Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 161 Records) |
| Query Trace: Electronic health records[original query] |
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| Prevalence of PIK3CA mutations in Taiwanese patients with breast cancer: a retrospective next-generation sequencing database analysis. Frontiers in oncology 2023 9 13 1192946. Ta-Chung Chao, Yi-Fang Tsai, Chun-Yu Liu, Pei-Ju Lien, Yen-Shu Lin, Chin-Jung Feng, Yen-Jen Chen, Jiun-I Lai, Chih-Yi Hsu, Jiun Jen Lynn, Chi-Cheng Huang, Ling-Ming Tse |
| CYP2D6 Genotype and Pharmacovigilance Impact on Autism Spectrum Disorder: A Naturalistic Study with Extreme Phenotype Analysis. Pharmaceuticals (Basel, Switzerland) 2023 7 16 (7): . Pura Ballester, Cristina Espadas, Susana Almenara, Jordi Barrachina, Javier Muriel, Enrique Ramos, Natalia Toral, César Belda, Ana M Pei |
| Impact of encorafenib on survival of patients with BRAF-mutant metastatic colorectal cancer in a real-world setting. Journal of cancer research and clinical oncology 2023 7 . M Zurloh, M Goetz, T Herold, J Treckmann, P Markus, B Schumacher, D Albers, A Rink, V Rosery, G Zaun, K Kostbade, M Pogorzelski, S Ting, H Schmidt, R Stiens, M Wiesweg, M Schuler, Stefan Kasper, I Virch |
| Exome-wide evidence of compound heterozygous effects across common phenotypes in the UK Biobank. medRxiv : the preprint server for health sciences 2023 7 . Frederik H Lassen, Samvida S Venkatesh, Nikolas Baya, Wei Zhou, Alex Bloemendal, Benjamin M Neale, Benedikt M Kessler, Nicola Whiffin, Cecilia M Lindgren, Duncan S Palm |
| Genome-phenome wide association study of broadly defined headache. Brain communications 2023 6 5 (3): fcad167. Wan-Ting Hsu, Yu-Ting Lee, Jasmine Tan, Yung-Han Chang, Frank Qian, Kuei-Yu Liu, Jo-Ching Hsiung, Chia-Hung Yo, Sung-Chun Tang, Xia Jiang, Chien-Chang L |
| Tacrolimus pharmacokinetics are influenced by CYP3A5, age, and concomitant fluconazole in pediatric kidney transplant patients. Clinical and translational science 2023 6 . Alaa Alghamdi, Sarah Seay, David K Hooper, Charles D Varnell, Leanna Darland, Tomoyuki Mizuno, Danielle Lazear, Laura B Rams |
| Whole-genome sequencing analysis of suicide deaths integrating brain-regulatory eQTLs data to identify risk loci and genes. Molecular psychiatry 2023 10 . Seonggyun Han, Emily DiBlasi, Eric T Monson, Andrey Shabalin, Elliott Ferris, Danli Chen, Alison Fraser, Zhe Yu, Michael Staley, W Brandon Callor, Erik D Christensen, David K Crockett, Qingqin S Li, Virginia Willour, Amanda V Bakian, Brooks Keeshin, Anna R Docherty, Karen Eilbeck, Hilary Co |
| ADRA2A and IRX1 are putative risk genes for Raynaud's phenomenon. Nature communications 2023 10 14 (1): 6156. Sylvia Hartmann, Summaira Yasmeen, Benjamin M Jacobs, Spiros Denaxas, Munir Pirmohamed, Eric R Gamazon, Mark J Caulfield, , Harry Hemingway, Maik Pietzner, Claudia Langenbe |
| Rare Genetic Variants in LDLR, APOB, and PCSK9 are Associated with Aortic Stenosis. Circulation 2024 9 . Joel Rämö, Sean J Jurgens, Shinwan Kany, Seung Hoan Choi, Xin Wang, Andrey N Smirnov, Sam Freesun Friedman, Mahnaz Maddah, Shaan Khurshid, Patrick T Ellinor, James Paul Pirruccel |
| Improving genetic risk modeling of dementia from real-world data in underrepresented populations. Communications biology 2024 8 7 (1): 1049. Mingzhou Fu, Leopoldo Valiente-Banuet, Satpal S Wadhwa, Bogdan Pasaniuc, Keith Vossel, Timothy S Cha |
