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Publications

Brás Laboratory

Publications

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Moore KM…Guerreiro R, Brás J, Rohrer JD. 2019. Age at symptom onset and death and disease duration in genetic frontotemporal dementia: An international retrospective cohort study. Lancet Neurol.

Nalls MA…Brás J…Singleton AB, System Genomics of Parkinson’s Disease Consortium and International Parkinson’s Disease Genomics Consortium 2019. Identification of novel risk loci, causal insights, and heritable risk for Parkinson’s disease: a meta-analysis of genome-wide association studies. Lancet Neuro.

Habib AM, Okorokov AL, Hill MN, Brás JT, Lee MC, Li S, Gossage SJ, van Drimmelen M, Morena M, Houlden H, Ramirez JD, Bennett DLH, Srivastava D, Cox JJ. 2019. Microdeletion in a FAAH pseudogene identified in a patient with high anandamide concentrations and pain insensitivity. British J Anaesthesia.

Guven G, Bilgic B, Tufekcioglu Z, Erginel Unaltuna N, Hanagasi H, Gurvit H, Singleton A, Hardy J, Emre M, Gulec C, Brás JM, Guerreiro RJ, Lohmann E. 2018. 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. J Alz Dis 1–9.

Carmona S, Marecos C, Amorim M, Ferreira AC, Conceição C, Brás JM, Duarte ST, Guerreiro RJ. 2018. AP4S1 splice-site mutation in a case of spastic paraplegia type 52 with polymicrogyria. Neurol Genet 4(5):e273.

Guerreiro RJ, Orme T, Naj AC, Kuzma AB, Schellenberg GD, Brás JM. 2018. Is APOE ε4 required for Alzheimer’s disease to develop in TREM2 p.R47H variant carriers? Neuropathol Appl Neurobiol.

Carmona S, Zahs K, Wu E, Dankin K, Brás JM, Guerreiro RJ. 2018. The role of TREM2 in Alzheimer’s disease and other neurodegenerative disorders. Lancet Neurol 17(8):721–730.

Blauwendraat C, Brás JM, Nalls MA, Lewis PA, Hernandez DG, Singleton AB; International Parkinson’s Disease Genomics Consortium. 2018. Coding variation in GBA explains the majority of the SYT11-GBA Parkinson’s disease GWAS locus. Mov Disord 33(11):1821–1823.

Kun-Rodrigues C … Guerreiro RJ, Brás JM. 2018. A comprehensive screening of copy number variation in dementia with Lewy bodies. Neurobiol Aging.

Orme T, Guerreiro RJ, Brás JM. 2018. The genetics of dementia with Lewy bodies: Current understanding and future directions.  Curr Neurol Neurosci Rep. 18(10):67.

Blauwendraat C, Reed X, Kia DA, Gan-Or Z, Lesage S, Pihlstrøm L, Guerreiro RJ, Gibbs JR, Sabir M, Ahmed S, Ding J, Alcalay RN, Hassin-Baer S, Pittman AM, Brooks J, Edsall C, Hernandez DG, Chung SJ, Goldwurm S, Toft M, Schulte C, Brás JM, Wood NW, Brice A, Morris HR, Scholz SW, Nalls MA, Singleton AB, Cookson MR. 2018. Frequency loss of function variants in LRRK2 in Parkinson disease. JAMA Neurol  75(11):1416–1422.

Patel T, Brookes KJ, Turton J, Chaudhury S, Guetta-Baranes T, Guerreiro RJ, Brás JM, Hernandez, Singleton A, Francis PT, Hardy J, Morgan K. 2018. Whole-exome sequencing of the BDR cohort: Evidence to support the role of the PILRA gene in Alzheimer’s disease.  Neuropathol Appl Neurobiol 44(5):506–521.

Hartl D, May P, Gu W, Mayhaus M, Pichler S, Spaniol C, Glaab E, Bobbili DR, Antony P, Koegelsberger S, Kurz A, Grimmer T, Morgan K, Vardarajan BN, Reitz C, Hardy J, Brás JM, Guerreiro RJ, Balling R, Schneider JG, Riemenschneider M. 2018. A rare loss-of-function variant of ADAM17 is associated with late-onset familial Alzheimer disease. Mol Psych.

Khan RR …  Guerreiro RJ, Brás JM … Michael D Greicius. 2018. Stop-gain variant in microglia-expressed gene GMIP is associated with early onset Alzheimer’s disease. Alzheimers Dementia 14(7):1534–1536.

Chaudhury SR, Patel T, Fallows A, Brookes KJ, Guetta-Baranes T, Turton J, Sussams R, Guerreiro RJ, Brás JM, Hardy J, Francis PT, Holmes C, Morgan K. 2018. Alzheimer’s disease polygenic risk score as a predictor of conversion from mild cognitive impairment. Alzheimers Dementia 14(7):1094.

