Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 1392 Records) |
Query Trace: Whole genome sequencing[original query] |
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Association between NF-E2-related factor 2 polymorphism and age-related hearing loss in the general Japanese population from the Iwaki health promotion project. Acta oto-laryngologica 2024 12 1-7. Takashi Kasai, Akira Sasaki, Shuya Kasai, Shiori Miura, Shinichi Goto, Ryoko Yotsuyanagi, Tatsuya Mikami, Yoshinori Tamada, Ken Itoh, Atsushi Matsuba |
Systematic identification of pathogenic variants of non-small cell lung cancer in the promoters of DNA-damage repair genes. EBioMedicine 2024 12 110 105480. Mingxing An, Congcong Chen, Jun Xiang, Yang Li, Pinyu Qiu, Yiru Tang, Xinyue Liu, Yayun Gu, Na Qin, Yuanlin He, Meng Zhu, Yue Jiang, Juncheng Dai, Guangfu Jin, Hongxia Ma, Cheng Wang, Zhibin Hu, Hongbing Sh |
Associations between ABO, FUT2 and chronic pancreatitis: A comprehensive meta-analysis of multiple cohorts and public biobanks. Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] 2024 12 . Zeng-Kan Du, Yuan-Chen Wang, Ya-Hui Wang, Xiao-Yu Li, Yi-Zhou Zheng, Di Wu, Wei-Ming Qu, Zhuan Liao, Wen-Bin Z |
Pharmacogenomic landscape of the Thai population from genome sequencing of 949 individuals. Scientific reports 2024 12 14 (1): 30683. Jittima Piriyapongsa, Supatat Chumnumwat, Pavita Kaewprommal, Kwankom Triparn, Supharat Suvichapanich, Wanvisa Udomsinprasert, Jiraphun Jittikoon, Philip J Shaw, Vorthunju Nakhonsri, Chumpol Ngamphiw, Pongsakorn Wangkumhang, Manop Pithukpakorn, Ekkapong Roothumnong, Supakit Wiboonthanasarn, Chulaluck Kuptanon, Natini Jinawath, Thantrira Porntaveetus, Prapat Suriyaphol, Vip Viprakasit, Prapaporn Pisitkun, Piranit Kantaputra, Thipwimol Tim-Aroon, Duangrurdee Wattanasirichaigoon, Thanyachai Sura, Kanya Suphapeetiporn, Orapan Sripichai, Apichai Khongphatthanayothin, Suthat Fucharoen, Nuttapong Ngamphaiboon, Vorasuk Shotelersuk, Surakameth Mahasirimongkol, Sissades Tongsi |
Longitudinal glioma monitoring via cerebrospinal fluid cell-free DNA. Clinical cancer research : an official journal of the American Association for Cancer Research 2024 12 . Cecile Riviere-Cazaux, Xiaoxi Dong, Wei Mo, Rahul Kumar, Chao Dai, Lucas P Carlstrom, Amanda Munoz-Casabella, Keyvan Ghadimi, Cody L Nesvick, Katherine M Andersen, Matthew D Hoplin, Nicholas Canaday, Ignacio Jusue-Torres, Noor Malik, Jian L Campian, Michael W Ruff, Joon H Uhm, Jeanette E Eckel-Passow, Timothy J Kaufmann, David M Routman, Sani H Kizilbash, Ugur Sener, Arthur E Warrington, Robert B Jenkins, Pan Du, Shidong Jia, Terry C Bur |
