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PMC Full-Text Search Results

Items: 1 to 20 of 1025

1.
Correction: Epidemiologic association and shared genetic architecture between cataract and hearing difficulties among middle-aged and older adults
Xiayin Zhang, Shan Wang, Shunming Liu, Zijing Du, Guanrong Wu, Yingying Liang, Yu Huang, Xianwen Shang, Yijun Hu, Zhuoting Zhu, Wei Sun, Xueli Zhang, Honghua Yu
Hum Genomics. 2025; 19: 26. Published online 2025 Mar 13. doi: 10.1186/s40246-025-00737-6
Corrects:
Hum Genomics. 2024; 18: 39.
PMCID:
PMC11907998
CorrectionPDF–570K
2.
Exploring the silent connection: unveiling the intricate relationship between gastroesophageal reflux disease and sleep apnea syndrome
Junming Wang, Pengfei Wang, Jiang Lv, Ran Chen, Wei Yan, Daikun He
Hum Genomics. 2025; 19: 23. Published online 2025 Mar 6. doi: 10.1186/s40246-025-00728-7
PMCID:
PMC11883946
ArticlePDF–1.2M
3.
Genetic landscape and ocular biometric correlations in microspherophakia: insights from a comprehensive patient cohort
Yan Liu, Yang Sun, Qiuyi Huo, Linghao Song, Xinyue Wang, Xin Shen, Ye Zhao, Tianhui Chen, Yongxiang Jiang
Hum Genomics. 2025; 19: 22. Published online 2025 Mar 1. doi: 10.1186/s40246-025-00729-6
PMCID:
PMC11872324
ArticlePDF–2.9M
4.
Sengers syndrome caused by biallelic TIMM29 variants and RNAi silencing in Drosophila orthologue recapitulates the human phenotype
Adel Shalata, Ann Saada, Mohammed Mahroum, Yarin Hadid, Chaya Furman, Zaher Eldin Shalata, Robert J. Desnick, Avraham Lorber, Asaad Khoury, Adnan Higazi, Avraham Shaag, Varda Barash, Ronen Spiegel, Euvgeni Vlodavsky, Pierre Rustin, Shmuel Pietrokovski, Irena Manov, Dan Gieger, Galit Tal, Adi Salzberg, Hanna Mandel
Hum Genomics. 2025; 19: 21. Published online 2025 Feb 28. doi: 10.1186/s40246-025-00723-y
PMCID:
PMC11871733
ArticlePDF–3.2M
5.
Exploring the hepatic-ophthalmic axis through immune modulation and cellular dynamics in diabetic retinopathy and non-alcoholic fatty liver disease
Shuyan Zhang, Jiajun Wu, Leilei Wang, Cheng Zhang, Yinjian Zhang, Yibin Feng
Hum Genomics. 2025; 19: 19. Published online 2025 Feb 26. doi: 10.1186/s40246-025-00730-z
PMCID:
PMC11866823
ArticlePDF–13M
6.
Data stewardship and curation practices in AI-based genomics and automated microscopy image analysis for high-throughput screening studies: promoting robust and ethical AI applications
Asefa Adimasu Taddese, Assefa Chekole Addis, Bjorn T. Tam
Hum Genomics. 2025; 19: 16. Published online 2025 Feb 23. doi: 10.1186/s40246-025-00716-x
PMCID:
PMC11849233
ArticlePDF–2.3M
7.
A pan-cancer analysis of the oncogenic and immunological roles of RGS5 in clear cell renal cell carcinomas based on in vitro experiment validation
Ying Zhang, Huming Wang, Fang Dai, Ke He, Zhouting Tuo, Jinyou Wang, Liangkuan Bi, Xin Chen
Hum Genomics. 2025; 19: 14. Published online 2025 Feb 21. doi: 10.1186/s40246-025-00717-w
PMCID:
PMC11846387
ArticlePDF–16M
8.
Analysis of genotypic distribution and rare variants of patients with α/β-thalassemia screened in one hospital in Beijing, China
Han Zhang, Ziran Wang, Zhuo Yang, Xinfei Chen, Hongrui Xu, Xianhui Zeng, Qi Yu, Lingjun Kong, Rui Zhang, Jie Yi, Jie Wu, Yong Gan, Yu Chen, Ali Ye, Ziyi Wang, Dong Zhang, Xiao Han, Juan Du, Yaling Dou
Hum Genomics. 2025; 19: 13. Published online 2025 Feb 21. doi: 10.1186/s40246-024-00715-4
PMCID:
PMC11846217
ArticlePDF–2.5M
9.
Comprehensive bioinformatics analysis of selected germline variants of uncertain significance identified in a cohort of Sri Lankan hereditary breast cancer patients
Nipuni D. S. Arachchige, Nirmala D. Sirisena, Sumadee De Silva, Kanishka S. Senathilake, Mishal Faizan, Vajira H. W. Dissanayake
Hum Genomics. 2025; 19: 12. Published online 2025 Feb 12. doi: 10.1186/s40246-024-00703-8
PMCID:
PMC11823233
ArticlePDF–1.3M
10.
Systematic analysis of the pharmacogenomics landscape towards clinical implementation of precision therapeutics in Greece
