Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 1229 Records) |
Query Trace: Whole genome sequencing[original query] |
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Focused Exome Sequencing Gives a High Diagnostic Yield in the Indian Subcontinent. The Journal of molecular diagnostics : JMD 2024 4 . Arul Joseph Duraisamy, Ruby Liu, Shruti Sureshkumar, Rajiv Rose, Lakshmanan Jagannathan, Cristina da Silva, Adam Coovadia, Vinish Ramachander, Sathyapriya Chandrasekar, Indu Raja, Manisha Sajnani, Sreekanth Muthu Selvaraj, Bhuvandeep Narang, Katayoon Darvishi, Amar Chand Bhayal, Lavanya Katikala, Fen Guo, Xiangwen Chen-Deutsch, Jorune Balciuniene, Zeqiang Ma, Babi Ramesh Reddy Nallamilli, Lora Bean, Christin Collins, Madhuri Heg |
A chromosome-scale fishing cat reference genome for the evaluation of potential germline risk variants. Scientific reports 2024 4 14 (1): 8073. Rachel A Carroll, Edward S Rice, William J Murphy, Leslie A Lyons, Francoise Thibaud-Nissen, Lyndon M Coghill, William F Swanson, Karen A Terio, Tyler Boyd, Wesley C Warr |
Trans-Ancestral Genetic Risk Factors for Treatment-Related Type 2 Diabetes Mellitus in Survivors of Childhood Cancer. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2024 4 JCO2302281. Cindy Im, Achal Neupane, Jessica L Baedke, Brian Lenny, Angela Delaney, Stephanie B Dixon, Eric J Chow, Sogol Mostoufi-Moab, Tianzhong Yang, Melissa A Richard, M Monica Gramatges, Philip J Lupo, Noha Sharafeldin, Smita Bhatia, Gregory T Armstrong, Melissa M Hudson, Kirsten K Ness, Leslie L Robison, Yutaka Yasui, Carmen L Wilson, Yadav Sapko |
The impact of telomere length on prostate cancer aggressiveness, genomic instability and health disparities. Scientific reports 2024 4 14 (1): 7706. Ruotian Huang, M S Riana Bornman, Phillip D Stricker, Ilma Simoni Brum, Shingai B A Mutambirwa, Weerachai Jaratlerdsiri, Vanessa M Hay |
[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 |
Efficacy of pembrolizumab and biomarker analysis in patients with WGS-based intermediate to high tumor mutational load: results from the Drug Rediscovery Protocol. Clinical cancer research : an official journal of the American Association for Cancer Research 2024 4 . Birgit S Geurts, Laurien J Zeverijn, Lindsay V M Leek, Jade M van Berge Henegouwen, Louisa R Hoes, Hanneke van der Wijngaart, Vincent van der Noort, Joris van de Haar, Annemiek van Ommen-Nijhof, Marleen Kok, Paul Roepman, Anne M L Jansen, Wendy W J de Leng, Maja J A de Jonge, Ann Hoeben, Carla M L van Herpen, Hans M Westgeest, Lodewyk F A Wessels, Henk M W Verheul, Hans Gelderblom, Emile E Voe |
Novel mutation leading to splice donor loss in a conserved site of DMD gene causes Duchenne muscular dystrophy with cryptorchidism. Journal of medical genetics 2024 4 . Jianhai Chen, Yangying Jia, Jie Zhong, Kun Zhang, Hongzheng Dai, Guanglin He, Fuping Li, Li Zeng, Chuanzhu Fan, Huayan |
Whole genome sequencing identifies associations for nonsyndromic sagittal craniosynostosis with the intergenic region of BMP2 and noncoding RNA gene LINC01428. Scientific reports 2024 4 14 (1): 8533. Anthony M Musolf, Cristina M Justice, Zeynep Erdogan-Yildirim, Seppe Goovaerts, Araceli Cuellar, John R Shaffer, Mary L Marazita, Peter Claes, Seth M Weinberg, Jae Li, Craig Senders, Marike Zwienenberg, Emil Simeonov, Radka Kaneva, Tony Roscioli, Lorena Di Pietro, Marta Barba, Wanda Lattanzi, Michael L Cunningham, Paul A Romitti, Simeon A Boyadji |
Multi-omic analysis of Esophageal Adenocarcinoma uncovers candidate therapeutic targets and cancer-selective post-transcriptional regulation. Molecular & cellular proteomics : MCP 2024 4 100764. J Robert O'Neill, Marcos Yébenes Mayordomo, Goran Mitulovi?, Sofian Al Shboul, Georges Bedran, Jakub Faktor, Lenka Hernychova, Lukas Uhrik, Maria Gomez-Herranz, Miko?aj Kocikowski, Vicki Save, Bo?ivoj Vojt?šek, Mark Arends, , Ted Hupp, Javier Alfa |
