SUBJECTS : Human Genetics | Rare Disease | Genomic Variation | Genetic Medicine | Genomic
LATEST MANUSCRIPTS IN HGG Advances
- Kelvin C de Andrade, Natasha T Strande, Jung Kim, Jeremy S Haley, Jessica N Hatton, Megan N Frone, Payal P Khincha, Gretchen M Thone, Uyenlinh L Mirshahi, Cynthia Schneider, Heena Desai, James T Dove, Diane T Smelser, Penn Medicine BioBank, Regeneron Genetics Center, Arnold J Levine, Kara N Maxwell, Douglas R Stewart, David J Carey, Sharon A Savage. Genome-First Approach of the Prevalence and Cancer Phenotypes of Pathogenic or Likely Pathogenic Germline TP53 Variants. HGG advances. 2023, 5 (1): 100242
Cited : 2Read More - Michael Bentz, Aliya Saperstein, Stephanie M Fullerton, Janet K Shim, Sandra Soo-Jin Lee. Conflating race and ancestry: Tracing decision points about population descriptors over the precision medicine research life course. HGG advances. 2023, 5 (1): 100243Cited : 0Read More
- Emilia M Pinto, Cintia Fridman, Bonald C Figueiredo, Hector Salvador, Manuel R Teixeira, Carla Pinto, Manuela Pinheiro, Christian P Kratz, Cinzia Lavarino, Edith A M F Legal, Anh Le, Gregory Kelly, Erika Koeppe, Elena M Stoffel, Kelsey Breen, Stefanie Hahner, Britta Heinze, Piti Techavichit, Amanda Krause, Tsutomu Ogata, Yasuko Fujisawa, Michael F Walsh, Huma Q Rana, Kara N Maxwell, Judy E Garber, Carlos Rodriguez-Galindo, Raul C Ribeiro, Gerard P Zambetti. Multiple TP53 p.R337H haplotypes and implications for tumor susceptibility. HGG advances. 2023, 5 (1): 100244Cited : 1Read More
- Yilun Li, Kin Yau Wong, Annie Green Howard, Penny Gordon-Larsen, Heather M Highland, Mariaelisa Graff, Kari E North, Carolina G Downie, Christy L Avery, Bing Yu, Kristin L Young, Victoria L Buchanan, Robert Kaplan, Lifang Hou, Brian Thomas Joyce, Qibin Qi, Tamar Sofer, Jee-Young Moon, Dan-Yu Lin. Mendelian randomization with incomplete measurements on the exposure in the Hispanic Community Health Study/Study of Latinos. HGG advances. 2023, 5 (1): 100245Cited : 0Read More
- Vishal Sarsani, Sarah M Brotman, Yin Xianyong, Lillian Fernandes Silva, Markku Laakso, Cassandra N Spracklen. A cross-ancestry genome-wide meta-analysis, fine-mapping, and gene prioritization approach to characterize the genetic architecture of adiponectin. HGG advances. 2023, 5 (1): 100252Cited : 0Read More
- Tianzhong Yang, Lauren J Mills, Aubrey K Hubbard, Rui Cao, Andrew Raduski, Mitchell J Machiela, Logan G Spector. Genetic analyses identify evidence for a causal relationship between Ewing sarcoma and hernias. HGG advances. 2023, 5 (1): 100254Cited : 0Read More
- Sheethal Jose, Gail Geller, Juli Bollinger, Debra Mathews, Jeffrey Kahn, Brian T Garibaldi. The ethics of using COVID-19 host genomic information for clinical and public health decision-making: A survey of US health professionals. HGG advances. 2023, 5 (1): 100255Cited : 0Read More
- Jihong Guo, Wen-Bin He, Lei Dai, Fen Tian, Zhenqing Luo, Fang Shen, Ming Tu, Yu Zheng, Liu Zhao, Chen Tan, Yongteng Guo, Lan-Lan Meng, Wei Liu, Mei Deng, Xinghan Wu, Yu Peng, Shuju Zhang, Guang-Xiu Lu, Ge Lin, Hua Wang, Yue-Qiu Tan, Yongjia Yang. Mosaic variegated aneuploidy syndrome with tetraploid, and predisposition to male infertility triggered by mutant CEP192. HGG advances. 2023, 5 (1): 100256Cited : 0Read More
- Zhou Zhou, Xia Tang, Wen Chen, Qianlong Chen, Bo Ye, Angad S Johar, Iftikhar J Kullo, Keyue Ding. Rare loss-of-function variants in matrisome genes are enriched in Ebstein's anomaly. HGG advances. 2023, 5 (1): 100258Cited : 1Read More
- Simran Samra, Mehul Sharma, Maryam Vaseghi-Shanjani, Kate L Del Bel, Loryn Byres, Susan Lin, Joshua Dalmann, Areesha Salman, Jill Mwenifumbo, Bhavi P Modi, Catherine M Biggs, Cyrus Boelman, Lorne A Clarke, Anna Lehman, Stuart E Turvey. Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphism. HGG advances. 2023, 5 (1): 100259Cited : 0Read More
- Ren-Hua Chung, Shao-Yuan Chuang, Yong-Sheng Zhuang, Yi-Syuan Jhang, Tsung-Hsien Huang, Guo-Hung Li, I-Shou Chang, Chao A Hsiung, Hung-Yi Chiou. Evaluating polygenic risk scores for predicting cardiometabolic traits and disease risks in the Taiwan Biobank. HGG advances. 2023, 5 (1): 100260Cited : 0Read More
- Daniel S Araujo, Chris Nguyen, Xiaowei Hu, Anna V Mikhaylova, Chris Gignoux, Kristin Ardlie, Kent D Taylor, Peter Durda, Yongmei Liu, George Papanicolaou, Michael H Cho, Stephen S Rich, Jerome I Rotter, , Hae Kyung Im, Ani Manichaikul, Heather E Wheeler. Multivariate adaptive shrinkage improves cross-population transcriptome prediction and association studies in underrepresented populations. HGG advances. 2023, 4 (4): 100216Cited : 0Read More
- Sunwoo Jung, Cue Hyunkyu Lee, Jae Hoon Sul, Buhm Han. Building an optimal predictive model for imputing tissue-specific gene expression by combining genotype and whole-blood transcriptome data. HGG advances. 2023, 4 (4): 100223Cited : 0Read More
- Hannah C Beird, Chia-Chin Wu, Michael Nakazawa, Davis Ingram, Joseph R Daniele, Rossana Lazcano, Latasha Little, Christopher Davies, Najat C Daw, Khalida Wani, Wei-Lien Wang, Xingzhi Song, Curtis Gumbs, Jianhua Zhang, Brian Rubin, Anthony Conley, Adrienne M Flanagan, Alexander J Lazar, P Andrew Futreal. Complete loss of and is associated with complex genome and low immune infiltrate in pleomorphic rhabdomyosarcoma. HGG advances. 2023, 4 (4): 100224Cited : 0Read More
- Marlene Richter Jensen, Anne Marie Jelsig, Anne-Marie Gerdes, Lisbet Rosenkrantz Hölmich, Kati Hannele Kainu, Henrik Frank Lorentzen, Mary Højgaard Hansen, Mads Bak, Peter A Johansson, Nicholas K Hayward, Thomas Van Overeem Hansen, Karin A W Wadt. is a major susceptibility gene in Danish patients with multiple primary melanoma. HGG advances. 2023, 4 (4): 100225Cited : 1Read More
