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Mol Neurodegener 12(1):35 2017
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Celestino-Soper PB, Gao H, Lynnes TC, Lin H, Liu Y, Spoonamore KG, Chen PS and Vatta M, Validation and Utilization of a Clinical Next-Generation Sequencing Panel for Selected Cardiovascular Disorders.
Front Cardiovasc Med 4:11 2017
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Dennis MY, Harshman L, Nelson BJ, Penn O, Cantsilieris S, Huddleston J, Antonacci F, Penewit K, Denman L, Raja A, Baker C, Mark K, Malig M, Janke N, Espinoza C, Stessman HAF, Nuttle X, Hoekzema K, Lindsay-Graves TA, Wilson RK and Eichler EE, The evolution and population diversity of human-specific segmental duplications.
Nat Ecol Evol 1(3):69 2017
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Epi Kc and Epilepsy Phenome/Genome P, Ultra-rare genetic variation in common epilepsies: a case-control sequencing study.
Lancet Neurol 16(2):135-143 2017
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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 2012   
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Lacaze P, Ryan J, Woods R, Winship I and McNeil J, Pathogenic variants in the healthy elderly: unique ethical and practical challenges.
J Med Ethics 43(10):714-722 2017
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Larsson SC, Scott RA, Traylor M, Langenberg CC, Hindy G, Melander O, Orho-Melander M, Seshadri S, Wareham NJ, Markus HS, Collaboration M and Network NSG, Type 2 diabetes, glucose, insulin, BMI, and ischemic stroke subtypes: Mendelian randomization study.
Neurology 89(5):454-460 2017
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Ludtmann MHR, Arber C, Bartolome F, de Vicente M, Preza E, Carro E, Houlden H, Gandhi S, Wray S and Abramov AY, Mutations in valosin-containing protein (VCP) decrease ADP/ATP translocation across the mitochondrial membrane and impair energy metabolism in human neurons.
J Biol Chem 292(21):8907-8917 2017
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Mackenzie IR, Nicholson AM, Sarkar M, Messing J, Purice MD, Pottier C, Annu K, Baker M, Perkerson RB, Kurti A, Matchett BJ, Mittag T, Temirov J, Hsiung GR, Krieger C, Murray ME, Kato M, Fryer JD, Petrucelli L, Zinman L, Weintraub S, Mesulam M, Keith J, Zivkovic SA, Hirsch-Reinshagen V, Roos RP, Zuchner S, Graff-Radford NR, Petersen RC, Caselli RJ, Wszolek ZK, Finger E, Lippa C, Lacomis D, Stewart H, Dickson DW, Kim HJ, Rogaeva E, Bigio E, Boylan KB, Taylor JP and Rademakers R, TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics.
Neuron 95(4):808-816 e809 2017
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Mandel M, de Una-Alvarez J, Simon DK and Betensky RA, Inverse probability weighted Cox regression for doubly truncated data.
Biometrics 2017
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Morgan AR, Touchard S, O'Hagan C, Sims R, Majounie E, Escott-Price V, Jones L, Williams J and Morgan BP, The Correlation between Inflammatory Biomarkers and Polygenic Risk Score in Alzheimer's Disease.
J Alzheimers Dis 56(1):25-36 2017
PubMed ID:27911318

Alcalay RN, Caccappolo E, Mejia-Santana H, Tang M-, Rosado L, Orbe Reilly M, Ruiz D, Ross B, Verbitsky M, Kisselev S, Louis E, Comella C, Colcher A, Jennings D, Nance M, Bressman S, Scott WK, Tanner C, Mickel S, Andrews H, Waters C, Fahn S, Cote L, Frucht S, Ford B, Rezak M, Novak K, Friedman JH, Pfeiffer R, Marsh L, Hiner B, Siderowf A, Payami H, Molho E, Factor S, Ottman R, Clark LN, Marder K, Cognitive performance of GBA mutation carriers with early-onset PD: the CORE-PD study. 
Neurology 78:1434-40 2012 
PubMed ID: 22442429 

Pehlivan D, Beck CR, Okamoto Y, Harel T, Akdemir ZH, Jhangiani SN, Withers MA, Goksungur MT, Carvalho CM, Czesnik D, Gonzaga-Jauregui C, Wiszniewski W, Muzny DM, Gibbs RA, Rautenstrauss B, Sereda MW and Lupski JR, The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.
Genet Med 18(5):443-451 2016
PubMed ID:26378787

Rue L, Banez-Coronel M, Creus-Muncunill J, Giralt A, Alcala-Vida R, Mentxaka G, Kagerbauer B, Zomeno-Abellan MT, Aranda Z, Venturi V, Perez-Navarro E, Estivill X and Marti E, Targeting CAG repeat RNAs reduces Huntington's disease phenotype independently of huntingtin levels.
J Clin Invest 126(11):4319-4330 2016
PubMed ID:27721240

Smith BN, Topp SD, Fallini C, Shibata H, Chen HJ, Troakes C, King A, Ticozzi N, Kenna KP, Soragia-Gkazi A, Miller JW, Sato A, Dias DM, Jeon M, Vance C, Wong CH, de Majo M, Kattuah W, Mitchell JC, Scotter EL, Parkin NW, Sapp PC, Nolan M, Nestor PJ, Simpson M, Weale M, Lek M, Baas F, Vianney de Jong JM, Ten Asbroek A, Redondo AG, Esteban-Perez J, Tiloca C, Verde F, Duga S, Leigh N, Pall H, Morrison KE, Al-Chalabi A, Shaw PJ, Kirby J, Turner MR, Talbot K, Hardiman O, Glass JD, De Belleroche J, Maki M, Moss SE, Miller C, Gellera C, Ratti A, Al-Sarraj S, Brown RH, Jr., Silani V, Landers JE and Shaw CE, Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis.
Sci Transl Med 9(388) 2017
PubMed ID:28469040

Zhang M, Mu H, Shang Z, Kang K, Lv H, Duan L, Li J, Chen X, Teng Y, Jiang Y and Zhang R, Genome-wide pathway-based association analysis identifies risk pathways associated with Parkinson's disease.
Neuroscience 340:398-410 2017
PubMed ID:27840232

Klassen T, Davis C, Goldman A, Burgess D, Chen T, Wheeler D, McPherson J, Bourquin T, Lewis L, Villasana D, Morgan M, Muzny D, Gibbs R, Noebels J, Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy. 
Cell 145:1036-48 2011 
PubMed ID: 21703448 

Lisabeth LD, Morgenstern LB, Burke DT, Sun YV, Long JC, Ancestral heterogeneity in a biethnic stroke population. 
Annals of human genetics 75:508-15 2011 
PubMed ID: 21668907 

Alcalay RN, Siderowf A, Ottman R, Caccappolo E, Mejia-Santana H, Tang MX, Rosado L, Louis E, Ruiz D, Waters C, Fahn S, Cote L, Frucht S, Ford B, Orbe-Reilly M, Ross B, Verbitsky M, Kisselev S, Comella C, Colcher A, Jennings D, Nance M, Bressman S, Scott WK, Tanner C, Mickel S, Rezak M, Novak KE, Friedman JH, Pfeiffer R, Marsh L, Hiner B, Clark LN, Marder K, Olfaction in Parkin heterozygotes and compound heterozygotes: the CORE-PD study. 
Neurology 76:319-26 2010 
PubMed ID: 21205674 

Shoulson, Ira, Therapeutic Directions for Parkinson’s Disease. 
Movement Disorders 25:S152-S154 2010 
PubMed ID: 20187232 

Alcalay RN, Mejia-Santana H, Tang MX, Rosado L, Verbitsky M, Kisselev S, Ross BM, Louis ED, Comella CL, Colcher A, Jennings D, Nance MA, Bressman S, Scott WK, Tanner C, Mickel SF, Andrews HF, Waters CH, Fahn S, Cote LJ, Frucht SJ, Ford B, Rezak M, Novak K, Friedman JH, Pfeiffer R, Marsh L, Hiner B, Siderowf A, Caccappolo E, Ottman R, Clark LN, Marder KS., Motor Phenotype of LRRK2 G2019S Carriers in Early-Onset Parkinson Disease. 
Archives of Neurology 66:12:1517-22 2009 
PubMed ID: 20008657

Ross OA, Heckman MG, Soto AI, Diehl NN, Haugarvoll K, Vilariño-Güell C, Aasly JO, Sando S, Gibson JM, Lynch T, Krygowska-Wajs A, Opala G, Barcikowska M, Czyzewski K, Uitti RJ, Wszolek ZK, Farrer MJ, Dopamine beta-hydroxylase -1021C>T association and Parkinson's disease. 
Parkinsonism & related disorders 14:544-7 2008 
PubMed ID: 18722802 

Landers JE, Shi L, Cho TJ, Glass JD, Shaw CE, Leigh PN, Diekstra F, Polak M, Rodriguez-Leyva I, Niemann S, Traynor BJ, McKenna-Yasek D, Sapp PC, Al-Chalabi A, Wills AM, Brown RH, A common haplotype within the PON1 promoter region is associated with sporadic ALS. 
Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases 9:306-14 2008 
PubMed ID: 18618303 

Shinnar S, Hesdorffer DC, Nordli DR, Pellock JM, O'Dell C, Lewis DV, Frank LM, Moshé SL, Epstein LG, Marmarou A, Bagiella E, FEBSTAT Study Team E, Phenomenology of prolonged febrile seizures: results of the FEBSTAT study. 
Neurology 71:170-6 2008 
PubMed ID: 18525033 