Brainstorm Consortium…Brás JM..Guerreiro RJ…Murray R. 2018. Analysis of shared heritability in common disorders of the brain. Science 360(6395).

Brookes KJ, McConnell G, Williams K, Chaudhury S, Madhan G, Patel T, Turley C, Guetta-Baranes T, Brás JM, Guerreiro RJ, Hardy J, Francis PT, Morgan K. 2018. Genotyping of the Alzheimer’s disease genome-wide association study index single nucleotide polymorphisms in the brains for Dementia Research Cohort. J Alzheimers Dis 64(2):355–362.

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, Brás JM, ARUK Consortium, Blumenau S, Thielke M, Josties C, Freyer D, Dietrich A, Hammer M, Baier M, Dirnagl U, Morgan K, Powell JF, Kauwe JS, Cruchaga C, Goate AM, Singleton AB, Guerreiro RJ, Hodges A, Hardy J. 2018. Mendelian adult-onset leukodystrophy genes in Alzheimer’s disease: critical influence of CSF1R and NOTCH3. Neurobiol Aging 66:179.e1–179.e29.

Pasanen P, Myllykangas L, Pöyhönen M, Kiviharju A, Siitonen M, Hardy J, Brás JM, Paetau A, Tienari PJ, Guerreiro RJ, Verkkoniemi-Ahola A. 2018. Genetics of dementia in a Finnish cohort. Eur J Hum Genet  26(6).827–837.

Camargos S, Guerreiro RJ, Brás JM, Mageste LS. 2018. Late-onset and acute presentation of Brown-Vialetto-Van Laere syndrome in a Brazilian family. Neurol Genet 4(1):e215.

Rusbridge C, Salguero FJ, David MA, Faller KME, Bras JM, Guerreiro RJ, Richard-Londt AC, Grainger D, Head E, Brandner SGP, Summers B, Hardy J, Tayebi M. 2018. An aged canid with behavioral deficits exhibits blood and cerebrospinal fluid amyloid beta oligomers. Front Aging Neurosci 10:7.

Guerreiro RJ …  Brás JM. 2018. Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study. Lancet Neurol 17(1):64–74.

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 RJ, Brás JM, Hardy J, Munger R, Norton M, Sassi C, Singleton A, Younkin SG, Dickson DW, Golde TE, Price ND, Ertekin-Taner N, Cruchaga C, Goate AM, Corcoran C, Tschanz J, Cannon-Albright LA, Kauwe JSK; Alzheimer’s Disease Neuroimaging Initiative. 2018. Linkage, whole genome sequence, and biological data implicate variants in RAB10 in Alzheimer’s disease resilience. Genome Med 9(1):100.

Chaudhury S, Patel T, Barber IS, Guetta-Baranes T, Brookes KJ, Chappell S, Turton J, Guerreiro RJ, Brás JM, Hernandez D, Singleton A, Hardy J, Mann D; ARUK Consortium, Morgan K. 2017. Polygenic risk score in postmortem diagnosed sporadic early-onset Alzheimer’s disease. Neurobiol Aging 62:244.e1–244.e8.

Giri A, Mok KY, Janesen I, Sharma M, Tesson C, Mangone G, Lesage S, Brás JM, Shulman UM, International Parkinson’s Disease Consortium, Diez-Fairen M, Pastor P, Marti MJ, Ezquerra M, Tolosa E, Correia-Guedes L, Ferreira J, Amin N, van Duijn CM, van Rooij J, Uitterlinden AG, Kraaij R, Nalls M, Simón-Sánchez J. 2017. Lack of evidence for a role of genetic variation in TMEM230 in the risk for Parkinson’s disease in the Caucasian population. Neurobiol Aging 50:167.e13.

Chang D, Nalls MA, Hallgrímsdóttir IB, Hunkapiller J, van der Brug M, Cai F, International Parkinson’s Disease Genomics Consortium, 23andMe Research Team, Kerchner GA, Ayalon G, Bingol B, Sheng M, Hinds D, Behrens TW, Singleton AB, Bhangale TR, Graham RR. 2017. A meta-analysis of genome-wide association studies identifies 17 new Parkinson’s disease risk loci. Nat Genet 49(10):1511–1516.

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, Heutink P, Sharma, International Parkinson’s Disease Genomics Consortium. 2017. Establishing the role of rare coding variants in known Parkinson’s disease risk loci. Neurobiol Aging 59:220.e11–240.e18.

Darwent L, Carmona S, Lohmann E, Guven G, Kun-Rodrigues C, Bilgic B, Hanagasi H, Gurvit H, Erginel-Unaltuna N, Pak M, Hardy J, Singleton A, Brás JM, Guerreiro RJ. 2017. Mutations in TYROBP are not a common cause of dementia in a Turkish cohort. Neurobiol Aging 58:240.e1–240.e3.

