Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 965 Records) |
Query Trace: MAF[original query] |
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The diagnostic yield of exome sequencing in liver diseases from a curated gene panel. Scientific reports 2023 12 13 (1): 21540. Xiao-Fei Kong, Kelsie Bogyo, Sheena Kapoor, Patrick R Shea, Emily E Groopman, Amanda Thomas-Wilson, Enrico Cocchi, Hila Milo Rasouly, Beishi Zheng, Siming Sun, Junying Zhang, Mercedes Martinez, Jennifer M Vittorio, Lorna M Dove, Maddalena Marasa, Timothy C Wang, Elizabeth C Verna, Howard J Worman, Ali G Gharavi, David B Goldstein, Julia Wattacher |
Identification of novel rare variants for anxiety: an exome-wide association study in the UK Biobank. Progress in neuro-psychopharmacology & biological psychiatry 2023 12 130 110928. Chuyu Pan, Shiqiang Cheng, Li Liu, Yujing Chen, Peilin Meng, Xuena Yang, Chun'e Li, Jingxi Zhang, Zhen Zhang, Huijie Zhang, Bolun Cheng, Yan Wen, Yumeng Jia, Feng Zha |
BIRC5 Gene Polymorphisms Are Associated with a Higher Stage of Local and Regional Disease in Oral and Oropharyngeal Squamous Cell Carcinomas. International journal of molecular sciences 2023 12 24 (24): . Ivan Mumlek, Petar Ozreti?, Maja Sabol, Matko Leovi?, Ljubica Glavaš-Obrovac, Dinko Leovi?, Vesna Musa |
Influence of the rs4238001 Genetic Polymorphism of the SR-B1 Gene on Serum Lipid Levels and Response to Rosuvastatin in Myocardial Infarction Iraqi Patients. Biochemical genetics 2023 12 . Shaimaa Y Abdulfattah, Huda Salman Alagely, Farah T Sama |
GLP1R rs3765467 Polymorphism Is Associated with the Risk of Early Onset Type 2 Diabetes. International journal of endocrinology 2023 12 2023 8729242. Yunyun Fang, Jingjing Zhang, Linlin Ji, Chaoyu Zhu, Yuanyuan Xiao, Qingge Gao, Wenjing Song, Li W |
Uncovering myocardial infarction genetic signatures using GWAS exploration in Saudi and European cohorts. Scientific reports 2023 12 13 (1): 21866. Amein K Al-Ali, Abdullah M Al-Rubaish, Rudaynah A Alali, Mohammed S Almansori, Mohammed A Al-Jumaan, Abdullah M Alshehri, Mohammed S Al-Madan, ChittiBabu Vatte, Tess Cherlin, Sylvia Young, Shefali S Verma, Grant Morahan, Bobby P C Koeleman, Brendan J Keati |
The Impact of Certain Pharmacogenetic Differences on the Metabolism of Antiretroviral Drugs Used in A Black South African Population. Current drug metabolism 2023 11 . Riaan Reay, Michelle Viljoen, Malie Rheede |
Genomic profiling of tissue and blood predicts survival outcomes in patients with resected pleural mesothelioma. European journal of cancer (Oxford, England : 1990) 2023 11 196 113457. Diego de Miguel-Perez, Edward M Pickering, Umberto Malapelle, William Grier, Francesco Pepe, Pasquale Pisapia, Gianluca Russo, Joseph A Pinto, Alessandro Russo, Giancarlo Troncone, Melissa J Culligan, Katherine A Scilla, Ranee Mehra, Pranshu Mohindra, Oscar Arrieta, Andres F Cardona, Marzia Del Re, Ashutosh Sachdeva, Fred R Hirsch, Andrea Wolf, Joseph S Friedberg, Christian Rol |
Participation of Single-Nucleotide Variants in IFNAR1 and IFNAR2 in the Immune Response against SARS-CoV-2 Infection: A Systematic Review. Pathogens (Basel, Switzerland) 2023 11 12 (11): . María Fernanda López-Bielma, Ramcés Falfán-Valencia, Edgar Abarca-Rojano, Gloria Pérez-Rub |