Rare genetic variation in fibronectin 1 (FN1) protects against APOE?4 in Alzheimer's disease. Acta neuropathologica 2024 4 147 (1): 70. Prabesh Bhattarai, Tamil Iniyan Gunasekaran, Michael E Belloy, Dolly Reyes-Dumeyer, Dörthe Jülich, Hüseyin Tayran, Elanur Yilmaz, Delaney Flaherty, Bengisu Turgutalp, Gauthaman Sukumar, Camille Alba, Elisa Martinez McGrath, Daniel N Hupalo, Dagmar Bacikova, Yann Le Guen, Rafael Lantigua, Martin Medrano, Diones Rivera, Patricia Recio, Tal Nuriel, Nilüfer Ertekin-Taner, Andrew F Teich, Dennis W Dickson, Scott Holley, Michael Greicius, Clifton L Dalgard, Michael Zody, Richard Mayeux, Caghan Kizil, Badri N Vardaraj |
Combining genomic biomarkers to guide immunotherapy in non-small cell lung cancer. Clinical cancer research : an official journal of the American Association for Cancer Research 2024 2 . Joris van de Haar, Joanne M Mankor, Karlijn Hummelink, Kim Monkhorst, Egbert F Smit, Lodewyk F A Wessels, Edwin Cuppen, Joachim G J V Aerts, Emile E Voe |
Genome-wide association studies identify novel loci in rapidly progressive Alzheimer's disease. Alzheimer's & dementia : the journal of the Alzheimer's Association 2024 1 . Ping Wang, Audrey Lynn, Kristy Miskimen, Yeunjoo E Song, Thomas Wisniewski, Mark Cohen, Brian S Appleby, Jiri G Safar, Jonathan L Hain |
Mutational signature and prognosis in adenocarcinoma of the bladder. The Journal of pathology 2024 1 . Guoliang Yang, Akezhouli Shahatiaili, Shihao Bai, Liyang Wang, Di Jin, Ming Cao, Peipei Su, Qiang Liu, Kun Tao, Qi Long, Yi Shi, Jing Xiao, Futong Tian, Lianhua Zhang, Haige Chen, Xianbin |
Genetic factors associated with suicidal behaviors and alcohol use disorders in an American Indian population. Molecular psychiatry 2024 1 . Qian Peng, David A Gilder, Rebecca A Bernert, Katherine J Karriker-Jaffe, Cindy L Ehle |
Defining the role of extrachromosomal DNA amplifications in medulloblastoma. Cancer research 2024 1 . Dacheng Zhao, Roel G W Verha |
Rare genetic variation in Fibronectin 1 ( FN1 ) protects against APOEe4 in Alzheimer's disease. bioRxiv : the preprint server for biology 2024 1 . Prabesh Bhattarai, Tamil Iniyan Gunasekaran, Dolly Reyes-Dumeyer, Dörthe Jülich, Hüseyin Tayran, Elanur Yilmaz, Delaney Flaherty, Rafael Lantigua, Martin Medrano, Diones Rivera, Patricia Recio, Nilüfer Ertekin-Taner, Andrew F Teich, Dennis W Dickson, Scott Holley, Richard Mayeux, Caghan Kizil, Badri N Vardaraj |
Association analysis of mitochondrial DNA heteroplasmic variants: methods and application. medRxiv : the preprint server for health sciences 2024 1 . Xianbang Sun, Katia Bulekova, Jian Yang, Meng Lai, Achilleas N Pitsillides, Xue Liu, Yuankai Zhang, Xiuqing Guo, Qian Yong, Laura M Raffield, Jerome I Rotter, Stephen S Rich, Goncalo Abecasis, April P Carson, Ramachandran S Vasan, Joshua C Bis, Bruce M Psaty, Eric Boerwinkle, Annette L Fitzpatrick, Claudia L Satizabal, Dan E Arking, Jun Ding, Daniel Levy, , Chunyu L |
Pharmacogenomics of intravenous immunoglobulin response in Kawasaki disease. Frontiers in immunology 2024 1 14 1287094. Sadeep Shrestha, Howard W Wiener, Hidemi Kajimoto, Vinodh Srinivasasainagendra, Dolena Ledee, Sabrina Chowdhury, Jinhong Cui, Jake Y Chen, Mikayla A Beckley, Luz A Padilla, Nagib Dahdah, Hemant K Tiwari, Michael A Portm |
Reanalysis of Trio Whole-Genome Sequencing Data Doubles the Yield in Autism Spectrum Disorder: De Novo Variants Present in Half. International journal of molecular sciences 2024 1 25 (2): . Omri Bar, Elizabeth Vahey, Mark Mintz, Richard E Frye, Richard G Bol |
MAPT Locus in Parkinson's Disease Patients of Ashkenazi Origin: A Stratified Analysis. Genes 2024 1 15 (1): . Shachar Shani, Mali Gana-Weisz, Anat Bar-Shira, Avner Thaler, Tanya Gurevich, Anat Mirelman, Nir Giladi, Roy N Alcalay, Orly Goldstein, Avi Orr-Urtreg |
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 |
Catechol-O-methyltransferase gene (COMT) is associated with neurocognitive functioning in patients with sickle cell disease. Current research in translational medicine 2024 1 72 (2): 103433. Andrew M Heitzer, Sara R Rashkin, Ana Trpchevska, Jennifer N Longoria, Evadnie Rampersaud, Yunusa Olufadi, Winfred C Wang, Darcy Raches, Brian Potter, Martin H Steinberg, Allison A King, Guolian Kang, Clifford M Takemoto, Jane S Hanki |