Sims R … Brás JM, Guerreiro RJ … Schellenberg GD. 2017. Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer’s disease. Nat Genet 49(9):1373–1384.

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, Brás JM, Guerreiro RJ, Williams J, Sims R, Lubbe S, Hernandez DG, Mok KY, Robak L, Campbell RH, Rogaeva E, Traynor BJ, Chia R, Chung SJ, International Parkinson’s Disease Genomics Consortium (IPDGC), COURAGE-PD Consortium, Hardy JA, Brice A, Wood NW, Houlden H, Shulman JM, Morris HR, Gasser T, Krüger R, Heutink P, Sharma M, Simón-Sánchez J, Nalls MA, Singleton AB, Scholz SW. 2017. NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases. Neurobiol Aging 57:247.e13.

Ngoh A, Brás JM, Guerreiro RJ, McTague A, Ng J, Meyer E, Chong WK, Boyd S, MacLellan L, Kirkpatrick M, Kurian MA. 2017. BC1D24 mutations in a sibship with multifocal polymyoclonus. Tremor Other Hyperkinet Mov (NY) 7:452.

Lane CA, Parker TD, Cash DM, Macpherson K, Donnachie E, Murray-Smith H, Barnes A, Barker S, Beasley DG, Brás JM, Brown D, Burgos N, Byford M, Jorge Cardoso M, Carvalho A, Collins J, De Vita E, Dickson JC, Epie N, Espak M, Henley SMD, Hoskote C, Hutel M, Klimova J, Malone IB, Markiewicz P, Melbourne A, Modat M, Schrag A, Shah S, Sharma N, Sudre CH, Thomas DL, Wong A, Zhang H, Hardy J, Zetterberg H, Ourselin S, Crutch SJ, Kuh D, Richards M, Fox NC, Schott JM. 2017. Study protocol: Insight 46 – a neuroscience sub-study of the MRC National Survey of Health and Development. BMC Neurol 17(1):75.

Siitonen M, Börjesson-Hanson A, Pöyhönen M, Ora A, Pasanen P, Brás JM, Kern S, Kern J, Andersen O, Stanescu H, Kleta R, Baumann M, Kalaria R, Kalimo H, Singleton A, Hardy J, Viitanen M, Myllykangas L, Guerreiro RJ. 2017. Multi-infarct dementia of Swedish type is caused by a 3’UTR mutation of COL4A1. Brain 140(5):e29.

Ganos C, Brás JM. 2017. Ataxia with oculomotor apraxia is associated with the DNA damage repair pathway. Mov Disord 32(5):720.

Schneider SA, Brás JM. 2017. Mouse models of kufor-rakeb disease link Parkinson’s disease closer to neuronal ceroid lipofuscinosis, suggesting lysosomal dysfunction as shared mechanism. Mov Disord 32(2):209.

Blauwendraat C, Nalls MA, Federoff M, Pletnikova O, Ding J, Letson C, Geiger JT, Gibbs JR, Hernandez DG, Troncoso JC, Simón-Sánchez J, Scholz SW, International Parkinson’s Disease Genomics Consortium. 2017. ADORA1 mutations are not a common cause of Parkinson’s disease and dementia with Lewy bodies. Mov Disord 32(2):298–299.

Barber IS, Braae A, Clement N, Patel T, Guetta-Baranes T, Brookes K, Medway C, Chappell S, Guerreiro RJ, Brás JM, Hernandez D, Singleton A, Hardy J, Mann DM; ARUK Consortium, Morgan K. 2017. Mutation analysis of sporadic early-onset Alzheimer’s disease using the NeuroX array. Neurobiol Aging 49:215.e1–215.e8.

Pasanen P, Mäkinen J, Myllykangas L, Guerreiro RJ, Brás JM, Valori M, Viitanen M, Baumann M, Tienari PJ, Pöyhönen M, Baumann P. 2017. Primary familial brain calcification linked to deletion of 5′ noncoding region of SLC20A2. Acta Neurol Scand 136(1):59–63.

Kun-Rodrigues C … Guerreiro RJ, Brás JM. 2017. Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies. 49:214.e13–215.e15.

Pottier C, Ravenscroft TA, Brown PH, Finch NA, Baker M, Parsons M, Asmann YW, Ren Y, Christopher E, Levitch D, van Blitterswijk M, Cruchaga C, Campion D, Nicolas G, Richard AC, Guerreiro RJ, Brás JM, Zuchner S, Gonzalez MA, Bu G, Younkin S, Knopman DS, Josephs KA, Parisi JE, Petersen RC, Ertekin-Taner N, Graff-Radford NR, Boeve BF, Dickson DW, Rademakers R. 2017. TYROBP genetic variants in early-onset Alzheimer’s disease. Neurbiol Aging 48:222.e9–222.e15.