Sequence Variant Analysis of the APOCII Locus among an Arab Cohort. International journal of molecular sciences 2023 11 24 (22): . Suzanne A Al-Bustan, Maryam H Alrashid, Ahmad E Al-Serri, Babitha G Annice, Hussain M Bahbaha |
Penetrance and expressivity of mitochondrial variants in a large clinically unselected population. Human molecular genetics 2023 11 . Stuart J Cannon, Timothy Hall, Gareth Hawkes, Kevin Colclough, Roisin M Boggan, Caroline F Wright, Sarah J Pickett, Andrew T Hattersley, Michael N Weedon, Kashyap A Pat |
Gaps in current methods to detect polymorphic CpGs from Illumina Infinium human methylation microarrays and exploring their potential impact in multi-EWAS analyses. Epigenetics 2023 11 18 (1): 2281153. Basharat Bhat, Gregory T Jon |
A whole exome sequencing study to identify rare variants in multiplex families with alcohol use disorder. Frontiers in psychiatry 2023 11 14 1216493. Shirley Y Hill, Joseph Host |
Polycystic Ovarian Syndrome Physiologic Pathways Implicated Through Clustering of Genetic Loci. The Journal of clinical endocrinology and metabolism 2023 11 . Maria I Stamou, Kirk T Smith, Hyunkyung Kim, Ravikumar Balasubramanian, Kathryn J Gray, Miriam Udl |
Activin type I receptor polymorphisms and body composition in older individuals with sarcopenia-Analyses from the LACE randomised controlled trial. PloS one 2023 11 18 (11): e0294330. Tufail Bashir, Marcus Achison, Simon Adamson, Asangaedem Akpan, Terry Aspray, Alison Avenell, Margaret M Band, Louise A Burton, Vera Cvoro, Peter T Donnan, Gordon W Duncan, Jacob George, Adam L Gordon, Celia L Gregson, Adrian Hapca, Cheryl Hume, Thomas A Jackson, Simon Kerr, Alixe Kilgour, Tahir Masud, Andrew McKenzie, Emma McKenzie, Harnish Patel, Kristina Pilvinyte, Helen C Roberts, Christos Rossios, Avan A Sayer, Karen T Smith, Roy L Soiza, Claire J Steves, Allan D Struthers, Divya Tiwari, Julie Whitney, Miles D Witham, Paul R Ke |
Frequency of Variants in Mendelian Alzheimer's Disease Genes within the Alzheimer's Disease Sequencing Project (ADSP). medRxiv : the preprint server for health sciences 2023 11 . Dongyu Wang, Alexandra Scalici, Yanbing Wang, Honghuang Lin, Achilleas Pitsillides, Nancy Heard-Costa, Carlos Cruchaga, Ellen Ziegemeier, Joshua C Bis, Myriam Fornage, Eric Boerwinkle, Philip L De Jager, Ellen Wijsman, Josée Dupuis, Alan E Renton, Sudha Seshadri, Alison Goate, , Anita L DeStefano, Gina M Pelo |
Association of Genetic Polymorphisms with Abdominal Aortic Aneurysm in the Processes of Apoptosis, Inflammation, and Cholesterol Metabolism. Medicina (Kaunas, Lithuania) 2023 10 59 (10): . Nyityasmono Tri Nugroho, Monika Herten, Giovanni F Torsello, Nani Osada, Elena Marchiori, Sonja Sielker, Giovanni B Torsel |
Rare DNAJC7 Variants May Play a Minor Role in Chinese Patients with ALS. Molecular neurobiology 2023 10 . Shichan Wang, Xiaoting Zheng, Qianqian Wei, Junyu Lin, Tianmi Yang, Yi Xiao, Qirui Jiang, Chunyu Li, Huifang Sha |
Association between fibrosis-related gene polymorphism and long-term allograft outcome in renal transplant recipients. BMC medical genomics 2023 10 16 (1): 255. Yu Yin, Han Zhang, Li Sun, Qianguang Han, Ming Zheng, Hao Chen, Shuang Fei, Ruoyun Tan, Xiaobing Ju, Zijie Wang, Min |