Wang Y, Clark LN, Louis ED, Mejia-Santana H, Harris J, Cote LJ, Waters C, Andrews H, Ford B, Frucht S, Fahn S, Ottman R, Rabinowitz D, Marder K, Risk of Parkinson disease in carriers of parkin mutations: estimation using the kin-cohort method. 
Archives of neurology 65:467-74 2008 
PubMed ID: 18413468 

Foroud T, Sauerbeck L, Brown R, Anderson C, Woo D, Kleindorfer D, Flaherty ML, Deka R, Hornung R, Meissner I, Bailey-Wilson JE, Rouleau G, Connolly ES, Lai D, Koller DL, Huston J, Broderick JP, FIA Study Investigators JP, Genome screen to detect linkage to intracranial aneurysm susceptibility genes: the Familial Intracranial Aneurysm (FIA) study. 
Stroke; a journal of cerebral circulation 39:1434-40 2008 
PubMed ID: 18323491 

Leslie-Mazwi TM, Brott TG, Brown RD, Worrall BB, Silliman SL, Case LD, Frankel MR, Rich SS, Meschia JF, Sex differences in stroke evaluations in the Ischemic Stroke Genetics Study. 
Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association 16:187-93 2006 
PubMed ID: 17845914 

Matarin M, Brown WM, Hardy JA, Rich SS, Singleton AB, Brown RD, Brott TG, Worrall BB, Meschia JF, SWISS Study Group JF, ISGS Study Group JF, MSGD Study Group 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 2007 
PubMed ID: 17534386 

Worrall BB, Brott TG, Brown RD, Brown WM, Rich SS, Arepalli S, Wavrant-De Vrièze F, Duckworth J, Singleton AB, Hardy J, Meschia JF, SWISS, ISGS, and MSGD Investigators JF, IL1RN VNTR polymorphism in ischemic stroke: analysis in 3 populations. 
Stroke; a journal of cerebral circulation 38:1189-96 2007 
PubMed ID: 17332449 

Kaufmann P, Mitsumoto H, ALSRG Database Task Force Steering Committee H, ALSRG Members H, ALS Research Group H, ALS Research Group (ALSRG): second meeting, a summary report. 
Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases 7:252-5 2006 
PubMed ID: 17127566 

Scholz S, Mandel RJ, Fernandez HH, Foote KD, Rodriguez RL, Barton E, Munson S, Singleton A, Okun MS, LRRK2 mutations in a clinic-based cohort of Parkinson's disease. 
European journal of neurology : the official journal of the European Federation of Neurological Societies 13:1298-301 2006 
PubMed ID: 17116211 

Haugarvoll K, Uitti RJ, Farrer MJ, Wszolek ZK, LRRK2 gene and tremor-dominant parkinsonism. 
Archives of neurology 63:1346-7 2006 
PubMed ID: 16966525 

Momeni P, Rogaeva E, Van Deerlin V, Yuan W, Grafman J, Tierney M, Huey E, Bell J, Morris CM, Kalaria RN, van Rensburg SJ, Niehaus D, Potocnik F, Kawarai T, Salehi-Rad S, Sato C, St George-Hyslop P, Hardy J, Genetic variability in CHMP2B and frontotemporal dementia. 
Neuro-degenerative diseases 3:129-33 2006 
PubMed ID: 16954699 

Limdi NA, Beasley TM, Allison DB, Rivers CA, Acton RT, Racial differences in the prevalence of Factor V Leiden mutation among patients on chronic warfarin therapy. 
Blood cells, molecules & diseases 37:100-6 2006 
PubMed ID: 16889993 

Sun M, Latourelle JC, Wooten GF, Lew MF, Klein C, Shill HA, Golbe LI, Mark MH, Racette BA, Perlmutter JS, Parsian A, Guttman M, Nicholson G, Xu G, Wilk JB, Saint-Hilaire MH, DeStefano AL, Prakash R, Williamson S, Suchowersky O, Labelle N, Growdon JH, Singer C, Watts RL, Goldwurm S, Pezzoli G, Baker KB, Pramstaller PP, Burn DJ, Chinnery PF, Sherman S, Vieregge P, Litvan I, Gillis T, MacDonald ME, Myers RH, Gusella JF, Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study. 
Archives of neurology 63:826-32 2006 
PubMed ID: 16769863 

Zaroff JG, Pawlikowska L, Miss JC, Yarlagadda S, Ha C, Achrol A, Kwok PY, McCulloch CE, Lawton MT, Ko N, Smith W, Young WL, Adrenoceptor polymorphisms and the risk of cardiac injury and dysfunction after subarachnoid hemorrhage. 
Stroke; a journal of cerebral circulation 37:1680-5 2006 
PubMed ID: 16728691 

Farrer MJ, Haugarvoll K, Ross OA, Stone JT, Milkovic NM, Cobb SA, Whittle AJ, Lincoln SJ, Hulihan MM, Heckman MG, White LR, Aasly JO, Gibson JM, Gosal D, Lynch T, Wszolek ZK, Uitti RJ, Toft M, Genomewide association, Parkinson disease, and PARK10. 
American journal of human genetics 78:1084-8; author reply 1092-4 2006 
PubMed ID: 16685661 

Clarimon J, Scholz S, Fung HC, Hardy J, Eerola J, Hellstrom O, Chen CM, Wu YR, Tienari PJ, Singleton A, Conflicting results regarding the semaphorin gene (SEMA5A) and the risk for Parkinson disease. 
American journal of human genetics 78:1082-4; author reply 1092-4 2006 
PubMed ID: 16685660 

Pawlikowska L, Poon KY, Achrol AS, McCulloch CE, Ha C, Lum K, Zaroff JG, Ko NU, Johnston SC, Sidney S, Marchuk DA, Lawton MT, Kwok PY, Young WL, Apolipoprotein E epsilon 2 is associated with new hemorrhage risk in brain arteriovenous malformations. 
Neurosurgery 58:838-43; discussion 838-43 2006 
PubMed ID: 16639317 

Clark LN, Afridi S, Karlins E, Wang Y, Mejia-Santana H, Harris J, Louis ED, Cote LJ, Andrews H, Fahn S, Waters C, Ford B, Frucht S, Ottman R, Marder K, Case-control study of the parkin gene in early-onset Parkinson disease. 
Archives of neurology 63:548-52 2006 
PubMed ID: 16606767 

Meschia JF, Kissela BM, Brott TG, Brown RD, Worrall BB, Beck J, Skarp AN, The Siblings With Ischemic Stroke Study (SWISS): a progress report. 
Clinical medicine & research 4:12-21 2006 
PubMed ID: 16595789 

Woo D, Sekar P, Chakraborty R, Haverbusch MA, Flaherty ML, Kissela BM, Kleindorfer D, Schneider A, Khoury J, Sauerbeck LR, Deka R, Broderick JP, Genetic Epidemiology of Intracerebral Hemorrhage. 
J Stroke Cerebrovasc Dis 14:239-243 2005 
PubMed ID: 16557295 

Woo D, Kaushal R, Kissela B, Sekar P, Wolujewicz M, Pal P, Alwell K, Haverbusch M, Ewing I, Miller R, Kleindorfer D, Flaherty M, Chakraborty R, Deka R, Broderick J, Association of Phosphodiesterase 4D with ischemic stroke: a population-based case-control study. 
Stroke; a journal of cerebral circulation 37:371-6 2006 
PubMed ID: 16373644 

Achrol AS, Pawlikowska L, McCulloch CE, Poon KY, Ha C, Zaroff JG, Johnston SC, Lee C, Lawton MT, Sidney S, Marchuk DA, Kwok PY, Young WL, UCSF BAVM Study Project WL, Tumor necrosis factor-alpha-238G>A promoter polymorphism is associated with increased risk of new hemorrhage in the natural course of patients with brain arteriovenous malformations. 
Stroke; a journal of cerebral circulation 37:231-4 2005 
PubMed ID: 16322490 

Chen Y, Pawlikowska L, Yao JS, Shen F, Zhai W, Achrol AS, Lawton MT, Kwok PY, Yang GY, Young WL, Interleukin-6 involvement in brain arteriovenous malformations. 
Annals of neurology 59:72-80 2006 
PubMed ID: 16278864 

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 394:33-6 2006 
PubMed ID: 16257123 

Pawlikowska L, Tran MN, Achrol AS, Ha C, Burchard E, Choudhry S, Zaroff J, Lawton MT, Castro R, McCulloch CE, Marchuk D, Kwok PY, Young WL, UCSF BAVM Study Project WL, Polymorphisms in transforming growth factor-beta-related genes ALK1 and ENG are associated with sporadic brain arteriovenous malformations. 
Stroke; a journal of cerebral circulation 36:2278-80 2005 
PubMed ID: 16179574 

Mata IF, Kachergus JM, Taylor JP, Lincoln S, Aasly J, Lynch T, Hulihan MM, Cobb SA, Wu RM, Lu CS, Lahoz C, Wszolek ZK, Farrer MJ, Lrrk2 pathogenic substitutions in Parkinson's disease. 
Neurogenetics 6:171-7 2005 
PubMed ID: 16172858 

Foroud T, LRRK2: both a cause and a risk factor for Parkinson disease?. 
Neurology 65:664-5 2005 
PubMed ID: 16157895 

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, SWISS Study Group J, ISGS Study Group J, MSGD Study Group J, Phosphodiesterase 4D and 5-lipoxygenase activating protein in ischemic stroke. 
Annals of neurology 58:351-61 2005 
PubMed ID: 16130105 

