Works matching IS 14739542 AND DT 2025 AND VI 19 AND IP 1

Results: 61

Causal impact of genetically-determined fish and fish oil intake on epigenetic age acceleration and related serum markers.

Published in:

Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-025-00756-3

By:

Fabian, Paul;
Blander, Gil;
Deehan, Renee;
Torkamani, Ali;
Nogal, Bartek

Publication type:

Article

Identification of loci associated with women's reproductive traits and exploration of a shared genetic basis with obesity.

Published in:

Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-025-00773-2

By:

Kwon, Seong-ah;
Cho, Yoon Shin

Publication type:

Article

Genetic counseling in the Middle East: provider perspectives of patient attitudes and cultural challenges.

Published in:

Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-025-00770-5

By:

Shenbagam, Shruti;
Taylor, Alan;
Jain, Ruchi;
Fakhro, Khalid;
Alkuraya, Fowzan;
Abou Tayoun, Ahmad

Publication type:

Article

BAX-mediated ammonia-driven cell death: a novel prognostic and therapeutic target in clear cell renal cell carcinoma.

Published in:

Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-025-00764-3

By:

Zhang, Xi;
Yu, Zijie;
Yin, Lu;
Li, Qiang;
He, Shaohua;
Li, Heng;
Li, Jian;
Sheng, Lian;
Wu, Hongfei;
Chen, Hongqi;
Zhu, Xiaoxu;
Lv, Yang

Publication type:

Article

Exploring potential methylation markers for ovarian cancer from cervical scraping samples.

Published in:

Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-025-00763-4

By:

Lien, Ju-Yin;
Hii, Lu Ann;
Su, Po-Hsuan;
Chen, Lin-Yu;
Wen, Kuo-Chang;
Lai, Hung-Cheng;
Wang, Yu-Chao

Publication type:

Article

On the aspiration to decode the impact of genomics on performance in power and endurance sports.

Published in:

2025

By:

Flück, Martin;
Gasser, Benedikt;
Dössegger, Alain

Publication type:

Letter

A survey on mutation spectrum in Iranian patients with limb-girdle muscular dystrophies.

Published in:

Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-025-00771-4

By:

Khalilian, Sheyda;
Fathi, Mohadeseh;
Tangestani, Raheleh;
Larki, Pegah;
Sayad, Arezou;
Ghafouri-Fard, Soudeh;
Miryounesi, Mohammad

Publication type:

Article

Targeted multi-layer analysis of PANoptosis-associated genes in the etiology of chronic kidney disease.

Published in:

Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-025-00768-z

By:

Li, Tong;
Zhang, Yingyue;
Wang, Xingzhi;
Liu, Qi;
Ma, Xiaofei;
Sui, Manshu

Publication type:

Article

Bioinformatics analysis of circular RNAs associated with atrial fibrillation and their evaluation as predictive biomarkers.

Published in:

Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-025-00760-7

By:

Wang, Manman;
Chen, Yuanyuan;
Yang, Weiwei;
Li, Xiangting;
Liu, Genli;
Wang, Xin;
Liu, Shuai;
Gao, Ge;
Meng, Fanhua;
Kong, Feifei;
Sun, Dandan;
Qin, Wei;
Dong, Bo;
Zhang, Jinguo

Publication type:

Article

Prognostic significance of clonal hematopoiesis in STEMI: a 10-year follow-up reveals high-risk gene mutations.

Published in:

Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-025-00757-2

By:

Fan, Wen-Lang;
Yeh, Jih-Kai;
Hsieh, Li-Ching;
Tsai, Ming-Lung;
Ho, Ming-Yun;
Huang, Yi-Chun;
Hsieh, I-Chang;
Wen, Ming-Shien;
Wang, Chao-Yung

Publication type:

Article

Expression of concern for global biomedical research by the human genome organization (HUGO).