Fountain MD, Aten E, Cho MT, Juusola J, Walkiewicz MA, Ray JW, Xia F, Yang Y, Graham BH, Bacino CA, Potocki L, van Haeringen A, Ruivenkamp CA, Mancias P, Northrup H, Kukolich MK, Weiss MM, van Ravenswaaij-Arts CM, Mathijssen IB, Levesque S, Meeks N, Rosenfeld JA, Lemke D, Hamosh A, Lewis SK, Race S, Stewart LL, Hay B, Lewis AM, Guerreiro RJ, Brás JM, Martins MP, Derksen-Lubsen G, Peeters E, Stumpel C, Stegmann S, Bok LA, Santen GW, Schaaf CP. 2017. The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families. Genet Med 19(1):45–52.

Lubbe SJ, Escott-Price V, Brice A, Gasser T, Pittman AM, Brás JM, Hardy J, Heutink P, Wood NM, Singleton AB, Grosset DG, Carroll CB, Law MH, Demenais F, Iles MM; Melanoma Meta-Analysis Consortium, Bishop DT, Newton-Bishop J, Williams NM, Morris HR, International Parkinson’s Disease Genomics Consortium. 2016. Rare variants analysis of cutaneous malignant melanoma genes in Parkinson’s disease. Neurobiol Aging 48:222.e1–222.e7.

Guven G, Lohmann E, Brás JM, Gibbs JR, Gurvit H, Bilgic B, Hanagasi H, Rizzu P, Heutink P, Emre M, Erginel-Unaltuna N, Just W, Hardy J, Singleton A, Guerreiro RJ. 2016. Mutation frequency of the major frontotemporal dementia genes, MAPT, GRN and C9ORF72 in a Turkish cohort of dementia patients. PLoS One 11(9):e0162592.

Ngoh A, Brás JM, Guerreiro RJ, Meyer E, McTague A, Dawson E, Mankad K, Gunny R, Clayton P, Mills PB, Thornton R, Lai M, Forsyth R, Kurian MA. 2016. RARS2 mutations in a sibship with infantile spasms. Epilepsia 57(5):e97–e102.

Ganos C, Crowe B, Stamelou M, Kresojević N, Lukić MJ, Brás JM, Guerreiro RJ, Taiwo F, Balint B, Batla A, Schneider SA, Erro R, Svetel M, Kostić V, Kurian MA, Bhatia KP. 2016. The clinical syndrome of dystonia with anarthria/aphonia. Parkinsonism Relat Disord 24:20–27.

Barber IS, García-Cárdenas JM, Sakdapanichkul C, Deacon C, Zapata Erazo G, Guerreiro RJ, Brás JM, Hernandez D, Singleton A, Guetta-Baranes T, Braae A, Clement N, Patel T, Brookes K, Medway C, Chappell S, Mann DM; ARUK Consortium, Morgan K. 2016. Screening exons 16 and 17 of the amyloid precursor protein gene in sporadic early-onset Alzheimer’s disease. Neurobiol Aging 39:220.e1–7.

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, Schiff ER, Levine AP, Brice A, Gasser T, Hardy J, Heutink P, Wood NW, Singleton AB, Williams NM, Morris HR; for International Parkinson’s Disease Genomics Consortium. 2016. Additional rare variant analysis in Parkinson’s disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance. Hum Mol Genet 25(24):5483–5489.

Beesley C, Guerreiro RJ, Brás JM, Williams RE, Taratuto AL, Eltze C, Mole SE. 2016. CLN8 disease caused by large genomic deletions. Mol Genet Genomic Med 5(1):85–91.

Brás JM, Djaldetti R, Alves AM, Mead S, Darwent L, Lleo A, Molinuevo JL, Blesa R, Singleton A, Hardy J, Clarimon J, Guerreiro RJ. 2016. Exome sequencing in a consanguineous family clinically diagnosed with early-onset Alzheimer’s disease identifies a homozygous CTSF mutation. Neurobiol Aging 46:236.e1–6.

Guerreiro RJ, Brás JM, Batista S, Pires P, Ribeiro MH, Almeida MR, Oliveira C, Hardy J, Santana I. 2016. Pseudohypoparathyroidism type I-b with neurological involvement is associated with a homozygous PTH1R mutation. Genes Brain Behav 15(7):669–677.