Systematic assessment of COVID-19 host genetics using whole genome sequencing data. PLoS pathogens 2024 12 20 (12): e1012786. Axel Schmidt, Nicolas Casadei, Fabian Brand, German Demidov, Elaheh Vojgani, Ayda Abolhassani, Rana Aldisi, Guillaume Butler-Laporte, , T Madhusankha Alawathurage, Max Augustin, Robert Bals, Carla Bellinghausen, Marc Moritz Berger, Michael Bitzer, Christian Bode, Jannik Boos, Thorsten Brenner, Oliver A Cornely, Thomas Eggermann, Johanna Erber, Torsten Feldt, Christian Fuchsberger, Julien Gagneur, Siri Göpel, Tobias Haack, Helene Häberle, Frank Hanses, Julia Heggemann, Ute Hehr, Johannes C Hellmuth, Christian Herr, Anke Hinney, Per Hoffmann, Thomas Illig, Björn-Erik Ole Jensen, Verena Keitel, Sarah Kim-Hellmuth, Philipp Koehler, Ingo Kurth, Anna-Lisa Lanz, Eicke Latz, Clara Lehmann, Tom Luedde, Carlo Maj, Michael Mian, Abigail Miller, Maximilian Muenchhoff, Isabell Pink, Ulrike Protzer, Hana Rohn, Jan Rybniker, Federica Scaggiante, Anna Schaffeldt, Clemens Scherer, Maximilian Schieck, Susanne V Schmidt, Philipp Schommers, Christoph D Spinner, Maria J G T Vehreschild, Thirumalaisamy P Velavan, Sonja Volland, Sibylle Wilfling, Christof Winter, J Brent Richards, , André Heimbach, Kerstin Becker, Stephan Ossowski, Joachim L Schultze, Peter Nürnberg, Markus M Nöthen, Susanne Motameny, Michael Nothnagel, Olaf Riess, Eva C Schulte, Kerstin U Ludw |
Oral human papillomavirus infection and genotyping in a cohort of people living with HIV. Journal of immunoassay & immunochemistry 2024 12 1-18. O F Adebayo, F J Owotade, O A Folarin, O A Oninla, E O Oyeto |
Integrating rare pathogenic variant prioritization with gene-based association analysis to identify novel genes and relevant multimodal traits for Alzheimer's disease. Alzheimer's & dementia : the journal of the Alzheimer's Association 2024 12 . Jixin Cao, Cheng Zhang, Chun-Yi Zac Lo, Qihao Guo, Jing Ding, Xiaohui Luo, Zi-Chao Zhang, Feng Chen, , Tian-Lin Cheng, Jingqi Chen, Xing-Ming Zhao, |
Heterozygous inversion on chromosome 17 involving PAFAH1B1 detected by whole genome sequencing in a patient suffering from pachygyria. European journal of medical genetics 2024 12 104991. Jun Chen, Xiao-Ping Li, Guang-Jin Luo, Xiao-Ming Yu, Qiu-Yan Liu, Min Peng, Mei H |
Population-specific reference panel improves imputation quality for genome-wide association studies conducted on the Japanese population. Communications biology 2024 12 7 (1): 1665. Jack Flanagan, Xiaoxi Liu, David Ortega-Reyes, Kohei Tomizuka, Nana Matoba, Masato Akiyama, Masaru Koido, Kazuyoshi Ishigaki, Kyota Ashikawa, Sadaaki Takata, MingYang Shi, Tomomi Aoi, Yukihide Momozawa, Kaoru Ito, Yoshinori Murakami, Koichi Matsuda, , Yoichiro Kamatani, Andrew P Morris, Momoko Horikoshi, Chikashi Ter |
BRCA2 germline mutation carrier with five malignancies: a case report. Hereditary cancer in clinical practice 2024 12 22 (1): 27. Elena Su, Yann Christinat, Thomas McKee, Silvia Azzarello-Burri, Wolfram Jochum, Stefanie Fischer, Christian Rothermun |
Genetic Analysis of GCA Repeats in the GLS Gene: Implications for Undiagnosed Ataxia and Spinocerebellar Ataxia 3 in Mainland China. Movement disorders : official journal of the Movement Disorder Society 2024 12 . Lijing Lei, Linliu Peng, Linlin Wan, Zhao Chen, Chunrong Wang, Huirong Peng, Rong Qiu, Beisha Tang, Hong Jia |