Published in:

2025

By:

Hamosh, Ada;
Arzuaga, Fabiana;
B. Avraham, Karen;
Bin Alwi, Zilfalil;
Bowcock, Anne;
Burn, Sir John;
Carninci, Piero;
Dandara, Collet;
Lopes-Cendes, Iscia;
Mutesa, Leon;
P. Majumder, Partha;
K.V. Reichardt, Juergen;
A. Veltman, Joris

Publication type:

Letter

Genetic variants of m<sup>1</sup>A modification genes and the risk of neuroblastoma: novel insights from a Chinese case-control study.

Published in:

Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-025-00767-0

By:

Chang, Jiaming;
Lin, Lei;
Zhang, Wenli;
Yang, Jiliang;
Zhang, Mengzhen;
Yin, Huimin;
Zhang, Xinxin;
Zhou, Chunlei;
Zou, Yan;
He, Jing

Publication type:

Article

Two novel mutations in TBC1D32 add complexity to the oro-facial-digital syndrome.

Published in:

Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-025-00759-0

By:

García-Bohórquez, Belén;
Marín-Reina, Purificación;
Aller, Elena;
Barberán-Martínez, Pilar;
Armengot, Miguel;
Llorens-Salvador, Roberto;
Almor-Palacios, Inmaculada Concepción;
Millán, José M.;
García-García, Gema

Publication type:

Article

Genomics and athletic performance: an emerging discipline that is not yet ready for society.

Published in:

2025

By:

Psatha, Aikaterini;
Mitropoulou, Christina;
Patrinos, George P.

Publication type:

Letter

Comprehensive analysis of prognosis markers with molecular features derived from pan-cancer whole-genome sequences.

Published in:

Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-025-00744-7

By:

Kato, Mamoru;
Nishino, Jo;
Nagai, Momoko;
Rokutan, Hirofumi;
Narushima, Daichi;
Ono, Hanako;
Hasegawa, Takanori;
Imoto, Seiya;
Matsui, Shigeyuki;
Tsunoda, Tatsuhiko;
Shibata, Tatsuhiro

Publication type:

Article

Reliability of clinical impressions and optimal genetic diagnostic strategies of heritable connective tissue disorders with ocular involvement in a large Chinese cohort.

Published in:

Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-025-00749-2

By:

Shu, Qin-Meng;
Ju, Yu-Qiao;
Zong, Yuan;
Zhang, Ting;
Huang, Xin;
Gao, Feng-juan;
Chang, Qing

Publication type:

Article

Genetics and clinical implications of SPINK1 in the pancreatitis continuum and pancreatic cancer.

Published in:

Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-025-00740-x

By:

Wang, Qi-Wen;
Zou, Wen-Bin;
Masson, Emmanuelle;
Férec, Claude;
Liao, Zhuan;
Chen, Jian-Min

Publication type:

Article

Uncovering potential causal genes for undiagnosed congenital anomalies using an in-house pipeline for trio-based whole-genome sequencing.

Published in:

Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-024-00709-2

By:

Kim, Jeong-Min;
Cho, Hye-Won;
Shin, Dong Mun;
Kim, Oc-Hee;
Kim, Jihyun;
Lee, Hyeji;
Lee, Gang-Hee;
An, Joon-Yong;
Yang, Misun;
Jo, Heui Seung;
Jang, Ja-Hyun;
Chang, Yun Sil;
Park, Hyun-Young;
Park, Mi-Hyun

Publication type:

Article

Advancing translational exposomics: bridging genome, exposome and personalized medicine.

Published in:

Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-025-00761-6

By:

Sarigiannis, Dimosthenis;
Karakitsios, Spyros;
Anesti, Ourania;
Stem, Arthur;
Valvi, Damaskini;
Sumner, Susan C.J.;
Chatzi, Leda;
Snyder, Michael P.;
Thompson, David C.;
Vasiliou, Vasilis

Publication type:

Article

Molecular and clinical aspects of histone-related disorders.

Published in:

Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-025-00734-9

By:

Al Ojaimi, Mode;
Banimortada, Bashar J.;
Alragheb, Abduljalil;
Hajir, Razan S.;
Alves, Carolina;
Walid, Duaa;
Raza, Afsheen;
El-Hattab, Ayman W.

Publication type:

Article

Functional analyses of splice site variants in TCF12.

