Nancy J Butcher - Related publications

Affiliations: 
University of Toronto, Toronto, ON, Canada 
Area:
Neuroscience
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50 most relevant papers in past 60 days:
Year Citation  Score
2021 Gass N, Peterson Z, Reinwald J, Sartorius A, Weber-Fahr W, Sack M, Chen J, Cao H, Didriksen M, Stensbøl TB, Klemme G, Schwarz AJ, Schwarz E, Meyer-Lindenberg A, Nickl-Jockschat T. Differential resting-state patterns across networks are spatially associated with Comt and Trmt2a gene expression patterns in a mouse model of 22q11.2 deletion. Neuroimage. 118520. PMID 34455061 DOI: 10.1016/j.neuroimage.2021.118520   
2021 Medico-Salsench E, Karkala F, Lanko K, Barakat TS. The non-coding genome in genetic brain disorders: new targets for therapy? Essays in Biochemistry. PMID 34414418 DOI: 10.1042/EBC20200121   
2021 Gui Y, Grzyb K, Thomas MH, Ohnmacht J, Garcia P, Buttini M, Skupin A, Sauter T, Sinkkonen L. Single-nuclei chromatin profiling of ventral midbrain reveals cell identity transcription factors and cell-type-specific gene regulatory variation. Epigenetics & Chromatin. 14: 43. PMID 34503558 DOI: 10.1186/s13072-021-00418-3   
2021 Li X, Pan X, Zhou H, Wang P, Gao Y, Shang S, Guo S, Sun J, Xiong Z, Ning S, Zhi H, Li X. Comprehensive characterization genetic regulation and chromatin landscape of enhancer-associated long non-coding RNAs and their implication in human cancer. Briefings in Bioinformatics. PMID 34581409 DOI: 10.1093/bib/bbab401   
2021 Benke TA, Park K, Krey I, Camp CR, Song R, Ramsey AJ, Yuan H, Traynelis SF, Lemke J. Clinical and therapeutic significance of genetic variation in the GRIN gene family encoding NMDARs. Neuropharmacology. 108805. PMID 34560056 DOI: 10.1016/j.neuropharm.2021.108805   
2021 Modenato C, Martin-Brevet S, Moreau CA, Rodriguez-Herreros B, Kumar K, Draganski B, Sønderby IE, Jacquemont S. Lessons Learned From Neuroimaging Studies of Copy Number Variants: A Systematic Review. Biological Psychiatry. PMID 34509290 DOI: 10.1016/j.biopsych.2021.05.028   
2021 Pineda-Cirera L, Cabana-Domínguez J, Lee PH, Fernàndez-Castillo N, Cormand B. Identification of genetic variants influencing methylation in brain with pleiotropic effects on psychiatric disorders. Progress in Neuro-Psychopharmacology & Biological Psychiatry. 110454. PMID 34637873 DOI: 10.1016/j.pnpbp.2021.110454   
2021 Mo A, Nagpal S, Gettler K, Haritunians T, Giri M, Haberman Y, Karns R, Prince J, Arafat D, Hsu NY, Chuang LS, Argmann C, Kasarskis A, Suarez-Farinas M, Gotman N, et al. Stratification of risk of progression to colectomy in ulcerative colitis via measured and predicted gene expression. American Journal of Human Genetics. PMID 34450030 DOI: 10.1016/j.ajhg.2021.07.013   
2021 Lin Z, Long Y, Wu Z, Xiang Z, Ju Y, Liu Z. Associations between brain abnormalities and common genetic variants for schizophrenia: a narrative review of structural and functional neuroimaging findings. Annals of Palliative Medicine. PMID 34412503 DOI: 10.21037/apm-21-1210   
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 Aygün N, Elwell AL, Liang D, Lafferty MJ, Cheek KE, Courtney KP, Mory J, Hadden-Ford E, Krupa O, de la Torre-Ubieta L, Geschwind DH, Love MI, Stein JL. Brain-trait-associated variants impact cell-type-specific gene regulation during neurogenesis. American Journal of Human Genetics. PMID 34416157 DOI: 10.1016/j.ajhg.2021.07.011   
