Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 1335 Records) |
| Query Trace: Whole genome sequencing[original query] |
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| Genetic variation and molecular profiling of congenital malformations of the female genital tract based on whole-genome sequencing. World journal of pediatrics : WJP 2024 9 . Jun-Jun Qiu, Xing-Yu Chang, Ning Zhang, Luo-Pei Guo, Shuai Wang, Wei-Yue Gu, Yi-Meng Yin, Zhi-Wen Shi, Ke-Qin H |
| Role of the X Chromosome in Alzheimer Disease Genetics. JAMA neurology 2024 9 . Michael E Belloy, Yann Le Guen, Ilaria Stewart, Kennedy Williams, Joachim Herz, Richard Sherva, Rui Zhang, Victoria Merritt, Matthew S Panizzon, Richard L Hauger, J Michael Gaziano, Mark Logue, Valerio Napolioni, Michael D Greici |
| Association analysis of mitochondrial DNA heteroplasmic variants: Methods and application. Mitochondrion 2024 9 79 101954. 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 |
| Impact of TP53 loss-of-function alterations on the response to PSMA radioligand therapy in metastatic castration-resistant prostate cancer patients. Theranostics 2024 9 14 (12): 4555-4569. Peter H J Slootbeek, María Victoria Luna-Velez, Bastiaan M Privé, Maarten J van der Doelen, Iris S H Kloots, Samhita Pamidimarri Naga, Hilde E Onstenk, James Nagarajah, Harm Westdorp, Inge M van Oort, Leonie I Kroeze, Jack A Schalken, Haiko J Bloemendal, Niven Meh |
| Exploring novel MYH7 gene variants using in silico analyses in Korean patients with cardiomyopathy. BMC medical genomics 2024 9 17 (1): 225. Oc-Hee Kim, Jihyun Kim, Youngjun Kim, Soyoung Lee, Beom Hee Lee, Bong-Jo Kim, Hyun-Young Park, Mi-Hyun Pa |
| Genomic instability in congenital lung malformations in children. Pediatric surgery international 2024 9 40 (1): 248. Ronald Rodrigues de Moura, Sara Patrizi, Emmanouil Athanasakis, Jurgen Schleef, Federica Pederiva, Adamo Pio d'Ada |
| Whole-genome analysis of plasma fibrinogen reveals population-differentiated genetic regulators with putative liver roles. Blood 2024 9 . Jennifer E Huffman, Jayna Nicholas, Julie Hahn, Adam S Heath, Laura M Raffield, Lisa R Yanek, Jennifer A Brody, Florian Thibord, Laura Almasy, Traci M Bartz, Lawrence F Bielak, Russell P Bowler, German D Carrasquilla, Daniel I Chasman, Ming-Huei Chen, David B Emmert, Mohsen Ghanbari, Jeffrey Haessler, Jouke J Hottenga, Marcus E Kleber, Ngoc-Quynh Le, Jiwon Lee, Joshua P Lewis, Ruifang Li-Gao, Jian'an Luan, Anni Liisi Malmberg, Massimo Mangino, Riccardo Marioni, Angel Martinez-Perez, Nathan Pankratz, Ozren Polasek, Anne Richmond, Benjamin A T Rodriguez, Jerome I Rotter, Maristella Steri, Pierre Suchon, Stella Trompet, Stefan Weiss, Marjan Zare, Paul L Auer, Michael Cho, Paraskevi Christofidou, Gail Davies, Eco Jc de Geus, Jean-François Deleuze, Graciela E Delgado, Lynette Ekunwe, Nauder Faraday, Martin Gogele, Andreas Greinacher, He Gao, Tom E Howard, Peter K Joshi, Tuomas O Kilpeläinen, Jari Lahti, Allan Linneberg, Silvia Naitza, Raymond Noordam, Ferran Paüls Vergés, Stephen S Rich, Frits R Rosendaal, Igor Rudan, Kathleen A Ryan, Juan Carlos Carlos Souto, Frank J A van Rooij, Heming Wang, Wei Zhao, Lewis Becker, Andrew