Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into the complex genetic architecture. 

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 architectureNature Genetics. 2021. PubMedPreprint

Investigating the relationship between the SNCA gene and cognitive abilities in idiopathic Parkinson’s Disease using machine learning.

Ramezani M, Mouches P, Yoon E, Rajashekar D, Ruskey JA, Leveille E, Martens K, Kibreab M, Hammer T, Kathol I, Marouf N, Sarna J, Martino D, Pfeffer G, Gan-Or Z, Forkert ND and Monchi O. Investigating the relationship between the SNCA gene and cognitive abilities in idiopathic Parkinson’s Disease using machine learningScientific Reports. 2021. PubMed

LRRK2 p.M1646T is associated with glucocerebrosidase activity and with Parkinson’s disease.

Sosero YLYu EKrohn LRudakou U, Mufti K, Ruskey JAAsayesh F, Laurent SB, Spiegelman D, Fahn S, Waters C, Sardi SP, International Parkinson Disease Genomics Consortium (IPDGC), Bandres-Ciga S, Alcalay RN, Gan-Or Z and Senkevich K. LRRK2 p.M1646T is associated with glucocerebrosidase activity and with Parkinson’s diseaseNeurobiology of Aging. 2021. PubMedPreprint

Targeted sequencing of Parkinson’s disease loci genes highlights SYT11, FGF20 and other associations. 

Rudakou UYu EKrohn LRuskey 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 ZTargeted sequencing of Parkinson’s disease loci genes highlights SYT11, FGF20 and other associations. Brain. 2020. PubMedPreprint

Replication assessment of NUS1 variants in Parkinson’s Disease.

Bustos BI, Bandres-Ciga S, Gibbs JR, Krainc D, Mencacci NE, Gan-Or Z and Lubbe SJ. Replication assessment of NUS1 variants in Parkinson’s DiseaseNeurobiology of Aging. 2020. PubMedPreprint

Association study of DNAJC13, UCHL1, HTRA2, GIGYF2 and EIF4G1 with Parkinson’s disease. 

Saini PRudakou UYu ERuskey JAAsayesh F, Laurent SB, Spiegelman D, Fahn S, Waters C, Monchi O, Dauvilliers Y, Dupré N, Greenbaum L, Hassin-Baer S, Espay AJ, Rouleau GA, Alcalay RN, Fon EA, Postuma RB and Gan-Or ZAssociation study of DNAJC13, UCHL1, HTRA2, GIGYF2 and EIF4G1 with Parkinson’s diseaseNeurobiology of Aging. 2020. PubMedPreprint

Lack of evidence for association of UQCRC1 with Parkinson’s disease in Europeans.

Senkevich K, Bandres-Ciga S, Gan-Or Z and Krohn L. Lack of evidence for association of UQCRC1 with Parkinson’s disease in EuropeansNeurobiology of Aging. 2020. PubMedPreprint

Precision Medicine In Parkinson’s Disease Patients With LRRK2 And GBA Risk Variants – Let’s Get Even More Personal

von Linstow CU, Gan-Or Z and Brundin P. Precision Medicine In Parkinson’s Disease Patients With LRRK2 And GBA Risk Variants – Let’s Get Even More PersonalTranslational Neurodegeneration. 2020. 9(1):39. PubMed

Comprehensive analysis of familial parkinsonism genes in rapid eye movement sleep behavior disorder.

Mufti KRudakou UYu ERuskey JAAsayesh F, Laurent SB, Spiegelman D, Arnulf I, Hu MTM, Montplaisir JY, Gagnon JF, Desautels A, Dauvilliers Y, Gigli GL, Valente M, Janes F, 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 BF, Postuma RB, Rouleau GA and Gan-Or ZComprehensive analysis of familial parkinsonism genes in rapid eye movement sleep behavior disorder. Movement Disorders. 2020. PubMedPreprint

Analysis of heterozygous PRKN variants and copy number variations in Parkinson’s disease.

Yu ERudakov UKrohn L, Mufti K, Ruskey JAAsayesh FEstiar 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 ZAnalysis of heterozygous PRKN variants and copy number variations in Parkinson’s disease. Movement Disorders. 2020. PubMedPreprint