2021 Hasan MA, Hakim FT, Islam Shovon MT, Islam MM, Islam MS, Islam MA. The investigation of nonsynonymous SNPs of human gene associated with depression: An approach. Heliyon. 7: e07815. PMID 34466701 DOI: 10.1016/j.heliyon.2021.e07815   
2021 Koch PJ, Koster MI. Rare Genetic Disorders: Novel Treatment Strategies and Insights Into Human Biology. Frontiers in Genetics. 12: 714764. PMID 34422015 DOI: 10.3389/fgene.2021.714764   
2021 Galatolo D, De Michele G, Silvestri G, Leuzzi V, Casali C, Musumeci O, Antenora A, Astrea G, Barghigiani M, Battini R, Battisti C, Caputi C, Cioffi E, De Michele G, Dotti MT, et al. NGS in Hereditary Ataxia: When Rare Becomes Frequent. International Journal of Molecular Sciences. 22. PMID 34445196 DOI: 10.3390/ijms22168490   
2021 Barowsky S, Jung JY, Nesbit N, Silberstein M, Fava M, Loggia ML, Smoller JW, Lee PH. Cross-Disorder Genomics Data Analysis Elucidates a Shared Genetic Basis Between Major Depression and Osteoarthritis Pain. Frontiers in Genetics. 12: 687687. PMID 34603368 DOI: 10.3389/fgene.2021.687687   
2021 Dingemans AJM, Truijen KMG, Kim JH, Alaçam Z, Faivre L, Collins KM, Gerkes EH, van Haelst M, van de Laar IMBH, Lindstrom K, Nizon M, Pauling J, Heropolitańska-Pliszka E, Plomp AS, Racine C, et al. Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON. European Journal of Human Genetics : Ejhg. PMID 34521999 DOI: 10.1038/s41431-021-00960-4   
2021 Zhan L, Li J, Jew B, Sul JH. Rare variants in the endocytic pathway are associated with Alzheimer's disease, its related phenotypes, and functional consequences. Plos Genetics. 17: e1009772. PMID 34516545 DOI: 10.1371/journal.pgen.1009772   
2021 Akhtari FS, Green AJ, Small GW, Havener TM, House JS, Roell KR, Reif DM, McLeod HL, Wiltshire T, Motsinger-Reif AA. High-throughput screening and genome-wide analyses of 44 anticancer drugs in the 1000 Genomes cell lines reveals an association of the NQO1 gene with the response of multiple anticancer drugs. Plos Genetics. 17: e1009732. PMID 34437536 DOI: 10.1371/journal.pgen.1009732   
2021 Kessler T, Schunkert H. Coronary Artery Disease Genetics Enlightened by Genome-Wide Association Studies. Jacc. Basic to Translational Science. 6: 610-623. PMID 34368511 DOI: 10.1016/j.jacbts.2021.04.001   
2021 Perzel Mandell KA, Eagles NJ, Wilton R, Price AJ, Semick SA, Collado-Torres L, Ulrich WS, Tao R, Han S, Szalay AS, Hyde TM, Kleinman JE, Weinberger DR, Jaffe AE. Genome-wide sequencing-based identification of methylation quantitative trait loci and their role in schizophrenia risk. Nature Communications. 12: 5251. PMID 34475392 DOI: 10.1038/s41467-021-25517-3   
2021 Al-Khuzaei S, Broadgate S, Foster CR, Shah M, Yu J, Downes SM, Halford S. An Overview of the Genetics of Retinopathies, an Evolving Story. Genes. 12. PMID 34440414 DOI: 10.3390/genes12081241   
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 Chen J, Ali MW, Yan L, Dighe SG, Dai JY, Vaughan TL, Casey G, Buas MF. Prioritization and functional analysis of GWAS risk loci for Barrett's esophagus and esophageal adenocarcinoma. Human Molecular Genetics. PMID 34505128 DOI: 10.1093/hmg/ddab259   
2021 Maroofian R, Gubas A, Kaiyrzhanov R, Scala M, Hundallah K, Severino M, Abdel-Hamid MS, Rosenfeld JA, Ebrahimi-Fakhari D, Ali Z, Rahim F, Houlden H, Tooze SA, Alsaleh NS, Zaki MS. Homozygous missense variants cause a congenital disorder of autophagy with neurodevelopmental impairments of variable clinical severity and disease course. Brain Communications. 3: fcab183. PMID 34557665 DOI: 10.1093/braincomms/fcab183   