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, Brás JM, Almeida MR; ARUK Consortium, Holstege H, Louwersheimer E, van der Flier WM, Scheltens P, Van Swieten JC, Santana I, Oliveira C, Morgan K, Powell JF, Kauwe JS, Cruchaga C, Goate AM, Singleton AB, Guerreiro RJ, Hardy J. 2016. ABCA7 p.G215S as potential protective factor for Alzheimer’s disease. Neurobiol Aging 46:235e1–9.

Guerreiro RJ, Brown R, Dian D, de Goede C, Brás JM, Mole SE. 2016. Mutation of TBCK causes a rare recessive developmental disorder. Neurol Genet 2(3):e76.

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, ARUK Consortium, Morgan K, Powell JF, Kauwe JS, Cruchaga C, Brás JM, Goate AM, Singleton AB, Guerreiro RJ, Hardy J. 2016. Influence of coding variability in APP-Aβ metabolism genes in sporadic Alzheimer’s disease. PLoS One 11(6):e0150079.

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, International Parkinson’s Disease Genomics Consortium. 2016. Is the MC1R variant p.R160W associated with Parkinson’s? Ann Neurol 79(1):159–161.

Scholz SW, Brás JM. 2015. Genetics underlying atypical Parkinsonism and related neurodegenerative disorders. Int J Mol Sci 16(10):24629–24655.

Guerreiro RJ, Brás JM. 2015. The age factor in Alzheimer’s disease. Genome Med 7:106.

Kun-Rodrigues C, Ganos C, Guerreiro RJ, Schneider SA, Schulte C, Lesage S, Darwent L, Holmans P, Singleton A; International Parkinson’s Disease Genomics Consortium (IPDGC), Bhatia K, Brás JM. 2015. A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson’s disease. Hum Mol Genet 24(23):6711–6720.

Jansen IE, Brás 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; IPDGC. 2015. CHCHD2 and Parkinson’s disease. Lancet Neurol14(7):678–679.

Nichols N, Brás JM, Hernandez DG, Jansen IE, Lesage S, Lubbe S, Singleton AB; International Parkinson’s Disease Genomics Consortium. 2015. EIF4G1 mutations do not cause Parkinson’s disease. Neurobiol Aging 36(8):2444.e1–4.

Erro R, Hersheson J, Ganos C, Mencacci NE, Stamelou M, Batla A, Thust SC, Bras JM, Guerreiro RJ, Hardy J, Quinn NP, Houlden H, Bhatia KP. 2015. H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations? Mov Disord 30(6):828–833.

Brás JM, Alonso I, Barbot C, Costa MM, Darwent L, Orme T, Sequeiros J, Hardy J, Coutinho P, Guerreiro RJ. 2015. Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4. Am J Hum Genet 96(3):474–479.

Guerreiro RJ, Brás JM, Hardy J. 2015. SnapShot: Genetics of Parkinson’s disease. Cell 160(3):828–833.

Brás JM, Guerreiro RJ, Teo JTH, Darwent L, Vaughan J, Molloy S, Hardy J, Schneider SA. 2014.  Atypical Parkinsonism-Dystonia Syndrome caused by a novel DJ1 mutation. Mov Disord 1(1):45–49.

Sassi C, Guerreiro RJ, 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, Brás JM, Alzheimer’s Research UK Consortium, Morgan K, Powell JF, Singleton A, Hardy J. 2014. Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer’s disease. Neurobiol Aging 35(12):2881.e1–2881.e6.

Nalls MA … Singleton AB. 2014. Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson’s disease. Nat Genet 46(9):989–893.

Guerreiro RJ, Brás JM, Wojtas A, Rademakers R, Hardy J, Graff-Radford N. 2014. Nonsense mutation in PRNP associated with clinical Alzheimer’s disease. Neurobiol Aging 35(11):2656.e13–2656.e16.

Sassi C, Guerreiro RJ, 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, Harris J, Brás JM, ARUK Consortium, Morgan K, Powell JF, Singleton A, Hardy J. 2014. Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer’s disease. Neurobiol Aging 35(10):2422.e13–16.

Beilina A, Rudenko IN, Kaganovich A, Civiero L, Chau H, Kalia SK, Kalia LV, Lobbestael E, Chia R, Ndukwe K, Ding J, Nalls MA; International Parkinson’s Disease Genomics Consortium; North American Brain Expression Consortium, Olszewski M, Hauser DN, Kumaran R, Lozano AM, Baekelandt V, Greene LE, Taymans JM, Greggio E, Cookson MR. 2014. Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease. Proc Natl Acad Sci U S A  111(7):2626–2631.