Beswick, Michael R Brown, Brian Cade, Harry Campbell, Kelly Cho, James Crapo, Joanne Curran, Moniek P M de Maat, Margaret F Doyle, Paul Elliott, James S Floyd, Christian Fuchsberger, Niels Grarup, Xiuqing Guo, Sarah Harris, Lifang Hou, Ivana Kolcic, Charles Kooperberg, Cristina Menni, Matthias Nauck, Jeffrey R O'Connell, Valeria Orru, Bruce M Psaty, Katri Räikkönen, Jennifer A Smith, Jose Manuel Soria, David Stott, Astrid van Hylckama Vlieg, Hugh Watkins, Gonneke Willemsen, Peter Wf Wilson, Yoav Ben-Shlomo, John Blangero, Dorret Boomsma, Simon R Cox, Abbas Dehghan, Johan G Eriksson, Edoardo Fiorillo, Myriam Fornage, Torben Hansen, Caroline Hayward, Mohammad Arfan Ikram, J Wouter Jukema, Sharon Kardia, Leslie Lange, Winfried Maerz, Rasika Mathias, Braxton D Mitchell, Dennis O Mook-Kanamori, Pierre-Emmanuel Morange, Oluf Pedersen, Peter P Pramstaller, Susan Redline, Alex P Reiner, Paul M Ridker, Edwin K Silverman, Tim D Spector, Uwe Volker, Nick Wareham, James Wilson, Jie Yao, David-Alexandre Tregouet, Andrew D Johnson, Alisa S Wolberg, Paul S de Vries, Maria Sabater-Lleal, Alanna Morrison, Nicholas L Smi |
| Whole-genome Sequencing Association Analysis of Quantitative Platelet Traits in A Large Cohort of ?-thalassemia. Genomics, proteomics & bioinformatics 2024 9 . Xingmin Wang, Qianqian Zhang, Xianming Chen, Yushan Huang, Wei Zhang, Liuhua Liao, Xinhua Zhang, Binbin Huang, Yueyan Huang, Yuhua Ye, Mengyang Song, Jinquan Lao, Juanjuan Chen, Xiaoqin Feng, Xingjiang Long, Zhixiang Liu, Weijian Zhu, Lian Yu, Chengwu Fan, Deguo Tang, Tianyu Zhong, Mingyan Fang, Caiyun Li, Chao Niu, Li Huang, Bin Lin, Xiaoyun Hua, Xin Jin, Zilin Li, Xiangmin |
| Novel variants and genotype-phenotype correlation in a multicentre cohort of GNE myopathy in China. Journal of medical genetics 2024 9 . Kexin Jiao, Jialong Zhang, Qiuxiang Li, Xiaoqing Lv, Yanyan Yu, Bochen Zhu, Huahua Zhong, Xu'en Yu, Jia Song, Qing Ke, Fangyuan Qian, Xinghua Luan, Xiaojie Zhang, Xueli Chang, Liang Wang, Meirong Liu, Jihong Dong, Zhangyu Zou, Bitao Bu, Haishan Jiang, LingChun Liu, Yue Li, Dongyue Yue, Xuechun Chang, Yongsheng Zheng, Ningning Wang, Mingshi Gao, Xingyu Xia, Nachuan Cheng, Tao Wang, Su-Shan Luo, Jianying Xi, Jie Lin, Jiahong Lu, Chongbo Zhao, Huan Yang, Pengfei Lin, Daojun Hong, Zhe Zhao, Zhiqiang Wang, Wenhua Z |
| Identification of 16 novel Alzheimer's disease susceptibility loci using multi-ancestry meta-analyses of clinical Alzheimer's disease and AD-by-proxy cases from four whole genome sequencing datasets. medRxiv : the preprint server for health sciences 2024 9 . Julian Daniel Sunday Willett, Mohammad Waqas, Younjung Choi, Tiffany Ngai, Kristina Mullin, Rudolph E Tanzi, Dmitry Prokopen |
| Mitochondrial DNA copy number associated dementia risk by somatic mutations and frailty. GeroScience 2024 9 . Qu Tian, David A Zweibaum, Yong Qian, Richard F Oppong, Luke C Pilling, Francesco Casanova, Janice L Atkins, David Melzer, Jun Ding, Luigi Ferruc |
