Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 1219 Records) |
Query Trace: Whole genome sequencing[original query] |
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A Novel Germline Mutation of BRCA1 and Integrated Analysis With Somatic Mutation in a Chinese Multi-Cancer Family. The oncologist 2023 12 . Xiling Yang, Li Shang, Liren Yang, Landi Sun, Xiaoqian Tuo, Sijia Ma, Le Zhao, Xu Li, Wenfang Ya |
C9orf72 Repeat Expansion Discordance in 6 Multigenerational Kindreds. Neurology. Genetics 2023 12 10 (1): e200112. Marie Ryan, Mark A Doherty, Ahmad Al Khleifat, Emmet Costello, Jennifer C Hengeveld, Mark Heverin, Ammar Al-Chalabi, Russell L Mclaughlin, Orla Hardim |
Pharmacogenomic Considerations for Anticoagulant Prescription in Patients with Hereditary Haemorrhagic Telangiectasia. Journal of clinical medicine 2023 12 12 (24): . Sarah C McCarley, Daniel A Murphy, Jack Thompson, Claire L Shovl |
Telomere Maintenance Mechanisms in a Cohort of High-Risk Neuroblastoma Tumors and Its Relation to Genomic Variants in the TERT and ATRX Genes. Cancers 2023 12 15 (24): . Anna Djos, Ketan Thombare, Roshan Vaid, Jennie Gaarder, Ganesh Umapathy, Susanne E Reinsbach, Kleopatra Georgantzi, Jakob Stenman, Helena Carén, Torben Ek, Tanmoy Mondal, Per Kogner, Tommy Martinsson, Susanne Franss |
Role of polygenic risk scores in the association between chronotype and health risk behaviors. BMC psychiatry 2023 12 23 (1): 955. Yi Zhang, Shuqin Li, Yang Xie, Wan Xiao, Huiqiong Xu, Zhengge Jin, Ruoyu Li, Yuhui Wan, Fangbiao T |
Exploring quantitative traits-associated copy number deletions through reanalysis of UK10K consortium whole genome sequencing cohorts. BMC genomics 2023 12 24 (1): 787. Sejoon Lee, Jinho Kim, Jung Hun O |
Combining genomic biomarkers to guide immunotherapy in non-small cell lung cancer. Clinical cancer research : an official journal of the American Association for Cancer Research 2024 2 . Joris van de Haar, Joanne M Mankor, Karlijn Hummelink, Kim Monkhorst, Egbert F Smit, Lodewyk F A Wessels, Edwin Cuppen, Joachim G J V Aerts, Emile E Voe |
Genome-wide association studies identify novel loci in rapidly progressive Alzheimer's disease. Alzheimer's & dementia : the journal of the Alzheimer's Association 2024 1 . Ping Wang, Audrey Lynn, Kristy Miskimen, Yeunjoo E Song, Thomas Wisniewski, Mark Cohen, Brian S Appleby, Jiri G Safar, Jonathan L Hain |
Mutational signature and prognosis in adenocarcinoma of the bladder. The Journal of pathology 2024 1 . Guoliang Yang, Akezhouli Shahatiaili, Shihao Bai, Liyang Wang, Di Jin, Ming Cao, Peipei Su, Qiang Liu, Kun Tao, Qi Long, Yi Shi, Jing Xiao, Futong Tian, Lianhua Zhang, Haige Chen, Xianbin |
Genetic factors associated with suicidal behaviors and alcohol use disorders in an American Indian population. Molecular psychiatry 2024 1 . Qian Peng, David A Gilder, Rebecca A Bernert, Katherine J Karriker-Jaffe, Cindy L Ehle |
Defining the role of extrachromosomal DNA amplifications in medulloblastoma. Cancer research 2024 1 . Dacheng Zhao, Roel G W Verha |
Spatial architectures of somatic mutations in normal prostate, benign prostatic hyperplasia and coexisting prostate cancer. Experimental & molecular medicine 2024 1 . Jeesoo Chae, Seung-Hyun Jung, Eun Ji Choi, Jae Woong Kim, Na Yung Kim, Sung Won Moon, Ji Youl Lee, Yeun-Jun Chung, Sug Hyung L |
Genomic analysis identifies risk factors in restless legs syndrome. medRxiv : the preprint server for health sciences 2024 1 . Fulya Akçimen, Ruth Chia, Sara Saez-Atienzar, Paola Ruffo, Memoona Rasheed, Jay P Ross, Calwing Liao, Anindita Ray, Patrick A Dion, Sonja W Scholz, Guy A Rouleau, Bryan J Trayn |
