Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 3502 Records) |
Query Trace: Whole exome sequencing [original query] |
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Association of Genetic Variants with Postoperative Donor Artery Development in Moyamoya Disease: RNF213 and Other Moyamoya Angiopathy-Related Gene Analysis. Translational stroke research 2024 4 . Seiei Torazawa, Satoru Miyawaki, Hideaki Imai, Hiroki Hongo, Hideaki Ono, Shotaro Ogawa, Yu Sakai, Satoshi Kiyofuji, Satoshi Koizumi, Daisuke Komura, Hiroto Katoh, Shumpei Ishikawa, Nobuhito Sai |
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 |
Alcohol and colorectal cancer risk subclassified by mutational signatures of DNA mismatch repair deficiency. Journal of the National Cancer Institute 2024 4 . Aiping Fang, Tomotaka Ugai, Carino Gurjao, Rong Zhong, Zhenhua Liu, Xinyuan Zhang, Peilu Wang, Jonathan Nowak, Molin Wang, Marios Giannakis, Shuji Ogino, Xuehong Zhang, Edward Giovannuc |
Rev1 overexpression accelerates N-methyl-N-nitrosourea (MNU)-induced thymic lymphoma by increasing mutagenesis. Cancer science 2024 4 . Megumi Sasatani, Yang Xi, Kazuhiro Daino, Atsuko Ishikawa, Yuji Masuda, Junko Kajimura, Jinlian Piao, Elena Karamfilova Zaharieva, Hiroaki Honda, Guanyu Zhou, Kanya Hamasaki, Yoichiro Kusunoki, Tsutomu Shimura, Shizuko Kakinuma, Yoshiya Shimada, Kazutaka Doi, Tomoko Ishikawa-Fujiwara, Yusuke Sotomaru, Kenji Kami |
Identification of a de novo CACNA1B variant and a start-loss ADRA2B variant in paroxysmal kinesigenic dyskinesia. Heliyon 2024 4 10 (7): e28674. Zhuangzhuang Yuan, Qian Wang, Chenyu Wang, Yuxing Liu, Liangliang Fan, Yihui Liu, Hao Hua |
[Prenatal diagnosis of a case with Congenital myasthenic syndrome due to compound heterozygous variants of SCN4A gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2024 4 41 (4): 450-455. Fanrong Meng, Yunfang Shi, Duan Ju, Xiuyan Wang, Haiwei Dong, Xuebing Li, Xiaozhou Li, Xuexia Zh |
HLA-DRB1 is associated with cefaclor-induced immediate hypersensitivity. The World Allergy Organization journal 2024 4 17 (5): 100901. So-Young Park, So Young Park, Sujin Seo, Hyouk-Soo Kwon, Seung-Hyun Kim, Sae-Hoon Kim, Hye-Kyung Park, Yoon-Seok Chang, Cheol-Woo Kim, Byung Jae Lee, Hae-Sim Park, You Sook Cho, Heung-Bum Oh, David A Ostrov, Sungho Won, Tae Bum K |
Mutational landscape of inflammatory breast cancer. Journal of translational medicine 2024 4 22 (1): 374. François Bertucci, Florence Lerebours, Michele Ceccarelli, Arnaud Guille, Najeeb Syed, Pascal Finetti, José Adélaïde, Steven Van Laere, Anthony Goncalves, Patrice Viens, Daniel Birnbaum, Emilie Mamessier, Céline Callens, Davide Bedognet |
Genetic Variants Associated with the Risk of Stroke in Sickle Cell Anemia: Systematic Review and Meta-Analysis. Hemoglobin 2024 4 48 (2): 101-112. Aradhana Kumari, Ganesh Chauhan, Partha Kumar Chaudhuri, Sushma Kumari, Anupa Pras |
Predictors of genetic diagnosis in individuals with developmental and epileptic encephalopathies. Epilepsy & behavior : E&B 2024 4 155 109762. Maria Luiza Benevides, Helena T de Moraes, Diana M M Granados, Luciana C Bonadia, Letícia Sauma, Maria Augusta Montenegro, Marilisa M Guerreiro, Íscia Lopes-Cendes, Ana Carolina Co |