| Genome-wide association analysis and admixture mapping in a Puerto Rican cohort supports an Alzheimer disease risk locus on chromosome 12. Frontiers in aging neuroscience 2024 9 16 1459796. Bilcag Akgun, Briseida E Feliciano-Astacio, Kara L Hamilton-Nelson, Kyle Scott, Joe Rivero, Larry D Adams, Jose J Sanchez, Glenies S Valladares, Sergio Tejada, Parker L Bussies, Concepcion Silva-Vergara, Vanessa C Rodriguez, Pedro R Mena, Katrina Celis, Patrice G Whitehead, Michael Prough, Christina Kosanovic, Derek J Van Booven, Michael A Schmidt, Heriberto Acosta, Anthony J Griswold, Clifton L Dalgard, Katalina F McInerney, Gary W Beecham, Michael L Cuccaro, Jeffery M Vance, Margaret A Pericak-Vance, Farid Rajab |
| Genetic Risk Factors in Isolated Dystonia Escape Genome-Wide Association Studies. Movement disorders : official journal of the Movement Disorder Society 2024 9 . Björn-Hergen Laabs, Katja Lohmann, Eva-Juliane Vollstedt, Tobias Reinberger, Lisa-Marie Nuxoll, Gamze Kilic-Berkmen, Joel S Perlmutter, Sebastian Loens, Carlos Cruchaga, Andre Franke, Valerija Dobricic, Frauke Hinrichs, Anne Grözinger, Eckart Altenmüller, Steven Bellows, Sylvia Boesch, Susan B Bressman, Kevin R Duque, Alberto J Espay, Andreas Ferbert, Jeanne S Feuerstein, Samuel Frank, Thomas Gasser, Bernhard Haslinger, Robert Jech, Frank Kaiser, Christoph Kamm, Katja Kollewe, Andrea A Kühn, Mark S LeDoux, Ebba Lohmann, Abhimanyu Mahajan, Alexander Münchau, Trisha Multhaupt-Buell, Alexander Pantelyat, Sarah E Pirio Richardson, Deborah Raymond, Stephen G Reich, Rachel Saunders Pullman, Barbara Schormair, Nutan Sharma, Azadeh Hamzehei Sichani, Kristina Simonyan, Jens Volkmann, Aparna Wagle Shukla, Juliane Winkelmann, Laura J Wright, Michael Zech, Kirsten E Zeuner, Simone Zittel, Meike Kasten, Yan V Sun, Tobias Bäumer, Norbert Brüggemann, Laurie J Ozelius, Hyder A Jinnah, Christine Klein, Inke R Kön |
| A blended genome and exome sequencing method captures genetic variation in an unbiased, high-quality, and cost-effective manner. bioRxiv : the preprint server for biology 2024 9 . Toni A Boltz, Benjamin B Chu, Calwing Liao, Julia M Sealock, Robert Ye, Lerato Majara, Jack M Fu, Susan Service, Lingyu Zhan, Sarah E Medland, Sinéad B Chapman, Simone Rubinacci, Matthew DeFelice, Jonna L Grimsby, Tamrat Abebe, Melkam Alemayehu, Fred K Ashaba, Elizabeth G Atkinson, Tim Bigdeli, Amanda B Bradway, Harrison Brand, Lori B Chibnik, Abebaw Fekadu, Michael Gatzen, Bizu Gelaye, Stella Gichuru, Marissa L Gildea, Toni C Hill, Hailiang Huang, Kalyn M Hubbard, Wilfred E Injera, Roxanne James, Moses Joloba, Christopher Kachulis, Phillip R Kalmbach, Rogers Kamulegeya, Gabriel Kigen, Soyeon Kim, Nastassja Koen, Edith K Kwobah, Joseph Kyebuzibwa, Seungmo Lee, Niall J Lennon, Penelope A Lind, Esteban A Lopera-Maya, Johnstone Makale, Serghei Mangul, Justin McMahon, Pierre Mowlem, Henry Musinguzi, Rehema M Mwema, Noeline Nakasujja, Carter P Newman, Lethukuthula L Nkambule, Conor R O'Neil, Ana Maria Olivares, Catherine M Olsen, Linnet Ongeri, Sophie J Parsa, Adele Pretorius, Raj Ramesar, Faye L Reagan, Chiara Sabatti, Jacquelyn A Schneider, Welelta Shiferaw, Anne Stevenson, Erik Stricker, Rocky E Stroud, Jessie Tang, David Whiteman, Mary T Yohannes, Mingrui Yu, Kai Yuan, , Dickens Akena, Lukoye Atwoli, Symon M Kariuki, Karestan C Koenen, Charles R J C Newton, Dan J Stein, Solomon Teferra, Zukiswa Zingela, Carlos N Pato, Michele T Pato, Carlos Lopez-Jaramillo, Nelson Freimer, Roel A Ophoff, Loes M Olde Loohuis, Michael E Talkowski, Benjamin M Neale, Daniel P Howrigan, Alicia R Mart |