2021 Joslin AC, Sobreira DR, Hansen GT, Sakabe NJ, Aneas I, Montefiori LE, Farris KM, Gu J, Lehman DM, Ober C, He X, Nóbrega MA. A functional genomics pipeline identifies pleiotropy and cross-tissue effects within obesity-associated GWAS loci. Nature Communications. 12: 5253. PMID 34489471 DOI: 10.1038/s41467-021-25614-3   
2021 Tian P, Zhong M, Wei GH. Mechanistic insights into genetic susceptibility to prostate cancer. Cancer Letters. 522: 155-163. PMID 34560228 DOI: 10.1016/j.canlet.2021.09.025   
2021 Zhu J, Yang Y, Kisiel JB, Mahoney DW, Michaud DS, Guo X, Taylor WR, Shu XO, Shu X, Liu D, Li B, Tao R, Cai Q, Zheng W, Long J, et al. Integrating genome and methylome data to identify candidate DNA methylation biomarkers for pancreatic cancer risk. Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association For Cancer Research, Cosponsored by the American Society of Preventive Oncology. PMID 34497089 DOI: 10.1158/1055-9965.EPI-21-0400   
2021 Guerrini R, Balestrini S, Wirrell EC, Walker MC. Monogenic Epilepsies: Disease Mechanisms, Clinical Phenotypes, and Targeted Therapies. Neurology. PMID 34493617 DOI: 10.1212/WNL.0000000000012744   
2021 de Jorge Martínez C, Rukh G, Williams MJ, Gaudio S, Brooks S, Schiöth HB. Genetics of anorexia nervosa: an overview of genome-wide association studies and emerging biological links. Journal of Genetics and Genomics = Yi Chuan Xue Bao. PMID 34634498 DOI: 10.1016/j.jgg.2021.09.005   
2021 Levy T, Foss-Feig JH, Betancur C, Siper PM, Pilar Trelles-Thorne M, Halpern D, Frank Y, Lozano R, Layton C, Britvan B, Bernstein JA, Buxbaum JD, Berry-Kravis E, Powell CM, Srivastava S, ... , et al. Strong evidence for genotype-phenotype correlations in Phelan-McDermid syndrome: Results from the developmental Synaptopathies consortium. Human Molecular Genetics. PMID 34559195 DOI: 10.1093/hmg/ddab280   
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 Choi J, Bodenstein DF, Geraci J, Andreazza AC. Evaluation of postmortem microarray data in bipolar disorder using traditional data comparison and artificial intelligence reveals novel gene targets. Journal of Psychiatric Research. 142: 328-336. PMID 34419753 DOI: 10.1016/j.jpsychires.2021.08.011   
2021 Ghirardini E, Calugi F, Sagona G, Di Vetta F, Palma M, Battini R, Cioni G, Pizzorusso T, Baroncelli L. The Role of Preclinical Models in Creatine Transporter Deficiency: Neurobiological Mechanisms, Biomarkers and Therapeutic Development. Genes. 12. PMID 34440297 DOI: 10.3390/genes12081123   
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 Ferreira de Araújo JL, Menezes D, Saraiva-Duarte JM, de Lima Ferreira L, Santana de Aguiar R, Pedra de Souza R. Systematic review of host genetic association with Covid-19 prognosis and susceptibility: What have we learned in 2020? Reviews in Medical Virology. e2283. PMID 34338380 DOI: 10.1002/rmv.2283   
2021 Frederiksen JH, Jensen SB, Tümer Z, Hansen TVO. Classification of MSH6 Variants of Uncertain Significance Using Functional Assays. International Journal of Molecular Sciences. 22. PMID 34445333 DOI: 10.3390/ijms22168627   
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 Rubinstein CD, McLean DT, Lehman BP, Meudt JJ, Schomberg DT, Krentz KJ, Reichert JL, Meyer MB, Adams M, Konsitzke CM, Shanmuganayagam D. Assessment of Mosaicism and Detection of Cryptic Alleles in CRISPR/Cas9-Engineered Neurofibromatosis Type 1 and Mutant Porcine Models Reveals Overlooked Challenges in Precision Modeling of Human Diseases. Frontiers in Genetics. 12: 721045. PMID 34630515 DOI: 10.3389/fgene.2021.721045   
