan-Ruiz C, Suomalainen A, Singleton AB, Tienari PJ. POLG1 polyglutamine tract variants associated with Parkinson's disease. Neuroscience Letters. 477: 1-5. PMID 20399836 DOI: 10.1016/j.neulet.2010.04.021  0.169
2015 Huan T, Esko T, Peters MJ, Pilling LC, Schramm K, Schurmann C, Chen BH, Liu C, Joehanes R, Johnson AD, Yao C, Ying SX, Courchesne P, Milani L, Raghavachari N, ... ... Singleton A, et al. A meta-analysis of gene expression signatures of blood pressure and hypertension. Plos Genetics. 11: e1005035. PMID 25785607 DOI: 10.1371/Journal.Pgen.1005035  0.169
2006 Shatunov A, Sambuughin N, Jankovic J, Elble R, Lee HS, Singleton AB, Dagvadorj A, Ji J, Zhang Y, Kimonis VE, Hardy J, Hallett M, Goldfarb LG. Genomewide scans in North American families reveal genetic linkage of essential tremor to a region on chromosome 6p23. Brain : a Journal of Neurology. 129: 2318-31. PMID 16702189 DOI: 10.1093/Brain/Awl120  0.168
2008 Tanskanen M, Peuralinna T, Polvikoski T, Notkola IL, Sulkava R, Hardy J, Singleton A, Kiuru-Enari S, Paetau A, Tienari PJ, Myllykangas L. Senile systemic amyloidosis affects 25% of the very aged and associates with genetic variation in alpha2-macroglobulin and tau: a population-based autopsy study. Annals of Medicine. 40: 232-9. PMID 18382889 DOI: 10.1080/07853890701842988  0.168
2013 Monda KL, Chen GK, Taylor KC, Palmer C, Edwards TL, Lange LA, Ng MC, Adeyemo AA, Allison MA, Bielak LF, Chen G, Graff M, Irvin MR, Rhie SK, Li G, ... ... Singleton AB, et al. A meta-analysis identifies new loci associated with body mass index in individuals of African ancestry. Nature Genetics. 45: 690-6. PMID 23583978 DOI: 10.1038/Ng.2608  0.167
2011 Akula N, Baranova A, Seto D, Solka J, Nalls MA, Singleton A, Ferrucci L, Tanaka T, Bandinelli S, Cho YS, Kim YJ, Lee JY, Han BG, et al. A network-based approach to prioritize results from genome-wide association studies. Plos One. 6: e24220. PMID 21915301 DOI: 10.1371/Journal.Pone.0024220  0.166
2019 Mollenhauer B, Caspell-Garcia CJ, Coffey CS, Taylor P, Singleton A, Shaw LM, Trojanowski JQ, Frasier M, Simuni T, Iranzo A, Oertel W, Siderowf A, Weintraub D, Seibyl J, Toga AW, et al. Longitudinal analyses of cerebrospinal fluid α-Synuclein in prodromal and early Parkinson's disease. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 31361367 DOI: 10.1002/Mds.27806  0.166
2004 Hanson M, Honour M, Singleton A, Crawley A, Singleton A, Hardy J, Gwinn-Hardy K. Analysis of familial and sporadic restless legs syndrome in age of onset, gender, and severity features. Journal of Neurology. 251: 1398-1401. PMID 15592737 DOI: 10.1007/S00415-004-0552-7  0.165
2015 Broer L, Buchman AS, Deelen J, Evans DS, Faul JD, Lunetta KL, Sebastiani P, Smith JA, Smith AV, Tanaka T, Yu L, Arnold AM, Aspelund T, Benjamin EJ, De Jager PL, ... ... Singleton A, et al. GWAS of longevity in CHARGE consortium confirms APOE and FOXO3 candidacy. The Journals of Gerontology. Series a, Biological Sciences and Medical Sciences. 70: 110-8. PMID 25199915 DOI: 10.1093/Gerona/Glu166  0.165
2010 Schorge S, van de Leemput J, Singleton A, Houlden H, Hardy J. Human ataxias: a genetic dissection of inositol triphosphate receptor (ITPR1)-dependent signaling. Trends in Neurosciences. 33: 211-9. PMID 20226542 DOI: 10.1016/J.Tins.2010.02.005  0.165
2013 Köttgen A, Albrecht E, Teumer A, Vitart V, Krumsiek J, Hundertmark C, Pistis G, Ruggiero D, O'Seaghdha CM, Haller T, Yang Q, Tanaka T, Johnson AD, Kutalik Z, Smith AV, ... ... Singleton AB, et al. Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. Nature Genetics. 45: 145-54. PMID 23263486 DOI: 10.1038/Ng.2500  0.164
2007 Simon-Sanchez J, Scholz S, Fung HC, Matarin M, Hernandez D, Gibbs JR, Britton A, de Vrieze FW, Peckham E, Gwinn-Hardy K, Crawley A, Keen JC, Nash J, Borgaonkar D, Hardy J, ... Singleton A, et al. Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals. Human Molecular Genetics. 16: 1-14. PMID 17116639 DOI: 10.1093/Hmg/Ddl436  0.163
2017 Carmona S, Guven G, Lohmann E, Singleton A, Hardy J, Bras JT, Guerreiro R. Genetic Characterization Of A Turkish Dementia Cohort: Focus On Tyrobp Alzheimers & Dementia. 13. DOI: 10.1016/J.Jalz.2017.07.576  0.163
2017 Böger CA, Gorski M, McMahon GM, Xu H, Chang YC, van der Most PJ, Navis G, Nolte IM, de Borst MH, Zhang W, Lehne B, Loh M, Tan ST, Boerwinkle E, Grams ME, ... ... Singleton A, et al. NFAT5 and SLC4A10 Loci Associate with Plasma Osmolality. Journal of the American Society of Nephrology : Jasn. PMID 28360221 DOI: 10.1681/Asn.2016080892  0.162
2018 Guven G, Bilgic B, Tufekcioglu Z, Erginel Unaltuna N, Hanagasi H, Gurvit H, Singleton A, Hardy J, Emre M, Gulec C, Bras J, Guerreiro R, Lohmann E. Peripheral GRN mRNA and Serum Progranulin Levels as a Potential Indicator for Both the Presence of Splice Site Mutations and Individuals at Risk for Frontotemporal Dementia. Journal of Alzheimer's Disease : Jad. PMID 30475763 DOI: 10.3233/Jad-180599  0.162
2016 Sassi C, Capozzo R, Gibbs R, Crews C, Zecca C, Arcuti S, Copetti M, Barulli MR, Brescia V, Singleton AB, Logroscino G. A Novel Splice-Acceptor Site Mutation in GRN (c.709-2 A>T) Causes Frontotemporal Dementia Spectrum in a Large Family from Southern Italy. Journal of Alzheimer's Disease : Jad. PMID 27258413 DOI: 10.3233/JAD-151170  0.16