Published in:

Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-025-00758-1

By:

Borst, Angela;
Schweitzer, Tilmann;
Horn, Denise;
Kunstmann, Erdmute;
König, Eva-Maria;
Pluta, Natalie;
Klopocki, Eva

Publication type:

Article

Expression of concern for global biomedical research by the human genome organization (HUGO).

Published in:

2025

By:

Hamosh, Ada;
Arzuaga, Fabiana;
B. Avraham, Karen;
Bin Alwi, Zilfalil;
Bowcock, Anne;
Burn, Sir John;
Carninci, Piero;
Dandara, Collet;
Lopes-Cendes, Iscia;
Mutesa, Leon;
P. Majumder, Partha;
K.V. Reichardt, Juergen;
A. Veltman, Joris

Publication type:

Letter

Pharmacogenomic insights into atorvastatin and rosuvastatin adverse effects: a prospective observational study in the UAE's multiethnic population.

Published in:

Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-025-00753-6

By:

Alqasrawi, Mais N.;
Al‑Mahayri, Zeina N.;
AlBawa'neh, Areej S.;
Khasawneh, Lubna Q.;
Dabaghie, Lilas;
Altoum, Sahar M.;
Hamza, Dana;
Misra, Virendra;
Ouda, Husam;
Aburuz, Salahdein;
Al-Maskari, Fatima;
AlKaabi, Juma;
Patrinos, George P.;
Ali, Bassam R.

Publication type:

Article

Assessing the causal effects of type 2 diabetes and obesity-related traits on COVID-19 severity.

Published in:

Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-025-00747-4

By:

Seo, Jieun;
Kim, Gaeun;
Park, Seunghwan;
Lee, Aeyeon;
Liang, Liming;
Park, Taesung;
Chung, Wonil

Publication type:

Article

Molecular genetic testing and cohort analysis of 32 twin pairs with neurodevelopmental disorders-Reporting a novel de novo variant of TET3.

Published in:

Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-025-00748-3

By:

Mei, Lianni;
Hu, Chunchun;
Jin, Guangbo;
Ge, Chuanhui;
Zhu, Yiting;
Li, Dongyun;
Peng, Wenzhu;
Li, Huiping;
Xu, Xiu;
Jiang, Yan;
Xu, Guoliang;
Xu, Qiong

Publication type:

Article

Functional analysis of a novel FOXL2 mutation in blepharophimosis, ptosis, and epicanthus inversus syndrome type II and elucidation of the genotype-phenotype correlation.

Published in:

Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-025-00752-7

By:

Shen, Bingyan;
Chen, Xi;
Zhu, Xiuying;
Chen, Ziwen;
Fang, Yenan;
Dai, Qin;
Li, Xinyu;
Xie, Qiqi;
Wu, Wencan;
Wang, Min

Publication type:

Article

Experiences of participants with undiagnosed diseases and hereditary cancers during the initial phase of the Hong Kong genome project: a mixed-methods study.

Published in:

Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-025-00746-5

By:

Chu, Annie TW;
Sze, Samuel YC;
Tse, Desiree MS;
Lai, Cheryl WY;
Ng, Carmen S;
Yu, Coco WS;
Chung, Pui-hong;
Pang, Fei-chau;
Chung, Brian HY;
Lo, Su-vui;
Quan, Jianchao

Publication type:

Article

Displacement of distant regulatory elements of FOXC1 as a potential human disease mechanism.

Published in:

2025

By:

Ferre-Fernández, Jesús-José;
Reis, Linda M.;
Semina, Elena V.

Publication type:

Letter

Clinical utility of trio whole exome sequencing in fetuses with ultrasound anomalies.

Published in:

Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-025-00745-6

By:

Zeng, Ziye;
Zhang, Lan;
Zhou, Yuqin;
Zhang, Xue;
Yi, Hong;
Li, He;
Liu, Yuqi;
Li, Jian;
Chen, Qian;
Chen, Yulin;
Yu, Guiming;
Yi, Jing;
Zhang, Yana;
Zhang, Hua;
Dong, Yanling

Publication type:

Article

A comparison of the expression patterns and diagnostic capability of the ncRNAs NEAT1 and miR-34a in non-obstructive azoospermia and severe oligospermia.