Benitez BA, Jin SC, Guerreiro RJ, Graham R, Lord J, Harold D, Sims R, Lambert JC, Gibbs JR, Brás JM, Sassi C, Harari O, Bertelsen S, Lupton MK, Powell J, Bellenguez C, Brown K, Medway C, Haddick PC, van der Brug MP, Bhangale T, Ortmann W, Behrens T, Mayeux R, Pericak-Vance MA, Farrer LA, Schellenberg GD, Haines JL, Turton J, Braae A, Barber I, Fagan AM, Holtzman DM, Morris JC; 3C Study Group; EADI consortium; Alzheimer’s Disease Genetic Consortium (ADGC); Alzheimer’s Disease Neuroimaging Initiative (ADNI); GERAD Consortium, Williams J, Kauwe JS, Amouyel P, Morgan K, Singleton A, Hardy J, Goate AM, Cruchaga C. 2014. Missense variant in TREML2 protects against Alzheimer’s disease. Neurobiol Aging 35(6):1510.e19–26.

Cruchaga C, Karch CM, Jin SC, Benitez BA, Cai Y, Guerreiro RJ, Harari O, Norton J, Budde J, Bertelsen S, Jeng AT, Cooper B, Skorupa T, Carrell D, Levitch D, Hsu S, Choi J, Ryten M, Sassi C, Brás JM, Gibbs RJ, Hernandez DG, Lupton MK, Powell J, Forabosco P, Ridge PG, Corcoran CD, Tschanz JT, Norton MC, Munger RG, Schmutz C, Leary M, Demirci FY, Bamne MN, Wang X, Lopez OL, Ganguli M, Medway C, Turton J, Lord J, Braae A, Barber I, Brown K; Alzheimer’s Research UK (ARUK) Consortium, Pastor P, Lorenzo-Betancor O, Brkanac Z, Scott E, Topol E, Morgan K, Rogaeva E, Singleton A, Hardy J, Kamboh MI, George-Hyslop PS, Cairns N, Morris JC, Kauwe JSK, Goate AM. 2014. Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer’s disease. Nature 505(7484):550–554.

Kara E, Xiromerisiou G, Spanaki C, Bozi M, Koutsis G, Panas M, Dardiotis E, Ralli S, Brás JM, Letson C, Edsall C, Pliner H, Arepalli S, Kalinderi K, Fidani L, Bostantjopoulou S, Keller MF, Wood NW, Hardy J, Houlden H, Stefanis L, Plaitakis A, Hernandez D, Hadjigeorgiou GM, Nalls MA, Singleton AB. 2014. Assessment of Parkinson’s disease risk loci in Greece. Neurobiol Aging 35(2):442.e9–442.e16.

Guerreiro RJ, Brás JM, Hardy J. 2013. SnapShot: genetics of Alzheimer’s disease. Cell 155(4):968.

Holmans P, Moskvina V, Jones L, Sharma M, International Parkinson’s Disease Genomics Consortium, Vedernikov A, Buchel F, Saad M, Brás JM, Bettella F, Nicolaou N, Simón-Sánchez J, Mittag F, Gibbs JR, Schulte C, Durr A, Guerreiro RJ, Hernandez D, Brice A, Stefánsson H, Majamaa K, Gasser T, Heutink P, Wood NW, Martinez M, Singleton AB, Nalls MA, Hardy J, Morris HR, Williams NM. 2013. A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson’s disease. Hum Mol Genet 22(5):1039–1049.

Moskvina V, Harold D, Russo G, Vedernikov A, Sharma M, Saad M, Holmans P, Brás JM, Bettella F, Keller MF, Nicolaou N, Simón-Sánchez J, Gibbs JR, Schulte C, Durr A, Guerreiro RJ, Hernandez D, Brice A, Stefánsson H, Majamaa K, Gasser T, Heutink P, Wood N, Martinez M, Singleton AB, Nalls MA, Hardy J, Owen MJ, O’Donovan MC, Williams J, Morris HR, Williams NM; IPDGC and GERAD Investigators. 2013. 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 Neurol 70(10):1268–1276.

Klebe S, Golmard JL, Nalls MA, Saad M, Singleton AB, Brás 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). 2013. 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(6):666–673.

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. 2013. Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement. JAMA Neurol 70(1):78–84.

Brás JM. 2013. Lysosomal storage disorders and iron. Int Rev Neurobiol 110:251–275.

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. 2012. Exome sequencing reveals an unexpected genetic cause of disease: NOTCH3 mutation in a Turkish family with Alzheimer’s disease. Neurobiol Aging 33(5):1008.e1–23.

Guerreiro RJ, Bilgic B, Guven G, Brás JM, Rohrer J, Lohmann E, Hanagasi H, Gurvit H, Emre M. 2013. Novel compound heterozygous mutation in TREM2 found in a Turkish frontotemporal dementia-like family. Neurobiol Aging 34(12):2890ed.1–5.