2009 Duncan AJ, Bitner-Glindzicz M, Meunier B, Costello H, Hargreaves IP, López LC, Hirano M, Quinzii CM, Sadowski MI, Hardy J, Singleton A, Clayton PT, Rahman S. A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease. American Journal of Human Genetics. 84: 558-66. PMID 19375058 DOI: 10.1016/J.Ajhg.2009.03.018  0.16
2001 O'Farrell C, Murphy DD, Petrucelli L, Singleton AB, Hussey J, Farrer M, Hardy J, Dickson DW, Cookson MR. Transfected synphilin-1 forms cytoplasmic inclusions in HEK293 cells. Brain Research. Molecular Brain Research. 97: 94-102. PMID 11744167 DOI: 10.1016/S0169-328X(01)00292-3  0.159
2006 Eblan MJ, Nguyen J, Ziegler SG, Lwin A, Hanson M, Gallardo M, Weiser R, Lucca MD, Singleton A, Sidransky E. Glucocerebrosidase mutations are also found in subjects with early-onset parkinsonism from Venezuela Movement Disorders. 21: 282-283. PMID 16261622 DOI: 10.1002/Mds.20766  0.158
2008 Walsh T, McClellan JM, McCarthy SE, Addington AM, Pierce SB, Cooper GM, Nord AS, Kusenda M, Malhotra D, Bhandari A, Stray SM, Rippey CF, Roccanova P, Makarov V, Lakshmi B, ... ... Singleton AB, et al. Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science (New York, N.Y.). 320: 539-43. PMID 18369103 DOI: 10.1126/Science.1155174  0.157
2008 Yuan X, Waterworth D, Perry JR, Lim N, Song K, Chambers JC, Zhang W, Vollenweider P, Stirnadel H, Johnson T, Bergmann S, Beckmann ND, Li Y, Ferrucci L, Melzer D, ... ... Singleton A, et al. Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes. American Journal of Human Genetics. 83: 520-8. PMID 18940312 DOI: 10.1016/J.Ajhg.2008.09.012  0.156
2017 Bettencourt C, Salpietro V, Efthymiou S, Chelban V, Hughes D, Pittman AM, Federoff M, Bourinaris T, Spilioti M, Deretzi G, Kalantzakou T, Houlden H, Singleton AB, Xiromerisiou G. Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia. Orphanet Journal of Rare Diseases. 12: 172. PMID 29096665 DOI: 10.1186/s13023-017-0721-2  0.156
2012 Harries LW, Bradley-Smith RM, Llewellyn DJ, Pilling LC, Fellows A, Henley W, Hernandez D, Guralnik JM, Bandinelli S, Singleton A, Ferrucci L, Melzer D. Leukocyte CCR2 expression is associated with mini-mental state examination score in older adults. Rejuvenation Research. 15: 395-404. PMID 22607625 DOI: 10.1089/Rej.2011.1302  0.155
2009 Huang L, Li Y, Singleton AB, Hardy JA, Abecasis G, Rosenberg NA, Scheet P. Genotype-imputation accuracy across worldwide human populations. American Journal of Human Genetics. 84: 235-50. PMID 19215730 DOI: 10.1016/J.Ajhg.2009.01.013  0.155
2014 Lin H, Joehanes R, Pilling LC, Dupuis J, Lunetta KL, Ying SX, Benjamin EJ, Hernandez D, Singleton A, Melzer D, Munson PJ, Levy D, Ferrucci L, Murabito JM. Whole blood gene expression and interleukin-6 levels. Genomics. 104: 490-5. PMID 25311648 DOI: 10.1016/J.Ygeno.2014.10.003  0.154
2013 Thambisetty M, Beason-Held LL, An Y, Kraut M, Nalls M, Hernandez DG, Singleton AB, Zonderman AB, Ferrucci L, Lovestone S, Resnick SM. Alzheimer risk variant CLU and brain function during aging. Biological Psychiatry. 73: 399-405. PMID 22795969 DOI: 10.1016/J.Biopsych.2012.05.026  0.154
2018 Mendoza-Ferreira N, Coutelier M, Janzen E, Hosseinibarkooie S, Löhr H, Schneider S, Milbradt J, Karakaya M, Riessland M, Pichlo C, Torres-Benito L, Singleton A, Zuchner S, Brice A, Durr A, et al. Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function. Neurology. Genetics. 4: e209. PMID 29379881 DOI: 10.1212/Nxg.0000000000000209  0.154
2020 Mollenhauer B, Dakna M, Kruse N, Galasko D, Foroud T, Zetterberg H, Schade S, Gera RG, Wang W, Gao F, Frasier M, Chahine LM, Coffey CS, Singleton AB, Simuni T, et al. Validation of Serum Neurofilament Light Chain as a Biomarker of Parkinson's Disease Progression. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 32798333 DOI: 10.1002/Mds.28206  0.153
2013 Majounie E, Cross W, Newsway V, Dillman A, Vandrovcova J, Morris CM, Nalls MA, Ferrucci L, Owen MJ, O'Donovan MC, Cookson MR, Singleton AB, de Silva R, Morris HR. Variation in tau isoform expression in different brain regions and disease states. Neurobiology of Aging. 34: 1922.e7-1922.e12. PMID 23428180 DOI: 10.1016/J.Neurobiolaging.2013.01.017  0.153
2017 McKeith IG, Boeve BF, Dickson DW, Halliday G, Taylor JP, Weintraub D, Aarsland D, Galvin J, Attems J, Ballard CG, Bayston A, Beach TG, Blanc F, Bohnen N, Bonanni L, ... ... Singleton A, et al. Diagnosis and management of dementia with Lewy bodies: Fourth consensus report of the DLB Consortium. Neurology. PMID 28592453 DOI: 10.1212/Wnl.0000000000004058  0.152
2011 Singleton AB. One beginning, many ends: Mutations in one gene causing varied clinical entities Movement Disorders. 26: 379-379. DOI: 10.1002/mds.23666  0.152
2013 Sumner CJ, d'Ydewalle C, Wooley J, Fawcett KA, Hernandez D, Gardiner AR, Kalmar B, Baloh RH, Gonzalez M, Züchner S, Stanescu HC, Kleta R, Mankodi A, Cornblath DR, Boylan KB, ... ... Singleton AB, et al. A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance. American Journal of Human Genetics. 93: 976-83. PMID 24207122 DOI: 10.1016/J.Ajhg.2013.10.006  0.152
2008 Peuralinna T, Oinas M, Polvikoski T, Paetau A, Sulkava R, Niinistö L, Kalimo H, Hernandez D, Hardy J, Singleton A, Tienari PJ, Myllykangas L. Neurofibrillary tau pathology modulated by genetic variation of alpha-synuclein. Annals of Neurology. 64: 348-52. PMID 18661559 DOI: 10.1002/Ana.21446  0.151
