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Yu E, Larivière R, Thomas RA, Liu L, Senkevich K, Rahayel S, Trempe JF, Fon EA, and Gan-Or Z. Identification of novel variants, genes and pathways potentially linked to Parkinson’s disease using machine learning. Brain, in press. 2023.

Le Guen Y, Luo G, Ambati A, Damotte V, Jansen I, Yu E, Nicolas A, de Rojas I, Leal TP, Miyashita A, Bellenguez C, Lian MM, Parveen K, Park H, Grenier-Boley B, Naito T, Küçükali F, Talyanski SD, Satake W, Yogeshwar SM, Sempere V, Alvarez V, B Arosio, Belloy ME, Benussi L, Boland A, Borroni B, Bullido MJ, Caffarra P, Clarimon J, Daniele A, Darling D, Debette S, Deleuze JF, Dichgans M, Dufouil C, During E, Düzel E, Galimberti D, Garcia-Ribas G, García-Alberca JM, García-González P, V Giedraitis, Goldhardt O, Graff C, Grünblatt E, Hanon O, Hausner L, Heilmann-Heimbach S, Holstege H, Hort J, Jung YJ, Jürgen D, Kuulasmaa T, Ling L, van der Lugt A, Masullo C, Mecocci P, Mehrabian S, de Mendonça A, Mercè B, Mir P, Moebus S, Moreno F, Nacmias B, Nicolas G, Nordestgaard BG, Oksenberg J, G Papenberg, Parnetti L, Pasquier F, Pastor P, O Peters, Pijnenburg YAL, Piñol-Ripoll G, Popp J, Porcel LM, Puerta R, Pérez-Tur J, I Rainero, Ramakers I, Real LM, Riedel-Heller S, Rodriguez-Rodriguez E, Royo JL, Rujescu D, Scarmeas N, Scheltens P, Scherbaum N, Schneider A, Seripa D, Solfrizzi V, Spalletta G, Squassina A, van Swieten J, Sánchez-Valle R, Tegos T, Tremolizzo L, Vyhnalek M, Verhey F, Wiltfang J, Zhang J, Williams J, Amouyel P, Jessen F, Kehoe P, Andreassen O, Van Duin C, Tsolaki M, Sánchez-Juan P, Frikke-Schmidt R, Sleegers K, Toda T, Ingelsson M, Okada Y, Rossi G, Hiltunen M, Gim J, Sims R, Foo JN, van der Flier W, Ikeuchi T, Ramirez A, Matta I, Ruiz A, Gan-Or Z, Lambert JC, Greicius MD and Mignot E. Protective association of HLA-DRB1*04 subtypes in neurodegenerative diseases implicates acetylated Tau PHF6 sequences. Proceedings of the National Academy of Sciences (PNAS). 2023. ,

Rahayel S, Tremblay C, Vo A, Mišić B, Lehéricy S, Arnulf I, Vidailhet M, Corvol JC, the ICEBERG Study Group, Gagnon JF, Postuma RB, Montplaisir JY, Lewis S, Matar E, Martens KE, Borghammer P, Knudsen K, Hansen AK, Monchi O, Gan-Or Z* and Dagher A* (*equal contribution). Mitochondrial function-associated genes underlie cortical atrophy in prodromal synucleinopathies. Brain. 2023. ,

Parlar SC, Grenn FP, Kim JJ, Blauwendraat C and Gan-Or Z. Classification of GBA1 variants in Parkinson disease; the GBA1-PD browser. Movement Disorders. 2023. 38(3):489-495 ,

Krohn L, Heilbron K, Blauwendraat C, Reynolds RH, Yu E, Senkevich K, Rudakou U, Estiar MA, Gustavsson EK, Brolin K, Ruskey JA, Freeman K, Asayesh F, Chia R, Arnulf I, Hu MTM, Montplaisir JY, Gagnon JF, Desautels A, Dauvilliers Y, Gigli GL, Valente M, Janes F, Bernardini A, Högl B, Stefani A, Abubaker I, Sonka K, Kemlink D, Oertel W, Janzen A, Plazzi G, Biscarini F, Antelmi E, Figorilli M, Puligheddu M, Mollenhauer B, Trenkwalder C, Sixel-Döring F, Cochen De Cock V, Monaca CC, Heidbreder A, Ferini-Strambi L, Dijkstra F, Viaene M, Abril B, Boeve BF, 23andMe Research Team, Scholz SW, Ryten M, Bandres-Ciga S, Noyce A, Cannon P, Pihlstrøm L, Nalls MA, Singleton AB, Rouleau GA, Postuma RB and Gan-Or Z. Genome-wide association study of REM sleep behavior disorder identifies novel loci with distinct polygenic and brain expression effects. Nature Communications. 2022. 13(1):7496. ,

