HuGE Literature Finder
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| Leveraging TOPMed imputation server and constructing a cohort-specific imputation reference panel to enhance genotype imputation among cystic fibrosis patients. HGG advances 2022 Apr 3 (2): 100090. Sun Quan, Liu Weifang, Rosen Jonathan D, Huang Le, Pace Rhonda G, Dang Hong, Gallins Paul J, Blue Elizabeth E, Ling Hua, Corvol Harriet, Strug Lisa J, Bamshad Michael J, Gibson Ronald L, Pugh Elizabeth W, Blackman Scott M, Cutting Garry R, O'Neal Wanda K, Zhou Yi-Hui, Wright Fred A, Knowles Michael R, Wen Jia, Li Yun, |
| Challenges at the APOE locus: a robust quality control approach for accurate APOE genotyping. Alzheimer's research & therapy 2022 Feb 14 (1): 22. Belloy Michael E, Eger Sarah J, Le Guen Yann, Damotte Vincent, Ahmad Shahzad, Ikram M Arfan, Ramirez Alfredo, Tsolaki Anthoula C, Rossi Giacomina, Jansen Iris E, de Rojas Itziar, Parveen Kayenat, Sleegers Kristel, Ingelsson Martin, Hiltunen Mikko, Amin Najaf, Andreassen Ole, Sánchez-Juan Pascual, Kehoe Patrick, Amouyel Philippe, Sims Rebecca, Frikke-Schmidt Ruth, van der Flier Wiesje M, Lambert Jean-Charles, , He Zihuai, Han Summer S, Napolioni Valerio, Greicius Michael |
| Potential role of regulatory DNA variants in modifying the risk of severe cutaneous reactions induced by aromatic anti-seizure medications. Epilepsia 2022 Feb . Mullan Kerry A, Anderson Alison, Shi Yi-Wu, Ding Jia-Hong, Ng Ching-Ching, Chen Zhibin, Baum Larry, Cherny Stacey, Petrovski Slave, Sham Pak C, Lim Kheng-Seang, Liao Wei-Ping, Kwan Patri |
| Rare coding variants in RCN3 are associated with blood pressure. BMC genomics 2022 Feb 23 (1): 148. He Karen Y, Kelly Tanika N, Wang Heming, Liang Jingjing, Zhu Luke, Cade Brian E, Assimes Themistocles L, Becker Lewis C, Beitelshees Amber L, Bielak Lawrence F, Bress Adam P, Brody Jennifer A, Chang Yen-Pei Christy, Chang Yi-Cheng, de Vries Paul S, Duggirala Ravindranath, Fox Ervin R, Franceschini Nora, Furniss Anna L, Gao Yan, Guo Xiuqing, Haessler Jeffrey, Hung Yi-Jen, Hwang Shih-Jen, Irvin Marguerite Ryan, Kalyani Rita R, Liu Ching-Ti, Liu Chunyu, Martin Lisa Warsinger, Montasser May E, Muntner Paul M, Mwasongwe Stanford, Naseri Take, Palmas Walter, Reupena Muagututi'a Sefuiva, Rice Kenneth M, Sheu Wayne H-H, Shimbo Daichi, Smith Jennifer A, Snively Beverly M, Yanek Lisa R, Zhao Wei, Blangero John, Boerwinkle Eric, Chen Yii-Der Ida, Correa Adolfo, Cupples L Adrienne, Curran Joanne E, Fornage Myriam, He Jiang, Hou Lifang, Kaplan Robert C, Kardia Sharon L R, Kenny Eimear E, Kooperberg Charles, Lloyd-Jones Donald, Loos Ruth J F, Mathias Rasika A, McGarvey Stephen T, Mitchell Braxton D, North Kari E, Peyser Patricia A, Psaty Bruce M, Raffield Laura M, Rao D C, Redline Susan, Reiner Alex P, Rich Stephen S, Rotter Jerome I, Taylor Kent D, Tracy Russell, Vasan Ramachandran S, , Morrison Alanna C, Levy Daniel, Chakravarti Aravinda, Arnett Donna K, Zhu Xiaofe |
| Revealing the Mutational Spectrum in Southern Africans With Amyotrophic Lateral Sclerosis. Neurology. Genetics 2022 Feb 8 (1): e654. Nel Melissa, Mahungu Amokelani C, Monnakgotla Nomakhosazana, Botha Gerrit R, Mulder Nicola J, Wu Gang, Rampersaud Evadnie, van Blitterswijk Marka, Wuu Joanne, Cooley Anne, Myers Jason, Rademakers Rosa, Taylor J Paul, Benatar Michael, Heckmann Jeannine |
| 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 |
| A functional variant of SHARPIN confers increased risk of late-onset Alzheimer's disease. Journal of human genetics 2021 Nov . Asanomi Yuya, Shigemizu Daichi, Akiyama Shintaro, Miyashita Akinori, Mitsumori Risa, Hara Norikazu, Ikeuchi Takeshi, Niida Shumpei, Ozaki Kouic |
| Association of AXIN1 With Parkinson's Disease in a Taiwanese Population. Journal of movement disorders 2021 Nov . Fang Hwa-Shin, Chao Chih-Ying, Wang Chun-Chieh, Fan Wen-Lang, Huang Po-Jung, Fung Hon-Chung, Wu Yih- |