2010 Köttgen A, Pattaro C, Böger CA, Fuchsberger C, Olden M, Glazer NL, Parsa A, Gao X, Yang Q, Smith AV, O'Connell JR, Li M, Schmidt H, Tanaka T, Isaacs A, ... ... Singleton A, et al. New loci associated with kidney function and chronic kidney disease. Nature Genetics. 42: 376-84. PMID 20383146 DOI: 10.1038/Ng.568  0.15
2008 Jakobsson M, Scholz SW, Scheet P, Gibbs JR, VanLiere JM, Fung HC, Szpiech ZA, Degnan JH, Wang K, Guerreiro R, Bras JM, Schymick JC, Hernandez DG, Traynor BJ, Simon-Sanchez J, ... ... Singleton AB, et al. Genotype, haplotype and copy-number variation in worldwide human populations. Nature. 451: 998-1003. PMID 18288195 DOI: 10.1038/Nature06742  0.15
2015 Auer PL, Nalls M, Meschia JF, Worrall BB, Longstreth WT, Seshadri S, Kooperberg C, Burger KM, Carlson CS, Carty CL, Chen WM, Cupples LA, DeStefano AL, Fornage M, Hardy J, ... ... Singleton AB, et al. Rare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke: The NHLBI Exome Sequence Project. Jama Neurology. 72: 781-8. PMID 25961151 DOI: 10.1001/Jamaneurol.2015.0582  0.15
2002 Evidente VGH, Gwinn-Hardy K, Hardy J, Hernandez D, Singleton A. X-linked dystonia ("Lubag") presenting predominantly with parkinsonism: A more benign phenotype? Movement Disorders : Official Journal of the Movement Disorder Society. 17: 200-202. PMID 28650127 DOI: 10.1002/Mds.1263  0.149
2013 O'Seaghdha CM, Wu H, Yang Q, Kapur K, Guessous I, Zuber AM, Köttgen A, Stoudmann C, Teumer A, Kutalik Z, Mangino M, Dehghan A, Zhang W, Eiriksdottir G, Li G, ... ... Singleton AB, et al. Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations. Plos Genetics. 9: e1003796. PMID 24068962 DOI: 10.1371/Journal.Pgen.1003796  0.149
2013 Kumar A, Gibbs JR, Beilina A, Dillman A, Kumaran R, Trabzuni D, Ryten M, Walker R, Smith C, Traynor BJ, Hardy J, Singleton AB, Cookson MR. Age-associated changes in gene expression in human brain and isolated neurons. Neurobiology of Aging. 34: 1199-209. PMID 23177596 DOI: 10.1016/J.Neurobiolaging.2012.10.021  0.149
2009 Murray A, Cluett C, Bandinelli S, Corsi AM, Ferrucci L, Guralnik J, Singleton A, Frayling T, Melzer D. Common lipid-altering gene variants are associated with therapeutic intervention thresholds of lipid levels in older people. European Heart Journal. 30: 1711-9. PMID 19435741 DOI: 10.1093/Eurheartj/Ehp161  0.149
2019 Leonard H, Blauwendraat C, Krohn L, Faghri F, Iwaki H, Ferguson G, Day-Williams AG, Stone DJ, Singleton AB, Nalls MA, Gan-Or Z. Genetic variability and potential effects on clinical trial outcomes: perspectives in Parkinson's disease. Journal of Medical Genetics. PMID 31784483 DOI: 10.1136/Jmedgenet-2019-106283  0.148
2014 Johnson JO, Pioro EP, Boehringer A, Chia R, Feit H, Renton AE, Pliner HA, Abramzon Y, Marangi G, Winborn BJ, Gibbs JR, Nalls MA, Morgan S, Shoai M, Hardy J, ... ... Singleton AB, et al. Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis. Nature Neuroscience. 17: 664-6. PMID 24686783 DOI: 10.1038/Nn.3688  0.147
2008 Matarin M, Brown WM, Hardy JA, Rich SS, Singleton AB, Brown RD, Brott TG, Worrall BB, Meschia JF. Association of integrin alpha2 gene variants with ischemic stroke. Journal of Cerebral Blood Flow and Metabolism : Official Journal of the International Society of Cerebral Blood Flow and Metabolism. 28: 81-9. PMID 17534386 DOI: 10.1038/sj.jcbfm.9600508  0.147
2011 Reiner AP, Lettre G, Nalls MA, Ganesh SK, Mathias R, Austin MA, Dean E, Arepalli S, Britton A, Chen Z, Couper D, Curb JD, Eaton CB, Fornage M, Grant SF, ... ... Singleton AB, et al. Genome-wide association study of white blood cell count in 16,388 African Americans: the continental origins and genetic epidemiology network (COGENT). Plos Genetics. 7: e1002108. PMID 21738479 DOI: 10.1371/Journal.Pgen.1002108  0.147
2015 Freitag D, Butterworth AS, Willeit P, Howson JMM, Burgess S, Kaptoge S, Young R, Ho WK, Wood AM, Sweeting M, Spackman S, Staley JR, Ramond A, Harshfield E, Nielsen SF, ... ... Singleton A, et al. Cardiometabolic effects of genetic upregulation of the interleukin 1 receptor antagonist: A Mendelian randomisation analysis The Lancet Diabetes and Endocrinology. 3: 243-253. DOI: 10.1016/S2213-8587(15)00034-0  0.147
2012 Thambisetty M, An Y, Tanaka T, Nalls M, Singleton A, Davatzikos C, Ferrucci L, Resnick S. Alzheimer's risk variants CR1 and apolipoprotein E interact to influence progression of Alzheimer's pathology in nondemented elderly Alzheimers & Dementia. 8: 673. DOI: 10.1016/J.Jalz.2012.05.1822  0.146
2020 Dewan R, Chia R, Ding J, Hickman RA, Stein TD, Abramzon Y, Ahmed S, Sabir MS, Portley MK, Tucci A, Ibáñez K, Shankaracharya FNU, Keagle P, Rossi G, Caroppo P, ... ... Singleton AB, et al. Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis. Neuron. PMID 33242422 DOI: 10.1016/j.neuron.2020.11.005  0.146
2010 Tanaka T, Roy CN, Yao W, Matteini A, Semba RD, Arking D, Walston JD, Fried LP, Singleton A, Guralnik J, Abecasis GR, Bandinelli S, Longo DL, Ferrucci L. A genome-wide association analysis of serum iron concentrations. Blood. 115: 94-6. PMID 19880490 DOI: 10.1182/Blood-2009-07-232496  0.146