Pankratz N, Byder L, Halter C, Rudolph A, Shults CW, Conneally PM, Foroud T, Nichols WC, Presence of an APOE4 allele results in significantly earlier onset of Parkinson's disease and a higher risk with dementia. 
Movement disorders : official journal of the Movement Disorder Society 21:45-9 2005 
PubMed ID: 16116614 

Hernandez D, Paisan Ruiz C, Crawley A, Malkani R, Werner J, Gwinn-Hardy K, Dickson D, Wavrant Devrieze F, Hardy J, Singleton A, The dardarin G 2019 S mutation is a common cause of Parkinson's disease but not other neurodegenerative diseases. 
Neuroscience letters 389:137-9 2005 
PubMed ID: 16102903 

Howard TD, Giles WH, Xu J, Wozniak MA, Malarcher AM, Lange LA, Macko RF, Basehore MJ, Meyers DA, Cole JW, Kittner SJ, Promoter polymorphisms in the nitric oxide synthase 3 gene are associated with ischemic stroke susceptibility in young black women. 
Stroke; a journal of cerebral circulation 36:1848-51 2005 
PubMed ID: 16100023 

Woo D, Kaushal R, Chakraborty R, Woo J, Haverbusch M, Sekar P, Kissela B, Pancioli A, Jauch E, Kleindorfer D, Flaherty M, Schneider A, Khatri P, Sauerbeck L, Khoury J, Deka R, Broderick J, Association of apolipoprotein E4 and haplotypes of the apolipoprotein E gene with lobar intracerebral hemorrhage. 
Stroke; a journal of cerebral circulation 36:1874-9 2005 
PubMed ID: 16100021 

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 2006 
PubMed ID: 16084104 

Adams JR, van Netten H, Schulzer M, Mak E, Mckenzie J, Strongosky A, Sossi V, Ruth TJ, Lee CS, Farrer M, Gasser T, Uitti RJ, Calne DB, Wszolek ZK, Stoessl AJ, PET in LRRK2 mutations: comparison to sporadic Parkinson's disease and evidence for presymptomatic compensation. 
Brain : a journal of neurology 128:2777-85 2005 
PubMed ID: 16081470 

Cronin S, Furie KL, Kelly PJ, Dose-related association of MTHFR 677T allele with risk of ischemic stroke: evidence from a cumulative meta-analysis. 
Stroke; a journal of cerebral circulation 36:1581-7 2005 
PubMed ID: 15947278 

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, Wood NW, Dürr A, 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 2005 
PubMed ID: 15924299 

Broderick JP, Sauerbeck LR, Foroud T, Huston J, Pankratz N, Meissner I, Brown RD, The Familial Intracranial Aneurysm (FIA) study protocol. 
BMC medical genetics 6:17 2005 
PubMed ID: 15854227 

Dlugos DJ, Scattergood TM, Ferraro TN, Berrettinni WH, Buono RJ, Recruitment rates and fear of phlebotomy in pediatric patients in a genetic study of epilepsy. 
Epilepsy & behavior 6:444-6 2005 
PubMed ID: 15820358 

Kachergus J, Mata IF, Hulihan M, Taylor JP, Lincoln S, Aasly J, Gibson JM, Ross OA, Lynch T, Wiley J, Payami H, Nutt J, Maraganore DM, Czyzewski K, Styczynska M, Wszolek ZK, Farrer MJ, Toft M, Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism: evidence of a common founder across European populations. 
American journal of human genetics 76:672-80 2004 
PubMed ID: 15726496 

Nichols WC, Pankratz N, Hernandez D, Paisán-Ruíz C, Jain S, Halter CA, Michaels VE, Reed T, Rudolph A, Shults CW, Singleton A, Foroud T, Parkinson Study Group-PROGENI investigators T, Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease. 
Lancet 365:410-2 2005 
PubMed ID: 15680455 

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 2005 
PubMed ID: 15663960 

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 Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 133:120-3 2005 
PubMed ID: 15635662 

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, Fernandez HH, Postuma R, Foote KD, Salehi-Rad S, Liang Y, Reimsnider S, Tandon A, Hardy J, St George-Hyslop P, Singleton AB, Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease. 
Archives of neurology 61:1898-904 2004 
PubMed ID: 15596610 

Meschia JF, Worrall BB, New advances in identifying genetic anomalies in stroke-prone probands. 
Current neurology and neuroscience reports 4:420-6 2004 
PubMed ID: 15324609 

Walz R, Castro RM, Landemberger MC, Velasco TR, Terra-Bustamante VC, Bastos AC, Bianchin M, Wichert-Ana L, Araújo D, Alexandre V, Santos AC, Machado HR, Carlotti CG, Brentani RR, Martins VR, Sakamoto AC, Cortical malformations are associated with a rare polymorphism of cellular prion protein. 
Neurology 63:557-60 2004 
PubMed ID: 15304595 

Johnson J, Hague SM, Hanson M, Gibson A, Wilson KE, Evans EW, Singleton AA, McInerney-Leo A, Nussbaum RL, Hernandez DG, Gallardo M, McKeith IG, Burn DJ, Ryu M, Hellstrom O, Ravina B, Eerola J, Perry RH, Jaros E, Tienari P, Weiser R, Gwinn-Hardy K, Morris CM, Hardy J, Singleton AB, SNCA multiplication is not a common cause of Parkinson disease or dementia with Lewy bodies. 
Neurology 63:554-6 2004 
PubMed ID: 15304594 

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 2004 
PubMed ID: 14736756 

El-Agnaf OM, Salem SA, Paleologou KE, Cooper LJ, Fullwood NJ, Gibson MJ, Curran MD, Court JA, Mann DM, Ikeda S, Cookson MR, Hardy J, Allsop D, Alpha-synuclein implicated in Parkinson's disease is present in extracellular biological fluids, including human plasma. 
The FASEB journal : official publication of the Federation of American Societies for Experimental Biology 17:1945-7 2003 
PubMed ID: 14519670 

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, Pittman A, Orrell RW, Malaspina A, Sidle KC, Fratta P, Harms MB, Baloh RH, Pestronk A, Weihl CC, Rogaeva E, Zinman L, Drory VE, Borghero G, Mora G, Calvo A, Rothstein JD, ITALSGEN JD, Drepper C, Sendtner M, Singleton AB, Taylor JP, Cookson MR, Restagno G, Sabatelli M, Bowser R, Chiò A, Traynor BJ, Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis. 
Nature neuroscience 17:664-6 2013 
PubMed ID: 24686783 

Cady J, Koval ED, Benitez BA, Zaidman C, Jockel-Balsarotti J, Allred P, Baloh RH, Ravits J, Simpson E, Appel SH, Pestronk A, Goate AM, Miller TM, Cruchaga C, Harms MB, TREM2 Variant pR47H as a Risk Factor for Sporadic Amyotrophic Lateral Sclerosis. 
JAMA neurology 71:449-53 2014 
PubMed ID: 24535663 

Yager JR, Gasparovic C, Magnotta VA, Adams W, Fiedorowicz J, Paulsen J, Jorge R, Beglinger LJ, Preliminary study of the association of white-matter metabolite concentrations with disease severity in patients with Huntington's disease. 
The Journal of neuropsychiatry and clinical neurosciences 26:101-4 2014 
PubMed ID: 24515683 

van Blitterswijk M, Mullen B, Nicholson AM, Bieniek KF, Heckman MG, Baker MC, DeJesus-Hernandez M, Finch NA, Brown PH, Murray ME, Hsiung GY, Stewart H, Karydas AM, Finger E, Kertesz A, Bigio EH, Weintraub S, Mesulam M, Hatanpaa KJ, White CL, Strong MJ, Beach TG, Wszolek ZK, Lippa C, Caselli R, Petrucelli L, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Mackenzie IR, Seeley WW, Grinberg LT, Miller BL, Boylan KB, Graff-Radford NR, Boeve BF, Dickson DW, Rademakers R, TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia. 
Acta neuropathologica 127:397-406 2013 
PubMed ID: 24385136 

Renton AE, Chio A, Traynor BJ, State of play in amyotrophic lateral sclerosis genetics. 
Nature Neuroscience 17(1):17-23 2014 
PubMed ID: 24369373 

Lewis DV, Shinnar S, Hesdorffer DC, Bagiella E, Bello JA, Chan S, Xu Y, MacFall J, Gomes WA, Moshé SL, Mathern GW, Pellock JM, Nordli DR, Frank LM, Provenzale J, Shinnar RC, Epstein LG, Masur D, Litherland C, Sun S, FEBSTAT Study Team S, Hippocampal sclerosis after febrile status epilepticus: the FEBSTAT study. 
Annals of neurology 75:178-85 2013 
PubMed ID: 24318290 

Dichgans M, Malik R, König IR, Rosand J, Clarke R, Gretarsdottir S, Thorleifsson G, Mitchell BD, Assimes TL, Levi C, O'Donnell CJ, Fornage M, Thorsteinsdottir U, Psaty BM, Hengstenberg C, Seshadri S, Erdmann J, Bis JC, Peters A, Boncoraglio GB, März W, Meschia JF, Kathiresan S, Ikram MA, McPherson R, Stefansson K, Sudlow C, Reilly MP, Thompson JR, Sharma P, Hopewell JC, Chambers JC, Watkins H, Rothwell PM, Roberts R, Markus HS, Samani NJ, Farrall M, Schunkert H, Gschwendtner A, Bevan S, Chen YC, DeStefano AL, Parati EA, Quertermous T, Ziegler A, Boerwinkle E, Holm H, Fischer M, Kessler T, Willenborg C, Laaksonen R, Voight BF, Stewart AF, Rader DJ, Hall AS, Kooner JS, METASTROKE Consortium JS, CARDIoGRAM consortium JS, C4D consortium JS, International Stroke Genetics Consortium JS, Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants. 
Stroke; a journal of cerebral circulation 45:24-36 2013 
PubMed ID: 24262325 