| Background sensitivity to chemotherapy-induced nausea and vomiting and response to antiemetics in paediatric patients: a genetic association study. Pharmacogenetics and genomics 2021 Nov . Eliasen Astrid, Kornholt Jonatan, Mathiasen René, Wadt Karin, Stoltze Ulrik, Brok Jesper, Rechnitzer Catherine, Schmiegelow Kjeld, Dalhoff K |
| Short NK and naïve T-cell telomere length is associated with thyroid cancer in childhood cancer survivors: A report from the Childhood Cancer Survivor Study. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2021 Nov . Man Tsz-Kwong, Aubert Geraldine, Richard Melissa A, LeJeune Wanda, Hariri Elmira, Goltsova Tatiana, Gaikwad Amos, Chen Yan, Whitton Jillian, Leisenring Wendy M, Arnold Michael A, Neglia Joseph P, Yasui Yutaka, Robison Leslie L, Armstrong Gregory T, Bhatia Smita, Gramatges Maria |
| A multi-ethnic whole genome sequencing study to identify novel loci for bone mineral density. Human molecular genetics 2021 Oct . Greenbaum Jonathan, Su Kuan-Jui, Zhang Xiao, Liu Yong, Liu Anqi, Zhao Lan-Juan, Luo Zhe, Tian Qing, Shen Hui, Deng Hong-W |
| An Investigation of the Role of Common and Rare Variants in a Large Italian Multiplex Family of Multiple Sclerosis Patients. Genes 2021 Oct 12 (10): . Barizzone Nadia, Cagliani Rachele, Basagni Chiara, Clarelli Ferdinando, Mendozzi Laura, Agliardi Cristina, Forni Diego, Tosi Martina, Mascia Elisabetta, Favero Francesco, Corà Davide, Corrado Lucia, Sorosina Melissa, Esposito Federica, Zuccalà Miriam, Vecchio Domizia, Liguori Maria, Comi Cristoforo, Comi Giancarlo, Martinelli Vittorio, Filippi Massimo, Leone Maurizio, Martinelli-Boneschi Filippo, Caputo Domenico, Sironi Manuela, Guerini Franca Rosa, D'Alfonso Sand |
A genome-wide association meta-analysis identifies new Eosinophilic esophagitis loci.
The Journal of allergy and clinical immunology 2021 Sep . Chang Xiao, March Michael, Mentch Frank, Nguyen Kenny, Glessner Joseph, Qu Huiqi, Liu Yichuan, Furuta Glen, Aceves Seema, Gonsalves Nirmala, Nadeau Kari, Cianferoni Antonella, Spergel Jonathan, Sleiman Patrick, Hakonarson Hak |
| Re-examining the association of AmpC variants with Antimicrobial agents and chemotherapy 2021 Sep AAC0159621. Feng Yu, Hu Ya, Zong Zhiyo |
| Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing. NPJ genomic medicine 2021 Sep 6 (1): 74. van Eyk C L, Webber D L, Minoche A E, Pérez-Jurado L A, Corbett M A, Gardner A E, Berry J G, Harper K, MacLennan A H, Gecz |
| Balanced and unbalanced translocations in a multicentric series of 2,843 patients with chronic lymphocytic leukemia. Genes, chromosomes & cancer 2021 Aug . Costa Dolors, Granada Isabel, Espinet Blanca, Collado Rosa, Ruiz-Xivillé Neus, Puiggros Anna, Uribe Marisol, Arias Amparo, Gómez Cándida, Delgado Julio, Pereira Arturo, Magnano Laura, Colomer Dolors, López Cristina, Beà Sílv |
| Genomic Autopsy of Sudden Deaths in Young Individuals. JAMA cardiology 2021 Aug . Webster Gregory, Puckelwartz Megan J, Pesce Lorenzo L, Dellefave-Castillo Lisa M, Vanoye Carlos G, Potet Franck, Page Patrick, Kearns Samuel D, Pottinger Tess, White Steven, Arunkumar Ponni, Olson Rachael, Kofman Amber, Ibrahim Nora, Ing Alexander, Brew Casey, Yap Kai Lee, Kadri Sabah, George Alfred L, McNally Elizabeth |
| High chromosome instability identified by low-pass whole-genome sequencing assay is associated with TP53 copy loss and worse prognosis in BRCA1 germline mutation breast cancer. Breast cancer (Tokyo, Japan) 2021 Aug . Zhu Liang, Pan Jia-Ni, Qian Ziliang, Ye Wei-Wu, Wang Xiao-Jia, Cao Wen-Mi |
| RIC3 variants are not associated with Parkinson's disease in large European, Latin American, or East Asian cohorts. Neurobiology of aging 2021 Aug . Brolin Kajsa, Bandres-Ciga Sara, Leonard Hampton, Makarious Mary B, Blauwendraat Cornelis, Mata Ignacio F, Foo Jia Nee, Pihlstrøm Lasse, Swanberg Maria, Gan-Or Ziv, Tan Manuela Mx, |