2010 Gibbs JR, van der Brug MP, Hernandez DG, Traynor BJ, Nalls MA, Lai SL, Arepalli S, Dillman A, Rafferty IP, Troncoso J, Johnson R, Zielke HR, Ferrucci L, Longo DL, Cookson MR, ... Singleton AB, et al. Abundant quantitative trait loci exist for DNA methylation and gene expression in human brain. Plos Genetics. 6: e1000952. PMID 20485568 DOI: 10.1371/Journal.Pgen.1000952  0.145
2009 Tanaka T, Shen J, Abecasis GR, Kisialiou A, Ordovas JM, Guralnik JM, Singleton A, Bandinelli S, Cherubini A, Arnett D, Tsai MY, Ferrucci L. Genome-wide association study of plasma polyunsaturated fatty acids in the InCHIANTI Study. Plos Genetics. 5: e1000338. PMID 19148276 DOI: 10.1371/Journal.Pgen.1000338  0.145
2012 Hernandez DG, Singleton AB. Using DNA methylation to understand biological consequences of genetic variability. Neuro-Degenerative Diseases. 9: 53-9. PMID 22123027 DOI: 10.1159/000333097  0.145
2017 Manole A, Jaunmuktane Z, Hargreaves I, Ludtmann MHR, Salpietro V, Bello OD, Pope S, Pandraud A, Horga A, Scalco RS, Li A, Ashokkumar B, Lourenço CM, Heales S, Horvath R, ... ... Singleton AB, et al. Clinical, pathological and functional characterization of riboflavin-responsive neuropathy. Brain : a Journal of Neurology. PMID 29053833 DOI: 10.1093/Brain/Awx231  0.145
2013 Salehi B, Preuss N, van der Veen JW, Shen J, Neumeister A, Drevets WC, Hodgkinson C, Goldman D, Wendland JR, Singleton A, Gibbs JR, Cookson MR, Hasler G. Age-modulated association between prefrontal NAA and the BDNF gene. The International Journal of Neuropsychopharmacology / Official Scientific Journal of the Collegium Internationale Neuropsychopharmacologicum (Cinp). 16: 1185-93. PMID 23253771 DOI: 10.1017/S1461145712001204  0.144
2013 Ross OA, Soto-Ortolaza AI, Heckman MG, Verbeeck C, Serie DJ, Rayaprolu S, Rich SS, Nalls MA, Singleton A, Guerreiro R, Kinsella E, Wszolek ZK, Brott TG, Brown RD, Worrall BB, et al. NOTCH3 variants and risk of ischemic stroke. Plos One. 8: e75035. PMID 24086431 DOI: 10.1371/Journal.Pone.0075035  0.144
2007 Lees AJ, Singleton AB. Clinical heterogeneity of ATP13A2 linked disease (Kufor-Rakeb) justifies a PARK designation. Neurology. 68: 1553-4. PMID 17485640 DOI: 10.1212/01.wnl.0000265228.66664.f4  0.144
2008 Panicker V, Cluett C, Shields B, Murray A, Parnell KS, Perry JR, Weedon MN, Singleton A, Hernandez D, Evans J, Durant C, Ferrucci L, Melzer D, Saravanan P, Visser TJ, et al. A common variation in deiodinase 1 gene DIO1 is associated with the relative levels of free thyroxine and triiodothyronine. The Journal of Clinical Endocrinology and Metabolism. 93: 3075-81. PMID 18492748 DOI: 10.1210/Jc.2008-0397  0.143
2006 Hague S, Klaffke S, Clarimon J, Hemmer B, Singleton A, Kupsch A, Bandmann O. Lack of association with TorsinA haplotype in German patients with sporadic dystonia. Neurology. 66: 951-2. PMID 16567727 DOI: 10.1212/01.wnl.0000203344.43342.18  0.143
2009 Defazio G, Matarin M, Peckham EL, Martino D, Valente EM, Singleton A, Crawley A, Aniello MS, Brancati F, Abbruzzese G, Girlanda P, Livrea P, Hallett M, Berardelli A. The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm. Movement Disorders : Official Journal of the Movement Disorder Society. 24: 613-6. PMID 19202559 DOI: 10.1002/Mds.22471  0.143
2017 Bonet-Ponce L, Singleton AB. Make dopamine neurons great again: An exciting new therapeutic option in parkinson's disease. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 28631854 DOI: 10.1002/mds.27078  0.141
2012 David SP, Hamidovic A, Chen GK, Bergen AW, Wessel J, Kasberger JL, Brown WM, Petruzella S, Thacker EL, Kim Y, Nalls MA, Tranah GJ, Sung YJ, Ambrosone CB, Arnett D, ... ... Singleton AB, et al. Genome-wide meta-analyses of smoking behaviors in African Americans. Translational Psychiatry. 2: e119. PMID 22832964 DOI: 10.1038/Tp.2012.41  0.14
2012 Schlebusch CM, Skoglund P, Sjödin P, Gattepaille LM, Hernandez D, Jay F, Li S, De Jongh M, Singleton A, Blum MG, Soodyall H, Jakobsson M. Genomic variation in seven Khoe-San groups reveals adaptation and complex African history. Science (New York, N.Y.). 338: 374-9. PMID 22997136 DOI: 10.1126/Science.1227721  0.14
2009 Wheeler HE, Metter EJ, Tanaka T, Absher D, Higgins J, Zahn JM, Wilhelmy J, Davis RW, Singleton A, Myers RM, Ferrucci L, Kim SK. Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. Plos Genetics. 5: e1000685. PMID 19834535 DOI: 10.1371/Journal.Pgen.1000685  0.14
2009 Wickremaratchi MM, Majounie E, Morris HR, Williams NM, Lewis H, Gill SS, Khan S, Heywood P, Hardy J, Wiles CM, Singleton AB, Quinn NP. Parkin-related disease clinically diagnosed as a pallido-pyramidal syndrome. Movement Disorders : Official Journal of the Movement Disorder Society. 24: 138-40. PMID 18942080 DOI: 10.1002/Mds.22181  0.139
2014 Holly AC, Pilling LC, Hernandez D, Lee BP, Singleton A, Ferrucci L, Melzer D, Harries LW. Splicing factor 3B1 hypomethylation is associated with altered SF3B1 transcript expression in older humans. Mechanisms of Ageing and Development. 135: 50-6. PMID 24463145 DOI: 10.1016/J.Mad.2014.01.005  0.139
2002 O'Farrell C, Hernandez DG, Evey C, Singleton AB, Cookson MR. Normal localization of deltaF323-Y328 mutant torsinA in transfected human cells. Neuroscience Letters. 327: 75-8. PMID 12098639 DOI: 10.1016/S0304-3940(02)00400-7  0.139