Efficient reinterpretation of rare disease cases using Exomiser. NPJ genomic medicine 2024 12 9 (1): 65. Letizia Vestito, Julius O B Jacobsen, Susan Walker, Valentina Cipriani, Nomi L Harris, Melissa A Haendel, Christopher J Mungall, Peter Robinson, Damian Smedl |
Pharmacogenomic profiling of the South Korean population: Insights and implications for personalized medicine. Frontiers in pharmacology 2024 12 15 1476765. Mi Seon Youn, Se Hwan Ahn, Ju Han K |
Leveraging functional annotations to map rare variants associated with Alzheimer's disease with gruyere. medRxiv : the preprint server for health sciences 2024 12 . Anjali Das, Chirag Lakhani, Chloé Terwagne, Jui-Shan T Lin, Tatsuhiko Naito, Towfique Raj, David A Knowl |
CSNK2B Mutation: A Rare Cause of IGHD. Clinical endocrinology 2024 12 . Karine Aouchiche, Pauline Romanet, Anne Barlier, Thierry Brue, Morgane Pertuit, Rachel Reynaud, Alexandru Savea |
Prevalence of Transcription Factor 4 Gene Triplet Repeat Expansion Associated with Fuchs' Endothelial Corneal Dystrophy in the United States and Global Populations. Ophthalmology science 2024 12 5 (1): 100611. Xunzhi Zhang, Ashwani Kumar, Xin Gong, Chao Xing, V Vinod Moot |
Diagnosing Monogenic Stroke at Younger Age. Stroke 2024 11 . Andreea Ilinca, Efthymia Kafantari, Joel Wallenius, Ulf Kristoffersson, Elisabet Englund, Andreas Puschmann, Arne G Lindgr |
Biobank-scale characterization of Alzheimer's disease and related dementias identifies potential disease-causing variants, risk factors, and genetic modifiers across diverse ancestries. medRxiv : the preprint server for health sciences 2024 11 . Marzieh Khani, Fulya Akçimen, Spencer M Grant, S Can Akerman, Paul Suhwan Lee, Faraz Faghri, Hampton Leonard, Jonggeol Jeffrey Kim, Mary B Makarious, Mathew J Koretsky, Jeffrey D Rothstein, Cornelis Blauwendraat, Mike A Nalls, Andrew Singleton, Sara Bandres-Ci |
Co-occurring mutations identify prognostic subgroups of microsatellite stable colorectal cancer. Molecular cancer 2024 11 23 (1): 264. Luís Nunes, Jakob Mørkved Stenersen, Kushtrim Kryeziu, Tobias Sjöblom, Bengt Glimelius, Ragnhild A Lothe, Anita Sve |
Whole-genome sequencing to identify rare variants in East Asian patients with dementia with Lewy bodies. npj aging 2024 11 10 (1): 52. Tetsuaki Kimura, Kosuke Fujita, Takashi Sakurai, Shumpei Niida, Kouichi Ozaki, Daichi Shigemi |
Variants in LPA are associated with Familial Hypercholesterolaemia: whole genome sequencing analysis in the 100,000 Genomes Project. European journal of preventive cardiology 2024 11 . Martin Bird, Antoine Rimbert, Alan M Pittman, Steve E Humphries, Marta Fute |
