Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 245 Records) |
| Query Trace: Reproducibility[original query] |
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| Reproducibility in the UK biobank of genome-wide significant signals discovered in earlier genome-wide association studies. Scientific reports 2021 Sep 11 (1): 18625. O'Sullivan Jack W, Ioannidis John P |
| Implementation of Next Generation Sequencing-Based Liquid Biopsy for Clinical Molecular Diagnostics in Non-Small Cell Lung Cancer (NSCLC) Patients. Diagnostics (Basel, Switzerland) 2021 8 11 (8): . Zulato Elisabetta, Tosello Valeria, Nardo Giorgia, Bonanno Laura, Del Bianco Paola, Indraccolo Stefa |
| Genetic factors affecting dopaminergic deterioration during the premotor stage of Parkinson disease. NPJ Parkinson's disease 2021 11 7 (1): 104. Lee Myung Jun, Pak Kyoungjune, Kim Han-Kyeol, Nudelman Kelly N, Kim Jong Hun, Kim Yun Hak, Kang Junho, Baek Min Seok, Lyoo Chul Hyou |
| Multisite verification of the accuracy of a multi-gene next generation sequencing panel for detection of mutations and copy number alterations in solid tumours. PloS one 2021 10 16 (10): e0258188. Bartlett John, Amemiya Yutaka, Arts Heleen, Bayani Jane, Eng Barry, Grafodatskaya Daria, Kamel Reid Suzanne, Lariviere Mathieu, Lo Bryan, McClure Rebecca, Mittal Vinay, Sadikovic Bekim, Sadis Seth, Seth Arun, Smith Jeff, Zhang Xiao, Feilotter Harri |
| Biologic Pathways Underlying Prognostic Radiomics Phenotypes from Paired MRI and RNA Sequencing in Glioblastoma. Radiology 2021 Sep 203281. Sun Qiuchang, Chen Yinsheng, Liang Chaofeng, Zhao Yuanshen, Lv Xiaofei, Zou Yan, Yan Kai, Zheng Hairong, Liang Dong, Li Zhi-Che |
Genetic architecture of orbital telorism.
Human molecular genetics 2021 11 31 (9): 1531-1543. Knol Maria J, Pawlak Mikolaj A, Lamballais Sander, Terzikhan Natalie, Hofer Edith, Xiong Ziyi, Klaver Caroline C W, Pirpamer Lukas, Vernooij Meike W, Ikram M Arfan, Schmidt Reinhold, Kayser Manfred, Evans Tavia E, Adams Hieab H |
| Comprehensive Validation of Diagnostic Next-Generation Sequencing Panels for Acute Myeloid Leukemia Patients. The Journal of molecular diagnostics : JMD 2022 6 24 (8): 935-954. Wagner Ulrich, Wong Christine, Camenisch Ulrike, Zimmermann Kathrin, Rechsteiner Markus, Valtcheva Nadejda, Theocharides Alexandre, Widmer Corinne C, Manz Markus G, Moch Holger, Wild Peter J, Balabanov Stef |
| Comparison of two next-generation sequencing-based approaches for liquid biopsy analysis in patients with non-small cell lung cancer: a multicentre study. Journal of clinical pathology 2022 Jun . Bessi Silvia, Pepe Francesco, Russo Gianluca, Pisapia Pasquale, Ottaviantonio Marco, Biancalani Francesca, Iaccarino Antonino, Russo Maria, Biancalani Mauro, Troncone Giancarlo, Malapelle Umber |
| A direct sequencing assay for pharmacogenetic testing of thiopurine-intolerant NUDT15 alleles in an Asian population. BMC research notes 2022 4 15 (1): 148. Poon Kok-Siong, Imran Izz Irfan B, Chew Silvester Kheng-Han, Tan Patrice, Tan Karen Mei-Li |
| The immunohistochemical molecular risk classification in endometrial cancer: A pragmatic and high-reproducibility method. Gynecologic oncology 2022 3 165 (3): 585-593. Perrone Emanuele, De Felice Francesca, Capasso Ilaria, Distefano Ettore, Lorusso Domenica, Nero Camilla, Arciuolo Damiano, Zannoni Gian Franco, Scambia Giovanni, Fanfani Frances |
| Analytic approaches to clinical validation of results from preclinical models of glioblastoma: A systematic review. PloS one 2022 3 17 (3): e0264740. Fitt Beth, Loy Grace, Christopher Edward, Brennan Paul M, Poon Michael Tin Chu |