2006 Hardy J, Scholz S, Evans W, Goldfarb L, Singleton A. Prion genotypes in Central America suggest selection for the V129 allele. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 141: 33-5. PMID 16287045 DOI: 10.1002/Ajmg.B.30248  0.139
2007 Houlden H, Johnson J, Gardner-Thorpe C, Lashley T, Hernandez D, Worth P, Singleton AB, Hilton DA, Holton J, Revesz T, Davis MB, Giunti P, Giunti P, Wood NW. Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11. Nature Genetics. 39: 1434-6. PMID 18037885 DOI: 10.1038/ng.2007.43  0.137
2011 Gwinn K, Devine MJ, Jin LW, Johnson J, Bird T, Muenter M, Waters C, Adler CH, Caselli R, Houlden H, Lopez G, Singleton A, Hardy J, Singleton A. Clinical features, with video documentation, of the original familial lewy body parkinsonism caused by α-synuclein triplication (Iowa kindred). Movement Disorders : Official Journal of the Movement Disorder Society. 26: 2134-6. PMID 21656851 DOI: 10.1002/Mds.23776  0.137
2015 Li J, Lange LA, Duan Q, Lu Y, Singleton AB, Zonderman AB, Evans MK, Li Y, Taylor HA, Willis MS, Nalls M, Wilson JG, Lange EM. Genome-wide admixture and association study of serum iron, ferritin, transferrin saturation and total iron binding capacity in African Americans. Human Molecular Genetics. 24: 572-81. PMID 25224454 DOI: 10.1093/Hmg/Ddu454  0.137
2004 O'Farrell C, Lockhart PJ, Lincoln S, De Lucia M, Singleton AB, Dickson DW, Cookson MR. Biochemical characterization of torsinB. Brain Research. Molecular Brain Research. 127: 1-9. PMID 15306116 DOI: 10.1016/J.Molbrainres.2004.05.005  0.137
2011 Ehret GB, Munroe PB, Rice KM, Bochud M, Johnson AD, Chasman DI, Smith AV, Tobin MD, Verwoert GC, Hwang SJ, Pihur V, Vollenweider P, O'Reilly PF, Amin N, ... ... Singleton A, et al. Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature. 478: 103-9. PMID 21909115 DOI: 10.1038/Nature10405  0.137
2008 Knight MA, Hernandez D, Diede SJ, Dauwerse HG, Rafferty I, van de Leemput J, Forrest SM, Gardner RJ, Storey E, van Ommen GJ, Tapscott SJ, Fischbeck KH, Singleton AB. A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20. Human Molecular Genetics. 17: 3847-53. PMID 18801880 DOI: 10.1093/hmg/ddn283  0.136
2018 Marioni RE, McRae AF, Bressler J, Colicino E, Hannon E, Li S, Prada D, Smith JA, Trevisi L, Tsai PC, Vojinovic D, Simino J, Levy D, Liu C, Mendelson M, ... ... Singleton AB, et al. Meta-analysis of epigenome-wide association studies of cognitive abilities. Molecular Psychiatry. PMID 29311653 DOI: 10.1038/S41380-017-0008-Y  0.136
2021 Tian R, Abarientos A, Hong J, Hashemi SH, Yan R, Dräger N, Leng K, Nalls MA, Singleton AB, Xu K, Faghri F, Kampmann M. Genome-wide CRISPRi/a screens in human neurons link lysosomal failure to ferroptosis. Nature Neuroscience. PMID 34031600 DOI: 10.1038/s41593-021-00862-0  0.136
2013 Ramasamy A, Trabzuni D, Gibbs JR, Dillman A, Hernandez DG, Arepalli S, Walker R, Smith C, Ilori GP, Shabalin AA, Li Y, Singleton AB, Cookson MR, Hardy J, et al. Resolving the polymorphism-in-probe problem is critical for correct interpretation of expression QTL studies. Nucleic Acids Research. 41: e88. PMID 23435227 DOI: 10.1093/Nar/Gkt069  0.136
2011 Harries LW, Hernandez D, Henley W, Wood AR, Holly AC, Bradley-Smith RM, Yaghootkar H, Dutta A, Murray A, Frayling TM, Guralnik JM, Bandinelli S, Singleton A, Ferrucci L, Melzer D. Human aging is characterized by focused changes in gene expression and deregulation of alternative splicing. Aging Cell. 10: 868-78. PMID 21668623 DOI: 10.1111/J.1474-9726.2011.00726.X  0.136
2012 Singleton AB. Rapid genetic diagnosis in single-gene movement disorders. Movement Disorders : Official Journal of the Movement Disorder Society. 27: 467-9. PMID 22488858 DOI: 10.1002/mds.24896  0.135
2010 Wang C, Szpiech ZA, Degnan JH, Jakobsson M, Pemberton TJ, Hardy JA, Singleton AB, Rosenberg NA. Comparing spatial maps of human population-genetic variation using Procrustes analysis. Statistical Applications in Genetics and Molecular Biology. 9: Article 13. PMID 20196748 DOI: 10.2202/1544-6115.1493  0.135
2016 Ligthart S, Marzi C, Aslibekyan S, Mendelson MM, Conneely KN, Tanaka T, Colicino E, Waite LL, Joehanes R, Guan W, Brody JA, Elks C, Marioni R, Jhun MA, Agha G, ... ... Singleton AB, et al. DNA methylation signatures of chronic low-grade inflammation are associated with complex diseases. Genome Biology. 17: 255. PMID 27955697 DOI: 10.1186/S13059-016-1119-5  0.135
2016 Chen BH, Hivert MF, Peters MJ, Pilling LC, Hogan JD, Pham LM, Harries LW, Fox CS, Bandinelli S, Dehghan A, Hernandez DG, Hofman A, Hong J, Joehanes R, Johnson AD, ... ... Singleton AB, et al. Peripheral Blood Transcriptomic Signatures of Fasting Glucose and Insulin Concentrations. Diabetes. PMID 27625022 DOI: 10.2337/Db16-0470  0.134
2018 Pihlstrøm L, Schottlaender L, Chelban V, Meissner WG, Federoff M, Singleton A, Houlden H. Lysosomal storage disorder gene variants in multiple system atrophy. Brain : a Journal of Neurology. PMID 29741613 DOI: 10.1093/brain/awy124  0.134
2007 Worrall BB, Brott TG, Brown RD, Brown WM, Rich SS, Arepalli S, Wavrant-De Vrièze F, Duckworth J, Singleton AB, Hardy J, Meschia JF. IL1RN VNTR polymorphism in ischemic stroke: analysis in 3 populations. Stroke; a Journal of Cerebral Circulation. 38: 1189-96. PMID 17332449 DOI: 10.1161/01.Str.0000260099.42744.B0  0.134
