Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 6651 Records) |
| Query Trace: Next-generation sequencing[original query] |
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| Digenic Inheritance Mode in Congenital Hypothyroidism due to Thyroid Dysgenesis: HYPOTYGEN translational cohort study. The Journal of clinical endocrinology and metabolism 2025 1 . Athanasia Stoupa, Dulanjalee Kariyawasam, Fabienne Jabot-Hanin, Adrien Nguyen Quoc, Sylvain Hanein, Tioka Rabeony, Caroline Elie, Sandra Colas, Caroline Thalassinos, Isabelle Oliver-Petit, Muriel Houang, Régis Coutant, Pascal Barat, Marc Nicolino, Rachel Reynaud, Marc de Kerdanet, Candace Ben Signor, Sabine Baron, Catherine Raynaud-Ravni, Pierre-François Souchon, Juliane Léger, Mireille Castanet, Christine Bole-Feysot, Patrick Nitschke, Stanislas Lyonnet, Michel Polak, Aurore Car |
| FLNA genomic rearrangements in a 391 French bilateral periventricular nodular heterotopia cohort: prevalence and phenotypic correlations. Journal of medical genetics 2025 1 . Henri Margot, Natalia Hernandez Poblete, Chloé Angelini, Julie Desforges, Julie Bouron, Benoit Arveiler, Caroline Rooryck, Cyril Goizet, Patricia Fergel |
| Genomic profiling of intimal sarcoma reveals molecular subtypes with distinct tumor microenvironments and therapeutic implications. ESMO open 2025 1 10 (1): 104097. C Park, R Kim, J M Bae, T Lee, S Song, Y Kwak, K B Lee, J Youk, B Keam, T M Kim, D-W Kim, J-I Kim, J Choi, M K |
| Clinical exome next?generation sequencing panel for hereditary pheochromocytoma and paraganglioma diagnosis. Experimental and therapeutic medicine 2025 1 29 (2): 34. Beatrice Melli, Vincenza Ylenia Cusenza, Sandra Martinelli, Federica Castiglione, Loretta Fornaciari, Andrea Palicelli, Luca Braglia, Enrico Farnetti, Aurelio Negro, Simonetta Rosato, Andrea Frasoldati, Maicol Baldini, Chiara Grasselli, Davide Nico |
| Application of targeted high-throughput sequencing as a diagnostic tool for neonatal genetic metabolic diseases following tandem mass spectrometry screening. Frontiers in public health 2025 1 12 1461141. Guihua Lai, Qiying Gu, Zhiyong Lai, Haijun Chen, Xiangwen Tu, Junkun Chen, Jungao Hua |
| PDE11A is a phenotype modulator of Primary Bilateral Macronodular Adrenal Hyperplasia: results of a 334 patients' series. The Journal of clinical endocrinology and metabolism 2025 1 . Patricia Vaduva, Lucas Bouys, Anne Jouinot, Stephanie Espiard, Albain Chansavang, Annabel Berthon, Mario Néou, Anna Vaczlavik, Florian Violon, Helaine Charchar, Matthias Kroiss, Gerald Raverot, Helene Lasolle, Laurence Guignat, Rossella Libé, Guillaume Assié, Antoine Tabarin, Peter Kamenicky, Eric Pasmant, Maria Fragoso, Constantine Stratakis, Bruno Ragazzon, Jérôme Berther |
| SNPs in GPCR Genes and Impaired Osteogenic Potency in Osteoporotic Patient Lines-Based Study. International journal of molecular sciences 2025 1 25 (24): . Julia Sopova, Olga Krasnova, Giomar Vasilieva, Anna Zhuk, Olga Lesnyak, Vitaliy Karelkin, Irina Negano |
| Colorectal Cancer: A Brief and Simplified Analysis of a Complex Disease. Medicina (Kaunas, Lithuania) 2025 1 60 (12): . Krasimir Petrov, Ivan Ivanov, Savelina Popovska, Tatyana Betova, Zornitsa Kamburo |
| Predictive Molecular Biomarkers of Bladder Cancer Identified by Next-Generation Sequencing-Preliminary Data. Journal of clinical medicine 2025 1 13 (24): . Aleksander Myszka, Marek Ciesla, Aleksandra Siekierzynska, Anna Sendera, Constantina Constantinou, Pawel Karpinski, Grzegorz Wysiadecki, Krzysztof Balawend |
| Associations Between Clinical Manifestations of SARS-CoV-2 Infection and HLA Alleles in a Caucasian Population: A Molecular HLA Typing Study. Journal of clinical medicine 2025 1 13 (24): . Bogus?aw Tymoniuk, Maciej Borowiec, Joanna Makowska, Emilia Holwek, Joanna Sarnik, Filip Styrzy?ski, Izabela Dró?d?, Andrzej Lewi?ski, Magdalena Stasi |