Enrichment of colibactin-associated mutational signatures in unexplained colorectal polyposis patients. BMC cancer 2024 1 24 (1): 104. Diantha Terlouw, Arnoud Boot, Quinten R Ducarmon, Sam Nooij, Manon Suerink, Monique E van Leerdam, Demi van Egmond, Carli M Tops, Romy D Zwittink, Dina Ruano, Alexandra M J Langers, Maartje Nielsen, Tom van Wezel, Hans Morre |
Discovery of genomic and transcriptomic pleiotropy between kidney function and soluble receptor for advanced glycation end-products using correlated meta-analyses: The Long Life Family Study (LLFS). medRxiv : the preprint server for health sciences 2024 1 . Mary F Feitosa, Shiow J Lin, Sandeep Acharya, Bharat Thyagarajan, Mary K Wojczynski, Allison L Kuipers, Alexander Kulminski, Kaare Christensen, Joseph M Zmuda, Michael R Brent, Michael A Provin |
Whole-Genome Sequencing Analysis Reveals New Susceptibility Loci and Structural Variants Associated with Progressive Supranuclear Palsy. medRxiv : the preprint server for health sciences 2024 1 . Hui Wang, Timothy S Chang, Beth A Dombroski, Po-Liang Cheng, Vishakha Patil, Leopoldo Valiente-Banuet, Kurt Farrell, Catriona Mclean, Laura Molina-Porcel, Alex Rajput, Peter Paul De Deyn, Nathalie Le Bastard, Marla Gearing, Laura Donker Kaat, John C Van Swieten, Elise Dopper, Bernardino F Ghetti, Kathy L Newell, Claire Troakes, Justo G de Yébenes, Alberto Rábano-Gutierrez, Tina Meller, Wolfgang H Oertel, Gesine Respondek, Thomas Arzberger, Sigrun Roeber, Pau Pastor, Alexis Brice, Alexandra Durr, Isabelle Le Ber, Thomas G Beach, Geidy E Serrano, Lili-Naz Hazrati, Irene Litvan, Rosa Rademakers, Owen A Ross, Douglas Galasko, Adam L Boxer, Bruce L Miller, Willian W Seeley, Vivanna M Van Deerlin, Charles L White, Huw Morris, Rohan de Silva, John F Crary, Alison M Goate, Jeffrey S Friedman, Yuk Yee Leung, Giovanni Coppola, Adam C Naj, Li-San Wang, Dennis W Dickson, Günter U Höglinger, Gerard D Schellenberg, Daniel H Geschwind, Wan-Ping L |
The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young. Genome medicine 2024 1 16 (1): 13. Megan J Puckelwartz, Lorenzo L Pesce, Edgar J Hernandez, Gregory Webster, Lisa M Dellefave-Castillo, Mark W Russell, Sarah S Geisler, Samuel D Kearns, Felix Karthik, Susan P Etheridge, Tanner O Monroe, Tess D Pottinger, Prince J Kannankeril, M Benjamin Shoemaker, Darlene Fountain, Dan M Roden, Meghan Faulkner, Heather M MacLeod, Kristin M Burns, Mark Yandell, Martin Tristani-Firouzi, Alfred L George, Elizabeth M McNal |
Analysis of 245,368 diverse individuals in NIH All of Us Program finds incomplete penetrance of VEXAS-defining UBA1 p.Met41Leu somatic variant. Arthritis & rheumatology (Hoboken, N.J.) 2024 1 . Robert W Corty, James Brogan, Kevin Byram, Jason Springer, Peter C Grayson, Alexander Bi |
A Functional Single-Nucleotide Polymorphism Upstream of the Collagen Type III Gene Is Associated with Catastrophic Fracture Risk in Thoroughbred Horses. Animals : an open access journal from MDPI 2024 1 14 (1): . Esther Palomino Lago, Arabella Baird, Sarah C Blott, Rhona E McPhail, Amy C Ross, Sian A Durward-Akhurst, Deborah J Gue |
A study of genetic variants associated with skin traits in the Vietnamese population. BMC genomics 2024 1 25 (1): 52. Tham Hong Hoang, Duc Minh Vu, Giang Minh Vu, Thien Khac Nguyen, Nguyet Minh Do, Vinh Chi Duong, Thang Luong Pham, Mai Hoang Tran, Ly Thi Khanh Nguyen, Han Thi Tuong Han, Thu-Thuy Can, Thai Hong Pham, Tho Duc Pham, Thanh Hong Nguyen, Huy Phuoc Do, Nam S Vo, Xuan-Hung Nguy |
A maternal germline mutator phenotype in a family affected by heritable colorectal cancer. medRxiv : the preprint server for health sciences 2024 1 . Candice L Young, Annabel C Beichman, David Mas-Ponte, Shelby L Hemker, Luke Zhu, Jacob O Kitzman, Brian Shirts, Kelley Harr |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 29, 2024
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