2021 van der Lee M, Allard WG, Vossen RHAM, Baak-Pablo RF, Menafra R, Deiman BALM, Deenen MJ, Neven P, Johansson I, Gastaldello S, Ingelman-Sundberg M, Guchelaar HJ, Swen JJ, Anvar SY. Toward predicting CYP2D6-mediated variable drug response from gene sequencing data. Science Translational Medicine. 13. PMID 34290055 DOI: 10.1126/scitranslmed.abf3637   
2021 Chung HC, Keiller DR, Roberts JD, Gordon DA. Do exercise-associated genes explain phenotypic variance in the three components of fitness? a systematic review & meta-analysis. Plos One. 16: e0249501. PMID 34648504 DOI: 10.1371/journal.pone.0249501   
2021 Wang T, Lu H, Zeng P. Identifying pleiotropic genes for complex phenotypes with summary statistics from a perspective of composite null hypothesis testing. Briefings in Bioinformatics. PMID 34571531 DOI: 10.1093/bib/bbab389   
2021 Zhu H, Zheng F, Li L, Jin Y, Luo Y, Li Z, Zeng J, Tang L, Li Z, Xia N, Liu P, Han D, Shan Y, Zhu X, Liu S, et al. A Chinese host genetic study discovered IFNs and causality of laboratory traits on COVID-19 severity. Iscience. 103186. PMID 34608450 DOI: 10.1016/j.isci.2021.103186   
2021 Rooney K, Levy MA, Haghshenas S, Kerkhof J, Rogaia D, Tedesco MG, Imperatore V, Mencarelli A, Squeo GM, Di Venere E, Di Cara G, Verrotti A, Merla G, Tedder ML, DuPont BR, et al. Identification of a DNA Methylation Episignature in the 22q11.2 Deletion Syndrome. International Journal of Molecular Sciences. 22. PMID 34445317 DOI: 10.3390/ijms22168611   
2021 Richter GM, Wagner G, Reichenmiller K, Staufenbiel I, Martins O, Löscher BS, Holtgrewe M, Jepsen S, Dommisch H, Schaefer AS. Exome Sequencing of 5 Families with Severe Early-Onset Periodontitis. Journal of Dental Research. 220345211029266. PMID 34515563 DOI: 10.1177/00220345211029266   
2021 Fan Y, Gao Z, Li X, Wei S, Yuan K. Gene expression and prognosis of x-ray repair cross-complementing family members in non-small cell lung cancer. Bioengineered. 12: 6210-6228. PMID 34486486 DOI: 10.1080/21655979.2021.1964193   
2021 Kim SS, Hudgins AD, Yang J, Zhu Y, Tu Z, Rosenfeld MG, DiLorenzo TP, Suh Y. A comprehensive integrated post-GWAS analysis of Type 1 diabetes reveals enhancer-based immune dysregulation. Plos One. 16: e0257265. PMID 34529725 DOI: 10.1371/journal.pone.0257265   
2021 Hai Q, Smith JD. Acyl-Coenzyme A: Cholesterol Acyltransferase (ACAT) in Cholesterol Metabolism: From Its Discovery to Clinical Trials and the Genomics Era. Metabolites. 11. PMID 34436484 DOI: 10.3390/metabo11080543   
2021 Mendonça MS, Mangiavacchi PM, Rios ÁFL. Regulatory functions of FKBP5 intronic regions associated with psychiatric disorders. Journal of Psychiatric Research. 143: 1-8. PMID 34433110 DOI: 10.1016/j.jpsychires.2021.08.014   
2021 Verma A, Tsao NL, Thomann L, Ho YL, Iyengar SK, Luoh SW, Carr R, Crawford D, Efird JT, Huffman J, Hung A, Ivey KL, Levin M, Lynch J, Natarajan P, ... , et al. A Phenome-Wide Association Study of genes associated with COVID-19 severity reveals shared genetics with complex diseases in the Million Veteran Program. Medrxiv : the Preprint Server For Health Sciences. PMID 34642702 DOI: 10.1101/2021.05.18.21257396   
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