Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 1480 Records) |
Query Trace: Genome sequencing[original query] |
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Associations between subjective social status and predictors of interest in genetic testing among women diagnosed with breast cancer at a young age. Cancer causes & control : CCC 2024 5 . Jonathan N Odumegwu, Daniel Chavez-Yenter, Melody S Goodman, Kimberly A Kaphing |
Genomic and phenotypic correlates of mosaic loss of chromosome Y in blood. medRxiv : the preprint server for health sciences 2024 5 . Yasminka A Jakubek, Xiaolong Ma, Adrienne M Stilp, Fulong Yu, Jason Bacon, Justin W Wong, Francois Aguet, Kristin Ardlie, Donna Arnett, Kathleen Barnes, Joshua C Bis, Tom Blackwell, Lewis C Becker, Eric Boerwinkle, Russell P Bowler, Matthew J Budoff, April P Carson, Jiawen Chen, Michael H Cho, Josef Coresh, Nancy Cox, Paul S de Vries, Dawn L DeMeo, David W Fardo, Myriam Fornage, Xiuqing Guo, Michael E Hall, Nancy Heard-Costa, Bertha Hidalgo, Marguerite Ryan Irvin, Andrew D Johnson, Eimear E Kenny, Dan Levy, Yun Li, Joao Ac Lima, Yongmei Liu, Ruth J F Loos, Mitchell J Machiela, Rasika A Mathias, Braxton D Mitchell, Joanne Murabito, Josyf C Mychaleckyj, Kari North, Peter Orchard, Stephen Cj Parker, Yash Pershad, Patricia A Peyser, Katherine A Pratte, Bruce M Psaty, Laura M Raffield, Susan Redline, Stephen S Rich, Jerome I Rotter, Sanjiv J Shah, Jennifer A Smith, Aaron P Smith, Albert Smith, Margaret Taub, Hemant K Tiwari, Russell Tracy, Bjoernar Tuftin, Alexander G Bick, Vijay G Sankaran, Alexander P Reiner, Paul Scheet, Paul L Au |
Pediatric Chordoma: A Tale of Two Genomes. Molecular cancer research : MCR 2024 5 . Katrina O'Halloran, Hesamedin Hakimjavadi, Moiz Bootwalla, Dejerianne Ostrow, Rhea Kerawala, Jennifer A Cotter, Venkata Yellapantula, Kristiyana Kaneva, Nitin R Wadhwani, Amy Treece, Nicholas K Foreman, Sanda Alexandrescu, Jose Velazquez Vega, Jaclyn A Biegel, Xiaowu G |
Mutational signature-based identification of DNA repair deficient gastroesophageal adenocarcinomas for therapeutic targeting. NPJ precision oncology 2024 4 8 (1): 87. Aurel Prosz, Pranshu Sahgal, Brandon M Huffman, Zsofia Sztupinszki, Clare X Morris, David Chen, Judit Börcsök, Miklos Diossy, Viktoria Tisza, Sandor Spisak, Pornlada Likasitwatanakul, Orsolya Rusz, Istvan Csabai, Michael Cecchini, Yasmine Baca, Andrew Elliot, Peter Enzinger, Harshabad Singh, Jessalyn Ubellaker, Jean-Bernard Lazaro, James M Cleary, Zoltan Szallasi, Nilay S Set |
Burden of Mendelian disorders in a large Middle Eastern biobank. Genome medicine 2024 4 16 (1): 46. Waleed Aamer, Aljazi Al-Maraghi, Najeeb Syed, Geethanjali Devadoss Gandhi, Elbay Aliyev, Alya A Al-Kurbi, Omayma Al-Saei, Muhammad Kohailan, Navaneethakrishnan Krishnamoorthy, Sasirekha Palaniswamy, Khulod Al-Malki, Saleha Abbasi, Nourhen Agrebi, Fatemeh Abbaszadeh, Ammira S Al-Shabeeb Akil, Ramin Badii, Tawfeg Ben-Omran, Bernice Lo, , Younes Mokrab, Khalid A Fakh |
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 |