Published in:

Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-025-00742-9

By:

Salman, Aya;
Radwan, Abdullah F.;
Shaker, Olfat G.;
A., Adel;
Sayed, Ghadir A.

Publication type:

Article

Tapping natures rhythm: the role of season in mitochondrial function and genetics in the UK biobank.

Published in:

Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-025-00743-8

By:

Papadam, Anastasios;
Mihov, Mihail;
Koller, Adriana;
Weissensteiner, Hansi;
Stark, Klaus;
Grassmann, Felix

Publication type:

Article

Genetic risk factors associated with ocular perfusion pressure in primary open-angle glaucoma.

Published in:

Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-025-00738-5

By:

Jin, Heejin;
Seo, Je Hyun;
Lee, Young;
Won, Sungho

Publication type:

Article

Establishment and validation of a DIP panel for forensic ancestry inference and personal identification.

Published in:

Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-025-00727-8

By:

Li, Shuanglin;
Mei, Shuyan;
Liu, Yanfang;
Cui, Wei;
Zhu, Bofeng

Publication type:

Article

Identifying behavior regulatory leverage over mental disorders transcriptomic network hubs toward lifestyle-dependent psychiatric drugs repurposing.

Published in:

Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-025-00733-w

By:

Turky, Mennatullah Abdelzaher;
Youssef, Ibrahim;
El Amir, Azza

Publication type:

Article

Serine/threonine kinase 11 (STK11) associated adnexal tumors: from biology to therapeutic impact.

Published in:

Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-025-00741-w

By:

Huang, Guanxiang;
Lin, Wenyu;
Jiang, Tingting;
Cai, Yuanjun;
Lin, Chengbin;
Sun, Pengming

Publication type:

Article

Dynamic profiling of Cell-free DNA fragmentation uncovers postprandial metabolic and immune alterations.

Published in:

Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-025-00739-4

By:

Zhu, Ziting;
Chen, Tao;
Zhang, Manting;
Shi, Xiaodi;
Yu, Pan;
Liu, Jianai;
Duan, Xiuzhi;
Tao, Zhihua;
Wang, Xuchu

Publication type:

Article

The CFTR K464N variant in fetuses potential increases premature birth risk in Chinese families.

Published in:

Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-025-00736-7

By:

Li, Jingping;
Zhang, Lingyun;
Xi, Fangfang;
Lin, Chuanping;
Zhan, Qitao;
Zhou, Qing;
Zheng, Shi;
Chen, Weikang;
Jin, Fan

Publication type:

Article

Correction: Epidemiologic association and shared genetic architecture between cataract and hearing difficulties among middle-aged and older adults.

Published in:

2025

By:

Zhang, Xiayin;
Wang, Shan;
Liu, Shunming;
Du, Zijing;
Wu, Guanrong;
Liang, Yingying;
Huang, Yu;
Shang, Xianwen;
Hu, Yijun;
Zhu, Zhuoting;
Sun, Wei;
Zhang, Xueli;
Yu, Honghua

Publication type:

Correction Notice

Establishing a European wastewater pathogen monitoring network employing aviation samples: a proof of concept.

Published in:

Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-025-00725-w

By:

Morfino, Robert;
Gawlik, Bernd Manfred;
Tavazzi, Simona;
Tessarolo, Angela;
Gutierrez, Ana Burgos;
Madhav, Nita K.;
Grimsley, Jasmine;
Schierhorn, Amy;
Franklin, Andrew;
Vargha, Marta;
Engeli, Andrew;
Wolfe, Mitchell

Publication type:

Article

Exploring the silent connection: unveiling the intricate relationship between gastroesophageal reflux disease and sleep apnea syndrome.

Published in:

Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-025-00728-7

By:

Wang, Junming;
Wang, Pengfei;
Lv, Jiang;
Chen, Ran;
Yan, Wei;
He, Daikun

Publication type:

Article

Genetic landscape and ocular biometric correlations in microspherophakia: insights from a comprehensive patient cohort.

