Matthew Farrer, PhD, Imperial College - Related publications

Neurogenetics and Translational Medicine University of British Columbia, Vancouver, Vancouver, BC, Canada 
Neurodegenerative diseases
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50 most relevant papers in past 60 days:
Year Citation  Score
2021 Torrealba-Acosta G, Yu E, Lobo-Prada T, Ruíz-Martínez J, Gorostidi-Pagola A, Gan-Or Z, Carazo-Céspedes K, Trempe JF, Mata IF, Fornaguera-Trías J. Clinical and Genetic Analysis of Costa Rican Patients With Parkinson's Disease. Frontiers in Neurology. 12: 656342. PMID 34421783 DOI: 10.3389/fneur.2021.656342   
2021 Guo Y, Sun Y, Song Z, Zheng W, Xiong W, Yang Y, Yuan L, Deng H. Genetic Analysis and Literature Review of Variants in Parkinson's Disease. Frontiers in Aging Neuroscience. 13: 648151. PMID 34456707 DOI: 10.3389/fnagi.2021.648151   
2021 Jiang L, Mei JP, Zhao YW, Zhang R, Pan HX, Yang Y, Sun QY, Xu Q, Yan XX, Tan JQ, Li JC, Tang BS, Guo JF. Low-frequency and rare coding variants of NUS1 contribute to susceptibility and phenotype of Parkinson's disease. Neurobiology of Aging. PMID 34635350 DOI: 10.1016/j.neurobiolaging.2021.09.003   
2021 Chandler RJ, Cogo S, Lewis PA, Kevei E. Modelling the Functional Genomics of Parkinson's in Caenorhabditis elegans: LRRK2 and Beyond. Bioscience Reports. PMID 34397087 DOI: 10.1042/BSR20203672   
2021 Usnich T, Vollstedt EJ, Schell N, Skrahina V, Bogdanovic X, Gaber H, Förster TM, Heuer A, Koleva-Alazeh N, Csoti I, Basak AN, Ertan S, Genc G, Bauer P, Lohmann K, ... , et al. LIPAD (LRRK2/Luebeck International Parkinson's Disease) Study Protocol: Deep Phenotyping of an International Genetic Cohort. Frontiers in Neurology. 12: 710572. PMID 34475849 DOI: 10.3389/fneur.2021.710572   
2021 Wallen ZD, Stone WJ, Factor SA, Molho E, Zabetian CP, Standaert DG, Payami H. Exploring human-genome gut-microbiome interaction in Parkinson's disease. Npj Parkinson's Disease. 7: 74. PMID 34408160 DOI: 10.1038/s41531-021-00218-2   
2021 Li C, Ou R, Hou Y, Chen Y, Gu X, Wei Q, Cao B, Zhang L, Liu K, Chen X, Song W, Zhao B, Wu Y, Shang H. Genetic analysis of TRIM family genes for early-onset Parkinson's disease in Chinese population. Parkinsonism & Related Disorders. 90: 105-113. PMID 34419804 DOI: 10.1016/j.parkreldis.2021.08.005   
2021 Dilliott AA, Abdelhady A, Sunderland KM, Farhan SMK, Abrahao A, Binns MA, Black SE, Borrie M, Casaubon LK, Dowlatshahi D, Finger E, Fischer CE, Frank A, Freedman M, Grimes D, ... , et al. Contribution of rare variant associations to neurodegenerative disease presentation. Npj Genomic Medicine. 6: 80. PMID 34584092 DOI: 10.1038/s41525-021-00243-3   
2021 Jarazo J, Barmpa K, Modamio J, Saraiva C, Sabaté-Soler S, Rosety I, Griesbeck A, Skwirblies F, Zaffaroni G, Smits LM, Su J, Arias-Fuenzalida J, Walter J, Gomez-Giro G, Monzel AS, et al. Parkinson's Disease Phenotypes in Patient Neuronal Cultures and Brain Organoids Improved by 2-Hydroxypropyl-β-Cyclodextrin Treatment. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 34637165 DOI: 10.1002/mds.28810   
2021 Yao S, Zhang X, Zou SC, Zhu Y, Li B, Kuang WP, Guo Y, Li XS, Li L, Wang XY. A transcriptome-wide association study identifies susceptibility genes for Parkinson's disease. Npj Parkinson's Disease. 7: 79. PMID 34504106 DOI: 10.1038/s41531-021-00221-7   
2021 Quan W, Li J, Jin X, Liu L, Zhang Q, Qin Y, Pei X, Chen J. Identification of Potential Core Genes in Parkinson's Disease Using Bioinformatics Analysis. Parkinson's Disease. 2021: 1690341. PMID 34580608 DOI: 10.1155/2021/1690341   