| Tumor mutation burden for predicting immune checkpoint blockade response: the more, the better. Journal for immunotherapy of cancer 2022 2 10 (1): . Zheng Mi |
| Laboratory Cross-Comparison and Ring Test Trial for Tumor BRCA Testing in a Multicenter Epithelial Ovarian Cancer Series: The BORNEO GEICO 60-0 Study. Journal of personalized medicine 2022 12 12 (11): . Garcia-Casado Zaida, Oaknin Ana, Mendiola Marta, Alkorta-Aranburu Gorka, Antunez-Lopez Jose Ramon, Moreno-Bueno Gema, Palacios Jose, Yubero Alfonso, Marquez Raul, Gallego Alejandro, Sanchez-Heras Ana Beatriz, Lopez-Guerrero Jose Antonio, Perez-Segura Cristina, Barretina-Ginesta Pilar, Alarcon Jesus, Gaba Lydia, Marquez Antonia, Matito Judit, Cueva Juan, Palacio Isabel, Iglesias Maria, Arcusa Angels, Sanchez-Lorenzo Luisa, Guerra-Alia Eva, Romero Ignacio, Vivancos A |
| Allele-specific expression reveals functional SNPs affecting muscle-related genes in bovine. Biochimica et biophysica acta. Gene regulatory mechanisms 2022 10 1865 (8): 194886. Bruscadin Jennifer Jessica, Cardoso Tainã Figueiredo, da Silva Diniz Wellison Jarles, Afonso Juliana, de Souza Marcela Maria, Petrini Juliana, Nascimento Andrade Bruno Gabriel, da Silva Vinicius Henrique, Ferraz José Bento Sterman, Zerlotini Adhemar, Mourão Gerson Barreto, Coutinho Luiz Lehmann, de Almeida Regitano Luciana Corre |
| SNP characteristics and validation success in genome wide association studies. Human genetics 2022 1 141 (2): 229-238. Gorlova Olga Y, Xiao Xiangjun, Tsavachidis Spiridon, Amos Christopher I, Gorlov Ivan |
| Association between 9p21-23 Locus and Frailty in a Community-Dwelling Greek Population: Results from the Hellenic Longitudinal Investigation of Ageing and Diet. The journal of prevention of Alzheimer's disease 2022 9 (1): 77-85. Mourtzi N, Hatzimanolis A, Xiromerisiou G, Ntanasi E, Georgakis M K, Ramirez A, Heilmann-Heimbach S, Grenier-Boley B, Lambert J C, Yannakoulia M, Kosmidis M, Dardiotis E, Hadjigeorgiou G, Sakka P, Scarmeas |
| Application of a simplified PCR-SSP method to detect A4GALT*01 and A4GALT*02 typing among Thai blood donors. Transfusion clinique et biologique : journal de la Societe francaise de transfusion sanguine 2023 9 . Pattaranit Amphonritthisak, Oytip Nathalang, Nipapan Leetrakool, Supattra Mitundee, Kamphon Intharan |
| KIR genotype and haplotype repertoire in Kuwaiti healthy donors, hematopoietic cell transplant recipients and healthy family members. HLA 2023 3 . Ameen Reem, Titus Roshni, Geo Jeethu Anu, Al Shemmari Salem, Geraghty Daniel E, Pyo Chul-Woo, Askar Medh |
| Identification of genetic susceptibility in preterm newborns with bronchopulmonary dysplasia by whole-exome sequencing: BIVM gene may play a role. European journal of pediatrics 2023 2 . Luo Xi, Zhao Min, Chen Cheng, Lin Fengji, Li Xiaodong, Huang Haiyun, Dou Lei, Feng Jinxing, Xiao Shanqiu, Liu Dong, He Junli, Yu Jial |
| An Italian Multicenter Perspective Harmonization Trial for the Assessment of MET Exon 14 Skipping Mutations in Standard Reference Samples. Diagnostics (Basel, Switzerland) 2023 2 13 (4): . Bironzo Paolo, Pepe Francesco, Russo Gianluca, Pisapia Pasquale, Gragnano Gianluca, Aquino Gabriella, Bessi Silvia, Buglioni Simonetta, Bartoccini Federico, Ferrero Giuseppina, Bresciani Michela Anna, Francia di Celle Paola, Sibona Francesca, Giusti Andrea, Movilia Alessandra, Farioli Renata Mariella, Santoro Alessandra, Salemi Domenico, Scarpino Stefania, Galafate Dino, Tommasi Stefania, Lacalamita Rosanna, Seminati Davide, Sajjadi Elham, Novello Silvia, Pagni Fabio, Troncone Giancarlo, Malapelle Umber |