George P. Patrinos, Kariofyllis Karamperis, Margarita-Ioanna Koufaki, Maria Skokou, Zoe Kordou, Eirini Sparaki, Margarita Skaraki, Christina Mitropoulou
Hum Genomics. 2025; 19: 11. Published online 2025 Feb 7. doi: 10.1186/s40246-025-00720-1
PMCID:
PMC11806879
ArticlePDF–2.1M
11.
Liver macrophage-derived exosomal miRNA-342-3p promotes liver fibrosis by inhibiting HPCAL1 in stellate cells
Wenshuai Li, Lirong Chen, Qi Zhou, Tiansheng Huang, Wanwei Zheng, Feifei Luo, Zhong Guang Luo, Jun Zhang, Jie Liu
Hum Genomics. 2025; 19: 9. Published online 2025 Feb 5. doi: 10.1186/s40246-025-00722-z
PMCID:
PMC11800645
ArticlePDF–3.7M
12.
Correction: Shared genetics between breast cancer and predisposing diseases identifies novel breast cancer treatment candidates
Panagiotis N. Lalagkas, Rachel D. Melamed
Hum Genomics. 2025; 19: 6. Published online 2025 Jan 23. doi: 10.1186/s40246-024-00707-4
Corrects:
Hum Genomics. 2024; 18: 124.
PMCID:
PMC11758718
CorrectionPDF–556K
13.
The GeoTox Package: open-source software for connecting spatiotemporal exposure to individual and population-level risk
Kyle P. Messier, David M. Reif, Skylar W. Marvel
Hum Genomics. 2025; 19: 5. Published online 2025 Jan 18. doi: 10.1186/s40246-024-00711-8
PMCID:
PMC11742212
ArticlePDF–3.7M
14.
The interplay of sex and genotype in disease associations: a comprehensive network analysis in the UK Biobank
Vivek Sriram, Jakob Woerner, Yong-Yeol Ahn, Dokyoon Kim
Hum Genomics. 2025; 19: 4. Published online 2025 Jan 17. doi: 10.1186/s40246-024-00710-9
PMCID:
PMC11740496
ArticlePDF–2.6M
15.
Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays
Cristina Fortuno, Inés Llinares-Burguet, Daffodil M. Canson, Miguel de la Hoya, Elena Bueno-Martínez, Lara Sanoguera-Miralles, Sonsoles Caldes, Paul A. James, Eladio A. Velasco-Sampedro, Amanda B. Spurdle
Hum Genomics. 2025; 19: 2. Published online 2025 Jan 8. doi: 10.1186/s40246-024-00714-5
PMCID:
PMC11715486
ArticlePDF–1.4M
16.
Scrutinizing neurodegenerative diseases: decoding the complex genetic architectures through a multi-omics lens
Relu Cocoș, Bogdan Ovidiu Popescu
Hum Genomics. 2024; 18: 141. Published online 2024 Dec 31. doi: 10.1186/s40246-024-00704-7
PMCID:
PMC11687004
ArticlePDF–2.8M
17.
Molecular basis of mucopolysaccharidosis type II (Hunter syndrome): first review and classification of published IDS gene variants
Alessandra Zanetti, Francesca D’Avanzo, Rosella Tomanin
Hum Genomics. 2024; 18: 134. Published online 2024 Dec 2. doi: 10.1186/s40246-024-00701-w
PMCID:
PMC11610362
ArticlePDF–2.6M
18.
The associations of candidate gene polymorphisms with aspirin resistance in patients with ischemic disease: a meta-analysis
Chun-xing Li, Li-chaoyue Sun, Yu-qiao Wang, Tian-tian Liu, Jin-rui Cai, Hua Liu, Zhao Ren, Zhanmiao Yi
Hum Genomics. 2024; 18: 135. Published online 2024 Dec 2. doi: 10.1186/s40246-024-00699-1
PMCID:
PMC11610159
ArticlePDF–2.9M
19.
SCAN: a nanopore-based, cost effective decision-supporting tool for mass screening of aneuploidies
Anne Kristine Schack, M. Carmen Garrido-Navas, David Galevski, Gjorgji Madjarov, Lukasz Krych
Hum Genomics. 2024; 18: 131. Published online 2024 Nov 22. doi: 10.1186/s40246-024-00690-w
PMCID:
PMC11583562
ArticlePDF–2.1M
20.
Genetic heterogeneity in familial forms of genetic generalized epilepsy: from mono- to oligogenism
Maha Dahawi, Jean-Madeleine de Sainte Agathe, Mohamed S. Elmagzoub, Elhami A. Ahmed, Julien Buratti, Thomas Courtin, Eric Noé, Julie Bogoin, Bruno Copin, Fatima A. Elmugadam, Wasma A. Abdelgadir, Ahmed K. M. A. Ahmed, Mohamed A. Daldoum, Rayan Mamoon Ibrahim Altayeb, Mohamed Bashir, Leena Mohamed Khalid, Sahar Gamil, Sara Baldassari, Liena Elsayed, Boris Keren, Gregory Nuel, Ammar E. Ahmed, Eric Leguern
Hum Genomics. 2024; 18: 130. Published online 2024 Nov 21. doi: 10.1186/s40246-024-00659-9
PMCID:
PMC11583555
ArticlePDF–4.4M

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