2021 Pan HX, Wang YG, Zhao YW, Zeng Q, Wang Z, Fang ZH, Zhang Y, Zhou X, He RC, Xu Q, Sun QY, Tan JQ, Yan XX, Li JC, Tang BS, et al. Evaluating the role of ARSA in Chinese patients with Parkinson's disease. Neurobiology of Aging. PMID 34531044 DOI: 10.1016/j.neurobiolaging.2021.08.008   
2021 Yang Z, Li Z, Teasdale RD. Retromer dependent changes in cellular homeostasis and Parkinson's disease. Essays in Biochemistry. PMID 34528672 DOI: 10.1042/EBC20210023   
2021 Brolin K, Bandres-Ciga S, Leonard H, Makarious MB, Blauwendraat C, Mata IF, Foo JN, Pihlstrøm L, Swanberg M, Gan-Or Z, Tan MM, . RIC3 variants are not associated with Parkinson's disease in large European, Latin American, or East Asian cohorts. Neurobiology of Aging. PMID 34538707 DOI: 10.1016/j.neurobiolaging.2021.08.009   
2021 Lu X, Song N, Wang W, Liu Y, Song H, Xu L, Wang Y, Wei C, Chen J, Yang X, Han F. Generation of integration-free human iPSC line LCPHi001-A from a Parkinson's disease patient carrying the RecNciI mutation in GBA gene. Stem Cell Research. 56: 102514. PMID 34464855 DOI: 10.1016/j.scr.2021.102514   
2021 Zhao H, Zhang Q, Chen H, Rezanur Rahman M, Md Faruquee H. Integrated multi-omics approach identified molecular mechanism and pathogenetic processes of COVID-19 that affect patient with Parkinson's disorder. Saudi Journal of Biological Sciences. PMID 34366686 DOI: 10.1016/j.sjbs.2021.07.074   
2021 Olsen AL, Feany MB. Parkinson's disease risk genes act in glia to control neuronal α-synuclein toxicity. Neurobiology of Disease. 159: 105482. PMID 34390834 DOI: 10.1016/j.nbd.2021.105482   
2021 Kim S, Shin JY, Kwon NJ, Kim CU, Kim C, Lee CS, Seo JS. Evaluation of low-pass genome sequencing in polygenic risk score calculation for Parkinson's disease. Human Genomics. 15: 58. PMID 34454617 DOI: 10.1186/s40246-021-00357-w   
2021 Omer N, Giladi N, Gurevich T, Bar-Shira A, Gana-Weisz M, Glinka T, Goldstein O, Kestenbaum M, Cedarbaum JM, Mabrouk OS, Fraser KB, Shirvan JC, Orr-Urtreger A, Mirelman A, Thaler A. Glucocerebrosidase Activity is not Associated with Parkinson's Disease Risk or Severity. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 34550621 DOI: 10.1002/mds.28792   
2021 Gu X, Hou Y, Chen Y, Ou R, Cao B, Wei Q, Zhang L, Song W, Zhao B, Wu Y, Li C, Shang H. Enrichment of rare variants in E3 ubiquitin ligase genes in Early onset Parkinson's disease. Neurobiology of Aging. PMID 34544586 DOI: 10.1016/j.neurobiolaging.2021.08.013   
2021 Song F, Owczarek-Lipska M, Ahmels T, Book M, Aisenbrey S, Menghini M, Barthelmes D, Schrader S, Spital G, Neidhardt J. High-Throughput Sequencing to Identify Mutations Associated with Retinal Dystrophies. Genes. 12. PMID 34440443 DOI: 10.3390/genes12081269   
2021 Castelo Rueda MP, Raftopoulou A, Gögele M, Borsche M, Emmert D, Fuchsberger C, Hantikainen EM, Vukovic V, Klein C, Pramstaller PP, Pichler I, Hicks AA. Frequency of Heterozygous Parkin () Variants and Penetrance of Parkinson's Disease Risk Markers in the Population-Based CHRIS Cohort. Frontiers in Neurology. 12: 706145. PMID 34434164 DOI: 10.3389/fneur.2021.706145   
2021 König E, Nicoletti A, Pattaro C, Annesi G, Melotti R, Gialluisi A, Schwienbacher C, Picard A, Blankenburg H, Pichler I, Modugno N, Ciullo M, Esposito T, Domingues FS, Hicks AA, et al. Exome-wide association study of levodopa-induced dyskinesia in Parkinson's disease. Scientific Reports. 11: 19582. PMID 34599261 DOI: 10.1038/s41598-021-99393-8   
2021 Brendza R, Lin H, Stark K, Foreman O, Tao J, Pierce A, Ngu H, Shen K, Easton AE, Bhangale T, Chang D, Bingol B, Friedman BA. Genetic ablation of Gpnmb does not alter synuclein-related pathology. Neurobiology of Disease. 105494. PMID 34464706 DOI: 10.1016/j.nbd.2021.105494   