The HLA-DRB1*09:01-DQB1*03:03 haplotype is associated with the risk for late-onset Alzheimer's disease in APOE [Formula: see text]4-negative Japanese adults. npj aging 2024 1 10 (1): 3. Daichi Shigemizu, Koya Fukunaga, Akiko Yamakawa, Mutsumi Suganuma, Kosuke Fujita, Tetsuaki Kimura, Ken Watanabe, Taisei Mushiroda, Takashi Sakurai, Shumpei Niida, Kouichi Oza |
Rare genetic variation in Fibronectin 1 ( FN1 ) protects against APOEe4 in Alzheimer's disease. bioRxiv : the preprint server for biology 2024 1 . Prabesh Bhattarai, Tamil Iniyan Gunasekaran, Dolly Reyes-Dumeyer, Dörthe Jülich, Hüseyin Tayran, Elanur Yilmaz, Delaney Flaherty, Rafael Lantigua, Martin Medrano, Diones Rivera, Patricia Recio, Nilüfer Ertekin-Taner, Andrew F Teich, Dennis W Dickson, Scott Holley, Richard Mayeux, Caghan Kizil, Badri N Vardaraj |
Association analysis of mitochondrial DNA heteroplasmic variants: methods and application. medRxiv : the preprint server for health sciences 2024 1 . Xianbang Sun, Katia Bulekova, Jian Yang, Meng Lai, Achilleas N Pitsillides, Xue Liu, Yuankai Zhang, Xiuqing Guo, Qian Yong, Laura M Raffield, Jerome I Rotter, Stephen S Rich, Goncalo Abecasis, April P Carson, Ramachandran S Vasan, Joshua C Bis, Bruce M Psaty, Eric Boerwinkle, Annette L Fitzpatrick, Claudia L Satizabal, Dan E Arking, Jun Ding, Daniel Levy, , Chunyu L |
Pharmacogenomics of intravenous immunoglobulin response in Kawasaki disease. Frontiers in immunology 2024 1 14 1287094. Sadeep Shrestha, Howard W Wiener, Hidemi Kajimoto, Vinodh Srinivasasainagendra, Dolena Ledee, Sabrina Chowdhury, Jinhong Cui, Jake Y Chen, Mikayla A Beckley, Luz A Padilla, Nagib Dahdah, Hemant K Tiwari, Michael A Portm |
Reanalysis of Trio Whole-Genome Sequencing Data Doubles the Yield in Autism Spectrum Disorder: De Novo Variants Present in Half. International journal of molecular sciences 2024 1 25 (2): . Omri Bar, Elizabeth Vahey, Mark Mintz, Richard E Frye, Richard G Bol |
MAPT Locus in Parkinson's Disease Patients of Ashkenazi Origin: A Stratified Analysis. Genes 2024 1 15 (1): . Shachar Shani, Mali Gana-Weisz, Anat Bar-Shira, Avner Thaler, Tanya Gurevich, Anat Mirelman, Nir Giladi, Roy N Alcalay, Orly Goldstein, Avi Orr-Urtreg |
Whole genome sequencing enables new genetic diagnosis for inherited retinal diseases by identifying pathogenic variants. NPJ genomic medicine 2024 1 9 (1): 6. Xubing Liu, Fangyuan Hu, Daowei Zhang, Zhe Li, Jianquan He, Shenghai Zhang, Zhenguo Wang, Yingke Zhao, Jiawen Wu, Chen Liu, Chenchen Li, Xin Li, Jihong |
Catechol-O-methyltransferase gene (COMT) is associated with neurocognitive functioning in patients with sickle cell disease. Current research in translational medicine 2024 1 72 (2): 103433. Andrew M Heitzer, Sara R Rashkin, Ana Trpchevska, Jennifer N Longoria, Evadnie Rampersaud, Yunusa Olufadi, Winfred C Wang, Darcy Raches, Brian Potter, Martin H Steinberg, Allison A King, Guolian Kang, Clifford M Takemoto, Jane S Hanki |
Genetic predisposition to differentiated thyroid cancer among Polish population. Polish archives of internal medicine 2024 1 . Martyna Borowczyk, Mateusz Sypniewski, Joanna Szyda, Ma?gorzata Braszka, Katarzyna Ziemnicka, Marek Rucha?a, Michalina Oszywa, Zbigniew J Król, Paula Dobo |
Enrichment of colibactin-associated mutational signatures in unexplained colorectal polyposis patients. BMC cancer 2024 1 24 (1): 104. Diantha Terlouw, Arnoud Boot, Quinten R Ducarmon, Sam Nooij, Manon Suerink, Monique E van Leerdam, Demi van Egmond, Carli M Tops, Romy D Zwittink, Dina Ruano, Alexandra M J Langers, Maartje Nielsen, Tom van Wezel, Hans Morre |