Interleukin-37: associations of plasma levels and genetic variants in gout. Arthritis research & therapy 2023 10 25 (1): 203. Lucie Andres Cerezo, Adéla Navrátilová, Hana Hulejová, Markéta Pavlíková, Jakub Závada, Karel Pavelka, Ladislav Šenolt, Blanka Stiburko |
Katdetectr: an R/bioconductor package utilizing unsupervised changepoint analysis for robust kataegis detection. GigaScience 2023 10 12 . Daan M Hazelaar, Job van Riet, Youri Hoogstrate, Harmen J G van de Werk |
Increased prevalence of CFTR variants and susceptibility to CRS: A real-world study based on Chinese children. Heliyon 2024 4 10 (7): e27681. Yang Han, Jinhao Zhao, Wenjing Liu, Xiaojian Yang, Wei Zhang, Xiao Xiao, Xiaoge Liu, Xiaoxu Chen, Lixing Tang, Pengpeng Wang, Wentong |
Association between FOXP3 polymorphisms and expression and neuromyelitis optica spectrum disorder risk in the Northern Chinese Han population. Translational neuroscience 2024 4 15 (1): 20220337. Jing Liu, Gaoning Wang, Jiahe Yang, Yulin Wang, Ruoyi Guo, Bin |
Genetic determinants of IgG antibody response to COVID-19 vaccination. American journal of human genetics 2024 1 111 (1): 181-199. Shengzhe Bian, Xinxin Guo, Xilai Yang, Yuandan Wei, Zijing Yang, Shiyao Cheng, Jiaqi Yan, Yongkun Chen, Guo-Bo Chen, Xiangjun Du, Stephen S Francis, Yuelong Shu, Siyang L |
A scalable and robust variance components method reveals insights into the architecture of gene-environment interactions underlying complex traits. bioRxiv : the preprint server for biology 2024 1 . Ali Pazokitoroudi, Andrew Dahl, Noah Zaitlen, Saharon Rosset, Sriram Sankararam |
COL11A1 is associated with developmental dysplasia of the hip and secondary osteoarthritis in the HUNT study. Osteoarthritis and cartilage open 2024 1 6 (1): 100424. Kaya Kvarme Jacobsen, Sigrid Børte, Lene Bjerke Laborie, Hege Kristiansen, Annette Schäfer, , Trude Gundersen, Tetyana Zayats, Bendik Kristoffer Slagsvold Winsvold, Karen Rosenda |
Compound heterozygous WNT10A missense variations exacerbated the tooth agenesis caused by hypohidrotic ectodermal dysplasia. BMC oral health 2024 1 24 (1): 136. Yiting Liu, Jing Sun, Caiqi Zhang, Yi Wu, Siyuan Ma, Xuechun Li, Xiaoshan Wu, Qingping G |
Short-term serial circulating tumor DNA assessment predicts therapeutic efficacy for patients with advanced pancreatic cancer. Journal of cancer research and clinical oncology 2024 1 150 (2): 35. Hideki Motobayashi, Yuji Kitahata, Ken-Ichi Okada, Motoki Miyazawa, Masaki Ueno, Shinya Hayami, Atsushi Miyamoto, Atsushi Shimizu, Masatoshi Sato, Tomohiro Yoshimura, Yuki Nakamura, Norio Takemoto, Tomoki Nakai, Takahiko Hyo, Kyohei Matsumoto, Hiroki Yamaue, Manabu Kaw |
Analysis of Somatic Mutations in the TCGA-LIHC Whole Exome Sequence to Identify the Neoantigen for Immunotherapy in Hepatocellular Carcinoma. Current issues in molecular biology 2024 1 46 (1): 106-120. Swetha Pulakuntla, Khajamohiddin Syed, Vaddi Damodara Red |
High Population Frequency of GNRHR p.Q106R in Malta: An Evaluation of Fertility and Hormone Profiles in Heterozygotes. Journal of the Endocrine Society 2024 1 8 (2): bvad172. Clayton John Axiak, Adrian Pleven, Ritienne Attard, Francesca Borg Carbott, Jean-Paul Ebejer, Ian Brincat, Karen Cassar, Mark Gruppetta, Josanne Vassallo, Stephanie Bezzina Wettinger, Rosienne Farrug |
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- Page last updated:Apr 16, 2024
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