Published in:

Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-025-00729-6

By:

Liu, Yan;
Sun, Yang;
Huo, Qiuyi;
Song, Linghao;
Wang, Xinyue;
Shen, Xin;
Zhao, Ye;
Chen, Tianhui;
Jiang, Yongxiang

Publication type:

Article

Genetic insights into cardiac conduction disorders from genome-wide association studies.

Published in:

Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-025-00732-x

By:

Li, Bingxun;
Xu, Hongxuan;
Wu, Lin

Publication type:

Article

Sengers syndrome caused by biallelic TIMM29 variants and RNAi silencing in Drosophila orthologue recapitulates the human phenotype.

Published in:

Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-025-00723-y

By:

Shalata, Adel;
Saada, Ann;
Mahroum, Mohammed;
Hadid, Yarin;
Furman, Chaya;
Shalata, Zaher Eldin;
Desnick, Robert J.;
Lorber, Avraham;
Khoury, Asaad;
Higazi, Adnan;
Shaag, Avraham;
Barash, Varda;
Spiegel, Ronen;
Vlodavsky, Euvgeni;
Rustin, Pierre;
Pietrokovski, Shmuel;
Manov, Irena;
Gieger, Dan;
Tal, Galit;
Salzberg, Adi

Publication type:

Article

Exploring the hepatic-ophthalmic axis through immune modulation and cellular dynamics in diabetic retinopathy and non-alcoholic fatty liver disease.

Published in:

Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-025-00730-z

By:

Zhang, Shuyan;
Wu, Jiajun;
Wang, Leilei;
Zhang, Cheng;
Zhang, Yinjian;
Feng, Yibin

Publication type:

Article

Causal effects of education, intelligence, and income on COVID-19: evidence from a Mendelian randomization study.

Published in:

Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-025-00731-y

By:

Song, Yuqing;
Baranova, Ancha;
Cao, Hongbao;
Yue, Weihua;
Zhang, Fuquan

Publication type:

Article

Proteome-wide Mendelian randomization identifies causal plasma proteins in prostate cancer development.

Published in:

Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-025-00724-x

By:

Wu, Jian;
Yang, Zitong;
Ding, Jiafeng;
Hao, Sida;
Chen, Hong;
Jin, Ke;
Zhang, Cheng;
Zheng, Xiangyi

Publication type:

Article

The comprehensive potential of AQP1 as a tumor biomarker: evidence from kidney neoplasm cohorts, cell experiments and pan-cancer analysis.

Published in:

Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-025-00726-9

By:

Liu, Yifan;
Lyu, Donghao;
Yao, Yuntao;
Cui, Jinming;
Liu, Jiangui;
Bai, Zikuan;
Zhao, Zihui;
Li, Yuanan;
Lu, Bingnan;
Dong, Keqin;
Pan, Xiuwu

Publication type:

Article

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.

Published in:

Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-025-00716-x

By:

Taddese, Asefa Adimasu;
Addis, Assefa Chekole;
Tam, Bjorn T.

Publication type:

Article

A pan-cancer analysis of the oncogenic and immunological roles of RGS5 in clear cell renal cell carcinomas based on in vitro experiment validation.

Published in:

Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-025-00717-w

By:

Zhang, Ying;
Wang, Huming;
Dai, Fang;
He, Ke;
Tuo, Zhouting;
Wang, Jinyou;
Bi, Liangkuan;
Chen, Xin

Publication type:

Article

Analysis of genotypic distribution and rare variants of patients with α/β-thalassemia screened in one hospital in Beijing, China.

Published in:

Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-024-00715-4

By:

Zhang, Han;
Wang, Ziran;
Yang, Zhuo;
Chen, Xinfei;
Xu, Hongrui;
Zeng, Xianhui;
Yu, Qi;
Kong, Lingjun;
Zhang, Rui;
Yi, Jie;
Wu, Jie;
Gan, Yong;
Chen, Yu;
Ye, Ali;
Wang, Ziyi;
Zhang, Dong;
Han, Xiao;
Du, Juan;
Dou, Yaling

Publication type:

Article