The proprotein convertase FURIN is a novel aneurysm predisposition gene impairing TGF-? signaling. Cardiovascular research 2024 4 . Zongsheng He, Arne S IJpma, Dianne Vreeken, Daphne Heijsman, Karen Rosier, Hence J M Verhagen, Jorg de Bruin, Hennie T Brüggenwirth, Jolien W Roos-Hesselink, Jos A Bekkers, Danny Huylebroeck, Heleen van Beusekom, John W M Creemers, Danielle Majoor-Krakau |
Clinical phenotype of a Kallmann syndrome patient with IL17RD and CPEB4 variants. Frontiers in endocrinology 2024 4 15 1343977. Jianmei Zhang, Suhong Yang, Yan Zhang, Fei Liu, Lili Hao, Lianshu H |
Integrated mutational landscape analysis of poorly differentiated high-grade neuroendocrine carcinoma of the uterine cervix. Proceedings of the National Academy of Sciences of the United States of America 2024 4 121 (17): e2321898121. Stefania Bellone, Kyungjo Jeong, Mari Kyllesø Halle, Camilla Krakstad, Blair McNamara, Michelle Greenman, Levent Mutlu, Cem Demirkiran, Tobias Max Philipp Hartwich, Yang Yang-Hartwich, Margherita Zipponi, Natalia Buza, Pei Hui, Francesco Raspagliesi, Salvatore Lopez, Biagio Paolini, Massimo Milione, Emanuele Perrone, Giovanni Scambia, Gary Altwerger, Antonella Ravaggi, Eliana Bignotti, Gloria S Huang, Vaagn Andikyan, Mitchell Clark, Elena Ratner, Masoud Azodi, Peter E Schwartz, Charles M Quick, Roberto Angioli, Corrado Terranova, Samir Zaidi, Shuvro Nandi, Ludmil B Alexandrov, Eric R Siegel, Jungmin Choi, Joseph Schlessinger, Alessandro D Sant |
Beyond basics: Key mutation selection features for successful tumor-informed ctDNA detection. International journal of cancer 2024 4 . Marijana Nesic, Mads H Rasmussen, Tenna V Henriksen, Christina Demuth, Amanda Frydendahl, Iver Nordentoft, Lars Dyrskjøt, Claus L Anders |
Clinical and molecular heterogeneity associated with tumor sidedness in colorectal liver metastasis: a multicenter propensity cohort study. Hepatobiliary surgery and nutrition 2024 4 13 (2): 214-228. Yibin Wu, Jiamin Zhou, Huipeng Wang, Guojiu Fang, Weiping Zhu, Sanjun Cai, Lu Wa |
RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses. The Lancet. Neurology 2024 4 . Emil K Gustavsson, Jordan Follett, Joanne Trinh, Sandeep K Barodia, Raquel Real, Zhiyong Liu, Melissa Grant-Peters, Jesse D Fox, Silke Appel-Cresswell, A Jon Stoessl, Alex Rajput, Ali H Rajput, Roland Auer, Russel Tilney, Marc Sturm, Tobias B Haack, Suzanne Lesage, Christelle Tesson, Alexis Brice, Carles Vilariño-Güell, Mina Ryten, Matthew S Goldberg, Andrew B West, Michele T Hu, Huw R Morris, Manu Sharma, Ziv Gan-Or, Bedia Samanci, Pawel Lis, Maria Teresa Periñan, Rim Amouri, Samia Ben Sassi, Faycel Hentati, , Francesca Tonelli, Dario R Alessi, Matthew J Farr |
Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods. Orphanet journal of rare diseases 2024 4 19 (1): 159. Yupeng Liu, Xue Ma, Zhehui Chen, Ruxuan He, Yao Zhang, Hui Dong, Yanyan Ma, Tongfei Wu, Qiao Wang, Yuan Ding, Xiyuan Li, Dongxiao Li, Jinqing Song, Mengqiu Li, Ying Jin, Jiong Qin, Yanling Ya |
Genetic analysis of 37 cases with primary periodic paralysis in Chinese patients. Orphanet journal of rare diseases 2024 4 19 (1): 160. Xuechao Zhao, Haofeng Ning, Lina Liu, Chaofeng Zhu, Yinghui Zhang, Guifang Sun, Huanan Ren, Xiangdong Ko |
A cross-trait study of lung cancer and its related respiratory diseases based on large-scale exome sequencing population. Translational lung cancer research 2024 4 13 (3): 512-525. Yunke Jiang, Hongru Li, Zaiming Li, Sha Du, Ruyang Zhang, Yang Zhao, David C Christiani, Sipeng Shen, Feng Ch |