2012 Qayyum R, Snively BM, Ziv E, Nalls MA, Liu Y, Tang W, Yanek LR, Lange L, Evans MK, Ganesh S, Austin MA, Lettre G, Becker DM, Zonderman AB, Singleton AB, et al. A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans. Plos Genetics. 8: e1002491. PMID 22423221 DOI: 10.1371/Journal.Pgen.1002491  0.133
2004 Evidente VG, Esteban RP, Hernandez JL, Natividad FF, Advincula J, Gwinn-Hardy K, Hardy J, Singleton A, Singleton A. Smell testing is abnormal in 'lubag' or X-linked dystonia-parkinsonism: a pilot study. Parkinsonism & Related Disorders. 10: 407-10. PMID 15465396 DOI: 10.1016/J.Parkreldis.2004.04.011  0.132
2011 Holmes MV, Newcombe P, Hubacek JA, Sofat R, Ricketts SL, Cooper J, Breteler MM, Bautista LE, Sharma P, Whittaker JC, Smeeth L, Fowkes FG, Algra A, Shmeleva V, Szolnoki Z, ... ... Singleton AB, et al. Effect modification by population dietary folate on the association between MTHFR genotype, homocysteine, and stroke risk: a meta-analysis of genetic studies and randomised trials. Lancet. 378: 584-94. PMID 21803414 DOI: 10.1016/S0140-6736(11)60872-6  0.132
2016 Levine ME, Lu AT, Chen BH, Hernandez DG, Singleton AB, Ferrucci L, Bandinelli S, Salfati E, Manson JE, Quach A, Kusters CD, Kuh D, Wong A, Teschendorff AE, Widschwendter M, et al. Menopause accelerates biological aging. Proceedings of the National Academy of Sciences of the United States of America. PMID 27457926 DOI: 10.1073/Pnas.1604558113  0.131
2012 Ross OA, Singleton AB. Does trans size matter in Huntington disease? Neurology. 78: 686-7. PMID 22323751 DOI: 10.1212/WNL.0b013e3182494d77  0.131
2010 Kapur K, Johnson T, Beckmann ND, Sehmi J, Tanaka T, Kutalik Z, Styrkarsdottir U, Zhang W, Marek D, Gudbjartsson DF, Milaneschi Y, Holm H, Diiorio A, Waterworth D, Li Y, ... Singleton AB, et al. Genome-wide meta-analysis for serum calcium identifies significantly associated SNPs near the calcium-sensing receptor (CASR) gene. Plos Genetics. 6: e1001035. PMID 20661308 DOI: 10.1371/Journal.Pgen.1001035  0.13
2011 Wain LV, Verwoert GC, O'Reilly PF, Shi G, Johnson T, Johnson AD, Bochud M, Rice KM, Henneman P, Smith AV, Ehret GB, Amin N, Larson MG, Mooser V, Hadley D, ... ... Singleton A, et al. Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. Nature Genetics. 43: 1005-11. PMID 21909110 DOI: 10.1038/Ng.922  0.13
2013 Khan TA, Shah T, Prieto D, Zhang W, Price J, Fowkes GR, Cooper J, Talmud PJ, Humphries SE, Sundstrom J, Hubacek JA, Ebrahim S, Lawlor DA, Ben-Shlomo Y, Abdollahi MR, ... ... Singleton A, et al. Apolipoprotein E genotype, cardiovascular biomarkers and risk of stroke: systematic review and meta-analysis of 14,015 stroke cases and pooled analysis of primary biomarker data from up to 60,883 individuals. International Journal of Epidemiology. 42: 475-92. PMID 23569189 DOI: 10.1093/Ije/Dyt034  0.129
2007 Clarimon J, Gray RR, Williams LN, Enoch MA, Robin RW, Albaugh B, Singleton A, Goldman D, Mulligan CJ. Linkage disequilibrium and association analysis of alpha-synuclein and alcohol and drug dependence in two American Indian populations. Alcoholism, Clinical and Experimental Research. 31: 546-54. PMID 17374033 DOI: 10.1111/J.1530-0277.2007.00338.X  0.129
2013 den Hoed M, Eijgelsheim M, Esko T, Brundel BJ, Peal DS, Evans DM, Nolte IM, Segrè AV, Holm H, Handsaker RE, Westra HJ, Johnson T, Isaacs A, Yang J, Lundby A, ... ... Singleton AB, et al. Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. Nature Genetics. 45: 621-31. PMID 23583979 DOI: 10.1038/Ng.2610  0.128
2012 Harries LW, Fellows AD, Pilling LC, Hernandez D, Singleton A, Bandinelli S, Guralnik J, Powell J, Ferrucci L, Melzer D. Advancing age is associated with gene expression changes resembling mTOR inhibition: evidence from two human populations. Mechanisms of Ageing and Development. 133: 556-62. PMID 22813852 DOI: 10.1016/J.Mad.2012.07.003  0.127
2008 Ludlow CL, Adler CH, Berke GS, Bielamowicz SA, Blitzer A, Bressman SB, Hallett M, Jinnah HA, Juergens U, Martin SB, Perlmutter JS, Sapienza C, Singleton A, Tanner CM, Woodson GE. Research priorities in spasmodic dysphonia. Otolaryngology--Head and Neck Surgery : Official Journal of American Academy of Otolaryngology-Head and Neck Surgery. 139: 495-505. PMID 18922334 DOI: 10.1016/J.Otohns.2008.05.624  0.127
2004 Singleton A, Hague S, Hernandez D. X-linked recessive dystonia parkinsonism (XDP; Lubag; DYT3) Advances in Neurology. 94: 139-142. PMID 14509666  0.127
2014 Driscoll I, Snively BM, Espeland MA, Shumaker SA, Rapp SR, Goveas JS, Casanova R, Wactawski-Wende J, Manson JE, Rossom RC, Brooks J, Hernandez DG, Singleton AB, Resnick SM. P4-011: A CANDIDATE GENE STUDY OF GENETIC RISK FOR DEMENTIA AND MILD COGNITIVE IMPAIRMENT (MCI) IN WOMEN AGED >65 YEARS: RESULTS FROM THE WOMEN's HEALTH INITIATIVE MEMORY STUDY (WHIMS) Alzheimer's & Dementia. 10: P787-P788. DOI: 10.1016/J.Jalz.2014.05.1525  0.127
2010 Traynor BJ, Singleton AB. Nature versus nurture: death of a dogma, and the road ahead. Neuron. 68: 196-200. PMID 20955927 DOI: 10.1016/J.Neuron.2010.10.002  0.127
2011 Thambisetty M, Beason-Held L, Kraut M, Nalls M, Hernandez D, Singleton A, Ferrucci L, Lovestone S, Resnick S. P1-267: Alzheimer Risk Variant Clusterin (CLU) and Brain Function During Aging Alzheimer's & Dementia. 7: S196-S196. DOI: 10.1016/J.Jalz.2011.05.547  0.126
