Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 1491 Records) |
Query Trace: Genome sequencing[original query] |
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Genetic Rare Variants Affecting Multiple Pathways in Japanese Patients with Palindromic Rheumatism. The Kobe journal of medical sciences 2024 5 70 (1): E26-E38. Taketo Kawara, Koji Inoue, Shunichi Shiozawa, Kayo Osawa, Koichiro Kom |
PPP2R5D heterozygous pathogenic variant causes early-onset parkinsonism and treatment implications: A case report. Parkinsonism & related disorders 2024 5 124 106976. Wai Yan Yau, Srimathy Vijayan, Gianina Ravenscro |
The Role of X Chromosome in Alzheimer's Disease Genetics. medRxiv : the preprint server for health sciences 2024 5 . Michael E Belloy, Yann Le Guen, Ilaria Stewart, Joachim Herz, Richard Sherva, Rui Zhang, Victoria Merritt, Matthew S Panizzon, Richard L Hauger, , J Michael Gaziano, Mark Logue, Valerio Napolioni, Michael D Greici |
Genome-wide somatic mutation analysis of sinonasal adenocarcinoma with and without wood dust exposure. Genes and environment : the official journal of the Japanese Environmental Mutagen Society 2024 5 46 (1): 12. Lauri J Sipilä, Riku Katainen, Mervi Aavikko, Janne Ravantti, Iikki Donner, Rainer Lehtonen, Ilmo Leivo, Henrik Wolff, Reetta Holmila, Kirsti Husgafvel-Pursiainen, Lauri A Aalton |
Molnupiravir increases SARS-CoV-2 genome diversity and complexity: A case-control cohort study. Journal of medical virology 2024 5 96 (5): e29642. Cesare Ernesto Maria Gruber, Fabio Giovanni Tucci, Emanuela Giombini, Valentina Mazzotta, Pietro Giorgio Spezia, Martina Rueca, Ilaria Mastrorosa, Lavinia Fabeni, Giulia Berno, Ornella Butera, Silvia Rosati, Eliana Specchiarello, Fabrizio Carletti, Daniele Focosi, Emanuele Nicastri, Enrico Girardi, Andrea Antinori, Fabrizio Mag |
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 |
MitoH3: Mitochondrial Haplogroup and Homoplasmic/Heteroplasmic Variant Calling Pipeline for Alzheimer's Disease Sequencing Project. Journal of Alzheimer's disease reports 2024 5 8 (1): 575-587. Congcong Zhu, Tong Tong, John J Farrell, Eden R Martin, William S Bush, Margaret A Pericak-Vance, Li-San Wang, Gerard D Schellenberg, Jonathan L Haines, Kathryn L Lunetta, Lindsay A Farrer, Xiaoling Zha |
APOBEC3 mutagenesis drives therapy resistance in breast cancer. bioRxiv : the preprint server for biology 2024 5 . Avantika Gupta, Andrea Gazzo, Pier Selenica, Anton Safonov, Fresia Pareja, Edaise M da Silva, David N Brown, Yingjie Zhu, Juber Patel, Juan Blanco-Heredia, Bojana Stefanovska, Michael A Carpenter, Xin Pei, Denise Frosina, Achim A Jungbluth, Marc Ladanyi, Giuseppe Curigliano, Britta Weigelt, Nadeem Riaz, Simon N Powell, Pedram Razavi, Reuben S Harris, Jorge S Reis-Filho, Antonio Marra, Sarat Chandarlapa |
Genome Sequencing is Critical for Forecasting Outcomes following Congenital Cardiac Surgery. medRxiv : the preprint server for health sciences 2024 5 . W Scott Watkins, E Javier Hernandez, Thomas A Miller, Nathan R Blue, Raquel Zimmerman, Eric R Griffiths, Erwin Frise, Daniel Bernstein, Marko T Boskovski, Martina Brueckner, Wendy K Chung, J William Gaynor, Bruce D Gelb, Elizabeth Goldmuntz, Peter J Gruber, Jane W Newburger, Amy E Roberts, Sarah U Morton, John E Mayer, Christine E Seidman, Jonathan G Seidman, Yufeng Shen, Michael Wagner, H Joseph Yost, Mark Yandell, Martin Tristani-Firou |
Constitutional and acquired genetic variants in ARID5B in pediatric B-cell precursor acute lymphoblastic leukemia. Genes, chromosomes & cancer 2024 5 63 (5): e23242. Charlotte Ragnarsson, Minjun Yang, Larissa Helena Moura-Castro, Efe Ayd?n, Rebeqa Gunnarsson, Linda Olsson-Arvidsson, Henrik Lilljebjörn, Thoas Fioretos, Nicolas Duployez, Marketa Zaliova, Jan Zuna, Anders Castor, Bertil Johansson, Kajsa Paulss |
Association Analysis of Essential Tremor-Associated Genetic Variants in Sporadic Late-Onset Parkinson's Disease. Tremor and other hyperkinetic movements (New York, N.Y.) 2024 5 14 25. Sheng Zeng, Xun Zhou, Runcheng He, Yuwen Zhao, Zhenhua Liu, Qian Xu, Jifeng Guo, Xinxiang Yan, Jinchen Li, Beisha Tang, Qiying S |
Genomic insights into inherited bone marrow failure syndromes in a Korean population. British journal of haematology 2024 5 . Jong-Mi Lee, Hoon Seok Kim, Jaeeun Yoo, Jaewoong Lee, Ari Ahn, Hanwool Cho, Eun Hee Han, Jin Jung, Jae Won Yoo, Seongkoo Kim, Jae Wook Lee, Bin Cho, Nack-Gyun Chung, Myungshin Kim, Yonggoo K |
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 |
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 |
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 |
- Page last reviewed:Feb 1, 2024
- Page last updated:May 20, 2024
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