| Assessing the potential correlation of polymorphisms in the IL6R with relative IL6 elevation in severely ill COVID-19 patients'. Cytokine 2021 Jul 155662. Smieszek Sandra P, Przychodzen Bartlomiej P, Polymeropoulos Vasilios M, Polymeropoulos Christos M, Polymeropoulos Mihael |
| Genetic variants in Chinese patients with sporadic Stanford type A aortic dissection. Journal of thoracic disease 2021 Jul 13 (7): 4008-4022. Chen Zhao-Ran, Bao Ming-Hui, Wang Xing-Yu, Yang Yan-Min, Huang Bi, Han Zhong-Li, Cai Jun, Fan Xiao-H |
| Loss of Function Mutations in the IFNAR2 in COVID-19 Severe Infection Susceptibility. Journal of global antimicrobial resistance 2021 Jul . Smieszek Sandra P, Polymeropoulos Mihael |
| The conserved ASTN2/BRINP1 locus at 9q33.1-33.2 is associated with major psychiatric disorders in a large pedigree from Southern Spain. Scientific reports 2021 Jul 11 (1): 14529. Pol-Fuster Josep, Cañellas Francesca, Ruiz-Guerra Laura, Medina-Dols Aina, Bisbal-Carrió Bàrbara, Ortega-Vila Bernat, Llinàs Jaume, Hernandez-Rodriguez Jessica, Lladó Jerònia, Olmos Gabriel, Strauch Konstantin, Heine-Suñer Damià, Vives-Bauzà Cristòfol, Flaquer Antòn |
| TOMM40 '523' poly-T repeat length is a determinant of longitudinal cognitive decline in Parkinson's disease. NPJ Parkinson's disease 2021 Jul 7 (1): 56. Bakeberg Megan C, Gorecki Anastazja M, Pfaff Abigail L, Hoes Madison E, Kõks Sulev, Akkari P Anthony, Mastaglia Frank L, Anderton Ryan |
| The role of frontotemporal dementia associated genes in patients with Alzheimer's disease. Neurobiology of aging 2021 May . Xiao Xuewen, Yuan Zhenhua, Guo Lina, Liao Xinxin, Zhou Yafang, Zhang Weiwei, Zhou Lu, Wang Xin, Liu Xixi, Liu Hui, Wang Junling, Li Jinchen, Shen Lu, Jiao B |
| A polygenic score for acute vaso-occlusive pain in pediatric sickle cell disease. Blood advances 2021 07 5 (14): 2839-2851. Rampersaud Evadnie, Kang Guolian, Palmer Lance E, Rashkin Sara R, Wang Shuoguo, Bi Wenjian, Alberts Nicole M, Anghelescu Doralina, Barton Martha, Birch Kirby, Boulos Nidal, Brandow Amanda M, Brooke Russell John, Chang Ti-Cheng, Chen Wenan, Cheng Yong, Ding Juan, Easton John, Hodges Jason R, Kanne Celeste K, Levy Shawn, Mulder Heather, Patel Ashwin P, Puri Latika, Rosencrance Celeste, Rusch Michael, Sapkota Yadav, Sioson Edgar, Sharma Akshay, Tang Xing, Thrasher Andrew, Wang Winfred, Yao Yu, Yasui Yutaka, Yergeau Donald, Hankins Jane S, Sheehan Vivien A, Downing James R, Estepp Jeremie H, Zhang Jinghui, DeBaun Michael, Wu Gang, Weiss Mitchell |
| Association of 17q22 Amplicon Via Cell-Free DNA With Platinum Chemotherapy Response in Metastatic Triple-Negative Breast Cancer. JCO precision oncology 2021 5 . Collier Katharine A, Asad Sarah, Tallman David, Jenison Janet, Rajkovic Andrei, Mardis Elaine R, Parsons Heather A, Tolaney Sara M, Winer Eric P, Lin Nancy U, Ha Gavin, Adalsteinsson Viktor A, Stover Daniel |
| Identification of Two Novel Candidate Genetic Variants Associated With the Responsiveness to Influenza Vaccination. Frontiers in immunology 2021 12 664024. Wen Simin, Wei Hejiang, Liao Qijun, Li Mao, Zhong Shuyi, Cheng Yanhui, Huang Weijuan, Wang Dayan, Shu Yuelo |
| Integrative Genomic Analyses of 1,145 Patient Samples Reveal New Biomarkers in Esophageal Squamous Cell Carcinoma. Frontiers in molecular biosciences 2021 8 792779. Zou Binbin, Guo Dinghe, Kong Pengzhou, Wang Yanqiang, Cheng Xiaolong, Cui Yongpi |
| The Presence of Genomic Instability in Cerebrospinal Fluid in Patients with Meningeal Metastasis. Cancer management and research 2021 13 4853-4863. Wang Peng, Zhang Henghui, Chen Peng, Sun Zengfeng, Zhang Zhen, Yin Qiang, Sun Huaibo, Yu Jin |
- Page last reviewed:Oct 1, 2021
- Page last updated:May 20, 2022
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