2007 Kovac IP, Havlik RJ, Foley D, Peila R, Hernandez D, Wavrant-De Vrièze F, Singleton A, Egan J, Taub D, Rodriguez B, Masaki K, Curb JD, Fujimoto WY, Wilson AF. Linkage and association analyses of type 2 diabetes/impaired glucose metabolism and adiponectin serum levels in Japanese Americans from Hawaii. Diabetes. 56: 537-40. PMID 17259404 DOI: 10.2337/Db06-0443  0.126
2020 Kopelman NM, Stone L, Hernandez DG, Gefel D, Singleton AB, Heyer E, Feldman MW, Hillel J, Rosenberg NA. High-resolution inference of genetic relationships among Jewish populations. European Journal of Human Genetics : Ejhg. PMID 31919450 DOI: 10.1038/S41431-019-0542-Y  0.124
2015 Chuang YF, Tanaka T, Beason-Held LL, An Y, Terracciano A, Sutin AR, Kraut M, Singleton AB, Resnick SM, Thambisetty M. FTO genotype and aging: pleiotropic longitudinal effects on adiposity, brain function, impulsivity and diet. Molecular Psychiatry. 20: 133-39. PMID 24863145 DOI: 10.1038/Mp.2014.49  0.123
2008 Hardy J, Low N, Singleton A. Whole genome association studies: deciding when persistence becomes perseveration. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 147: 131-3. PMID 17541974 DOI: 10.1002/Ajmg.B.30568  0.122
2015 Fiandaca MS, Zhong X, Cheema AK, Orquiza MH, Chidambaram S, Tan MT, Gresenz CR, FitzGerald KT, Nalls MA, Singleton AB, Mapstone M, Federoff HJ. Plasma 24-metabolite Panel Predicts Preclinical Transition to Clinical Stages of Alzheimer's Disease. Frontiers in Neurology. 6: 237. PMID 26617567 DOI: 10.3389/Fneur.2015.00237  0.122
2020 Kim C, Beilina A, Smith N, Li Y, Kim M, Kumaran R, Kaganovich A, Mamais A, Adame A, Iba M, Kwon S, Lee WJ, Shin SJ, Rissman RA, You S, ... ... Singleton AB, et al. LRRK2 mediates microglial neurotoxicity via NFATc2 in rodent models of synucleinopathies. Science Translational Medicine. 12. PMID 33055242 DOI: 10.1126/scitranslmed.aay0399  0.122
2013 Singleton A, Buttle DJ. Ficain Handbook of Proteolytic Enzymes. 2: 1877-1879. DOI: 10.1016/B978-0-12-382219-2.00427-0  0.12
2010 Dupuis J, Langenberg C, Prokopenko I, Saxena R, Soranzo N, Jackson AU, Wheeler E, Glazer NL, Bouatia-Naji N, Gloyn AL, Lindgren CM, Mägi R, Morris AP, Randall J, Johnson T, ... ... Singleton A, et al. New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nature Genetics. 42: 105-16. PMID 20081858 DOI: 10.1038/Ng.520  0.119
2021 Johnson JO, Chia R, Miller DE, Li R, Kumaran R, Abramzon Y, Alahmady N, Renton AE, Topp SD, Gibbs JR, Cookson MR, Sabir MS, Dalgard CL, Troakes C, Jones AR, ... ... Singleton AB, et al. Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis. Jama Neurology. PMID 34459874 DOI: 10.1001/jamaneurol.2021.2598  0.118
2017 Saez-Atienzar S, Singleton AB. Parkinson Disease and Clathrin Coat Dynamics at Synapses, Why Not? Movement Disorders : Official Journal of the Movement Disorder Society. PMID 28681957 DOI: 10.1002/mds.27097  0.117
2015 Johnson JO, Stevanin G, van de Leemput J, Hernandez DG, Arepalli S, Forlani S, Zonozi R, Gibbs JR, Brice A, Durr A, Singleton AB. A 7.5-Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome. Movement Disorders : Official Journal of the Movement Disorder Society. 30: 262-6. PMID 25545641 DOI: 10.1002/mds.26059  0.117
2013 Hek K, Demirkan A, Lahti J, Terracciano A, Teumer A, Cornelis MC, Amin N, Bakshis E, Baumert J, Ding J, Liu Y, Marciante K, Meirelles O, Nalls MA, Sun YV, ... ... Singleton AB, et al. A genome-wide association study of depressive symptoms. Biological Psychiatry. 73: 667-78. PMID 23290196 DOI: 10.1016/J.Biopsych.2012.09.033  0.117
2017 Dillman AA, Majounie E, Ding J, Gibbs JR, Hernandez D, Arepalli S, Traynor BJ, Singleton AB, Galter D, Cookson MR. Transcriptomic profiling of the human brain reveals that altered synaptic gene expression is associated with chronological aging. Scientific Reports. 7: 16890. PMID 29203886 DOI: 10.1038/S41598-017-17322-0  0.117
2015 Schottlaender LV, Polke JM, Ling H, MacDoanld ND, Tucci A, Nanji T, Pittman A, de Silva R, Holton JL, Revesz T, Sweeney MG, Singleton AB, Lees AJ, Bhatia KP, Houlden H. Erratum to "The analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism" [Neurobiol. Aging 36 (2015) 1221.e1-1221.e6]. Neurobiology of Aging. 36: 1768. PMID 28843426 DOI: 10.1016/j.neurobiolaging.2015.02.027  0.117
2015 Mou Z, Hyde TM, Lipska BK, Martinowich K, Wei P, Ong CJ, Hunter LA, Palaguachi GI, Morgun E, Teng R, Lai C, Condarco TA, Demidowich AP, Krause AJ, Marshall LJ, ... ... Singleton AB, et al. Human Obesity Associated with an Intronic SNP in the Brain-Derived Neurotrophic Factor Locus. Cell Reports. PMID 26526993 DOI: 10.1016/J.Celrep.2015.09.065  0.116
2019 Bandres-Ciga S, Noyce AJ, Hemani G, Nicolas A, Calvo A, Mora G, Tienari PJ, Stone DJ, Nalls MA, Singleton AB, Chiò A, Traynor BJ. Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis. Annals of Neurology. PMID 30723964 DOI: 10.1002/Ana.25431  0.115
2017 Siitonen M, Börjesson-Hanson A, Pöyhönen M, Ora A, Pasanen P, Bras J, Kern S, Kern J, Andersen O, Stanescu H, Kleta R, Baumann M, Kalaria R, Kalimo H, Singleton A, et al. Multi-infarct dementia of Swedish type is caused by a 3'UTR mutation of COL4A1. Brain : a Journal of Neurology. PMID 28369186 DOI: 10.1093/Brain/Awx062  0.115
