Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 845 Records) |
Query Trace: Genomic medicine[original query] |
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Frequency of actionable secondary findings in 7472 Korean genomes derived from the National Project of Bio Big Data pilot study. Human genetics 2023 9 . Youngjun Kim, Jeong-Min Kim, Hye-Won Cho, Hyun-Young Park, Mi-Hyun Pa |
Congenital central hypoventilation syndrome in Chinese population: Analysis of three new cases and review of the literature. Molecular genetics & genomic medicine 2023 9 e2267. Yaoyao Wang, Lina Wang, Xiaoying Chen, Shiguo Liu, Wei Han, Xinjuan Yu, Xipeng Cao, Xiuxiang Liu, Jiahui Wa |
In silico validation revealed the role of SCN5A mutations and their genotype-phenotype correlations in Brugada syndrome. Molecular genetics & genomic medicine 2023 8 e2263. Hung Manh Pham, Duy Phuong Nguyen, Thanh Dat Ta, Thi Phuong Le, Phong Hai Phan, Hoai An Trinh, Tuan Viet Tran, Thi Lan Anh Luong, Ha Minh Nguyen, The-Hung Bui, Thinh Huy Tran, Thanh Van Ta, Van-Khanh Tr |
Exome sequencing findings in children with annular pancreas. Molecular genetics & genomic medicine 2023 8 e2233. Georgia Pitsava, Nathan Pankratz, John Lane, Wei Yang, Shannon Rigler, Gary M Shaw, James L Mil |
Phenotypic and genetic characteristics of 24 cases of early infantile epileptic encephalopathy in East China, including a rare case of biallelic UGDH mutations. Molecular genetics & genomic medicine 2023 8 e2269. Liangliang Jiang, Shaohua Bi, Li Lin, Fan He, Fang De |
Rare functional variants in the CRP and G6PC genes modify the relationship between obesity and serum C-reactive protein in white British population. Molecular genetics & genomic medicine 2023 7 e2255. Xia Li, Alexander Ploner, Yunzhang Wang, Jonathan K L Mak, Yi Lu, Patrik K E Magnusson, Juulia Jylhävä, Sara Hä |
Progress report of a cross-organ and biomarker-based basket-type clinical trial: BELIEVE Trial. Cancer science 2023 12 . Yayoi Ando, Tatsunori Shimoi, Kuniko Sunami, Natsuko Okita, Kenichi Nakamura, Taro Shibata, Yasuhiro Fujiwara, Noboru Yamamo |
Mutation spectrum of thalassemia among pre-pregnant adults in the Jiangsu Province by capillary electrophoresis-based multiplex PCR assay. Molecular genetics & genomic medicine 2023 12 e2344. Binbin Shao, Yuguo Wang, Jingjing Zhang, Yan Wang, Juan Tan, Lulu Wang, Ping Hu, Jianxin Tan, Zhengfeng |
Germline mutations in pediatric cancer cohort with mixed-ancestry Mexicans. Molecular genetics & genomic medicine 2023 12 e2332. Oscar Alonso-Luna, Gabriela E Mercado-Celis, Jorge Melendez-Zajgla, Rodrigo Barquera, Marta Zapata-Tarres, Luis Enrique Juárez-Villegas, Elvia Cristina Mendoza-Caamal, Elianeth Rey-Helo, Socorro Aida Borges-Yañ |
Genetic screening of 15 hearing loss variants in 77,647 neonates with clinical follow-up. Molecular genetics & genomic medicine 2023 12 e2324. Lin Kun, Huang Jiexiang, Lin Hua, Han Junlin, Ruan Yijun, Zhang Lixian, Chen Mingqi |
Height of non-Hispanic white adults with homeostatic iron regulator HFE genotypes p.C282Y/p.C282Y and wt/wt. Molecular genetics & genomic medicine 2023 11 e2321. James C Barton, J Clayborn Barton, Ronald T Act |
The miRNA variants MIR196A2 (rs11614913) and MIR423 (rs6505162) contribute to an increase in the risk of myocardial infarction. Molecular genetics & genomic medicine 2023 11 e2323. Muhammad Uzair, Taqweem Ul Haq, Sajjad Ali, Manzar Hussain, Fazal Jalil, Yasir Ali, Aftab Ali Sh |
Whole exome sequencing reveals novel candidate variants for endometriosis utilizing multiple affected members in a single family. Molecular genetics & genomic medicine 2023 11 e2312. Busra Gizem Kina, Nura Fitnat Topbas Selcuki, Pinar Yalcin Bahat, Taner Usta, Sevcan Aydin, Nilufer Rahmioglu, Feyza Nur Tuncer, Engin Or |
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 |
Haptoglobin gene polymorphism and iron profile in sickle cell disease patients with inflammation in Yaounde, Cameroon. Molecular genetics & genomic medicine 2023 11 e2302. Romaric De Manfouo Tuono, Josué Louokdom Simo, Prosper Cabral Biapa Nya, Jean Paul Chedjou, Christian Bernard Kengne Fotsing, Bernard Claude Chetcha, Calvino Fomboh Tah, Claude Tagny Tayou, Wilfried Fon Mbatcham, Constant Anatole Pie |