Guerreiro RJ, Brás JM, Vieira M, Warrier V, Agrawal S, Stewart H, Anderson G, Mole SE. 2013. CLN6 disease caused by the same mutation originating in Pakistan has varying pathology. Eur J Paediatr Neurol 17(6):657–660.

Guerreiro RJ, Kara E, Le Ber I, Brás JM, Rohrer JD, Taipa R, Lashley T, Dupuits C, Gurunlian N, Mochel F, Warren JD, Hannequin D, Sedel F, Depienne C, Camuzat A, Golfier V, Du Boisguéheneuc F, Schottlaender L, Fox NC, Beck J, Mead S, Rossor MN, Hardy J, Revesz T, Brice A, Houlden H. 2013. Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene. JAMA Neurol 70(7):875–882.

Nalls MA … Brás JM …Sidransky E. 2013. A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies.  JAMA Neurol 70(6):727–735.

Guerreiro RJ, Wojtas A, Brás JM, Carrasquillo M, Rogaeva E, Majounie E, Cruchaga C, Sassi C, Kauwe JS, Younkin S, Hazrati L, Collinge J, Pocock J, Lashley T, Williams J, Lambert JC, Amouyel P, Goate A, Rademakers R, Morgan K, Powell J, St George-Hyslop P, Singleton A, Hardy J; Alzheimer Genetic Analysis Group. 2013. TREM2 variants in Alzheimer’s disease. N Engl J Med 368(2):117–127.

Keller MF, Saad M, Brás JM, 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, Guerreiro RJ, Hernandez DG, Brice A, Ylikotila P, Stefánsson H, Majamaa K, Morris HR, Williams N, Gasser T, Heutink P, Wood NW, Hardy J, Martinez M, Singleton AB, Nalls MA; International Parkinson’s Disease Genomics Consortium (IPDGC); Wellcome Trust Case Control Consortium 2 (WTCCC2). 2013. Using genome-wide complex trait analysis to quantify ‘missing heritability’ in Parkinson’s disease. Hum Mol Genet 21(22):4996–5009.

Charlesworth G, Gandhi S, Brás JM, Barker RA, Burn DJ, Chinnery PF, Gentleman SM, Guerreiro RJ, Hardy J, Holton JL, Lees A, Morrison K, Sheerin UM, Williams N, Morris H, Revesz T, Wood NW. 2012. Tau acts as an independent genetic risk factor in pathologically proven PD. Neurobiol Aging 33(4):838.e7–11.

Brás JM, Guerreiro RJ, Hardy J. 2012. Use of next-generation sequencing and other whole-genome strategies to dissect neurological disease. Nat Rev Neurosci 13(7):453–464.

McNeill A, Duran R, Proukakis C, Brás JM, Hughes D, Mehta A, Hardy J, Wood NW, Schapira AH. 2012. Hyposmia and cognitive impairment in Gaucher disease patients and carriers. Mov Disord 27(4):526–532.

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. 2012. Exome sequencing reveals an unexpected genetic cause of disease: NOTCH3 mutation in a Turkish family with Alzheimer’s disease.  Neurobiol Aging 33(5):1008.e17–23.

Brás JM, Singleton AB. 2011. Exome sequencing in Parkinson’s disease. 80(2):104–109.

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, Masdeu J, Molina-Porcel L, Molinuevo JL, Pastor P, Pérez-Tur J, Relvas R, Oliveira CR, Ribeiro MH, Rogaeva E, Sa A, Samaranch L, Sánchez-Valle R, Santana I, Tàrraga L, Valdivieso F, Singleton A, Hardy J, Clarimón J. 2010. Genetic screening of Alzheimer’s disease genes in Iberian and African samples yields novel mutations in presenilins and APP. Neurobiol Aging 31(5):725–731.

van de Leemput J, Wavrant-De Vrièze F, Rafferty I, Brás JM, Giunti P, Fisher EM, Hardy JA, Singleton AB, Houlden H. 2010. Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia series. Mov Disord 25(6):771–773.

Brás JM, Singleton A. 2009. Genetic susceptibility in Parkinson’s disease. 1792(7):587–603.

Simón-Sánchez J, Schulte C, Brás 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. 2009. Genome-wide association study reveals genetic risk underlying Parkinson’s disease. Nat Genet 41(12):1308–1312.