2017 Siitonen M, Hanson AB, Pasanen P, Bras JT, Kern S, Kern J, Andersen O, Stanescu H, Kleta R, Baumann M, Kalaria RN, Kalimo H, Singleton A, Hardy J, Myllykangas L, et al. Multi-Infarct Dementia Of Swedish Type Is Caused By 3’Utr Col4A1 Mutation Alzheimers & Dementia. 13: 973. DOI: 10.1016/J.Jalz.2017.06.1312  0.114
2005 Meschia JF, Brott TG, Brown RD, Crook R, Worrall BB, Kissela B, Brown WM, Rich SS, Case LD, Evans EW, Hague S, Singleton A, Hardy J, et al. Phosphodiesterase 4D and 5-lipoxygenase activating protein in ischemic stroke. Annals of Neurology. 58: 351-61. PMID 16130105 DOI: 10.1002/Ana.20585  0.114
2010 Barr TL, Conley Y, Ding J, Dillman A, Warach S, Singleton A, Matarin M. Genomic biomarkers and cellular pathways of ischemic stroke by RNA gene expression profiling. Neurology. 75: 1009-14. PMID 20837969 DOI: 10.1212/Wnl.0B013E3181F2B37F  0.114
2012 Kuhn A, Kumar A, Beilina A, Dillman A, Cookson MR, Singleton AB. Cell population-specific expression analysis of human cerebellum. Bmc Genomics. 13: 610. PMID 23145530 DOI: 10.1186/1471-2164-13-610  0.113
2007 Traynor BJ, Singleton A. Genome-wide association studies and ALS: are we there yet? The Lancet. Neurology. 6: 841-3. PMID 17884667 DOI: 10.1016/S1474-4422(07)70225-9  0.112
2017 Greenamyre JT, De Miranda BR, Bucher ML, Singleton AB, Tansey MG. The Gordon Research Seminar & Conference on Parkinson’s disease: state of the Science 200 years after James Parkinson’s essay on the Shaking Palsy Npj Parkinson's Disease. 3. DOI: 10.1038/S41531-017-0028-Y  0.111
2009 Singleton A. Risk alleles, DNA methylation and gene expression Alzheimers & Dementia. 5: 169. DOI: 10.1016/J.Jalz.2009.05.584  0.11
2005 Miller DW, Crawley A, Gwinn-Hardy K, Lopez G, Nussbaum R, Cookson MR, Singleton AB, Hardy J, Dogu O. Unaltered alpha-synuclein blood levels in juvenile Parkinsonism with a parkin exon 4 deletion. Neuroscience Letters. 374: 189-91. PMID 15663960 DOI: 10.1016/J.Neulet.2004.10.053  0.11
2010 Saxena R, Hivert MF, Langenberg C, Tanaka T, Pankow JS, Vollenweider P, Lyssenko V, Bouatia-Naji N, Dupuis J, Jackson AU, Kao WH, Li M, Glazer NL, Manning AK, Luan J, ... ... Singleton A, et al. Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge. Nature Genetics. 42: 142-8. PMID 20081857 DOI: 10.1038/Ng.521  0.109
2009 Tanaka T, Scheet P, Giusti B, Bandinelli S, Piras MG, Usala G, Lai S, Mulas A, Corsi AM, Vestrini A, Sofi F, Gori AM, Abbate R, Guralnik J, Singleton A, et al. Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations. American Journal of Human Genetics. 84: 477-82. PMID 19303062 DOI: 10.1016/J.Ajhg.2009.02.011  0.109
2015 Pilling LC, Joehanes R, Melzer D, Harries LW, Henley W, Dupuis J, Lin H, Mitchell M, Hernandez D, Ying SX, Lunetta KL, Benjamin EJ, Singleton A, Levy D, Munson P, et al. Gene expression markers of age-related inflammation in two human cohorts. Experimental Gerontology. PMID 26087330 DOI: 10.1016/J.Exger.2015.05.012  0.108
2010 Biffi A, Anderson CD, Nalls MA, Rahman R, Sonni A, Cortellini L, Rost NS, Matarin M, Hernandez DG, Plourde A, de Bakker PI, Ross OA, Greenberg SM, Furie KL, Meschia JF, ... Singleton AB, et al. Principal-component analysis for assessment of population stratification in mitochondrial medical genetics. American Journal of Human Genetics. 86: 904-17. PMID 20537299 DOI: 10.1016/J.Ajhg.2010.05.005  0.106
2011 Meschia JF, Nalls M, Matarin M, Brott TG, Brown RD, Hardy J, Kissela B, Rich SS, Singleton A, Hernandez D, Ferrucci L, Pearce K, Keller M, Worrall BB. Siblings with ischemic stroke study: results of a genome-wide scan for stroke loci. Stroke; a Journal of Cerebral Circulation. 42: 2726-32. PMID 21940970 DOI: 10.1161/Strokeaha.111.620484  0.106
2011 Yaghootkar H, Hernandez D, Nalls M, Wood A, Gibbs R, Harries L, Chong S, Moore M, Guralnik J, Bandinell S, Murray A, Ferrucci L, Singleton A, Melzer D, Frayling T. Identifying likely causal connections between gene expression levels using a Mendelian randomization approach Clinical Biochemistry. 44: S294. DOI: 10.1016/J.Clinbiochem.2011.08.739  0.105
1932 Singleton AO. Operations upon the sympathetic nervous system for arterial disease of the lower extremities: Experimental and clinical observations Southern Medical Journal. 25: 26-29.  0.104
2015 Moore AZ, Hernandez DG, Tanaka T, Pilling LC, Nalls MA, Bandinelli S, Singleton AB, Ferrucci L. Change in Epigenome-Wide DNA Methylation Over 9 Years and Subsequent Mortality: Results From the InCHIANTI Study. The Journals of Gerontology. Series a, Biological Sciences and Medical Sciences. PMID 26355017 DOI: 10.1093/Gerona/Glv118  0.104
2016 Mapstone M, Lin F, Nalls MA, Cheema AK, Singleton AB, Fiandaca MS, Federoff HJ. What success can teach us about failure: the plasma metabolome of older adults with superior memory and lessons for Alzheimer's disease. Neurobiology of Aging. PMID 27939698 DOI: 10.1016/J.Neurobiolaging.2016.11.007  0.103
2010 Dupuis J, Langenberg C, Prokopenko I, Saxena R, Soranzo N, Jackson AU, Wheeler E, Glazer NL, Bouatia-Naji N, Gloyn AL, Lindgren CM, Mägi R, Morris AP, Randall J, Johnson T, ... ... Singleton A, et al. Erratum: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk Nature Genetics. 42: 464-464. DOI: 10.1038/Ng0510-464A  0.102
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