| Temporal Genomic Dynamics Shape Clinical Trajectory in Multiple Myeloma. bioRxiv : the preprint server for biology 2024 9 . Francesco Maura, Marcella Kaddoura, Alexandra M Poos, Linda B Baughn, Bachisio Ziccheddu, Marc-Andrea Bärtsch, Anthony Cirrincione, Kylee Maclachlan, Monika Chojnacka, Benjamin Diamond, Marios Papadimitriou, Patrick Blaney, Lukas John, Philipp Reichert, Stefanie Huhn, Dylan Gagler, Yanming Zhang, Ahmet Dogan, Alexander M Lesokhin, Faith Davies, Hartmut Goldschmidt, Roland Fenk, Katja C Weisel, Elias K Mai, Neha Korde, Gareth J Morgan, S Vincent Rajkumar, Shaji Kumar, Saad Usmani, Ola Landgren, Marc S Raab, Niels Weinho |
| Phenome-Wide Association of APOE Alleles in the All of Us Research Program. medRxiv : the preprint server for health sciences 2024 9 . Ehsan Khajouei, Valentina Ghisays, Ignazio S Piras, Kiana L Martinez, Marcus Naymik, Preston Ngo, Tam C Tran, Joshua C Denny, Travis J Wheeler, Matthew J Huentelman, Eric M Reiman, Jason H Karn |
| Whole genome sequencing in adults with clinical hallmarks of hypophosphatasia negative for ALPL variants. Molecular biology reports 2024 9 51 (1): 984. Lothar Seefried, Anna Petryk, Guillermo Del Angel, Felix Reder, Peter Bau |
| Concomitant presence of a novel ARPP21 variant and CNVs in Chinese familial amyotrophic lateral sclerosis-frontotemporal dementia patients. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2024 9 . Yiying Wang, Runqing Ju, Jingsi Jiang, Le Mao, Xiaogang Li, Min De |
| Mutational spectrum of breast cancer by shallow whole-genome sequencing of cfDNA and tumor gene panel analysis. PloS one 2024 9 19 (9): e0308176. Fernando Ambriz-Barrera, Ernesto Rojas-Jiménez, Clara Estela Díaz-Velásquez, Aldo Hugo De-La-Cruz-Montoya, Héctor Martínez-Gregorio, Miguel Ruiz-De-La-Cruz, Antonio Huertas, Ana Lorena Montealegre, Carlos Castro-Rojas, Gabriela Acosta, Felipe Vaca-Paniagua, Sandra Perdo |
| Genetic modifiers of body mass index in individuals with cystic fibrosis. American journal of human genetics 2024 9 . Hua Ling, Karen S Raraigh, Elizabeth W Pugh, Melis A Aksit, Peng Zhang, Rhonda G Pace, Anna V Faino, Michael J Bamshad, Ronald L Gibson, Wanda O'Neal, Michael R Knowles, Scott M Blackman, Garry R Cutting, |
| Genetic spectrum features and diagnostic accuracy of four plasma biomarkers in 248 Chinese patients with frontotemporal dementia. Alzheimer's & dementia : the journal of the Alzheimer's Association 2024 9 . Tianyan Xu, Ling Weng, Cong Zhang, Xuewen Xiao, Qijie Yang, Yuan Zhu, Yafang Zhou, Xinxin Liao, Shilin Luo, Junling Wang, Beisha Tang, Bin Jiao, Lu Sh |
| Early circulating tumor DNA changes predict outcomes in head and neck cancer patients under re-radiotherapy. International journal of cancer 2024 8 . Florian Janke, Florian Stritzke, Katharina Dvornikovich, Henrik Franke, Arlou Kristina Angeles, Anja Lisa Riediger, Simon Ogrodnik, Sabrina Gerhardt, Sebastian Regnery, Philipp Schröter, Lukas Bauer, Katharina Weusthof, Magdalena Görtz, Semi Harrabi, Klaus Herfarth, Christian Neelsen, Daniel Paech, Heinz-Peter Schlemmer, Amir Abdollahi, Sebastian Adeberg, Jürgen Debus, Holger Sültmann, Thomas He |