Alcalay RN, Caccappolo E, Mejia-Santana H, Tang MX, Rosado L, Orbe Reilly M, Ruiz D, Louis ED, Comella CL, Nance MA, Bressman SB, Scott WK, Tanner CM, Mickel SF, Waters CH, Fahn S, Cote LJ, Frucht SJ, Ford B, Rezak M, Novak KE, Friedman JH, Pfeiffer RF, Marsh L, Hiner B, Payami H, Molho E, Factor SA, Nutt JG, Serrano C, Arroyo M, Ottman R, Pauciulo MW, Nichols WC, Clark LN, Marder KS, Cognitive and motor function in long-duration PARKIN-associated Parkinson disease. 
JAMA neurology 71:62-7 2013 
PubMed ID: 24190026 

Wan JY, Edwards KL, Hutter CM, Mata IF, Samii A, Roberts JW, et al, Association mapping of the PARK10 region for Parkinson's disease susceptibility genes. 
Parkinsonism Related Disorders 13:00355-6 2013 
PubMed ID: 24156912 

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, Meschia JF, NOTCH3 variants and risk of ischemic stroke. 
PloS one 8:e75035 2013 
PubMed ID: 24086431 

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, Hardy J, Martinez M, Singleton AB; for the International Parkinson's Disease Genomics Consortium (IPDGC); The Wellcome Trust Case Control Consortium 2 (WTCCC2); North American Brain Expression Consortium (NABEC); the United Kingdom Brain Expression Consortium (UKBEC)., Genetic comorbidities in Parkinson's disease.. 
Human Molecular Genetics : 2013 
PubMed ID: 24057672 

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 80:202-2048 2013 
PubMed ID: 23645593 

Hesdorffer DC, Shinnar S, Lewis DV, Moshé SL, Nordli DR, Pellock JM, Macfall J, Shinnar RC, Masur D, Frank LM, Epstein LG, Litherland C, Seinfeld S, Bello JA, Chan S, Bagiella E, Sun S, the FEBSTAT study team S, Design and phenomenology of the FEBSTAT study. 
Epilepsia 53(9):1471-1480 2012 
PubMed ID: 22742587 

Nesbitt G, McKenna K, Mays V, Carpenter A, Miller K, Williams M, The EPGP Investigators, The Epilepsy Phenome/Genome Project (EPGP) informatics platform. 
International journal of medical informatics : 2012 
PubMed ID: 22579394 

Wolf SM, Crock BN, Van Ness B, Lawrenz F, Kahn JP, Beskow LM, Cho MK, Christman MF, Green RC, Hall R, Illes J, Keane M, Knoppers BM, Koenig BA, Kohane IS, Leroy B, Maschke KJ, McGeveran W, Ossorio P, Parker LS, Petersen GM, Richardson HS, Scott JA, Terry SF, Wilfond BS, Wolf WA, Managing incidental findings and research results in genomic research involving biobanks and archived data sets. 
Genetics in medicine : official journal of the American College of Medical Genetics 14:361-84 2012 
PubMed ID: 22436882 

Shriner D, Vaughan LK, A unified framework for multi-locus association analysis of both common and rare variants. 
BMC genomics 12:89 2010 
PubMed ID: 21281506 

Cundiff PE, Anderson SA, Impact of induced pluripotent stem cells on the study of central nervous system disease. 
Current opinion in genetics & development 21(3):354-61 2011 
PubMed ID: 21277194 

Chen DT, Case LD, Brott TG, Brown RD, Silliman SL, Meschia JF, Worrall BB, ISGS Investigators BB, Impact of restricting enrollment in stroke genetics research to adults able to provide informed consent. 
Stroke; a journal of cerebral circulation 39:831-7 2008 
PubMed ID: 18258838 

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, Sherman A, Mailman MD, Ostell J, Bruijn L, Cwik V, Rich SS, Singleton A, Refolo L, Andrews J, Zhang R, Conwit R, Keller MA, for The ALS Research Group MA, Amyotrophic lateral sclerosis: an emerging era of collaborative gene discovery. 
PLoS ONE 2:e1254 2007 
PubMed ID: 18060051 

Schymick JC, Talbot K, Traynor BJ, Genetics of sporadic amyotrophic lateral sclerosis. 
Human molecular genetics 16 Spec No. 2:R233-42 2007 
PubMed ID: 17911166 

Ross OA, Worrall BB, Meschia JF, Advancing stroke therapeutics through genetic understanding. 
Current drug targets 8:850-9 2007 
PubMed ID: 17630939 

Rotimi C, Leppert M, Matsuda I, Zeng C, Zhang H, Adebamowo C, Ajayi I, Aniagwu T, Dixon M, Fukushima Y, Macer D, Marshall P, Nkwodimmah C, Peiffer A, Royal C, Suda E, Zhao H, Wang VO, McEwen J, International HapMap Consortium J, Community engagement and informed consent in the International HapMap project. 
Community genetics 10:186-98 2007 
PubMed ID: 17575464 

[no authors listed], Biomarkers to improve cancer detection. 
Q Links - Pharmacogenomics 7(7):965-967 2006 
PubMed ID:  

Benjamin Neale, Manuel Ferreira, Sarah Medland and Danielle Posthuma, Statistical Genetics: Gene Mapping Through Linkage and Association. 
Statistical Genetics (ISBN-13: 9780415410403) :608 2007 
PubMed ID:  

J C Schymick, Y Yang, P M Andersen, J P Vonsattel, M Greenway, P Momeni, J Elder, A Chio, G Restagno, W Robberecht, C Dahlberg, O Mukherjee, A Goate, N Graff-Radford, R J Caselli, M Hutton, J Gass, A Cannon, R Rademakers, A B Singleton, O Hardiman, J Rothstein, J Hardy, B J Traynor, Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis–frontotemporal dementia phenotypes. 
British Medical Journal : 2007 
PubMed ID:  17371905

Keller MA, Gwinn K, Nash J, Horsford J, Zhang R, Rich SS, Corriveau RA, Whole genome association studies of neuropsychiatric disease: An emerging era of collaborative genetic discovery. 
Neuropsychatric Disease and Treatment 3(5):613-618 2007 
PubMed ID:  19300590

Rita J. Guerreiro, Jennifer C. Schymick, Cynthia Crews, Andrew Singleton, John Hardy, and Bryan J. Traynor, TDP-43 Is Not a Common Cause of Sporadic Amyotrophic Lateral Sclerosis. 
PLoS ONE 3(6): 2008 
PubMed ID:  18545701

Shaw, Gina, Innovative Collaboration to Create an ALS Bank.. 
Neurology 6(4):5-6 2006 
PubMed ID:  

Sonja W. Scholz, Georgia Xiromerisiou, Hon C. Fung, Johanna Eerola, Olli Hellström, Alexandros Papadimitriou, Georgios M. Hadjigeorgiou, Pentti J. Tienari, Hubert H. Fernandez, Ronald Mandel, Michael S. Okun, Katharina Gwinn-Hardy and Andrew B. Singleton, The human prion gene M129V polymorphism is not associated with idiopathic Parkinson's disease in three distinct populations. 
PubMed ID:  16298483

Z . Khachaturian, A chapter in the development of Alzheimer’s disease research: A case study of public policies on the development and funding of research programs.. 
Alzheimer's and Dementia 3:243-258 2008 
PubMed ID:  19595945  

Williams SR, Yang Q, Chen F, Liu X, Keene KL, Jacques P, Chen WM, Weinstein G, Hsu FC, Beiser A, Wang L, Bookman E, Doheny KF, Wolf PA, Zilka M, Selhub J, Nelson S, Gogarten SM, Worrall BB, Seshadri S, Sale MM, Genomics and Randomized Trials Network MM, Framingham Heart Study MM, Genome-wide meta-analysis of homocysteine and methionine metabolism identifies five one carbon metabolism loci and a novel association of ALDH1L1 with ischemic stroke. 
PLoS genetics 10:e1004214 2014 
PubMed ID: 24651765 

Rayaprolu S, Mullen B, Baker M, Lynch T, Finger E, Seeley WW, Hatanpaa KJ, Lomen-Hoerth C, Kertesz A, Bigio EH, Lippa C, Josephs KA, Knopman DS, White CL 3rd, Caselli R, Mackenzie IR, Miller BL, Boczarska-Jedynak M, Opala G, Krygowska-Wajs A, Barcikowska M, Younkin SG, Petersen RC, Ertekin-Taner N, Uitti RJ, Meschia JF, Boylan KB, Boeve BF, Graff-Radford NR, Wszolek ZK, Dickson DW, Rademakers R, Ross OA, TREM2 in neurodegeneration: evidence for association of the p.R47H variant with frontotemporal dementia and Parkinson's disease. 
Mol Neurodegener 8:19 2013 
PubMed ID: 23800361

Foroud T; FIA Study Investigators, Whole exome sequencing of intracranial aneurysm. 
Stroke 44(6 Suppl 1):S26-8 2013 
PubMed ID: 23709719 

Turner MR, Bowser R, Bruijn L, Dupuis L, Ludolph A, McGrath M, Manfredi G, Maragakis N, Miller RG, Pullman SL, Rutkove SB, Shaw PJ, Shefner J, Fischbeck KH, Mechanisms, models and biomarkers in amyotrophic lateral sclerosis. 
Amyotroph Lateral Scler Frontotemporal Degener 14 Suppl 1:19-32 2013 
PubMed ID: 23678877 

