日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Copy Number Variant Duplications Associated with Essential Tremor

与特发性震颤相关的拷贝数变异重复

Medeiros, Miranda; Liao, Calwing; Dilliott, Allison A; Ross, Jay P; Vuokila, Veikko; Aboasali, Farah; Castonguay, Charles-Etienne; Spiegelman, Dan; Hopfner, Franziska; Vilariño-Güell, Carles; García-Martín, Elena; Alonso-Navarro, Hortensia; Agúndez, José A G; Jiménez-Jiménez, Félix Javier; Pastor, Pau; Rajput, Alex; Rajput, Ali; Deuschl, Günther; Kuhlenbäumer, Gregor; Girard, Simon L; Farhan, Sali M K; Dion, Patrick A; Rouleau, Guy A

The GBA1 p.E427K (p.E388K) Variant is a Risk Factor for Synucleinopathies: A Meta-Analysis

GBA1 p.E427K (p.E388K) 变异是突触核蛋白病的一个风险因素:一项荟萃分析

Chifamba, Leah V; Parlar, Sitki Cem; Somerville, Emma N; Liu, Lang; Yu, Eric; Asayesh, Farnaz; Ahmad, Jamil; Teferra, Meron; Ruskey, Jennifer A; Waters, Cheryl; Monchi, Oury; Dauvilliers, Yves; Dupré, Nicolas; Timofeeva, Alla; Emelyanov, Anton; Pchelina, Sofya; Miliukhina, Irina; Greenbaum, Lior; Hassin-Baer, Sharon; Goldstein, Orly; Radefeldt, Mandy; Bauer, Peter; Beetz, Christian; Dilliott, Allison A; Beck, James C; Senkevich, Konstantin; Klein, Christine; Alcalay, Roy N; Gan-Or, Ziv

Ensemblex: an accuracy-weighted ensemble genetic demultiplexing framework for population-scale scRNAseq sample pooling

Ensemblex:一种用于群体规模单细胞RNA测序样本池的基于准确性加权的集成遗传解复用框架

Fiorini, Michael R; Amiri, Saeid; Dilliott, Allison A; Ohki, Cristine M Yde; Smigielski, Lukasz; Walitza, Susanne; Fon, Edward A; Grünblatt, Edna; Thomas, Rhalena A; Farhan, Sali M K

Oligogenic structure of amyotrophic lateral sclerosis has genetic testing, counselling and therapeutic implications

肌萎缩侧索硬化症的寡基因结构具有基因检测、咨询和治疗意义。

Iacoangeli, Alfredo; Dilliott, Allison A; Al Khleifat, Ahmad; Andersen, Peter M; Başak, Nazlı A; Cooper-Knock, Johnathan; Corcia, Philippe; Couratier, Philippe; deCarvalho, Mamede; Drory, Vivian E; Glass, Jonathan D; Gotkine, Marc; Lerner, Yosef M; Hardiman, Orla; Landers, John E; McLaughlin, Russell L; Pardina, Jesus S Mora; Morrison, Karen; Pinto, Susana; Povedano, Monica; Shaw, Christopher E; Shaw, Pamela J; Silani, Vincenzo; Ticozzi, Nicola; van Damme, Philip; van den Berg, Leonard H; Vourc'h, Patrick; Weber, Markus; Veldink, Jan Herman; Dobson, Richard; Rouleau, Guy A; Al-Chalabi, Ammar; Farhan, Sali M K

Novel germline and somatic variants in familial and sporadic meningioma genes

家族性和散发性脑膜瘤基因中的新型种系和体细胞变异

Bencheikh, Bouchra Ouled Amar; Dilliott, Allison A; Gauthier, Julie; Laurent, Sandra Beatrice; Ambalavanan, Amirthagowri; Spiegelman, Dan; Dionne-Laporte, Alexandre; Lyahyai, Jaber; Martuza, Robert L; Sieb, Jörn P; Farhan, Sali M K; Dion, Patrick A; Pulst, Stefan-M; Rouleau, Guy A

Transcriptome-based screening in TARDBP/TDP-43 knock-in motor neurons identifies the NEDD8-activating enzyme inhibitor MLN4924.