Senkevich K, Zorca CE, Dworkind A, Rudakou U, Somerville E, Yu E, Ermolaev A, Nikanorova D, Ahmad J, Ruskey JA, Asayesh F, Spiegelman D, Fahn S, Waters C, Monchi O, Dauvilliers Y, Dupré N, Greenbaum L, Hassin-Baer S, Grenn FP, Chiang MSR, Sardi SP, Vanderperre B, Blauwendraat C, Trempe JF, Fon EA, Durcan TM, Alcalay RN and Gan-Or Z. GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson’s disease. Brain. 2022. 146(5):1859-1872. ,

Yu E, Ambati A, Andersen MS, Krohn L, Estiar MA, Saini P, Senkevich K, Sosero YL, Sreelatha AAK, Ruskey JA, Asayesh F, Spiegelman D, Toft M, Viken MK, the International Parkinson’s Disease Genomics Consortium (IPDGC), Sharma M, Blauwendraat C, Pihlstrøm L, Mignot E and Gan-Or Z. Fine mapping of the HLA locus in Parkinson’s disease in Europeans. npj Parkinson’s Disease. 2021. 7(1):84. ,

Estiar MA, Yu E, Haj Salem I, Ross JP, Mufti K, Akçimen F, Leveille E, Spiegelman D, Ruskey JA, Asayesh F, Dagher A, Yoon G, Tarnopolsky M, Boycott KM, Dupre N, Dion PA, Suchowersky O, Trempe JF, Rouleau GA and Gan-Or Z. Evidence for non-Mendelian inheritance in spastic paraplegia 7. Movement Disorders. 2021. 36(7):1664-1675. ,

Chia R, Sabir MS, Bandres-Ciga S, Saez-Atienzar S, Reynolds RH, Gustavsson E, Walton RL, Ahmed S, Viollet C, Ding J, Makarious MB, Diez-Fairen M, Portley MK, Shah Z, Abramzon Y, Hernandez DG, Blauwendraat C, Stone DJ, Eicher J, Parkkinen L, Ansorge O, Clark L, Honig LS, Marder K, Lemstra A, St George-Hyslop P, Londos E, Morgan K, Lashley T, Warner TT, Jaunmuktane Z, Galasko D, Santana I, Tienari PT, Myllykangas L, Oinas M, Cairns NJ, Morris JC, Halliday GM, Van Deerlin VM, Trojanowski JQ, Grassano M, Calvo A, Mora G, Canosa A, Floris G, Bohannan RC, Brett F, Gan-Or Z, Geiger JT, Moore A, May P, Krüger R, Goldstein D, Lopez G, Tayebi N, Sidransky E, Norcliffe-Kaufmann L, Palma JA, Kaufmann H, Shakkottai V, Perkins M, Newell KL, Gasser T, Schulte C, Landi F, Salvi E, Cusi D, Masliah E, Kim RC, Caraway CA, Monuki E, Brunetti M, Dawson TM, Rosenthal LS, Albert MS, Pletnikova O, Troncoso JC, Flanagan ME, Mao Q, Bigio EH, Rodríguez-Rodríguez E, Infante J, Lage C, González-Aramburu I, Sanchez-Juan P, Ghetti B, Keith J, Black SE, Masellis M, Rogaeva E, Duyckaerts C, Brice A, Lesage S, Xiromerisiou G, Barrett MJ, Tilley BS, Gentleman S, Logroscino G, Serrano GE, Beach TG, McKeith IG, Thomas AJ, Attems J, Morris CM, Palmer L, Love S, Troakes C, Al-Sarraj S, Hodges AK, Aarsland D, Klein G, Kaiser SM, Woltjer R, Pastor P, Bekris LM, Leverenz J, Besser LM, Kuzma A, Renton AE, Goate A, Bennett DA, Scherzer CR, Morris HR, Ferrari R, Albani D, Pickering-Brown S, Faber K, Kukull W, Morenas-Rodriguez E, Lleó A, Fortea J, Alcolea D, Clarimon J, Nalls MA, Ferrucci L, Resnick SM, Tanaka T, Foroud TM, Graff-Radford NR, Wszolek ZK, Ferman T, Boeve BF, Hardy JA, Topol E, Torkamani A, Singleton AB, Ryten M, Dickson D, Chiò A, Ross OA, Gibbs JR, Dalgard CL, Traynor BJ and Scholz SW. Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into the complex genetic architecture. Nature Genetics. 2021. 53(3):294-303. ,