Pediatric-type high-grade gliomas with PDGFRA amplification in adult patients with Li-Fraumeni syndrome: clinical and molecular characterization of three cases. Acta neuropathologica communications 2024 4 12 (1): 57. Yuji Kibe, Fumiharu Ohka, Kosuke Aoki, Junya Yamaguchi, Kazuya Motomura, Eiji Ito, Kazuhito Takeuchi, Yuichi Nagata, Satoshi Ito, Nobuhiko Mizutani, Yoshiki Shiba, Sachi Maeda, Tomohide Nishikawa, Hiroki Shimizu, Ryuta Sai |
Histologic and Genomic Analysis of Conjunctival SCC in African and American Cohorts Reveal UV Light and HPV Signatures and High Tumor Mutation Burden. Investigative ophthalmology & visual science 2024 4 65 (4): 24. Frederico O Gleber-Netto, Priyadharsini Nagarajan, Oded Sagiv, Curtis R Pickering, Neil Gross, Jing Ning, Melisachew M Yeshi, Yonas Mitku, Michael T Tetzlaff, Bita Esmae |
Whole exome sequencing and polygenic assessment of a Swedish cohort with severe developmental language disorder. Human genetics 2024 2 . Ashraf Yahia, Danyang Li, Sanna Lejerkrans, Shyam Rajagopalan, Nelli Kalnak, Kristiina Tammimi |
Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families. Neurogenetics 2024 1 . Sylvia Safwat, Kyle P Flannery, Ahmed A El Beheiry, Mohamed M Mokhtar, Ebtesam Abdalla, M Chiara Manzi |
Tislelizumab plus nimotuzumab is effective against recurrent or metastatic oral squamous cell carcinoma among patients with a performance status score ? 2: a retrospective study. Frontiers in oncology 2024 1 13 1273798. Wen-Jie Wu, Pu-Gen An, Yi-Wei Zhong, Xiao Hu, Lin Wang, Jie Zha |
Clinical and Genetic Spectrum in a Large Cohort of Hereditary Spastic Paraplegia. Movement disorders : official journal of the Movement Disorder Society 2024 1 . Yuwen Cao, Haoran Zheng, Zeyu Zhu, Li Yao, Wotu Tian, Li C |
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 |
A pathogenic variant in RAB32 causes autosomal dominant Parkinson's disease and activates LRRK2 kinase. medRxiv : the preprint server for health sciences 2024 1 . Emil K Gustavsson, Jordan Follett, Joanne Trinh, Sandeep K Barodia, Raquel Real, Zhiyong Liu, Melissa Grant-Peters, Jesse D Fox, Silke Appel-Cresswell, A Jon Stoessl, Alex Rajput, Ali H Rajput, Roland Auer, Russel Tilney, Marc Sturm, Tobias B Haack, Suzanne Lesage, Christelle Tesson, Alexis Brice, Carles Vilariño-Güell, Mina Ryten, Matthew S Goldberg, Andrew B West, Michele T Hu, Huw R Morris, Manu Sharma, Ziv Gan-Or, Bedia Samanci, Pawel Lis, Teresa Tocino, Rim Amouri, Samia Ben Sassi, Faycel Hentati, , Francesca Tonelli, Dario R Alessi, Matthew J Farr |
Genomic heterogeneity at baseline is associated with T790M resistance mutations in EGFR-mutated lung cancer treated with the first-/second-generation tyrosine kinase inhibitors. The journal of pathology. Clinical research 2024 1 10 (2): e354. Michael Menzel, Martina Kirchner, Klaus Kluck, Markus Ball, Susanne Beck, Michael Allgäuer, Christin Assmann, Johannes Schnorbach, Anna-Lena Volckmar, Timothy Kwang Yong Tay, Hannah Goldschmid, Daniel Sw Tan, Michael Thomas, Daniel Kazdal, Jan Budczies, Albrecht Stenzinger, Petros Christopoul |
Utilizing Pharmacogenomic Data for a Safer Use of Statins among the Emirati Population. Current vascular pharmacology 2024 1 . Mais N Alqasrawi, Zeina N Al-Mahayri, Hiba Alblooshi, Habiba Alsafar, Bassam R A |
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 |
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- Page last updated:Apr 22, 2024
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