Longitudinal study investigating the influence of COMT gene polymorphism on cortical thickness changes in Parkinson's disease over four years. Scientific reports 2024 4 14 (1): 9920. Amin Tajeri |
RFC1 Repeat Distribution in the Cypriot Population: Study of a Large Cohort of Patients With Undiagnosed Ataxia and Non-Disease Controls. Neurology. Genetics 2024 4 10 (3): e200149. Christina Votsi, Marios Tomazou, Paschalis Nicolaou, Marios C Pantzaris, Giorgos Pitsas, Archontia Adamou, Kleopas A Kleopa, Eleni Zamba-Papanicolaou, Kyproula Christodoul |
Genome-wide association study and trans-ethnic meta-analysis identify novel susceptibility loci for type 2 diabetes mellitus. BMC medical genomics 2024 4 17 (1): 115. Asma A Elashi, Salman M Toor, Umm-Kulthum Ismail Umlai, Yasser A Al-Sarraj, Shahrad Taheri, Karsten Suhre, Abdul Badi Abou-Samra, Omar M E Albag |
Genome Sequencing in an Individual Presenting with 22q11.2 Deletion Syndrome and Juvenile Idiopathic Arthritis. Genes 2024 4 15 (4): . Ruy Pires de Oliveira-Sobrinho, Simone Appenzeller, Ianne Pessoa Holanda, Júlia Lôndero Heleno, Josep Jorente, On Behalf Of The Rare Genomes Project Consortium, Társis Paiva Vieira, Carlos Eduardo Stein |
Genome-Wide Analysis of Exertional Rhabdomyolysis in Sickle Cell Trait Positive African Americans. Genes 2024 4 15 (4): . Mingqiang Ren, Nyamkhishig Sambuughin, Ognoon Mungunshukh, Daniel Baxter Edgeworth, Daniel Hupalo, Xijun Zhang, Matthew D Wilkerson, Clifton L Dalgard, Francis G O'Connor, Patricia A Deust |
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 |
A Nanopore Sequencing-based Pharmacogenomic Panel to Personalize Tuberculosis Drug Dosing. American journal of respiratory and critical care medicine 2024 4 . Renu Verma, Kesia Esther da Silva, Neesha Rockwood, Roeland E Wasmann, Nombuso Yende, Taeksun Song, Eugene Kim, Paolo Denti, Robert J Wilkinson, Jason R Andre |
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 |
Two novel non-coding single nucleotide variants in the DNase1 hypersensitivity site of PRDM13 causing North Carolina macular dystrophy in Korea. Molecular vision 2024 4 30 58-66. Yuri Seo, Kwangsic Joo, Junwon Lee, Amber Diaz, Sohyun Jang, Timothy J Cherry, Kinga M Bujakowska, Jinu Han, Se Joon Woo, Kent W Sma |
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 |
Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren Syndrome. Journal of the American Heart Association 2024 1 13 (3): e031377. Delong Liu, Charles J Billington, Neelam Raja, Zoe C Wong, Mark D Levin, Wulfgang Resch, Camille Alba, Daniel N Hupalo, Elisa Biamino, Maria Francesca Bedeschi, Maria Cristina Digilio, Gabriella Maria Squeo, Roberta Villa, Pheobe C R Parrish, Russell H Knutsen, Sharon Osgood, Joy A Freeman, Clifton L Dalgard, Giuseppe Merla, Barbara R Pober, Carolyn B Mervis, Amy E Roberts, Colleen A Morris, Lucy R Osborne, Beth A Koz |
A Systematic Review on Heritability of Sudden Sensorineural Hearing Loss. The Laryngoscope 2024 1 . Mª Á Yélamos Lorente, Patricia Perez-Carpena, Jose A Lopez-Escam |
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 |
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- Page last updated:May 06, 2024
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