Mufti K, Yu E, Rudakou U, Krohn L, Ruskey JA, Asayesh F, Laurent SB, Spiegelman D, Arnulf I, Hu MTM, Montplaisir JY, Gagnon JF, Desautels A, Dauvilliers Y, Gigli GL, Valente M, Janes F, Bernardini A, Högl B, Stefani A, Holzknecht E, Sonka K, Kemlink D, Oertel W, Janzen A, Plazzi G, Antelmi E, Figorilli M, Puligheddu M, Mollenhauer B, Trenkwalder C, Sixel-Döring F, Cochen De Cock V, Monaca CC, Heidbreder A, Ferini-Strambi L, Dijkstra F, Viaene M, Abril B, Boeve B, Trempe JF, Rouleau GA, Postuma RB and Gan-Or Z. Novel associations of BST1 and LAMP3 with rapid eye movement sleep behavior disorder. Neurology. 2021. 96(10):e1402-e1412. ,

Rudakou U, Yu E, Krohn L, Ruskey JA, Dauvilliers Y, Spiegelman D, Greenbaum L, Fahn S, Waters CH, Dupré N, Rouleau GA, Hassin-Baer S, Fon EA, Alcalay RN and Gan-Or Z. Targeted sequencing of Parkinson’s disease loci genes highlights SYT11, FGF20 and other associations. Brain. 2020. 144(2):462-472. ,

Yu E, Rudakov U, Krohn L, Mufti K, Ruskey JA, Asayesh F, Estiar MA, Spiegelman D, Fahn S, Waters CH, Greenbaum L, Espay AJ, Dauvilliers Y, Dupré N, Rouleau GA, Hassin-Baer S, Fon EA, Alcalay RN and Gan-Or Z. Analysis of heterozygous PRKN variants and copy number variations in Parkinson’s disease. Movement Disorders. 2020. 36(1):178-187. ,

Krohn L, Ruskey JA, Rudakou U, Leveille E, Asayesh F, Hu MTM, Arnulf I, Dauvilliers Y, Högl B, Stefani A, Monaca CC, Abril B, Plazzi G, Antelmi E, Ferini-Strambi L, Heidbreder A, Boeve BF, Espay AJ, Cochen De Cock V, Mollenhauer B, Sixel-Döring F, Trenkwalder C, Sonka K, Kemlink D, Figorilli M, Puligheddu M, Dijkstra F, Viaene M, Oertel W, Toffoli M, Gigli GL, Valente M, Gagnon JF, Desautels A, Montplaisir JY, Postuma RB, Rouleau GA and Gan-Or Z. GBA variants in REM sleep behavior disorder: a multicenter study. Neurology. 2020. 95(8):e1008-e1016. ,

Leonard H, Blauwendraat C, Krohn L, Faghri F, Iwaki H, Furgeson G, Day-Williams AG, Stone DJ, International Parkinson’s Disease Genomics Consortium (IPDGC), Singleton AB, Nalls MA and Gan-Or Z. Genetic variability and potential effects on clinical trial outcomes: perspectives in Parkinson’s disease. Journal of Medical Genetics. 2020. 57:331–338. ,