Adib-Samii P, Rost N, Traylor M, Devan W, Biffi A, Lanfranconi S, Fitzpatrick K, Bevan S, Kanakis A, Valant V, Gschwendtner A, Malik R, Richie A, Gamble D, Segal H, Parati EA, Ciusani E, Holliday EG, Maguire J, Wardlaw J, Worrall B, Bis J, Wiggins KL, Longstreth W, Kittner SJ, Cheng YC, Mosley T, Falcone GJ, Furie KL, Leiva-Salinas C, Lau BC, Saleem Khan M; Australian Stroke Genetics Collaborative; Wellcome Trust Case-Control Consortium-2 (WTCCC2); METASTROKE, Sharma P, Fornage M, Mitchell BD, Psaty BM, Sudlow C, Levi C, Boncoraglio GB, Rothwell PM, Meschia J, Dichgans M, Rosand J, Markus HS; International Stroke Genetics Consortium, 17q25 locus is associated with white matter hyperintensity volume in ischemic stroke, but not with lacunar stroke status. 
Stroke 44:1609-15 2013 
PubMed ID: 23674528 

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, Slooter AJ, Szolnoki Z, Sandhu M, Wareham N, Frikke-Schmidt R, Tybjærg-Hansen A, Fillenbaum G, Heijmans BT, Katsuya T, Gromadzka G, Singleton A, Ferrucci L, Hardy J, Worrall B, Rich SS, Matarin M, Whittaker J, Gaunt TR, Whincup P, Morris R, Deanfield J, Donald A, Davey Smith G, Kivimaki M, Kumari M, Smeeth L, Khaw KT, Nalls M, Meschia J, Sun K, Hui R, Day I, Hingorani AD, Casas JP, Apolipoprotein E genotype, cardiovascular biomarkers and risk of stroke: systematic review and metaanalysis of 14,015 stroke cases and pooled analysis of primary biomarker data from up to 60,883 individuals. 
Int J Epidemiol 42:475-92 2013 
PubMed ID: 23569189 

Siitonen A, Majounie E, Federoff M, Ding J, Majamaa K, Singleton AB, Mutations in EIF4G1 are not a common cause of Parkinson's disease. 
Eur J Neurol 20:e59 2013 
PubMed ID: 23490116 

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, Lesage S, Lorenz D, Deuschl G, Durif F, Pollak P, Damier P, Tison F, Durr A, Amouyel P, Lambert JC, Tzourio C, Maubaret C, Charbonnier-Beaupel F, Tahiri K, Vidailhet M, Martinez M, Brice A, Corvol JC, French Parkinson's Disease Genetics Study Group; International Parkinson's Disease Genomics Consortium (IPDGC). The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism. 
J Neurol Neurosurg Psychiatry 84:666-73 2013 
PubMed ID: 23408064 

Harms MB, Neumann D, Benitez BA, Cooper B, Carrell D, Racette BA, Perlmutter JS, Goate A, Cruchaga C, Parkinson disease is not associated with C9ORF72 repeat expansions. 
Neurobiol Aging 34:1519.el-2 2013 
PubMed ID: 23116878 

Konno T, Shiga A, Tsujino A, Sugai A, Kato T, Kanai K, Yokoseki A, Eguchi H, Kuwabara S, Nishizawa M, Takahashi H, Onodera O, Japanese amyotrophic lateral sclerosis patients with GGGGCC hexanucleotide repeat expansion in C9ORF72. 
J Neurol Neurosurg Psychiatry 84:398-401 2013 
PubMed ID: 23012445 

The Hd Ipsc Consortium, Induced Pluripotent Stem Cells from Patients with Huntington's Disease Show CAG-Repeat-Expansion-Associated Phenotypes. 
Cell stem cell 11:264-78 2011 
PubMed ID: 22748968 

Long JD, Matson WR, Juhl AR, Leavitt BR, Paulsen JS, PREDICT-HD Investigators and Coordinators of the Huntington Study Group JS, 8OHdG as a marker for Huntington disease progression. 
Neurobiology of disease 46:625-34 2011 
PubMed ID: 22414782 

Karlsson R, Graae L, Lekman M, Wang D, Favis R, Axelsson T, Galter D, Belin AC, Paddock S, MAGI1 copy number variation in bipolar affective disorder and schizophrenia. 
Biological psychiatry 71:922-30 2011 
PubMed ID: 22381734 

Cheng YC, Anderson CD, Bione S, Keene K, Maguire JM, Nalls M, Rasheed A, Zeginigg M, Attia J, Baker R, Barlera S, Biffi A, Bookman E, Brott TG, Brown RD, Chen F, Chen WM, Ciusani E, Cole JW, Cortellini L, Danesh J, Doheny K, Ferrucci L, Grazia Franzosi M, Frossard P, Furie KL, Golledge J, Hankey GJ, Hernandez D, Holliday EG, Hsu FC, Jannes J, Kamal A, Khan MS, Kittner SJ, Koblar SA, Lewis M, Lincz L, Lisa A, Matarin M, Moscato P, Mychaleckyj JC, Parati EA, Parolo S, Pugh E, Rost NS, Schallert M, Schmidt H, Scott RJ, Sturm JW, Yadav S, Zaidi M, Boncoraglio GB, Levi CR, Meschia JF, Rosand J, Sale M, Saleheen D, Schmidt R, Sharma P, Worrall B, Mitchell BD, GARNET Collaborative Research Group BD, GENEVA Consortium BD, International Stroke Genetics Consortium BD, Are myocardial infarction--associated single-nucleotide polymorphisms associated with ischemic stroke?. 
Stroke; a journal of cerebral circulation 43:980-6 2012 
PubMed ID: 22363065 

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(2):389-92 2012 
PubMed ID: 22349451 

International Stroke Genetics Consortium (ISGC) , Wellcome Trust Case Control Consortium 2 (WTCCC2) , Bellenguez C, Bevan S, Gschwendtner A, Spencer CC, Burgess AI, Pirinen M, Jackson CA, Traylor M, Strange A, Su Z, Band G, Syme PD, Malik R, Pera J, Norrving B, Lemmens R, Freeman C, Schanz R, James T, Poole D, Murphy L, Segal H, Cortellini L, Cheng YC, Woo D, Nalls MA, Müller-Myhsok B, Meisinger C, Seedorf U, Ross-Adams H, Boonen S, Wloch-Kopec D, Valant V, Slark J, Furie K, Delavaran H, Langford C, Deloukas P, Edkins S, Hunt S, Gray E, Dronov S, Peltonen L, Gretarsdottir S, Thorleifsson G, Thorsteinsdottir U, Stefansson K, Boncoraglio GB, Parati EA, Attia J, Holliday E, Levi C, Franzosi MG, Goel A, Helgadottir A, Blackwell JM, Bramon E, Brown MA, Casas JP, Corvin A, Duncanson A, Jankowski J, Mathew CG, Palmer CN, Plomin R, Rautanen A, Sawcer SJ, Trembath RC, Viswanathan AC, Wood NW, Worrall BB, Kittner SJ, Mitchell BD, Kissela B, Meschia JF, Thijs V, Lindgren A, Macleod MJ, Slowik A, Walters M, Rosand J, Sharma P, Farrall M, Sudlow CL, Rothwell PM, Dichgans M, Donnelly P, Markus HS, Genome-wide association study identifies a variant in HDAC9 associated with large vessel ischemic stroke. 
Nature genetics 44:328-33 2011 
PubMed ID: 22306652 

Sebastiani P, Solovieff N, Dewan AT, Walsh KM, Puca A, Hartley SW, Melista E, Andersen S, Dworkis DA, Wilk JB, Myers RH, Steinberg MH, Montano M, Baldwin CT, Hoh J, Perls TT, Genetic signatures of exceptional longevity in humans. 
PloS one 7:e29848 2011 
PubMed ID: 22279548 

Girirajan S, Brkanac Z, Coe BP, Baker C, Vives L, Vu TH, Shafer N, Bernier R, Ferrero GB, Silengo M, Warren ST, Moreno CS, Fichera M, Romano C, Raskind WH, Eichler EE, Relative burden of large CNVs on a range of neurodevelopmental phenotypes. 
PLoS genetics 7:e1002334 2011 
PubMed ID: 22102821 

Clark J, Reddy S, Zheng K, Betensky RA, Simon DK, Association of PGC-1alpha polymorphisms with age of onset and risk of Parkinson's disease. 
BMC medical genetics 12:69 2010 
PubMed ID: 21595954 

Dranchak PK, Di Pietro E, Snowden A, Oesch N, Braverman NE, Steinberg SJ, Hacia JG, Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations. 
Journal of cellular biochemistry 112:1250-8 2011 
PubMed ID: 21465523 

Jorge BS, Campbell CM, Miller AR, Rutter ED, Gurnett CA, Vanoye CG, George AL, Kearney JA, Voltage-gated potassium channel KCNV2 (Kv82) contributes to epilepsy susceptibility. 
Proceedings of the National Academy of Sciences of the United States of America : 2011 
PubMed ID: 21402906 

McLaughlin HM, Sakaguchi R, Liu C, Igarashi T, Pehlivan D, Chu K, Iyer R, Cruz P, Cherukuri PF, Hansen NF, Mullikin JC; NISC Comparative Sequencing Program, Biesecker LG, Wilson TE, Ionasescu V, Nicholson G, Searby C, Talbot K, Vance JM, Züchner S, Szigeti K, Lupski JR, Hou YM, Green ED, Antonellis A, Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy. 
American Journal of Human Genetics 87(4):560-6 2010 
PubMed ID: 20920668 