Association of KDR (rs2071559, rs1870377), CFH (rs1061170, rs1410996) genes variants and serum levels with pituitary adenoma. Molecular genetics & genomic medicine 2023 10 e2289. Akvile Bruzaite, Greta Gedvilaite, Loresa Kriauciuniene, Rasa Liutkevicie |
Gender-dependent multiple cross-phenotype association of interferon lambda genetic variants with peripheral blood profiles in healthy individuals. Molecular genetics & genomic medicine 2023 10 e2292. Debarati Guha Roy, Lucky Singh, Himanshu K Chaturvedi, Sreedhar Chinnaswa |
Recurrent human 16p11.2 microdeletions in type I Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome patients in Chinese Han population. Molecular genetics & genomic medicine 2023 10 e2280. Kaizhen Su, Han Liu, Xiaoqun Ye, Hangmei Jin, Zhenwei Xie, Chunbo Yang, Daizhan Zhou, Hefeng Huang, Yanting |
RAF1 mutation leading to hypertrophic cardiomyopathy in a Chinese family with a history of sudden cardiac death: A diagnostic insight into Noonan syndrome. Molecular genetics & genomic medicine 2023 10 e2290. Jingjing Zheng, Longyun Peng, Ruofei Cheng, Zhiyan Li, Jianjie Xie, Erwen Huang, Jianding Cheng, Qianhao Zh |
Rare predicted loss of function alleles in Bassoon (BSN) are associated with obesity. NPJ genomic medicine 2023 10 8 (1): 33. Na Zhu, Charles A LeDuc, Ilene Fennoy, Blandine Laferrère, Claudia A Doege, Yufeng Shen, Wendy K Chung, Rudolph L Leib |
Population-based prevalence and mutational landscape of von Willebrand disease using large-scale genetic databases. NPJ genomic medicine 2023 10 8 (1): 31. Omid Seidizadeh, Andrea Cairo, Luciano Baronciani, Luca Valenti, Flora Peyvan |
Identification and validation of a novel anoikis-related prognostic model for prostate cancer. Molecular genetics & genomic medicine 2024 4 12 (4): e2419. Peipei Zhang, Wenzhi Lv, Yang Luan, Wei Cai, Xiangde Min, Zhaoyan Fe |
Mother's smoking habits affects IL10 methylation but not asthma in Ecuadorian children. Molecular genetics & genomic medicine 2024 4 12 (4): e2438. Cristina Ochoa-Avilés, Angélica Ochoa-Avilés, Roque Rivas-Párraga, Samuel Escandón, Talita Dos Santos-Jesus, Milca de J Silva, Valderiene Leão, Marco Salinas, Yosselin Vicuña, Lucy Baldeón, María José Molina-Cando, Diana Morillo, Marcos Machuca, Claudia Rodas, Camila Figueiredo, Vivian Alejandra Nei |
Association of a genetic variant in angiopoietin-like 3 with serum HDL-C and risk of cardiovascular disease: A study of the MASHAD cohort over 6?years. Molecular genetics & genomic medicine 2024 4 12 (4): e2418. Malihe Aghasizadeh, Asieh Ahmadi Hoseini, Reza Sahebi, Tooba Kazemi, Parisa Asadiyan-Sohan, Habibollah Esmaily, Sara Samadi, Amir Avan, Gordon A Ferns, Saeede Khosravi, Hamideh Ghazizadeh, Ebrahim Miri-Moghaddam, Majid Ghayour-Mobarh |
Mutation profiling in South African patients with Cornelia de Lange syndrome phenotype. Molecular genetics & genomic medicine 2024 1 12 (1): e2342. Heather Seymour, Candice Feben, Patracia Nevondwe, Robyn Kerr, Careni Spencer, Maria Mudau, Engela Honey, Zane Lombard, Amanda Krause, Nadia Carste |
Genotype-phenotype correlations in carriers of the PMS2 founder variant c.1831dup. Molecular genetics & genomic medicine 2024 1 12 (1): e2360. Melanie Gass, Britta Seebauer, Aline Thommen, Alexandra Fischler, Karl Heinima |
Genetic and functional variants of the TBX20 gene promoter in dilated cardiomyopathy. Molecular genetics & genomic medicine 2024 1 12 (1): e2355. Xue Gao, Shuchao Pang, Liangcai Ding, Han Yan, Yinghua Cui, Bo Y |
Newly discovered variants in unexplained neonatal encephalopathy. Molecular genetics & genomic medicine 2024 1 12 (1): e2354. Rong Zhang, Jingjing Xie, Xiao Yuan, Yan Yu, Yan Zhuang, Fan Zhang, Jianfei Hou, Yanqin Liu, Weiqing Huang, Min Zhang, Junshuai Li, Qiang Gong, Xiaoming Pe |
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 |
Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study. Orphanet journal of rare diseases 2024 1 19 (1): 15. Michelle Bisschoff, Izelle Smuts, Marli Dercksen, Maryke Schoonen, Barend C Vorster, George van der Watt, Careni Spencer, Kireshnee Naidu, Franclo Henning, Surita Meldau, Robert McFarland, Robert W Taylor, Krutik Patel, Mahmoud R Fassad, Jana Vandrovcova, , Ronald J A Wanders, Francois H van der Westhuiz |
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- Page last updated:Apr 29, 2024
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