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

Results: 79

Phenome-wide association study identifies multiple traits associated with a polygenic risk score for colorectal cancer.

Published in:

Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-025-00791-0

By:

Rosenthal, Elisabeth A.;
Wei, Wei-Qi;
Luo, Yuan;
Namjou-Khales, Bahram;
Schaid, Daniel J.;
Esplin, Edward D.;
Lape, Michael;
Kottyan, Leah;
Pacheco, Jennifer Allen;
Weng, Chunhua;
Gordon, Adam Samuel;
Kullo, Iftikhar J.;
Crosslin, David R.;
Grady, William M.;
Hsu, Li;
Peters, Ulrike;
Jarvik, Gail P.

Publication type:

Article

HerediVar and HerediClassify: tools for streamlining genetic variant classification in hereditary breast and ovarian cancer.

Published in:

Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-025-00787-w

By:

Katzke, Anna-Lena;
Doebel, Marvin;
Hauke, Jan;
Schmidt, Gunnar;
Sturm, Marc

Publication type:

Article

Shared genetic architecture between stroke and blood lipids: a large-scale genome-wide cross-trait analysis.

Published in:

Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-025-00789-8

By:

Bai, Wenya;
Zhou, Guilin;
Jiang, Huan;
Li, Xuelian;
Shao, Jianlin

Publication type:

Article

Identification and experimental validation of ulcerative colitis-associated hub genes through integrated WGCNA and lysosomal autophagy analysis.

Published in:

Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-025-00783-0

By:

Zhao, Yuanpei;
Li, Yijun;
Xu, Qingwen;
Ding, Lili;
Li, Weiming;
Zou, Qinghua;
Hu, Yichen;
Shi, Kaiwen;
Liu, Hongyuan

Publication type:

Article

Prevalence and impact of molecular variation in the three-prime repair exonuclease 1 TREX1 and its implications for oncology.

Published in:

Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-025-00785-y

By:

Shekfeh, Marwa;
Konaté, Mariam M.;
Krushkal, Julia

Publication type:

Article

Identification and functional analysis of a novel TBC1D23 pathogenic variant in a Chinese family with pontocerebellar hypoplasia.

Published in:

Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-025-00782-1

By:

Liu, Kangyu;
Chen, Yu;
Meng, Yunlong;
Wang, Xinyao;
Tang, Xingkun;
Li, Haining;
Chen, Jianjun;
Zhong, Zilin

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

Pharmacists' perspectives on integrating pharmacogenetics in clinical practice.

Published in:

Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-025-00780-3

By:

Hatem, Najmaddin A. H.;
Badullah, Wafa;
Yousuf, Seena A.;
Ibrahim, Mohamed Izham Mohamed;
Haidar, Waleed A.;
Zawiah, Mohammed

Publication type:

Article

Toward streamline variant classification: discrepancies in variant nomenclature and syntax for ClinVar pathogenic variants across annotation tools.

Published in:

Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-025-00778-x

By:

Chen, Yu-An;
Yuan, Tzu-Hang;
Huang, Jia-Hsin;
Wang, Yu-Bin;
Hung, Tzu-Mao;
Chen, Chien-Yu;
Chen, Pei-Lung;
Hsu, Jacob Shujui

Publication type:

Article

Update of the sideroflexin (SLC56) gene family.

Published in:

Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-025-00779-w

By:

Katsafadou, Angeliki I.;
Nebert, Daniel W.;
Krupenko, Sergey A.;
Thompson, David C.;
Vasiliou, Vasilis

Publication type:

Article

Toward streamline variant classification: discrepancies in variant nomenclature and syntax for ClinVar pathogenic variants across annotation tools.

Published in:

Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-025-00778-x

By:

Chen, Yu-An;
Yuan, Tzu-Hang;
Huang, Jia-Hsin;
Wang, Yu-Bin;
Hung, Tzu-Mao;
Chen, Chien-Yu;
Chen, Pei-Lung;
Hsu, Jacob Shujui

Publication type:

Article

Outcomes of genetic testing for Usher syndrome in a diverse population cohort from South Florida.

Published in:

Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-025-00775-0

By:

Cromar, Zachary J.;
Chen, Ryan;
Riesgo, Tamara Juvier;
Yan, Denise;
Verma, Lindsay Dawn;
Chen, Zhengyi;
Blanton, Susan H.;
Lam, Byron L.;
Liu, Xue Zhong

Publication type:

Article

CHEK1 variant is a risk factor for premature ovarian insufficiency by mis- regulating metabolism and inflammation-related genes.

Published in:

Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-025-00774-1

By:

Guo, Jianying;
Fan, Yali;
Song, Zifan;
Li, Lin;
Fu, Meng

Publication type:

Article

Correlation between clinical classification and genetic analysis of familial hypercholesterolemia in premature coronary artery disease in a cohort of Egyptian patients.

Published in:

Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-025-00769-y

By:

Zahwo, Rania A.;
Rezk, Ziad N.;
Elwasify, Tamer M.;
Zaki, Amr M.;
El Assi, Hoda M.;
Ramadan, Eman;
Habib, Abdallah Y.;
Hassan, Wael A.;
Abdel-Raouf, Ahmed;
Ragheb, Ameera;
Shaker, Amin F.;
Amer, Khaled E.;
Kassem, Heba Sh.

Publication type:

Article

Improved breast cancer risk prediction using chromosomal-scale length variation.

Published in:

Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-025-00776-z

By:

Fatapour, Yasaman;
Brody, James P.

Publication type:

Article

Human Genomics Brief Reports: embracing concise dissemination for rapid and impactful discoveries.

Published in:

Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-025-00777-y

By:

Vasiliou, Vasilis;
Reichardt, Juergen K.V.;
Ali, Bassam R.

Publication type:

Article

Parents' perspectives on expanded newborn genomic screening in Abu Dhabi, United Arab Emirates.

Published in:

Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-025-00766-1

By:

Elhadi, Yasir Ahmed Mohammed;
Alkatheeri, Marwa;
Alktifan, Maryam;
Alhammadi, Fatma;
Sultan, Taif;
Alqumboz, Yousef M. Abu;
Jihad, Ahmed;
Shaidul, M. Islam;
Al Saadi, Mohammed;
Alkaabi, Meera Saeed Nhayah;
Almaamari, Khalid;
Alseiari, Khalifa;
Alshamsi, Naser;
Alzaabi, Omar;
Al Tamimi, Saoud;
Alameri, Mohamed Salem;
Masuadi, Emad;
Rahma, Azhar T.

Publication type:

Article

Proof of principle concept for the analysis and functional prediction of rare genetic variants in the CYP2C19 and CYP2D6 genes.

Published in:

Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-025-00765-2

By:

Johansson, Inger;
Lu, Yuchen;
Zhou, Yitian;
Krebs, Kristi;
Akcan, Martina;
Milani, Lili;
Ingelman-Sundberg, Magnus

Publication type:

Article

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

CLPP Gene Variants Causing Perrault Syndrome Type 3 in Han Chinese Families: A Genotype-Phenotype Study.

Published in:

Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-025-00762-5

By:

Long, Xicui;
Yang, Bingqian;
Wang, Wei;
Peng, Wan;
Wang, Xiaolu;
Xiong, Wenyu;
Liu, Man;
Yuan, Huijun;
Lu, Yu

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

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

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

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

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

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 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

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 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

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

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

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

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

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

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