Liu Y, Ng M , Shrunken methodology to genome-wide SNPs selection and construction of SNPs networks. 
BMC Systems Biology 4 Suppl 2:S5 2010 
PubMed ID: 20840732 

Zhang Z, Niu A, Sha Q, Identification of interacting genes in genome-wide association studies using a model-based two-stage approach. 
Annals of Human Genetics 74(5):406-15 2010 
PubMed ID: 20636464 

Cooper O, Hargus G, Deleidi M, Blak A, Osborn T, Marlow E, Lee K, Levy A, Perez-Torres E, Yow A, Isacson O., Differentiation of human ES and Parkinson's disease iPS cells into ventral midbrain dopaminergic neurons requires a high activity form of SHH, FGF8a and specific regionalization by retinoic acid. 
Molecular and Cellular Neurosciences 45(3):258-66 2010 
PubMed ID: 20603216 

Mefford HC, Muhle H, Ostertag P, von Spiczak S, Buysse K, Baker C, Franke A, Malafosse A, Genton P, Thomas P, Gurnett CA, Schreiber S, Bassuk AG, Guipponi M, Stephani U, Helbig I, Eichler EE, Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies . 
PLoS Genetics 6(5):e1000962 2010 
PubMed ID: 20502679 

Ercan-Sencicek AG, Stillman AA, Ghosh AK, Bilguvar K, O'Roak BJ, Mason CE, Abbott T, Gupta A, King RA, Pauls DL, Tischfield JA, Heiman GA, Singer HS, Gilbert DL, Hoekstra PJ, Morgan TM, Loring E, Yasuno K, Fernandez T, Sanders S, Louvi A, Cho JH, Mane S, Colangelo CM, Biederer T, Lifton RP, Gunel M, State MW, L-histidine decarboxylase and Tourette's syndrome. 
The New England Journal of Medicine 362(20):1901-8 2010 
PubMed ID: 20445167 

Simon DK, Pankratz N, Kissell DK, Pauciulo MW, Halter CA, Rudolph A, Pfeiffer RF, Nichols WC, Foroud T; Parkinson Study Group-PROGENI Investigators, Maternal inheritance and mitochondrial DNA variants in familial Parkinson’s disease. 
BMC Medical Genetics 11:53 2010 
PubMed ID: 20356410 

Ebentheuer J, Canelo M, Trautmann E, Trenkwalder C, Substantia nigra echogenicity in progressive supranuclear palsy. 
Movement disorders : official journal of the Movement Disorder Society 25:765-8 2010 
PubMed ID: 20198715 

Van Deerlin VM, Sleiman PM, Martinez-Lage M, Chen-Plotkin A, Wang LS, Graff-Radford NR, Dickson DW, Rademakers R, Boeve BF, Grossman M, Arnold SE, Mann DM, Pickering-Brown SM, Seelaar H, Heutink P, van Swieten JC, Murrell JR, Ghetti B, Spina S, Grafman J, Hodges J, Spillantini MG, Gilman S, Lieberman AP, Kaye JA, Woltjer RL, Bigio EH, Mesulam M, Al-Sarraj S, Troakes C, Rosenberg RN, White CL 3rd, Ferrer I, Lladó A, Neumann M, Kretzschmar HA, Hulette CM, Welsh-Bohmer KA, Miller BL, Alzualde A, de Munain AL, McKee AC, Gearing M, Levey AI, Lah JJ, Hardy J, Rohrer JD, Lashley T, Mackenzie IR, Feldman HH, Hamilton RL, Dekosky ST, van der Zee J, Kumar-Singh S, Van Broeckhoven C, Mayeux R, Vonsattel JP, Troncoso JC, Kril JJ, Kwok JB, Halliday GM, Bird TD, Ince PG, Shaw PJ, Cairns NJ, Morris JC, McLean CA, Decarli C, Ellis WG, Freeman SH, Frosch MP, Growdon JH, Perl DP, Sano M, Bennett DA, Schneider JA, Beach TG, Reiman EM, Woodruff BK, Cummings J, Vinters HV, Miller CA, Chui HC, Alafuzoff I, Hartikainen P, Seilhean D, Galasko D, Masliah E, Cotman CW, Tuñón MT, Martínez MC, Munoz DG, Carroll SL, Marson D, Riederer PF, Bogdanovic N, Schellenberg GD, Hakonarson H, Trojanowski JQ, Lee VM., Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. . 
Nature Genetics 42(3):234-9 2010 
PubMed ID: 20154673 

Greene CS, Sinnott-Armstrong NA, Himmelstein DS, Park PJ, Moore JH, Harris BT, Multifactor Dimensionality Reduction for Graphics Processing Units Enables Genome-wide Testing of Epistasis in Sporadic ALS. 
Bioinformatics 26(5):694-5 2010 
PubMed ID: 20081222 

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(3):548.e5-7 2011 
PubMed ID: 20034704 

Marcella A. Wozniak, MD, PhD; Steven J. Kittner, MD, MPH; Stanley Tuhrim, MD; John W. Cole, MD, MS; Barney Stern, MD; Mark Dobbins; Marie E. Grace, PhD; Irina Nazarenko, MS; Robert Dobrovolny, PhD; Eric McDade, DO; Robert J. Desnick, PhD, MD, Frequency of unrecognized Fabry disease among young European-American and African-American men with first ischemic stroke.. 
Stroke 41(1):78-81 2010 
PubMed ID: 20007919 

Liu Y, Li M, Cheung YM, Sham PC, Ng MK, SKM-SNP: SNP markers detection method. 
Journal of Biomedical Informatics 43(2):233-9 2010 
PubMed ID: 19925882 

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, Bonin M, Nalls MA, Illig T, Gieger C, Houlden H, Steffens M, Okun MS, Racette BA, Cookson MR, Foote KD, Fernandez HH, Traynor BJ, Schreiber S, Arepalli S, Zonozi R, Gwinn K, van der Brug M, Lopez G, Chanock SJ, Schatzkin A, Park Y, Hollenbeck A, Gao J, Huang X, Wood NW, Lorenz D, Deuschl G, Chen H, Riess O, Hardy JA, Singleton AB, Gasser T, Genome-wide association study reveals genetic risk underlying Parkinson's disease. 
Nature genetics 41(12):1308-12 2009 
PubMed ID: 19915575 

Latourelle JC, Pankratz N, Dumitriu A, Wilk JB, Goldwurm S, Pezzoli G, Mariani CB, Destefano AL, Halter C, Gusella JF, Nichols WC, Myers RH, Foroud T, Coordinators PP, Laboratory PP, Coordinators GI, Laboratories GM., Genomewide association study for onset age in Parkinson disease. 
BMC Medical Genetics 10:98 2009 
PubMed ID: 19772629 

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, Powell J, Proitsi P, Lupton MK, Brayne C, Rubinsztein DC, Gill M, Lawlor B, Lynch A, Morgan K, Brown KS, Passmore PA, Craig D, McGuinness B, Todd S, Holmes C, Mann D, Smith AD, Love S, Kehoe PG, Hardy J, Mead S, Fox N, Rossor M, Collinge J, Maier W, Jessen F, Schürmann B, van den Bussche H, Heuser I, Kornhuber J, Wiltfang J, Dichgans M, Frölich L, Hampel H, Hüll M, Rujescu D, Goate AM, Kauwe JS, Cruchaga C, Nowotny P, Morris JC, Mayo K, Sleegers K, Bettens K, Engelborghs S, De Deyn PP, Van Broeckhoven C, Livingston G, Bass NJ, Gurling H, McQuillin A, Gwilliam R, Deloukas P, Al-Chalabi A, Shaw CE, Tsolaki M, Singleton AB, Guerreiro R, Mühleisen TW, Nöthen MM, Moebus S, Jöckel KH, Klopp N, Wichmann HE, Carrasquillo MM, Pankratz VS, Younkin SG, Holmans PA, O'Donovan M, Owen MJ, Williams J, Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. 
Nature genetics 41:1088-93 2009 
PubMed ID: 19734902 

van Es MA, Veldink JH, Saris CG, Blauw HM, van Vught PW, Birve A, Lemmens R, Schelhaas HJ, Groen EJ, Huisman MH, van der Kooi AJ, de Visser M, Dahlberg C, Estrada K, Rivadeneira F, Hofman A, Zwarts MJ, van Doormaal PT, Rujescu D, Strengman E, Giegling I, Muglia P, Tomik B, Slowik A, Uitterlinden AG, Hendrich C, Waibel S, Meyer T, Ludolph AC, Glass JD, Purcell S, Cichon S, Nöthen MM, Wichmann HE, Schreiber S, Vermeulen SH, Kiemeney LA, Wokke JH, Cronin S, McLaughlin RL, Hardiman O, Fumoto K, Pasterkamp RJ, Meininger V, Melki J, Leigh PN, Shaw CE, Landers JE, Al-Chalabi A, Brown RH, Robberecht W, Andersen PM, Ophoff RA, van den Berg LH, Genome-wide association study identifies 19p133 (UNC13A) and 9p212 as susceptibility loci for sporadic amyotrophic lateral sclerosis. 
Nature genetics 41:1083-7 2009 
PubMed ID: 19734901 