Whole genome sequence-based association analysis of African American individuals with bipolar disorder and schizophrenia. medRxiv : the preprint server for health sciences 2025 1 . Runjia Li, Sarah A Gagliano Taliun, Kevin Liao, Matthew Flickinger, Janet L Sobell, Giulio Genovese, Adam E Locke, Rebeca Rothwell Chiu, Jonathon LeFaive, Taylor Martins, Sinéad Chapman, Anna Neumann, Robert E Handsaker, Donna K Arnett, Kathleen C Barnes, Eric Boerwinkle, David Braff, Brian E Cade, Myriam Fornage, Richard A Gibbs, Karin F Hoth, Lifang Hou, Charles Kooperberg, Ruth J F Loos, Ginger A Metcalf, Courtney G Montgomery, Alanna C Morrison, Zhaohui S Qin, Susan Redline, Alexander P Reiner, Stephen S Rich, Jerome I Rotter, Kent D Taylor, Karine A Viaud-Martinez, , , Tim B Bigdeli, Stacey Gabriel, Sebastian Zollner, Albert V Smith, Goncalo Abecasis, Steve McCarroll, Michele T Pato, Carlos N Pato, Michael Boehnke, James Knowles, Hyun Min Kang, Roel A Ophoff, Jason Ernst, Laura J Sco |
Whole-genome sequencing identifies novel loci for keratoconus and facilitates risk stratification in a Han Chinese population. Eye and vision (London, England) 2025 1 12 (1): 5. Yinghao Yao, Xingyong Li, Lan Wu, Jia Zhang, Yuanyuan Gui, Xiangyi Yu, Yang Zhou, Xuefei Li, Xinyu Liu, Shilai Xing, Gang An, Zhenlin Du, Hui Liu, Shasha Li, Xiaoguang Yu, , Hua Chen, Jianzhong Su, Shihao Ch |
Mitochondrial DNA Copy Number as a Potential Biomarker for the Severity of Motor Symptoms and Prognosis in Parkinson's Disease. Movement disorders : official journal of the Movement Disorder Society 2025 1 . Sungyang Jo, Ji-Hye Oh, Eun-Jae Lee, Moongwan Choi, Jihyun Lee, Sangjin Lee, Tae Won Kim, Chang Ohk Sung, Sun Ju Chu |
SNP rs6543176 is associated with extreme human longevity but increased risk for cancer. GeroScience 2025 1 . Anastasia Gurinovich, Zeyuan Song, Harold Bae, Anastasia Leshchyk, Mengze Li, Hannah Lords, Stacy L Andersen, Marianne Nygaard, Kaare Christensen, E Warwick Daw, Konstantin G Arbeev, Michael R Brent, Thomas T Perls, Paola Sebastia |
CHP2 Modifies Chronic Pseudomonas aeruginosa Airway Infection Risk in Cystic Fibrosis. Annals of the American Thoracic Society 2025 1 . Anna V Faino, William W Gordon, Kati Buckingham, Adrienne M Stilp, Rhonda G Pace, Karen S Raraigh, Joseph M Collaco, Yi-Hui Zhou, Hong Dang, Wanda O'Neal, Michael K Knowles, Garry R Cutting, Margaret Rosenfeld, Michael J Bamshad, Ronald L Gibson, Elizabeth E Blue, |
Efficient Generation of SOCS2 Knock-Out Sheep by Electroporation of CRISPR-Cas9 Ribonucleoprotein Complex with Dual-sgRNAs. The CRISPR journal 2025 1 . Ahmed K Mahdi, Devon S Fitzpatrick, Darren E Hagen, Bret R McNabb, Tara Urbano Beach, William M Muir, Nicholas Werry, Alison L Van Eenennaam, Juan F Medrano, Pablo J Ro |
Genomic characterization reveals distinct mutational landscape of acral melanoma in East Asian. Journal of genetics and genomics = Yi chuan xue bao 2025 1 . Fenghao Zhang, Xiaowen Wu, Tao Jiao, Haizhen Dua, Qian Guo, Chuanliang Cui, Zhihong Chi, Xinan Sheng, Dezhi Jiang, Yuhong Zhang, Jiayan Wu, Yan Kong, Lu |
Oligogenic risk score for Gilles de la Tourette syndrome reveals a genetic continuum of tic disorders. Journal of applied genetics 2025 1 . Malgorzata Borczyk, Jakub P Fichna, Marcin Piechota, S?awomir Go?da, Mateusz Zi?ba, Dzesika Hoinkis, Pawe? Ci?szczyk, Michal Korostynski, Piotr Janik, Cezary ?ekanows |
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