Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 70 Records) |
Query Trace: RYR1[original query] |
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Bayesian modeling to predict malignant hyperthermia susceptibility and pathogenicity of RYR1, CACNA1S and STAC3 variants. Pharmacogenomics 2019 9 20 (14): 989-1003. Sadhasivam Senthilkumar, Brandom Barbara W, Henker Richard A, McAuliffe John |
An Assessment of Penetrance and Clinical Expression of Malignant Hyperthermia in Individuals Carrying Diagnostic Ryanodine Receptor 1 Gene Mutations. Anesthesiology 2019 Jun . Ibarra Moreno Carlos A, Hu Sally, Kraeva Natalia, Schuster Frank, Johannsen Stephan, Rueffert Henrik, Klingler Werner, Heytens Luc, Riazi Shei |
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service. Journal of neuromuscular diseases 2019 5 6 (2): 241-258. Westra Dineke, Schouten Meyke I, Stunnenberg Bas C, Kusters Benno, Saris Christiaan G J, Erasmus Corrie E, van Engelen Baziel G, Bulk Saskia, Verschuuren-Bemelmans Corien C, Gerkes E H, de Geus Christa, van der Zwaag P A, Chan Sophelia, Chung Brian, Barge-Schaapveld Daniela Q C M, Kriek Marjolein, Sznajer Yves, van Spaendonck-Zwarts Karin, van der Kooi Anneke J, Krause Amanda, Schönewolf-Greulich Bitten, de Die-Smulders Christine, Sallevelt Suzanne C E H, Krapels Ingrid P C, Rasmussen Magnhild, Maystadt Isabelle, Kievit Anneke J A, Witting Nanna, Pennings Maartje, Meijer Rowdy, Gillissen Christian, Kamsteeg Erik-Jan, Voermans Nicol |
Panel-Based Nuclear and Mitochondrial Next-Generation Sequencing Outcomes of an Ethnically Diverse Pediatric Patient Cohort with Mitochondrial Disease. The Journal of molecular diagnostics : JMD 2019 3 21 (3): 503-513. Schoonen Maryke, Smuts Izelle, Louw Roan, Elson Joanna L, van Dyk Etresia, Jonck Lindi-Maryn, Rodenburg Richard J T, van der Westhuizen Francois |
Whole exome sequencing revealed a pathogenic variant in a gene related to malignant hyperthermia in a Vietnamese cardiac surgical patient: A case report. Annals of medicine and surgery (2012) 2019 11 48 88-90. Nguyen Tran-Thuy, Le Ngoc-Thanh, Nguyen Thuy-Mau Thi, Nguyen Huy-Hoang, Nguyen Kim-Lien Thi, Dinh Long Doan, Nguyen The-Binh, Do Anh Tien, Nguyen Cong Huu, Nguyen Trung-Hieu, Pham Hong-Nhung Thi, Vu Thom T |
Association of Twelve Candidate Gene Polymorphisms with the Intramuscular Fat Content and Average Backfat Thickness of Chinese Suhuai Pigs. Animals : an open access journal from MDPI 2019 Oct 9 (11): . Wang Binbin, Li Pinghua, Zhou Wuduo, Gao Chen, Liu Hang, Li Huixia, Niu Peipei, Zhang Zongping, Li Qiang, Zhou Juan, Huang Ruih |
Next-generation sequencing and bioinformatics to identify genetic causes of malignant hyperthermia. Journal of the Formosan Medical Association = Taiwan yi zhi 2020 9 120 (2): 883-892. Yeh Huei-Ming, Liao Min-Hua, Chu Chun-Lin, Lin Yin-Hung, Sun Wei-Zen, Lai Ling-Ping, Chen Pei-Lu |
Functional analysis of newly identified RYR1 variants in patients susceptible to malignant hyperthermia. Journal of anesthesia 2020 6 34 (5): 658-665. Noda Yuko, Yasuda Toshimichi, Kanzaki Rieko, Miyoshi Hirotsugu, Mukaida Keiko, Kamiya Satoshi, Morio Atsushi, Hamada Hiroshi, Kawamoto Masashi, Tsutsumi Yasuo |
Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain. Genes 2020 5 11 (5): . Gonzalez-Quereda Lidia, Rodriguez Maria Jose, Diaz-Manera Jordi, Alonso-Perez Jorge, Gallardo Eduard, Nascimento Andres, Ortez Carlos, Natera-de Benito Daniel, Olive Montse, Gonzalez-Mera Laura, Munain Adolfo Lopez de, Zulaica Miren, Poza Juan Jose, Jerico Ivonne, Torne Laura, Riera Pau, Milisenda Jose, Sanchez Aurora, Garrabou Gloria, Llano Isabel, Madruga-Garrido Marcos, Gallano P |
Investigating the genetic susceptibility to exertional heat illness. Journal of medical genetics 2020 Feb . Gardner Lois, Miller Dorota M, Daly Catherine, Gupta Pawan K, House Carol, Roiz de Sa Daniel, Shaw Marie-Anne, Hopkins Philip |
BMI and malignant hyperthermia pathogenic ryanodine receptor type 1 sequence variants in Switzerland: A retrospective cohort analysis. European journal of anaesthesiology 2020 Nov . Gonzalez Asensio, Girard Thierry, Dell-Kuster Salome, Urwyler Albert, Bandschapp Oliv |
Discovering novel driver mutations from pan-cancer analysis of mutational and gene expression profiles. PloS one 2020 11 15 (11): e0242780. Tegally Houriiyah, Kensler Kevin H, Mungloo-Dilmohamud Zahra, Ghoorah Anisah W, Rebbeck Timothy R, Baichoo Shakunta |
[Genotype and phenotype analysis of neonates with neonatal encephalopathy complicated with perinatal hypoxic event]. Zhonghua er ke za zhi = Chinese journal of pediatrics 2021 3 59 (4): 280-285. Xiao T T, Yang L, Wu B B, Peng X M, Wang H J, Cheng G Q, Wang L S, Cao Y, Hu L Y, Zhou W |
Relevance of pathogenicity prediction tools in human RYR1 variants of unknown significance. Scientific reports 2021 2 11 (1): 3445. Hoppe Kerstin, Jurkat-Rott Karin, Kranepuhl Stefanie, Wearing Scott, Heiderich Sebastian, Merlak Sonja, Klingler Wern |
CSMD3 is Associated with Tumor Mutation Burden and Immune Infiltration in Ovarian Cancer Patients. International journal of general medicine 2021 14 7647-7657. Lu Nan, Liu Jinhui, Xu Mengting, Liang Jianqiang, Wang Yichun, Wu Zhipeng, Xing Yan, Diao Feiya |
Rapid screening for mutations associated with malignant hyperthermia using high-resolution melting curve analysis. Tzu chi medical journal 2021 11 33 (4): 399-405. Su I-Min, Wang Po-Kai, Chen Chun-Yu, Huang Hsien-Tse, Day Yuan- |
Mutational and clinical spectrum of centronuclear myopathy in 9 cases and a literature review of Chinese patients. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2021 10 43 (4): 2803-2811. Wang Qi, Yu Meng, Xie Zhiying, Liu Jing, Wang Qingqing, Lv He, Zhang Wei, Yuan Yun, Wang Zhaox |
The ryanodine receptor mutational characteristics and its indication for cancer prognosis. Scientific reports 2022 9 12 (1): 16113. Wang Fenglin, Yu Jingbo, Lin Ping, Sigalas Charalampos, Zhang Shibo, Gong Yuan, Sitsapesan Rebecca, Song Le |
Whole exome sequencing reveals novel risk genes of pituitary neuroendocrine tumors. PloS one 2022 8 17 (8): e0265306. Peculis Raitis, Rovite Vita, Megnis Kaspars, Balcere Inga, Breiksa Austra, Nazarovs Jurijs, Stukens Janis, Konrade Ilze, Sokolovska Jelizaveta, Pirags Valdis, Klovins Jan |
Ryanodine receptor (RYR) mutational status correlates with tumor mutational burden, age and smoking status and stratifies non-small cell lung cancer patient prognosis. Translational cancer research 2022 Jul 11 (7): 2070-2083. Wang Yang, Chen Yun, Zhang Libin, Xiong Jian, Xu Lele, Cheng Changfu, Xu Zheyu |
Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population. Genes 2022 6 13 (6): . Cerino Mathieu, González-Hormazábal Patricio, Abaji Mario, Courrier Sebastien, Puppo Francesca, Mathieu Yves, Trangulao Alejandra, Earle Nicholas, Castiglioni Claudia, Díaz Jorge, Campero Mario, Hughes Ricardo, Vargas Carmen, Cortés Rocío, Kleinsteuber Karin, Acosta Ignacio, Urtizberea J Andoni, Lévy Nicolas, Bartoli Marc, Krahn Martin, Jara Lilian, Caviedes Pablo, Gorokhova Svetlana, Bevilacqua Jorge |
Correlation of Phenotype-Genotype and Protein Structure in RYR1-Related Myopathy. Frontiers in neurology 2022 6 13 870285. Chang Xingzhi, Wei Risheng, Wei Cuijie, Liu Jieyu, Qin Lun, Yan Hui, Ma Yinan, Wang Zhaoxia, Xiong H |
Identification of the Immune Signatures for Ovarian Cancer Based on the Tumor Immune Microenvironment Genes. Frontiers in cell and developmental biology 2022 4 10 772701. Shen Xiaoyan, Gu Xiao, Ma Ruiqiong, Li Xiaoping, Wang Jianl |
Variant landscape of the RYR1 gene based on whole genome sequencing of the Singaporean population. Scientific reports 2022 4 12 (1): 5429. Foo Claribel Tian Yu, To Yi Hui, Irwanto Astrid, Ng Alvin Yu-Jin, Yan Benedict, Chew Sophia Tsong Huey, Liu Jianjun, Ti Lian K |
Clinical Characteristics and Pathogenic Gene Identification in Chinese Patients With Paget's Disease of Bone. Frontiers in endocrinology 2022 3 13 850462. Tao Xiaohui, Liu Li, Yang Xingguang, Wei Zhe, Chen Zhongzhong, Zhang Ge, Zhang Zhenlin, Yue H |
Referral Indications for Malignant Hyperthermia Susceptibility Diagnostics in Patients without Adverse Anesthetic Events in the Era of Next-generation Sequencing. Anesthesiology 2022 3 136 (6): 940-953. van den Bersselaar Luuk R, Hellblom Anna, Gashi Mejdan, Kamsteeg Erik-Jan, Voermans Nicol C, Jungbluth Heinz, de Puydt Joris, Heytens Luc, Riazi Sheila, Snoeck Marc M |
Genotypic and phenotypic landscapes of 51 pharmacogenes derived from whole-genome sequencing in a Thai population. PloS one 2022 17 (2): e0263621. Wankaew Natnicha, Chariyavilaskul Pajaree, Chamnanphon Monpat, Assawapitaksakul Adjima, Chetruengchai Wanna, Pongpanich Monnat, Shotelersuk Voras |
Functional analysis of RYR1 variants in patients with confirmed susceptibility to malignant hyperthermia. British journal of anaesthesia 2022 10 129 (6): 879-888. White Ruth, Schiemann Anja H, Burling Sophie M, Bjorksten Andrew, Bulger Terasa, Gillies Robyn, Hopkins Philip M, Kamsteeg Erik-Jan, Machon Roslyn G, Massey Sean, Miller Dorota, Perry Margaret, Snoeck Marc M J, Stephens Jeremy, Street Neil, van den Bersselaar Luuk R, Stowell Kathryn |
Identification of methyltransferase modification genes associated with prognosis and immune features of pancreatic adenocarcinoma. Molecular and cellular probes 2023 2 67 101897. Wang Wentao, Zhang Dongyuan, Chang Donglei, Li Yupeng, Ren L |
Comparison of Literature Mining Tools for Variant Classification: Through the Lens of Fifty RYR1 Variants. Genetics in medicine : official journal of the American College of Medical Genetics 2024 1 101083. Zara Wermers, Seeley Yoo, Bailey Radenbaugh, Amber Douglass, Leslie G Biesecker, Jennifer J Johnst |
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- Page last updated:Apr 22, 2024
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