Ravina B, Tanner C, Dieuliis D, Eberly S, Flagg E, Galpern WR, Fahn S, Goetz CG, Grate S, Kurlan R, Lang AE, Marek K, Kieburtz K, Oakes D, Elliott R, Shoulson I, The Parkinson Study Group LABS-PD Investigators I, A longitudinal program for biomarker development in Parkinson's disease: A feasibility study. 
Movement disorders : official journal of the Movement Disorder Society 24(14):2081-90 2009 
PubMed ID: 19691116 

Pankratz N, Kissell DK, Pauciulo MW, Halter CA, Rudolph A, Pfeiffer RF, Marder KS, Foroud T, Nichols WC, Parkinson Study Group-PROGENI Investigators WC, Parkin dosage mutations have greater pathogenicity in familial PD than simple sequence mutations. 
Neurology 73:279-86 2009 
PubMed ID: 19636047 

Vilariño-Güell C, Wider C, Soto-Ortolaza AI, Cobb SA, Kachergus JM, Keeling BH, Dachsel JC, Hulihan MM, Dickson DW, Wszolek ZK, Uitti RJ, Graff-Radford NR, Boeve BF, Josephs KA, Miller B, Boylan KB, Gwinn K, Adler CH, Aasly JO, Hentati F, Destée A, Krygowska-Wajs A, Chartier-Harlin MC, Ross OA, Rademakers R, Farrer MJ, Characterization of DCTN1 genetic variability in neurodegeneration. 
Neurology 72:2024-8 2009 
PubMed ID: 19506225 

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 2009 
PubMed ID: 19489756 

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 2008 
PubMed ID: 19282984 

Nichols WC, Kissell DK, Pankratz N, Pauciulo MW, Elsaesser VE, Clark KA, Halter CA, Rudolph A, Wojcieszek J, Pfeiffer RF, Foroud T, Parkinson Study Group-PROGENI Investigators T, Variation in GIGYF2 is not associated with Parkinson disease. 
Neurology 72:1886-92 2009 
PubMed ID: 19279319 

Tzeng JY, Zhang D, Chang SM, Thomas DC, Davidian M, Gene-Trait Similarity Regression for Multimarker-Based Association Analysis. 
Biometrics 65:822-32 2009 
PubMed ID: 19210740 

Itsara A, Cooper GM, Baker C, Girirajan S, Li J, Absher D, Krauss RM, Myers RM, Ridker PM, Chasman DI, Mefford H, Ying P, Nickerson DA, Eichler EE, Population analysis of large copy number variants and hotspots of human genetic disease. 
American journal of human genetics 84:148-61 2008 
PubMed ID: 19166990 

Helbig I, Mefford HC, Sharp AJ, Guipponi M, Fichera M, Franke A, Muhle H, de Kovel C, Baker C, von Spiczak S, Kron KL, Steinich I, Kleefuss-Lie AA, Leu C, Gaus V, Schmitz B, Klein KM, Reif PS, Rosenow F, Weber Y, Lerche H, Zimprich F, Urak L, Fuchs K, Feucht M, Genton P, Thomas P, Visscher F, de Haan GJ, Møller RS, Hjalgrim H, Luciano D, Wittig M, Nothnagel M, Elger CE, Nürnberg P, Romano C, Malafosse A, Koeleman BP, Lindhout D, Stephani U, Schreiber S, Eichler EE, Sander T, 15q133 microdeletions increase risk of idiopathic generalized epilepsy. 
Nature genetics 41:160-2 2008 
PubMed ID: 19136953 

Ramoni RB, Himes BE, Sale MM, Furie KL, Ramoni MF, Predictive genomics of cardioembolic stroke. 
Stroke; a journal of cerebral circulation 40:S67-70 2008 
PubMed ID: 19064790 

Cronin S, Tomik B, Bradley DG, Slowik A, Hardiman O, Screening for replication of genome-wide SNP associations in sporadic ALS. 
European journal of human genetics : EJHG 17:213-8 2008 
PubMed ID: 18987618 

Pankratz N, Wilk JB, Latourelle JC, DeStefano AL, Halter C, Pugh EW, Doheny KF, Gusella JF, Nichols WC, Foroud T, Myers RH, PSG-PROGENI and GenePD Investigators, Coordinators and Molecular Genetic Laboratories RH, Genomewide association study for susceptibility genes contributing to familial Parkinson disease. 
Human genetics 124:593-605 2008 
PubMed ID: 18985386 

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 11q122-11q123 is associated with spinocerebellar ataxia type 20. 
Human molecular genetics 17:3847-53 2008 
PubMed ID: 18801880 

Sale H, Wang J, O'Hara TJ, Tester DJ, Phartiyal P, He JQ, Rudy Y, Ackerman MJ, Robertson GA, Physiological properties of hERG 1a/1b heteromeric currents and a hERG 1b-specific mutation associated with Long-QT syndrome. 
Circulation research 103:e81-95 2008 
PubMed ID: 18776039 

Li Y, Rowland C, Xiromerisiou G, Lagier RJ, Schrodi SJ, Dradiotis E, Ross D, Bui N, Catanese J, Aggelakis K, Grupe A, Hadjigeorgiou G, Neither replication nor simulation supports a role for the axon guidance pathway in the genetics of Parkinson's disease. 
PloS one 3:e2707 2008 
PubMed ID: 18628988 

Matarin M, Brown WM, Singleton A, Hardy JA, Meschia JF, ISGS investigators 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 2008 
PubMed ID: 18340101 

Landers JE, Leclerc AL, Shi L, Virkud A, Cho T, Maxwell MM, Henry AF, Polak M, Glass JD, Kwiatkowski TJ, Al-Chalabi A, Shaw CE, Leigh PN, Rodriguez-Leyza I, McKenna-Yasek D, Sapp PC, Brown RH, New VAPB deletion variant and exclusion of VAPB mutations in familial ALS. 
Neurology 70:1179-85 2008 
PubMed ID: 18322265 

Li Y, Grupe A, Rowland C, Holmans P, Segurado R, Abraham R, Jones L, Catanese J, Ross D, Mayo K, Martinez M, Hollingworth P, Goate A, Cairns NJ, Racette BA, Perlmutter JS, O'Donovan MC, Morris JC, Brayne C, Rubinsztein DC, Lovestone S, Thal LJ, Owen MJ, Williams J, Evidence that common variation in NEDD9 is associated with susceptibility to late-onset Alzheimer's and Parkinson's disease. 
Human molecular genetics 17:759-67 2007 
PubMed ID: 18063669 

Wendland JR, Moya PR, Kruse MR, Ren-Patterson RF, Jensen CL, Timpano KR, Murphy DL, A novel, putative gain-of-function haplotype at SLC6A4 associates with obsessive-compulsive disorder. 
Human molecular genetics 17:717-23 2007 
PubMed ID: 18055562 

Evangelou E, Maraganore DM, Ioannidis JP, Meta-analysis in genome-wide association datasets: strategies and application in Parkinson disease. 
PLoS ONE 2:e196 2006 
PubMed ID: 17332845 

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, Hutton ML, Rogaeva E, St George-Hyslop P, Rothstein JD, Hardiman O, Grafman J, Singleton A, Hardy J, Traynor BJ, Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD. 
BMC neurology 6:44 2006 
PubMed ID: 17166276 

Li Y, Schrodi S, Rowland C, Tacey K, Catanese J, Grupe A, Genetic evidence for ubiquitin-specific proteases USP24 and USP40 as candidate genes for late-onset Parkinson disease. 
Human mutation 27:1017-23 2006 
PubMed ID: 16917932 

Toft M, Aasly J, Bisceglio G, Adler CH, Uitti RJ, Krygowska-Wajs A, Lynch T, Wszolek ZK, Farrer MJ, Parkinsonism, FXTAS, and FMR1 premutations. 
Movement disorders : official journal of the Movement Disorder Society 20:230-3 2005 
PubMed ID: 15390127 

Curtis D, Allelic association studies of genome wide association data can reveal errors in marker position assignments. 
BMC Genet 8:30 2007 
PubMed ID: 177559648 

Kasperaviciute D, Catarino CB, Matarin M, Leu C, Novy J, Tostevin A, Leal B, Hessel EV, Hallmann K, Hildebrand MS, Dahl HH, Ryten M, Trabzuni D, Ramasamy A, Alhusaini S, Doherty CP, Dorn T, Hansen J, Krämer G, Steinhoff BJ, Zumsteg D, Duncan S, Kälviäinen RK, Eriksson KJ, Kantanen AM, Pandolfo M, Gruber-Sedlmayr U, Schlachter K, Reinthaler EM, Stogmann E, Zimprich F, Théâtre E, Smith C, O'Brien TJ, Meng Tan K, Petrovski S, Robbiano A, Paravidino R, Zara F, Striano P, Sperling MR, Buono RJ, Hakonarson H, Chaves J, Costa PP, Silva BM, da Silva AM, de Graan PN, Koeleman BP, Becker A, Schoch S, von Lehe M, Reif PS, Rosenow F, Becker F, Weber Y, Lerche H, Rössler K, Buchfelder M, Hamer HM, Kobow K, Coras R, Blumcke I, Scheffer IE, Berkovic SF, Weale ME; UK Brain Expression Consortium, Delanty N, Depondt C, Cavalleri GL, Kunz WS, Sisodiya SM., Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.. 
Brain 136 (Pt 10):3140-50 2013 
PubMed ID: 24014518 

Ruiz-Marín M, Matilla-García M, Cordoba JA, Susillo-González JL, Romo-Astorga A, González-Pérez A, Ruiz A, Gayán J, An Entropy Test for Single-locus Genetic Association Analysis . 
BMC Genetics :11:19 2010 
PubMed ID: 20331859 