2021 Kinoshita S, Ando M, Ando J, Ishii M, Furukawa Y, Tomita O, Azusawa Y, Shirane S, Kishita Y, Yatsuka Y, Eguchi H, Okazaki Y, Komatsu N. Trigenic // mutations in myelodysplasia with Usher syndrome. Heliyon. 7: e07804. PMID 34458631 DOI: 10.1016/j.heliyon.2021.e07804   
2021 Yeh TH, Liu HF, Chiu CC, Cheng ML, Huang GJ, Huang YC, Liu YC, Huang YZ, Lu CS, Chen YC, Chen HY, Cheng YC. PLA2G6 mutations cause motor dysfunction phenotypes of young-onset dystonia-parkinsonism type 14 and can be relieved by DHA treatment in animal models. Experimental Neurology. 113863. PMID 34520727 DOI: 10.1016/j.expneurol.2021.113863   
2021 Jiang X, Chen M, Song W, Lin GN. Label propagation-based semi-supervised feature selection on decoding clinical phenotypes with RNA-seq data. Bmc Medical Genomics. 14: 141. PMID 34465339 DOI: 10.1186/s12920-021-00985-0   
2021 Feliciano CM, Wu K, Watry HL, Marley CBE, Ramadoss GN, Ghanim HY, Liu AZ, Zholudeva LV, McDevitt TC, Saporta MA, Conklin BR, Judge LM. Allele-Specific Gene Editing Rescues Pathology in a Human Model of Charcot-Marie-Tooth Disease Type 2E. Frontiers in Cell and Developmental Biology. 9: 723023. PMID 34485306 DOI: 10.3389/fcell.2021.723023   
2021 Chen ZR, Bao MH, Wang XY, Yang YM, Huang B, Han ZL, Cai J, Fan XH. Genetic variants in Chinese patients with sporadic Stanford type A aortic dissection. Journal of Thoracic Disease. 13: 4008-4022. PMID 34422331 DOI: 10.21037/jtd-20-2758   
2021 Stoker TB, Mason SL, Greenland JC, Holden ST, Santini H, Barker RA. Huntington's disease: diagnosis and management. Practical Neurology. PMID 34413240 DOI: 10.1136/practneurol-2021-003074   
2021 Ding J, Frantzeskos A, Orozco G. Functional interrogation of autoimmune disease genetics using CRISPR/Cas9 technologies and massively parallel reporter assays. Seminars in Immunopathology. PMID 34508276 DOI: 10.1007/s00281-021-00887-4   
2021 Müller U. Spinocerebellar ataxias (SCAs) caused by common mutations. Neurogenetics. PMID 34401960 DOI: 10.1007/s10048-021-00662-5   
2021 Chen Y, Yu X, Kong J. Identification of Neuropeptides as Potential Crosstalks Linking Down Syndrome and Periodontitis Revealed by Transcriptomic Analyses. Disease Markers. 2021: 7331821. PMID 34545294 DOI: 10.1155/2021/7331821   
2021 Sánchez-Rodríguez A, Martínez-Rodríguez I, Sánchez-Juan P, Sierra M, González-Aramburu I, Rivera-Sánchez M, Andrés-Pacheco J, Gutierrez-González Á, García-Hernández A, Madera J, Delgado-Alvarado M, Infante J. Serial DaT-SPECT imaging in asymptomatic carriers of LRRK2 G2019S mutation: 8-years follow-up. European Journal of Neurology. PMID 34407293 DOI: 10.1111/ene.15070   
2021 Chiereghin C, Travaglino E, Zampini M, Saba E, Saitta C, Riva E, Bersanelli M, Della Porta MG. The Genetics of Myelodysplastic Syndromes: Clinical Relevance. Genes. 12. PMID 34440317 DOI: 10.3390/genes12081144   
2021 Axente M, Shelby ES, Mirea A, Sporea C, Badina M, Padure L, Ion DA. Clinical features and genetics in non-5q spinal muscular atrophy caused by acid ceramidase deficiency. Journal of Medicine and Life. 14: 424-428. PMID 34377212 DOI: 10.25122/jml-2021-0147   
2021 Escott-Price V, Schmidt KM. Probability of Alzheimer's disease based on common and rare genetic variants. Alzheimer's Research & Therapy. 13: 140. PMID 34404470 DOI: 10.1186/s13195-021-00884-7   
2021 West RR, Calvo KR, Embree LJ, Wang W, Tuschong LM, Bauer TR, Tillo D, Lack J, Droll S, Hsu AP, Holland SM, Hickstein DD. ASXL1 and STAG2 are Common Mutations in GATA2 Deficiency Patients with Bone Marrow Disease and Myelodysplastic Syndrome. Blood Advances. PMID 34529785 DOI: 10.1182/bloodadvances.2021005065   