Krohn L, Wu RYJ, Heilbron K, Ruskey JA, Laurent SB, Blauwendraat C, Alam A, Arnulf I, Hu MTM, Dauvilliers Y, Högl B, Toft M, Bjørnarå KA, Stefani A, Holzknecht E, Monaca CC, Beatriz A, Plazzi G, Antelmi E, Ferini-Strambi L, Young P, Heidbreder A, Cochen De Cock V, Mollenhauer B, Sixel-Döring F, Trenkwalder C, Sonka K, Kemlink D, Figorilli M, Puligheddu M, Dijkstra F, Viaene M, Oertel W, Toffoli M, Gigli GL, Valente M, Gagnon JF, Nalls MA, Singleton AB, 23andMe Research Team, Desautels A, Montplaisir JY, Cannon P, Ross OA, Boeve BF, Dupré N, Fon EA, Postuma RB, Pihlstrøm L, Rouleau GA and Gan-Or Z. Fine-mapping of SNCA in REM sleep behavior disorder and overt synucleinopathies. Annals of Neurology. 2020. 87(4):584-598. ,

Krohn L, Öztürk TN, Vanderperre B, Ouled Amar Bencheikh B, Ruskey JA, Laurent SB, Spiegelman D, Postuma RB, Arnulf I, Hu MTM, Dauvilliers Y, Högl B, Stefani A, Monaca CC, Plazzi G, Antelmi E, Ferini-Strambi L, Heidbreder A, Rudakou U, Cochen De Cock V, Young P, Wolf P, Oliva P, Zhang XK, Greenbaum L, Liong C, Gagnon JF, Desautels A, Hassin-Baer S, Montplaisir JY, Dupré N, Rouleau GA, Fon EA, Trempe JF, Lamoureux G, Alcalay RN and Gan-Or Z. Genetic, structural and functional evidence link TMEM175 to synucleinopathies. Annals of Neurology. 2020. 87(1):139-153.

Blauwendraat C, Reed X, Krohn L, Heilborn K, Bandres-Ciga S, Tan M, Gibbs R, Hernandez DG, Kumaran R, Langston R, Bonet-Ponce L, Alcalay RN, Hassin-Baer S, Greenbaum L, Iwaki H, Leonard H, Grenn FP, Ruskey JA, Sabir M, Ahmed S, Makarious MB, Pihlstrøm L, Toft M, van Hilten JJ, Marinus J, Schulte C, Brockmann K, Sharma M, Siitonen A, Majamaa K, Eerola-Rautio J, Tienari PJ, Pantelyat A, Hillis-Trupe AE, Dawson TM, Rosenthal LS, Albert MS, Resnick SM, Ferrucci L, Morris CM, Pletnikova O, Troncoso J, Grosset D, Lesage S, Corvol JC, Brice A, Noyce AJ, Masliah E, Wood N, Hardy J, Shulman LM, Jankovic J, Shulman JM, Heutink P, Gasser T, Cannon P, Scholz SW, Morris H, Cookson M, Nalls MA, Gan-Or Z* and Singleton A* (*equal contribution). Genetic modifiers of risk and age at onset in GBA associated Parkinson’s disease and Lewy body dementia. Brain. 2020. ;143(1):234-248. ,

Nalls MA, Blauwendraat C, Vallerga CL, Heilbron K, Bandres-Ciga S, Chang D, Tan M, Kia DA, Noyce AJ, Xue A, Bras J, Young E, von Coelln R, Simón-Sánchez J, Schulte C, Sharma M, Krohn L, Pihlstrom L, Siitonen A, Iwaki H, Leonard H, Faghri F, Gibbs JR, Hernandez DG, Scholz SW, Botia JA, Martinez M, Corvol JC, Lesage S, Jankovic J, Shulman LM, The 23andMe Research Team, System Genomics of Parkinson's Disease (SGPD) Consortium, Sutherland M, Tienari P, Majamaa K, Toft M, Brice A, Yang J, Gan-Or Z, Gasser T, Heutink P, Shulman JM, Wood N, Hinds DA, Hardy J, Morris HR, Gratten J, Visscher PM, Graham RR, Singleton AB, for the International Parkinson’s Disease Genomics Consortium. Parkinson’s disease genetics: identifying novel risk loci, providing causal insights and improving estimates of heritable risk. Lancet Neurology. 2019. 18(12);1091-1102. ,

Farazi Fard MA, Rebelo AP, Buglo B, Nemati H, Dastsooz H, Gehweiler I, Reich S, Reichbauer J, Quintáns B, Ordóñez-Ugalde A, Cortese A, Courel S, Abreu L, Powell E, Danzi M, Martuscelli NB, Bis-Brewer DM, Tao F, Zarei F, Habibzadeh P, Yavarian M, Modarresi F, Silawi M, Tabatabaei Z, Yousefi M, Farpour HR, Kessler C, Mangold E, Kobeleva X, Mueller AJ, Haack TB, Tarnopolsky M, Gan-Or Z, Rouleau GA, Synofzik M, Sobrido MJ, Jordanova A, Schüle R, Zuchner S and Faghihi MA. Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia. American Journal of Human Genetics. 2019. 4;104(4):767-773.