| Evaluating the risk of new-onset glaucoma in chronic kidney disease patients: a nationwide cohort study. BMC nephrology 2024 8 25 (1): 263. Alan Y Hsu, Yi-Ching Shao, Chun-Ju Lin, Huan-Sheng Chen, Cheng-Li Lin, Der-Yang Cho, Yi-Yu Ts |
| A genome-first approach to characterize DICER1 pathogenic variant prevalence, penetrance and cancer, thyroid, and other phenotypes in 2 population-scale cohorts. Genetics in medicine open 2024 7 2 . Jung Kim, Jeremy Haley, Jessica N Hatton, Uyenlinh L Mirshahi, H Shanker Rao, Mark F Ramos, Diane Smelser, Gretchen Urban, Kris Ann P Schultz, David J Carey, Douglas R Stewa |
| Exploring the moderating effects of SIRT1 and gene polymorphisms rs7895833 on the relationship between hemoglobin levels and physical frailty in elderly adults with comorbid chronic diseases: A moderated mediation analysis. F1000Research 2024 5 12 510. Dedi Ardinata, Novita Sari Harahap, Nenni Dwi Aprianti Lubis, Tetty Aman Nasuti |
| Impact of loss-of-function in angiopoietin-like 4 on the human phenome. Atherosclerosis 2024 5 393 117558. Eloi Gagnon, Jérome Bourgault, Émilie Gobeil, Sébastien Thériault, Benoit J Arsenau |
| Characterizing genetic profiles for high triglyceride levels in U.S. patients of African ancestry. Journal of lipid research 2024 5 100569. Lan Jiang, Srushti Gangireddy, Alyson L Dickson, Yi Xin, Chao Yan, Vivian Kawai, Nancy J Cox, MacRae F Linton, Wei-Qi Wei, C Michael Stein, QiPing Fe |
| Combining KRAS gene status with preoperative D?dimer levels as a predictive marker of venous thromboembolism risk in patients with resectable colorectal cancer: A prospective cohort study. Biomedical reports 2024 5 20 (6): 96. Duogang Xu, Yulei He, Changkang Liao, Jing T |
| Phenomewide Association Study of Health Outcomes Associated With the Genetic Correlates of 25 Hydroxyvitamin D Concentration and Vitamin D Binding Protein Concentration. Twin research and human genetics : the official journal of the International Society for Twin Studies 2024 4 1-11. Hailey A Kresge, Freida Blostein, Slavina Goleva, Clara Albiñana, Joana A Revez, Naomi R Wray, Bjarni J Vilhjálmsson, Zhihong Zhu, John J McGrath, Lea K Dav |
| Genome-first evaluation with exome sequence and clinical data uncovers underdiagnosed genetic disorders in a large healthcare system. Cell reports. Medicine 2024 4 101518. Iain S Forrest, Áine Duffy, Joshua K Park, Ha My T Vy, Louis R Pasquale, Girish N Nadkarni, Judy H Cho, Ron |
| Characteristics of Patients With Alpha-1 Antitrypsin Deficiency From Rural Appalachia: A Retrospective Single-Center Study. Cureus 2024 4 16 (3): e56395. Sandhya Kolagatla, Dedeepya Gullapalli, Avinash Vangara, Regina Chan, Derek Jernigan, Nagabhishek Moka, Subramanya Shyam Gan |
| Associations of Serum 25-hydroxyvitamin D and Vitamin D Receptor Polymorphisms with Risks of Cardiovascular Disease and Mortality among Patients with Chronic Kidney Disease: A Prospective Study. The American journal of clinical nutrition 2024 4 . Shiyu Zhao, Xue Chen, Zhenzhen Wan, Tingting Geng, Qi Lu, Hancheng Yu, Xiaoyu Lin, An Pan, Gang L |