Sha Q, Zhang Z, Schymick C, Traynor J, Zhang S, Genome-wide association reveals three SNPs associated with sporadic amyotrophic lateral sclerosis through a two-locus analysis. 
BMC medical genetics 10:86 2008 
PubMed ID: 19740415 

Duffy DL, Zhao ZZ, Sturm RA, Hayward NK, Martin NG, Montgomery GW, Multiple Pigmentation Gene Polymorphisms Account for a Substantial Proportion of Risk of Cutaneous Malignant Melanoma. 
The Journal of investigative dermatology : 2009 
PubMed ID: 19710684 

Jensen ST, Soi S, Wang LS, A Bayesian approach to efficient differential allocation for resampling-based significance testing. 
BMC bioinformatics 10:198 2008 
PubMed ID: 19558706 

Landers JE, Melki J, Meininger V, Glass JD, van den Berg LH, van Es MA, Sapp PC, van Vught PW, McKenna-Yasek DM, Blauw HM, Cho TJ, Polak M, Shi L, Wills AM, Broom WJ, Ticozzi N, Silani V, Ozoguz A, Rodriguez-Leyva I, Veldink JH, Ivinson AJ, Saris CG, Hosler BA, Barnes-Nessa A, Couture N, Wokke JH, Kwiatkowski TJ, Ophoff RA, Cronin S, Hardiman O, Diekstra FP, Leigh PN, Shaw CE, Simpson CL, Hansen VK, Powell JF, Corcia P, Salachas F, Heath S, Galan P, Georges F, Horvitz HR, Lathrop M, Purcell S, Al-Chalabi A, Brown RH, Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis. 
Proceedings of the National Academy of Sciences of the United States of America 106:9004-9 2009 
PubMed ID: 19451621 

Tang W, Wu X, Jiang R, Li Y, Epistatic module detection for case-control studies: a Bayesian model with a Gibbs sampling strategy. 
PLoS genetics 5:e1000464 2008 
PubMed ID: 19412524 

Wills AM, Cronin S, Slowik A, Kasperaviciute D, Van Es MA, Morahan JM, Valdmanis PN, Meininger V, Melki J, Shaw CE, Rouleau GA, Fisher EM, Shaw PJ, Morrison KE, Pamphlett R, Van den Berg LH, Figlewicz DA, Andersen PM, Al-Chalabi A, Hardiman O, Purcell S, Landers JE, Brown RH, A large-scale international meta-analysis of paraoxonase gene polymorphisms in sporadic ALS. 
Neurology 73:16-24 2009 
PubMed ID: 19321847 

Long Q, Zhang Q, Ott J, Detecting disease-associated genotype patterns. 
BMC bioinformatics 10 Suppl 1:S75 2009 
PubMed ID: 19208180 

González-Pérez A, Gayán J, Marín J, Galán JJ, Sáez ME, Real LM, Antúnez C, Ruiz A, Whole-genome conditional two-locus analysis identifies novel candidate genes for late-onset Parkinson's disease. 
Neurogenetics 10:173-81 2008 
PubMed ID: 19156451 

Paschou P, Drineas P, Lewis J, Nievergelt CM, Nickerson DA, Smith JD, Ridker PM, Chasman DI, Krauss RM, Ziv E, Tracing sub-structure in the European American population with PCA-informative markers. 
PLoS genetics 4:e1000114 2008 
PubMed ID: 18797516 

Mefford HC, Sharp AJ, Baker C, Itsara A, Jiang Z, Buysse K, Huang S, Maloney VK, Crolla JA, Baralle D, Collins A, Mercer C, Norga K, de Ravel T, Devriendt K, Bongers EM, de Leeuw N, Reardon W, Gimelli S, Bena F, Hennekam RC, Male A, Gaunt L, Clayton-Smith J, Simonic I, Park SM, Mehta SG, Nik-Zainal S, Woods CG, Firth HV, Parkin G, Fichera M, Reitano S, Lo Giudice M, Li KE, Casuga I, Broomer A, Conrad B, Schwerzmann M, Räber L, Gallati S, Striano P, Coppola A, Tolmie JL, Tobias ES, Lilley C, Armengol L, Spysschaert Y, Verloo P, De Coene A, Goossens L, Mortier G, Speleman F, van Binsbergen E, Nelen MR, Hochstenbach R, Poot M, Gallagher L, Gill M, McClellan J, King MC, Regan R, Skinner C, Stevenson RE, Antonarakis SE, Chen C, Estivill X, Menten B, Gimelli G, Gribble S, Schwartz S, Sutcliffe JS, Walsh T, Knight SJ, Sebat J, Romano C, Schwartz CE, Veltman JA, de Vries BB, Vermeesch JR, Barber JC, Willatt L, Tassabehji M, Eichler EE, Recurrent rearrangements of chromosome 1q211 and variable pediatric phenotypes. 
The New England journal of medicine 359:1685-99 2008 
PubMed ID: 18784092 

Gayán J, González-Pérez A, Bermudo F, Sáez ME, Royo JL, Quintas A, Galan JJ, Morón FJ, Ramirez-Lorca R, Real LM, Ruiz A, A method for detecting epistasis in genome-wide studies using case-control multi-locus association analysis. 
BMC genomics 9:360 2008 
PubMed ID: 18667089 

Zhang Q, Wang S, Ott J, Combining identity by descent and association in genetic case-control studies. 
BMC genetics 9:42 2007 
PubMed ID: 18601744 

Khatkar MS, Nicholas FW, Collins AR, Zenger KR, Cavanagh JA, Barris W, Schnabel RD, Taylor JF, Raadsma HW, Extent of genome-wide linkage disequilibrium in Australian Holstein-Friesian cattle based on a high-density SNP panel. 
BMC genomics 9:187 2008 
PubMed ID: 18435834 

Macgregor S, Zhao ZZ, Henders A, Nicholas MG, Montgomery GW, Visscher PM, Highly cost-efficient genome-wide association studies using DNA pools and dense SNP arrays. 
Nucleic acids research 36:e35 2008 
PubMed ID: 18276640 

Price AL, Butler J, Patterson N, Capelli C, Pascali VL, Scarnicci F, Ruiz-Linares A, Groop L, Saetta AA, Korkolopoulou P, Seligsohn U, Waliszewska A, Schirmer C, Ardlie K, Ramos A, Nemesh J, Arbeitman L, Goldstein DB, Reich D, Hirschhorn JN, Discerning the ancestry of European Americans in genetic association studies. 
PLoS genetics 4:e236 2007 
PubMed ID: 18208327 

Lesnick TG, Sorenson EJ, Ahlskog JE, Henley JR, Shehadeh L, Papapetropoulos S, Maraganore DM, Beyond Parkinson disease: amyotrophic lateral sclerosis and the axon guidance pathway. 
PLoS ONE 3:e1449 2007 
PubMed ID: 18197259 

van Es MA, van Vught PW, Blauw HM, Franke L, Saris CG, Van den Bosch L, de Jong SW, de Jong V, Baas F, van't Slot R, Lemmens R, Schelhaas HJ, Birve A, Sleegers K, Van Broeckhoven C, Schymick JC, Traynor BJ, Wokke JH, Wijmenga C, Robberecht W, Andersen PM, Veldink JH, Ophoff RA, van den Berg LH, Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis. 
Nature genetics 40:29-31 2007 
PubMed ID: 18084291 

Cronin S, Berger S, Ding J, Schymick JC, Washecka N, Hernandez DG, Greenway MJ, Bradley DG, Traynor BJ, Hardiman O, A genome-wide association study of sporadic ALS in a homogenous Irish population. 
Human molecular genetics 17:768-74 2007 
PubMed ID: 18057069 

Tzeng JY, Zhang D, Haplotype-based association analysis via variance-components score test. 
American journal of human genetics 81:927-38 2007 
PubMed ID: 17924336 

Rhee H, Lee JS, PADB: published association database. 
BMC bioinformatics 8:348 2007 
PubMed ID: 17877839 

Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, Maller J, Sklar P, de Bakker PI, Daly MJ, Sham PC, PLINK: a tool set for whole-genome association and population-based linkage analyses. 
American journal of human genetics 81:559-75 2007 
PubMed ID: 17701901 

Lesnick TG, Papapetropoulos S, Mash DC, Ffrench-Mullen J, Shehadeh L, de Andrade M, Henley JR, Rocca WA, Ahlskog JE, Maraganore DM, A Genomic Pathway Approach to a Complex Disease: Axon Guidance and Parkinson Disease. 
PLoS Genet 3:e98 2006 
PubMed ID: 17571925 

Tian C, Hinds DA, Shigeta R, Adler SG, Lee A, Pahl MV, Silva G, Belmont JW, Hanson RL, Knowler WC, Gregersen PK, Ballinger DG, Seldin MF, A genomewide single-nucleotide-polymorphism panel for Mexican American admixture mapping. 
American journal of human genetics 80:1014-23 2007 
PubMed ID: 17557415 

Atz ME, Rollins B, Vawter MP, NCAM1 association study of bipolar disorder and schizophrenia: polymorphisms and alternatively spliced isoforms lead to similarities and differences. 
Psychiatric genetics 17:55-67 2007 
PubMed ID: 17413444 

Keen-Kim D, Mathews CA, Reus VI, Lowe TL, Herrera LD, Budman CL, Gross-Tsur V, Pulver AE, Bruun RD, Erenberg G, Naarden A, Sabatti C, Freimer NB, Overrepresentation of rare variants in a specific ethnic group may confuse interpretation of association analyses. 
Human molecular genetics 15:3324-8 2006 
PubMed ID: 17035247