Schormair B, Zhao C, Bell S, Tilch E, Salminen AV, Pütz B, Dauvilliers Y, Stefani A, Högl B, Poewe W, Kemlink D, Sonka K, Bachmann CG, Paulus W, Trenkwalder C, Oertel WH, Hornyak M, Teder-Laving M, Metspalu A, Hadjigeorgiou GM, Polo O, Fietze I, Ross OA Wszolek Z, Butterworth AS, Soranzo N, Ouwehand WH, Roberts DJ, Danesh J, Allen RP, Earley CJ, Ondo WG, Xiong L, Montplaisir J, Gan-Or Z, Perola M, Vodicka P, Dina C, Franke A, Tittmann L, Stewart AF, Shah SH, Gieger C, Peters A, Rouleau GA, Berger K, Oexle K, Di Angelantonio E, Hinds DA, Müller-Myhsok B and Winkelmann J. Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis. Lancet Neurology. 2017;16 898-907.

Gan-Or Z, Bouslam N, Birouk N, Lissouba A, Chambers DB, Vérièpe J, Androschuck A, Laurent SB, Rochefort D, Spiegelman D, Dionne-Laporte A, Szuto A, Liao M, Figlewicz DA, Bouhouche A, Benomar A, Yahyaoui M, Ouazzani R, Yoon G, Dupré N, Suchowersky O, Bolduc F, Parker JA, Dion PA, Drapeau P, Rouleau GA, Ouled Amar Bencheikh B. Mutations in CAPN1 cause autosomal recessive Hereditary Spastic Paraplegia. American Journal of Human Genetics. 2016;98(5):1038-1046.

Gan-Or Z, Ozelius LJ, Bar-Shira A, Saunders-Pullman R, Mirelman A, Kornreich R, Gana-Weisz M, Raymond D, Rozenkrantz L, Deik A, Gurevich T, Gross SJ, Schreiber-Agus N, Giladi N, Bressman SB, and Orr-Urtreger A. The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease. Neurology 2013;80(17):1606-1610.

Gan-Or Z, Bar-Shira A, Dahary D, Mirelman A, Kedmi M, Gurevich T, Giladi N, Orr-Urtreger A. Sequence alterations in the putative promoter of RAB7L1 are associated with a reduced Parkinson disease risk. JAMA Neurology, 2012;69(1):105-10.

Sidransky E, Aharon-Peretz J, Annesi G, Barbosa ER, Bar-Shira A, Berg D, Bras J, Brice A, Chen C-M, Clark LN, Condroyer C, De Marco VE, Dürr A, Eblan MJ, Fahn S, Farrer M, Fung H-C, Gan-Or Z, Gasser T, Gershoni R, Giladi N, Griffith A, Gurevich T, Januario C, Kropp P, Lang AE, Lee-Chen G-J, Lesage S, Marder K, Mata IF, Mirelman A, Mitsui J, Mizuta I, Nalls MA, Nicoletti G, Oliveira C, Orr-Urtreger A, Pereira L de Veiga, Quattrone A, Rogaeva E, Rolfs A, Rosenbaum H, Rozenberg R, Samii A, Sammadar T, Schulte C, Manu Sharma M, Singleton A, Spitz M, Tan E-K, Tayebi N, Toda T, Troiano A, Tsuji S, Wolfsburg T, Wu Y-R, Zabetian CP, Ziegler SG. Multicenter analysis of glucocerebrosidase mutations in Parkinson disease. New England Journal of Medicine, 2009;361(17):1651-61.

Gan-Or Z, Giladi N, Rozovski U, Shifrin C, Rosner S, Gurevich T, Bar-Shira A, Orr-Urtreger A. Genotype-phenotype correlations between GBA mutations and Parkinson disease risk and onset. Neurology, 2008; 70: 2277–83.