| Genotype-First Analysis in an Unselected Health System-Based Population and Phenotypic Severity of COL4A5 Variants. Journal of the American Society of Nephrology : JASN 2024 12 . McKenzie Zellers, Kaushal Solanki, Melissa A Kelly, Karyn M Murphy, Kyle Retterer, H Les Kirchner, Ion Dan Bucaloiu, Bryn Moore, Tooraj Mirshahi, Alexander R Cha |
| A novel clinical brain prognostic index for KRAS-mutated lung cancer and brain metastases (KRAS-BPI): Real-world evidence from two large European centers. Lung cancer (Amsterdam, Netherlands) 2024 12 199 108065. Ioannis Zerdes, Caroline Kamali, Berglind Johannsdottir, Miriam Blasi, Christin Assmann, Daniel Kazdal, Albrecht Stenzinger, Marcus Skribek, Simon Ekman, Petros Christopoulos, Georgios Tsakon |
| Use of Estonian Biobank data and participant recall to improve Wilson's disease management. European journal of human genetics : EJHG 2024 12 . Miriam Nurm, Anu Reigo, Tarmo Annilo, Toomas Toomsoo, Margit Nõukas, Tiit Nikopensius, Vasili Pankratov, Tuuli Reisberg, Georgi Hudjashov, , Toomas Haller, Neeme Tõniss |
| Mental illness and antibody responses after COVID-19 vaccination in a prospective population-based study in Catalonia. Vaccine 2024 12 45 126591. Marianna Karachaliou, Ana Espinosa, Xavier Farré, Natalia Blay, Gemma Castaño-Vinyals, Susana Iraola-Guzmán, Rocio Rubio, Marta Vidal, Alfons Jiménez, Marc Bañuls, Ruth Aguilar, Judith Garcia-Aymerich, Carlota Dobaño, Manolis Kogevinas, Gemma Moncunill, Rafael de C |
| Association of Angiotensin Converting Enzyme Phenotypes and Polymorphisms with Clinical Outcomes in SARS-CoV2 Patients with Hypertension in an Urban Emergency Department. Current hypertension reviews 2024 10 . Heather M Prendergast, Pavitra Kotini-Shah, Ruth Pobee, Maxwell Richardson, Amer Ardati, Dawood Darbar, Shaveta Khos |
| Identification of Novel Genetic Risk Variants Associated with Hidradenitis Suppurativa in an Exome Sequencing Cohort of 92,455 Individuals. Dermatology (Basel, Switzerland) 2024 10 1-11. Raghu P Metpally, Sangeetha Vishweswaraiah, Sarathbabu Krishnamurthy, Nazia Saiyed, Richard C Stahl, Alicia Golden, Andrew Denisenko, Jeffrey Staples, Claudia Gonzaga-Jauregui, David J Carey, Falk Bechara, Gregor B E Jemec, Heinric Williams, Uppala Radhakrishna, |
| FDrisk: development of a validated risk assessment tool for Fabry disease utilizing electronic health record data. Journal of rare diseases (Berlin, Germany) 2024 1 3 (1): 2. Caryn J Lobel, Dawn A Laney, Jingjing Yang, David Jacob, Amy Rickheim, Carol Z Ogg, Diana Clynes, Jessica Dron |
| Titin-Truncating variants Predispose to Dilated Cardiomyopathy in Diverse Populations. medRxiv : the preprint server for health sciences 2024 1 . John DePaolo, Marc Bornstein, Renae Judy, Sarah Abramowitz, Shefali S Verma, Michael G Levin, Zoltan Arany, Scott M Damrau |
| Sick individuals, sick populations revisited: a test of the Rose hypothesis for type 2 diabetes disparities. BMJ public health 2024 1 1 (1): . Sonali Gupta, I King Jordan, Leonardo Mariño-Ramír |
| First-line osimertinib compared to earlier generation TKIs in advanced EGFR-mutant NSCLC: A real-world survival analysis. Lung cancer (Amsterdam, Netherlands) 2025 1 200 108084. Igor Gomez-Randulfe, Lauren A Scanlon, Mathew Carter, Laura Moliner, Emine Cil, Raffaele Califano, Yvonne Summers, Fiona Blackhall, Colin R Lindsay, Jacob Lewis, Fabio Gom |
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