Sidransky E, Nalls MA, Aasly JO, Aharon-Peretz J, Annesi G, Barbosa ER, Bar-Shira A, Berg D, Brás JM, Brice A, Chen CM, Clark LN, Condroyer C, De Marco EV, Dürr A, Eblan MJ, Fahn S, Farrer MJ, Fung HC, Gan-Or Z, Gasser T, Gershoni-Baruch R, Giladi N, Griffith A, Gurevich T, Januario C, Kropp P, Lang AE, Lee-Chen GJ, Lesage S, Marder K, Mata IF, Mirelman A, Mitsui J, Mizuta I, Nicoletti G, Oliveira C, Ottman R, Orr-Urtreger A, Pereira LV, Quattrone A, Rogaeva E, Rolfs A, Rosenbaum H, Rozenberg R, Samii A, Samaddar T, Schulte C, Sharma M, Singleton A, Spitz M, Tan EK, Tayebi N, Toda T, Troiano AR, Tsuji S, Wittstock M, Wolfsberg TG, Wu YR, Zabetian CP, Zhao Y, Ziegler SG. 2009. Multicenter analysis of glucocerebrosidase mutations in Parkinson’s disease. N Engl J Med 361(17):1651–1661.

Scholz SW, Houlden H, Schulte C, Sharma M, Li A, Berg D, Melchers A, Paudel R, Gibbs JR, Simon-Sanchez J, Paisan-Ruiz C, Brás JM, Ding J, Chen H, Traynor BJ, Arepalli S, Zonozi RR, Revesz T, Holton J, Wood N, Lees A, Oertel W, Wüllner U, Goldwurm S, Pellecchia MT, Illig T, Riess O, Fernandez HH, Rodriguez RL, Okun MS, Poewe W, Wenning GK, Hardy JA, Singleton AB, Del Sorbo F, Schneider S, Bhatia KP, Gasser T. 2009. SNCA variants are associated with increased risk for multiple system atrophy. Ann Neurol 65(5):610–614.

Neumann J, Brás JM, Deas E, O’Sullivan SS, Parkkinen L, Lachmann RH, Li A, Holton J, Guerreiro RJ, Paudel R, Segarane B, Singleton A, Lees A, Hardy J, Houlden H, Revesz T, Wood NW. 2009. Glucocerebrosidase mutations in clinical and pathologically proven Parkinson’s disease. Brain 231(pt.7):1783–1784.

Nalls MA, Guerreiro RJ, Simon-Sanchez J, Brás JM, Traynor BJ, Gibbs JR, Launer L, Hardy J, Singleton AB. 2009. Extended tracts of homozygosity identify novel candidate genes associated with late-onset Alzheimer’s disease. Neurogenetics 10(3):183–190.

Brás JM, Singleton A. 2009. Genetic susceptibility in Parkinson’s disease. Biochim Biophys Acta 1792(7):597–603.

Brás JM, Paisan-Ruiz C, Guerreiro RJ, Ribeiro MH, Morgadinho A, Januario C, Sidransky E, Oliveira C, Singleton A. 2009. Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal. Neurobiol Aging 30(9):1515–1517.

Guerreiro RJ, Santana I, Brás JM, Revesz T, Rebelo O, Ribeiro MH, Santiago B, Oliveira CR, Singleton A, Hardy J. 2008. Novel progranulin mutation: screening for PGRN mutations in a Portuguese series of FTD/CBS cases. Mov Disord 23(9):1699–1673.

Camargos S, Scholz S, Simón-Sánchez J, Paisán-Ruiz C, Lewis P, Hernandez D, Ding J, Gibbs JR, Cookson MR, Brás JM, Guerreiro RJ, Oliveira CR, Lees A, Hardy J, Cardoso F, Singleton AB. 2008. DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA.  Lancet Neurol 7(3):207–215.

Jakobsson M, Scholz SW, Scheet P, Gibbs JR, VanLiere JM, Fung HC, Szpiech ZA, Degnan JH, Wang K, Guerreiro RJ, Brás JM, Schymick JC, Hernandez DG, Traynor BJ, Simon-Sanchez J, Matarin M, Britton A, van de Leemput J, Rafferty I, Bucan M, Cann HM, Hardy JA, Rosenberg NA, Singleton AB. 2008. Genotype, haplotype and copy-number variation in worldwide human populations. Nature 451(7181):998–1003.

Guerreiro RJ, Santana I, Brás JM, Santiago B, Paiva A, Oliveira C. 2007. Peripheral inflammatory cytokines as biomarkers in Alzheimer’s disease and mild cognitive impairment. Neurodegener Dis 4(6):406–412.

Guerreiro RJ, Brás JM, Santana I, Januario C, Santiago B, Morgadinho AS, Ribeiro MH, Hardy J, Singleton A, Oliveira C. 2006. Association of HFE common mutations with Parkinson’s disease, Alzheimer’s disease and mild cognitive impairment in a Portuguese cohort. BMC Neurol 6:24.

Brás JM, Guerreiro RJ, Ribeiro MH, Januario C, Morgadinho A, Oliveira CR, Cunha L, Hardy J, Singleton A. 2005. G2019S dardarin substitution is a common cause of Parkinson’s disease in a Portuguese cohort. Mov Disord 20(12):1652–1655.