| Whole genome sequencing reveals the mutational landscape from disease diagnosis to relapse in patients with childhood acute myeloid leukaemia. The Malaysian journal of pathology 2024 8 46 (2): 259-278. H Aziz, N S Ab Mutalib, H Alias, R Jam |
| Quantifying variant contributions in cystic kidney disease using national-scale whole genome sequencing. The Journal of clinical investigation 2024 8 . Omid Sadeghi-Alavijeh, Melanie My Chan, Gabriel T Doctor, Catalin D Voinescu, Alexander Stuckey, Athanasios Kousathanas, Alexander T Ho, Horia C Stanescu, Detlef Bockenhauer, Richard N Sandford, Adam P Levine, Daniel P Ga |
| Genetic architecture of telomere length in 462,666 UK Biobank whole-genome sequences. Nature genetics 2024 8 . Oliver S Burren, Ryan S Dhindsa, Sri V V Deevi, Sean Wen, Abhishek Nag, Jonathan Mitchell, Fengyuan Hu, Douglas P Loesch, Katherine R Smith, Neetu Razdan, Henric Olsson, Adam Platt, Dimitrios Vitsios, Qiang Wu, , Veryan Codd, Christopher P Nelson, Nilesh J Samani, Ruth E March, Sebastian Wasilewski, Keren Carss, Margarete Fabre, Quanli Wang, Menelas N Pangalos, Slavé Petrovs |
| Evolutionary Measures Show that Recurrence of DCIS is Distinct from Progression to Breast Cancer. medRxiv : the preprint server for health sciences 2024 8 . Angelo Fortunato, Diego Mallo, Luis Cisneros, Lorraine M King, Aziz Khan, Christina Curtis, Marc D Ryser, Joseph Y Lo, Allison Hall, Jeffrey R Marks, E Shelley Hwang, Carlo C Mal |
| Structural variants linked to Alzheimer's Disease and other common age-related clinical and neuropathologic traits. medRxiv : the preprint server for health sciences 2024 8 . Ricardo A Vialle, Katia de Paiva Lopes, Yan Li, Bernard Ng, Julie A Schneider, Aron S Buchman, Yanling Wang, Jose M Farfel, Lisa L Barnes, Aliza P Wingo, Thomas S Wingo, Nicholas T Seyfried, Philip L De Jager, Chris Gaiteri, Shinya Tasaki, David A Benne |
| Genomic structural variations link multiple genes to bone mineral density in a multi-ethnic cohort study: Louisiana osteoporosis study. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2024 8 . Kuan-Jui Su, Chuan Qiu, Jonathan Greenbaum, Xiao Zhang, Anqi Liu, Yong Liu, Zhe Luo, Shashank Sajjan Mungasavalli Gnanesh, Qing Tian, Lan-Juan Zhao, Hui Shen, Hong-Wen De |
| A molecular analysis of meropenem-vaborbactam non-susceptible KPC-producing Klebsiella pneumoniae. Antimicrobial agents and chemotherapy 2024 8 e0020824. Mohamad Yasmin, Steven H Marshall, Liang Chen, Daniel D Rhoads, Michael R Jacobs, Laura J Rojas, Federico Perez, Andrea M Hujer, Kristine M Hujer, David van Duin, Vance Fowler, Henry F Chambers, Barry N Kreiswirth, Robert A Bonomo, |
| Association between PPAR? polymorphisms and neurological functional disability of ischemic stroke. Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism 2024 8 271678X241274681. Ran Yan, Xin Qiu, Yalun Dai, Yingyu Jiang, Hongqiu Gu, Yong Jiang, Lingling Ding, Si Cheng, Xia Meng, Yilong Wang, Xingquan Zhao, Hao Li, Yongjun Wang, Zixiao |
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