在 TARDBP/TDP-43 敲入运动神经元中进行基于转录组的筛选,发现了 NEDD8 激活酶抑制剂 MLN4924

Lépine Sarah, Maussion Gilles, Schneider Alexandria, Nauleau-Javaudin Angela, Castellanos-Montiel María José, Ambriz Georgina Jiménez, Spiegelman Dan, Abdian Narges, Franco-Flores Anna Krystina, Haghi Ghazal, Gursu Lale, Fiorini Michael R, Dilliott Allison A, Farhan Sali M K, Chaineau Mathilde, Durcan Thomas M

Erratum: The Neurodegenerative Disease Knowledge Portal: Propelling Discovery Through the Sharing of Neurodegenerative Disease Genomic Resources

更正:神经退行性疾病知识门户:通过共享神经退行性疾病基因组资源推动发现

Dilliott, Allison A; Costanzo, Maria C; Bandres-Ciga, Sara; Blauwendraat, Cornelis; Casey, Bradford; Hoang, Quy; Iwaki, Hirotaka; Jang, Dongkeun; Kim, Jonggeol Jeffrey; Leonard, Hampton L; Levine, Kristin S; Makarious, Mary; Nguyen, Trang T; Rouleau, Guy A; Singleton, Andrew B; Smadbeck, Patrick; Solle, J; Vitale, Dan; Nalls, Mike; Flannick, Jason; Burtt, Noël P; Farhan, Sali M K

The Neurodegenerative Disease Knowledge Portal: Propelling Discovery Through the Sharing of Neurodegenerative Disease Genomic Resources

神经退行性疾病知识门户:通过共享神经退行性疾病基因组资源推动发现

Dilliott, Allison A; Costanzo, Maria C; Bandres-Ciga, Sara; Blauwendraat, Cornelis; Casey, Bradford; Hoang, Quy; Iwaki, Hirotaka; Jang, Dongkeun; Kim, Jonggeol Jeffrey; Leonard, Hampton L; Levine, Kristin S; Makarious, Mary; Nguyen, Trang T; Rouleau, Guy A; Singleton, Andrew B; Smadbeck, Patrick; Solle, J; Vitale, Dan; Nalls, Mike; Flannick, Jason; Burtt, Noël P; Farhan, Sali M K

The Global Parkinson's Disease Genetics (GP2) Genome Browser

全球帕金森病遗传学(GP2)基因组浏览器

Fang, Zih-Hua; Grant, Riley H; Vitale, Dan; Hernandez, Carlos F; Hong, Samantha; Leonard, Hampton L; Makarious, Mary B; Lange, Lara M; Solomonson, Matthew; Heutink, Peter; Dilliott, Allison A; Galvelis, Kamalini Ghosh; Nalls, Mike A; Singleton, Andrew B; Blauwendraat, Cornelis

Association of plasma biomarkers with cognition, cognitive decline, and daily function across and within neurodegenerative diseases: Results from the Ontario Neurodegenerative Disease Research Initiative

血浆生物标志物与认知、认知衰退和日常功能之间的关联:安大略省神经退行性疾病研究计划的结果

Sanchez, Erlan; Wilkinson, Tim; Coughlan, Gillian; Mirza, Saira; Baril, Andrée-Ann; Ramirez, Joel; Binns, Malcolm A; Black, Sandra E; Borrie, Michael; Dilliott, Allison A; Dixon, Roger A; Dowlatshahi, Dar; Farhan, Sali; Finger, Elizabeth; Fischer, Corinne E; Frank, Andrew; Freedman, Morris; Goncalves, Rafaella A; Grimes, David A; Hassan, Ayman; Hegele, Robert A; Kumar, Sanjeev; Lang, Anthony E; Marras, Connie; McLaughlin, Paula M; Orange, Joseph B; Pasternak, Stephen H; Pollock, Bruce G; Rajji, Tarek K; Roberts, Angela C; Robinson, John F; Rogaeva, Ekaterina; Sahlas, Demetrios J; Saposnik, Gustavo; Strong, Michael J; Swartz, Richard H; Tang-Wai, David F; Tartaglia, Maria Carmela; Troyer, Angela K; Kvartsberg, Hlin; Zetterberg, Henrik; Munoz, Douglas P; Masellis, Mario