Discovery of genomic and transcriptomic pleiotropy between kidney function and soluble receptor for advanced glycation end-products using correlated meta-analyses: The Long Life Family Study (LLFS). medRxiv : the preprint server for health sciences 2024 1 . Mary F Feitosa, Shiow J Lin, Sandeep Acharya, Bharat Thyagarajan, Mary K Wojczynski, Allison L Kuipers, Alexander Kulminski, Kaare Christensen, Joseph M Zmuda, Michael R Brent, Michael A Provin |
Whole-Genome Sequencing Analysis Reveals New Susceptibility Loci and Structural Variants Associated with Progressive Supranuclear Palsy. medRxiv : the preprint server for health sciences 2024 1 . Hui Wang, Timothy S Chang, Beth A Dombroski, Po-Liang Cheng, Vishakha Patil, Leopoldo Valiente-Banuet, Kurt Farrell, Catriona Mclean, Laura Molina-Porcel, Alex Rajput, Peter Paul De Deyn, Nathalie Le Bastard, Marla Gearing, Laura Donker Kaat, John C Van Swieten, Elise Dopper, Bernardino F Ghetti, Kathy L Newell, Claire Troakes, Justo G de Yébenes, Alberto Rábano-Gutierrez, Tina Meller, Wolfgang H Oertel, Gesine Respondek, Thomas Arzberger, Sigrun Roeber, Pau Pastor, Alexis Brice, Alexandra Durr, Isabelle Le Ber, Thomas G Beach, Geidy E Serrano, Lili-Naz Hazrati, Irene Litvan, Rosa Rademakers, Owen A Ross, Douglas Galasko, Adam L Boxer, Bruce L Miller, Willian W Seeley, Vivanna M Van Deerlin, Charles L White, Huw Morris, Rohan de Silva, John F Crary, Alison M Goate, Jeffrey S Friedman, Yuk Yee Leung, Giovanni Coppola, Adam C Naj, Li-San Wang, Dennis W Dickson, Günter U Höglinger, Gerard D Schellenberg, Daniel H Geschwind, Wan-Ping L |
The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young. Genome medicine 2024 1 16 (1): 13. Megan J Puckelwartz, Lorenzo L Pesce, Edgar J Hernandez, Gregory Webster, Lisa M Dellefave-Castillo, Mark W Russell, Sarah S Geisler, Samuel D Kearns, Felix Karthik, Susan P Etheridge, Tanner O Monroe, Tess D Pottinger, Prince J Kannankeril, M Benjamin Shoemaker, Darlene Fountain, Dan M Roden, Meghan Faulkner, Heather M MacLeod, Kristin M Burns, Mark Yandell, Martin Tristani-Firouzi, Alfred L George, Elizabeth M McNal |
Analysis of 245,368 diverse individuals in NIH All of Us Program finds incomplete penetrance of VEXAS-defining UBA1 p.Met41Leu somatic variant. Arthritis & rheumatology (Hoboken, N.J.) 2024 1 . Robert W Corty, James Brogan, Kevin Byram, Jason Springer, Peter C Grayson, Alexander Bi |
A Functional Single-Nucleotide Polymorphism Upstream of the Collagen Type III Gene Is Associated with Catastrophic Fracture Risk in Thoroughbred Horses. Animals : an open access journal from MDPI 2024 1 14 (1): . Esther Palomino Lago, Arabella Baird, Sarah C Blott, Rhona E McPhail, Amy C Ross, Sian A Durward-Akhurst, Deborah J Gue |
A study of genetic variants associated with skin traits in the Vietnamese population. BMC genomics 2024 1 25 (1): 52. Tham Hong Hoang, Duc Minh Vu, Giang Minh Vu, Thien Khac Nguyen, Nguyet Minh Do, Vinh Chi Duong, Thang Luong Pham, Mai Hoang Tran, Ly Thi Khanh Nguyen, Han Thi Tuong Han, Thu-Thuy Can, Thai Hong Pham, Tho Duc Pham, Thanh Hong Nguyen, Huy Phuoc Do, Nam S Vo, Xuan-Hung Nguy |
A maternal germline mutator phenotype in a family affected by heritable colorectal cancer. medRxiv : the preprint server for health sciences 2024 1 . Candice L Young, Annabel C Beichman, David Mas-Ponte, Shelby L Hemker, Luke Zhu, Jacob O Kitzman, Brian Shirts, Kelley Harr |
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- Page last updated:Mar 25, 2024
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