| Analysis of the benefit of anti-PD-1 monotherapy according to NGS-diagnosed genetic alterations in patients with non-small cell lung cancer. Exploration of targeted anti-tumor therapy 2025 1 5 (6): 1435-1449. Hortense De Saint Basile, Reza Elaidi, Zineb Maaradji, Hélène Blons, Rym BenDhiab, Laure Gibault, Elizabeth Fab |
| Efficacy and safety of pegylated liposomal doxorubicin and epirubicin as neoadjuvant chemotherapy for breast cancer. Frontiers in cell and developmental biology 2025 1 12 1448037. Yuanyuan Shen, Qingling Hua, Menghao Dong, Wei Jin, Xueyang Hu, Kangsheng |
| Molecular Profiling of Sinonasal Adenoid Cystic Carcinoma: Canonical and Noncanonical Gene Fusions and Mutation. The American journal of surgical pathology 2025 1 . Alena Skálová, Martina Bradová, Abbas Agaimy, Jan Laco, Cécile Badual, Stephan Ihrler, Ivan Damjanov, Niels J Rupp, Carlos E Bacchi, Sarina Mueller, Sami Ventelä, Da Zhang, Eva Comperat, Petr Martínek, Radek Šíma, Tomas Van??ek, Petr Grossmann, Petr Steiner, Veronka Hájková, Inka Ková?ová, Michal Michal, Ilmo Lei |
| Multigene Panel Testing Revealed Novel Variants in Hereditary Spherocytosis Patients in Türkiye. Turkish journal of haematology : official journal of Turkish Society of Haematology 2025 1 . Ömer Do?ru, Ceren Alavanda, ?enol Demir, Ahmet Koç, P?nar A |
| Intrathecal pemetrexed improves survival outcomes in previously treated EGFR-mutant advanced non-small-cell lung cancer with leptomeningeal metastases. Heliyon 2025 1 10 (24): e40703. Liqun Li, Zhe Huang, Yangqian Chen, Hongzhi Ma, Xiaoquan Chen, Huan Yan, Haoyue Qin, Yuda Zhang, Xing Zhang, Wenjuan Jiang, Zhan Wang, Lin Zhang, Fanxu Zeng, Zhiguo Zhou, Xingxiang Pu, Nong Yang, Liang Zeng, Yongchang Zha |
| Next-generation sequencing demonstrates racial and sex differences in genomic profiling of hepatocellular carcinoma patients: an AACR GENIE project analysis. HPB : the official journal of the International Hepato Pancreato Biliary Association 2025 1 . Diamantis I Tsilimigras, Hunter Stecko, Dimitrios Moris, Timothy M Pawl |
| Amivantamab Plus Lazertinib in Patients With EGFR-mutant Non-small Cell Lung Cancer (NSCLC) After Progression on Osimertinib and Platinum-based Chemotherapy: Results From CHRYSALIS-2 Cohort A. Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer 2025 1 . Benjamin Besse, Koichi Goto, Yongsheng Wang, Se-Hoon Lee, Melina E Marmarelis, Yuichiro Ohe, Reyes Bernabe Caro, Dong-Wan Kim, Jong-Seok Lee, Sophie Cousin, Eiki Ichihara, Yongsheng Li, Luis Paz-Ares, Akira Ono, Rachel E Sanborn, Naohiro Watanabe, Maria Jose de Miguel, Carole Helissey, Catherine A Shu, Alexander I Spira, Pascale Tomasini, James Chih-Hsin Yang, Yiping Zhang, Enriqueta Felip, Frank Griesinger, Saiama N Waqar, Antonio Calles, Joel W Neal, Christina S Baik, Pasi A Jänne, S Martin Shreeve, Joshua C Curtin, Bharvin Patel, Michael Gormley, Xuesong Lyu, Jun Chen, Pei-Ling Chu, Janine Mahoney, Leonardo Trani, Joshua M Bauml, Meena Thayu, Roland E Knoblauch, Byoung Chul C |
| Genetic Landscape of Dystonia in Asian Indians. Movement disorders clinical practice 2025 1 . Arti Saini, Inder Singh, Mukesh Kumar, Divya Madathiparambil Radhakrishnan, Ayush Agarwal, Divyani Garg, Arunmozhimaran Elavarasi, Rahul Singh, Vivek Chouhan, Sandeep, Anu Gupta, Venugopalan Yamuna Vishnu, Mamta Bhushan Singh, Rohit Bhatia, Ajay Garg, Neerja Gupta, Riyaz Ahmad Mir, Mohammed Faruq, Balachandran Krishnamma Binukumar, Achal Kumar Srivastava, Roopa Raj |
| Composite microRNA-genetic risk score model links to migraine and implicates its pathogenesis. Brain : a journal of neurology 2025 1 . Shih-Pin Chen, Ya-Hsuan Chang, Yen-Feng Wang, Hsuan-Yu Chen, Shuu-Jiun Wa |