2021 Li Y, Lu X, Zhang J, Liu Q, Zhou D, Deng X, Qiu Y, Chen Q, Li M, Yang G, Zheng H, Dai J. Significance of Parkinson Family Genes in the Prognosis and Treatment Outcome Prediction for Lung Adenocarcinoma. Frontiers in Molecular Biosciences. 8: 735263. PMID 34616772 DOI: 10.3389/fmolb.2021.735263   
2021 Huang YH, Chen CW, Sundaramurthy V, Slabicki M, Hao D, Watson CJ, Tovy A, Reyes JM, Dakhova O, Crovetti BR, Galonska C, Lee M, Brunetti L, Zhou Y, Tatton-Brown K, et al. Systematic profiling of DNMT3A variants reveals protein instability mediated by the DCAF8 E3 ubiquitin ligase adaptor. Cancer Discovery. PMID 34429321 DOI: 10.1158/2159-8290.CD-21-0560   
2021 Arendt M, Ambrosen A, Fall T, Kierczak M, Tengvall K, Meadows JRS, Karlsson Å, Lagerstedt AS, Bergström T, Andersson G, Lindblad-Toh K, Hagman R. The ABCC4 gene is associated with pyometra in golden retriever dogs. Scientific Reports. 11: 16647. PMID 34404837 DOI: 10.1038/s41598-021-95936-1   
2021 Lin F, Lin W, Zhu C, Lin J, Zhu J, Li XY, Wang Z, Wang C, Huang H. Sequencing of neurofilament genes identified NEFH Ser787Arg as a novel risk variant of sporadic amyotrophic lateral sclerosis in Chinese subjects. Bmc Medical Genomics. 14: 222. PMID 34511133 DOI: 10.1186/s12920-021-01073-z   
2021 Jiang X, Pan W, Chen M, Wang W, Song W, Lin GN. Integrative enrichment analysis of gene expression based on an artificial neuron. Bmc Medical Genomics. 14: 173. PMID 34433483 DOI: 10.1186/s12920-021-00988-x   
2021 Nowomiejska K, Nasser F, Stingl K, Schimpf-Linzenbold S, Biskup S, Brzozowska A, Rejdak R, Kohl S, Zrenner E. Disease expression caused by different variants in the BEST1 gene: genotype and phenotype findings in bestrophinopathies. Acta Ophthalmologica. PMID 34327816 DOI: 10.1111/aos.14958   
2021 Judd J, Abdel Karim N, Khan H, Naqash AR, Baca Y, Xiu J, VanderWalde AM, Mamdani H, Raez LE, Nagasaka M, Pai SG, Socinski M, Nieva JJ, Kim C, Wozniak AJ, et al. Characterization of KRAS Mutation Subtypes in Non-Small Cell Lung Cancer. Molecular Cancer Therapeutics. PMID 34518295 DOI: 10.1158/1535-7163.MCT-21-0201   
2021 Cai S, Zhang D, Jiao X, Wang T, Fan M, Wang Y, Hejtmancik JF, Liu X. Novel compound heterozygous mutations in identified in a Chinese family with developmental glaucoma. Molecular Medicine Reports. 24. PMID 34528698 DOI: 10.3892/mmr.2021.12443   
2021 van Eyk CL, Webber DL, Minoche AE, Pérez-Jurado LA, Corbett MA, Gardner AE, Berry JG, Harper K, MacLennan AH, Gecz J. Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing. Npj Genomic Medicine. 6: 74. PMID 34531397 DOI: 10.1038/s41525-021-00238-0   
2021 Arango D, Bittar A, Esmeral NP, Ocasión C, Muñoz-Camargo C, Cruz JC, Reyes LH, Bloch NI. Understanding the Potential of Genome Editing in Parkinson's Disease. International Journal of Molecular Sciences. 22. PMID 34502143 DOI: 10.3390/ijms22179241   
2021 Balck A, Schaake S, Kuhnke NS, Domingo A, Madoev H, Margolesky J, Dobricic V, Alvarez-Fischer D, Laabs BH, Kasten M, Luo W, Nicolas G, Marras C, Lohmann K, Klein C, et al. Genotype-Phenotype Relations in Primary Familial Brain Calcification: Systematic MDSGene Review. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 34432325 DOI: 10.1002/mds.28753   
2021 Ganesh A, Sivakumar S, Manokaran R, Narasimhan U. Atypical presentation of rapid-onset dystonia-parkinsonism in a toddler with a novel mutation in the ATP1A3 gene. Bmj Case Reports. 14. PMID 34413044 DOI: 10.1136/bcr-2021-244152