| Magnetic resonance imaging preprocessing and radiomic features for classification of autosomal dominant polycystic kidney disease genotype. Journal of medical imaging (Bellingham, Wash.) 2023 12 10 (6): 064503. Linnea E Kremer, Arlene B Chapman, Samuel G Arma |
| Uncovering the Genetic Etiology of Inherited Bone Marrow Failure Syndromes Using a Custom-designed Next Generation Sequencing Panel. The Journal of molecular diagnostics : JMD 2023 12 . Fumin Lin, Kajia Cao, Fengqi Chang, Joseph H Oved, Minjie Luo, Zhiqian Fan, Jeffrey Schubert, Jinhua Wu, Yiming Zhong, Daniel J Gallo, Elizabeth H Denenberg, Jiani Chen, Elizabeth A Fanning, Michele P Lambert, Michele E Paessler, Lea F Surrey, Kristin Zelley, Suzanne MacFarland, Peter Kurre, Timothy S Olson, Marilyn M |
| Comprehensive molecular analysis of driver mutations in non-small cell lung carcinomas and its correlation with PD-L1 expression, An Indian perspective. Pathology, research and practice 2023 12 253 155013. Aditi Aggarwal, Shivani Sharma, Zoya Brar, Vipin Kumar, Akash Kumar, Rahul Katara, Sambit K Mohan |
| Development and validation of a next-generation sequencing assay with open-access analysis software for detecting resistance-associated mutations in CMV. Journal of clinical microbiology 2023 12 61 (12): e0082923. Melanie A Mallory, Weston C Hymas, Keith E Simmon, Michael T Pyne, Jeffery B Stevenson, Adam P Barker, David R Hillyard, Kimberly E Hans |
| The association between EPCR gene p.Ser219Gly polymorphism and venous thromboembolism risk: a case-control study, meta-analysis, and a reproducibility study. Frontiers in cardiovascular medicine 2023 12 10 1270093. Dóra Pituk, Tünde Miklós, Ágota Schlammadinger, Katalin Rázsó, Zsuzsanna Berecz |
| Eosinophilic Cells in Ovarian Borderline Serous Tumors as a Predictor of BRAF Mutation. Cancers 2024 7 16 (13): . Alina Badlaeva, Anna Tregubova, Andrea Palicelli, Aleksandra Asaturo |
| Limitations in next-generation sequencing-based genotyping of breast cancer polygenic risk score loci. European journal of human genetics : EJHG 2024 6 . Alexandra Baumann, Christian Ruckert, Christoph Meier, Tim Hutschenreiter, Robert Remy, Benedikt Schnur, Marvin Döbel, Rudel Christian Nkouamedjo Fankep, Dariush Skowronek, Oliver Kutz, Norbert Arnold, Anna-Lena Katzke, Michael Forster, Anna-Lena Kobiela, Katharina Thiedig, Andreas Zimmer, Julia Ritter, Bernhard H F Weber, Ellen Honisch, Karl Hackmann, , Gunnar Schmidt, Marc Sturm, Corinna Ern |
| Fox Insight at 5 years - a cohort of 54,000 participants contributing longitudinal patient-reported outcome, genetic, and microbiome data relating to Parkinson's disease. Scientific data 2024 6 11 (1): 615. Joshua Gottesman, Yasir Karim, Jodie Forbes, Leslie Kirsch, Keaton Stagman, Monica Korell, Caroline Tann |
| Genetic risk factors for bortezomib-induced neuropathic pain in an Asian population: A genome-wide association study in South Korea. The journal of pain 2024 5 104552. Young Gi Min, Sung-Yeoun Lee, Ehyun Lim, Mi-Young Park, Dong-Ho Kim, Ja Min Byun, Youngil Koh, Junshik Hong, Dong-Yeop Shin, Sung-Soo Yoon, Jung-Joon Sung, Seog Bae Oh, Inho K |
| The Validation of Digital PCR-Based Minimal Residual Disease Detection for the Common Mutations in IDH1 and IDH2 Genes in Patients with Acute Myeloid Leukemia. The Journal of molecular diagnostics : JMD 2024 11 . Jing Di, Tao Sheng, Ranjana Aurora, Jennifer Stocks-Candelaria, Sainan Wei, Charles Lutz, Fevzi F Yalniz, Shulin Zha |
- Page last reviewed:Feb 1, 2024
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