| Detection of genomic variants in BRCA1 and BRCA2 across gastric cancer patients using next generation sequencing. American journal of translational research 2025 1 16 (12): 7898-7910. Fangfang Li, Mostafa A Abdel-Maksoud, Tahir Ullah, Moeen Ul Haq, Abdurrehman Khan, Aliu Olalekan Olatunji, Bakar Bin Khatab Abbasi, Ibrahim A Saleh, Mehak Nabi Rather, Jehad S Al-Hawadi, Naser Zomot, Saeedah Musaed Almutairi, Rida N |
| A next-generation sequencing-based universal target panel and algorithm for one-stop detection of copy number alterations and single-nucleotide variations in the HBB gene cluster for rapid diagnosis of ?-thalassemia. Molecular biology reports 2025 1 52 (1): 128. Debashis Pal, Prosanto Kumar Chowdhury, Kaustav Nayek, Nidhan K Biswas, Subrata Das, Anupam Ba |
| Investigating Sequence Variations in CNTNAP2 and SETBP1 Genes in Language Disorders. Clinical psychopharmacology and neuroscience : the official scientific journal of the Korean College of Neuropsychopharmacology 2025 1 23 (1): 100-109. Betül Turan, Emine Gökta?, Necati Uzun, Ay?egül Tu?ba H?ra Selen, Ay?e Gül Zamani, Mahmut Selman Y?ld?r |
| Evaluation of plasma cell sorting methods in multiple myeloma patients: flow cytometry versus magnetic beads. Cancer cell international 2025 1 25 (1): 16. Yu Jeong Choi, Jaeguk Choi, Yehyun Kang, Saeam Shin, Seung-Tae Lee, Jong Rak Ch |
| Genetic profiling of osteosarcoma in an adolescent using a next?generation sequencing panel and Sanger sequencing: A case report and review of the literature. Biomedical reports 2025 1 22 (3): 42. Mariana Chantre-Justino, Rafaele Tavares Silvestre, Thiago Luz De Castro, Eliane Luz, Rafael De Castro E Silva Pinheiro, Anabela Caruso, Ana Cristina De Sá Lopes, Walter Meohas, Gilda Alves, Maria Helena Faria Ornell |
| Solar elastosis correlates with high tumor mutation burden and better 5-year disease-specific survival in patients with stage II/III melanoma. EJC skin cancer 2025 1 2 . Cecilia Lezcano, Li Luo, Ronglai Shen, Irene Orlow, Nancy E Thomas, Marianne Berwick, Klaus J Bus |
| Multi-Gene Panel for Thrombophilia Testing in Venous Thromboembolism. Journal of thrombosis and haemostasis : JTH 2025 1 . Andreas Verstraete, Mae Jeraldine De Vera, Christine Van Laer, Quentin Van Thillo, Sarissa Baert, Cyrielle Kint, Veerle Labarque, Chris Van Geet, Marc Jacquemin, Peter Verhamme, Kathleen Freson, Thomas Vanassc |
| Genetic variations in IGF2BP2 and CAPN10 and their interaction with environmental factors increase gestational diabetes mellitus risk in Chinese women. Gene 2025 1 941 149226. Runqiu Yang, Xin Wang, Yi Zhang, Lei Jin, Kai Zhao, Juan Chen, Xuejun Shang, Yuanzhong Zhou, Hongsong |
| GERMLINE PATHOGENIC VARIANTS IN PATIENTS WITH PANCREATIC DUCTAL ADENOCARCINOMA AND EXTRA-PANCREATIC MALIGNANCIES: A NATIONWIDE DATABASE ANALYSIS. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2025 1 100709. Valentyna Kryklyva, Michael J Pflüger, Hicham Ouchene, Hanneke Volleberg-Gorissen, Arjen R Mensenkamp, Marianne A Jonker, Carlijn van de Water, Iris D Nagtegaal, Marjolijn J L Ligtenberg, Lodewijk A A Brose |
| Clinicopathologic and genomic characteristics of biliary tract carcinomas with TERT promoter mutations among East Asian population. Pathology, research and practice 2025 1 266 155806. Inwoo Hwang, So Young Kang, Deok Geun Kim, Kee-Taek Jang, Kyoung-Mee K |
| Comparative genomic analysis unveiling the mutational landscape associated with premalignant lesions and early-stage gastric cardia cancer. Medicine 2025 1 104 (2): e40332. Guangda Wang, Liang Liu, Yang Zhao, Yan Lin, Limian |
- Page last reviewed:Feb 1, 2024
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