Works in BMC Medical Genomics, 2025, Vol 18, Issue 1

Results: 122

Genetic etiology of 283 Chinese individuals with epilepsy using copy number variation sequencing and whole exome sequencing: a single-center cohort study.

Published in:

BMC Medical Genomics, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s12920-025-02184-7

By:

Hu, Junji;
Xin, Min;
Liu, Jinxiu;
Li, Hongxing;
Li, Xuemei;
Chen, Longchang;
Yang, Ping;
Zhao, Haiyan;
Sun, Pengfei;
Gao, Guodong;
Feng, Hu;
Li, Zhongxia;
Xiao, Guang;
Li, Yu;
Li, Kun;
Xu, Xinsheng

Publication type:

Article

Hereditary kidney disease with auditory abnormalities: analysis of mutations and clinical phenotypes.

Published in:

BMC Medical Genomics, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s12920-025-02178-5

By:

Bi, Jingru;
Guo, Wenkai;
Ji, Pengcheng;
Xie, Yuansheng

Publication type:

Article

Integrated analysis reveals key circRNA-mediated regulatory axes related to prognosis and immune infiltration in lung adenocarcinoma.

Published in:

BMC Medical Genomics, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s12920-025-02182-9

By:

Pei, Yan;
Lin, Kang

Publication type:

Article

Epidemiological factors associated with the prevalence of mobile genetic elements, and antimicrobial resistance patterns in Klebsiella pneumoniae of farm environments in Bangladesh.

Published in:

BMC Medical Genomics, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s12920-025-02181-w

By:

Rahman, Md Hafizur;
Akther, Sonia;
Ahmed, Shihab;
Shahadat, Md. Niamul;
Munsi, Md Nuruzzaman;
Siddique, Abu Bakkar

Publication type:

Article

Antibiotic resistance genes circulating in Nigeria: a systematic review and meta-analysis from the One Health perspective.

Published in:

BMC Medical Genomics, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s12920-025-02163-y

By:

Ugbo, Emmanuel N.;
Kotey, Fleischer C. N.;
Donkor, Eric S.

Publication type:

Article

Driver mutations and malignant pleural effusion in non-small cell lung cancer.

Published in:

BMC Medical Genomics, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s12920-025-02180-x

By:

Temel, Ugur;
Derdiyok, Onur

Publication type:

Article

Association of the pri-miR-34b/c rs4938723 T > C polymorphism with hepatoblastoma susceptibility in Eastern Chinese children: A five-center case-control study.

Published in:

BMC Medical Genomics, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s12920-025-02179-4

By:

Zhang, Wenli;
Zhu, Jinhong;
Bian, Jun;
Zhou, Chunlei;
Zhang, Shouhua;
He, Shaohua;
Lu, Hongting;
Wang, Yizhen;
He, Jing

Publication type:

Article

From gene expression to causal associations: investigating the role of ferroptosis in cataract development.

Published in:

BMC Medical Genomics, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s12920-025-02177-6

By:

Li, Chen;
Yuan, Xian-bing;
Lu, Yi-cheng;
Song, Zi-yue

Publication type:

Article

Identification of mitophagy-related biomarkers with immune cell infiltration in psoriasis.

Published in:

BMC Medical Genomics, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s12920-025-02176-7

By:

Yu, Shanshan;
Long, Fangyuan;
Yan, Hui;
Xu, Yongfang;
Li, Jun;
Hao, Zhimin

Publication type:

Article

Molecular characterization, clinical phenotype, and neurological outcome of twelve Palestinian children with beta-ketothiolase deficiency: report of two novel variants in the ACAT1 gene.

Published in:

BMC Medical Genomics, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s12920-025-02175-8

By:

Dweikat, Imad M.;
Abdul-Hafez, Hamza A.;
Zayed, Alaa;
Kanaan, Moien;
Kasem, Hanin;
Bzour, Rami

Publication type:

Article

Identification of potential biomarkers and mechanisms for keloid disorder based on comprehensive bioinformatics analysis and machine learning algorithms.

Published in:

BMC Medical Genomics, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s12920-025-02174-9

By:

Zheng, Bowen;
Qiao, Jianxiong;
Yu, Xiaoping;
Zhou, Hanghang;
Wang, Anqi;
Zhang, Xuanfen

Publication type:

Article

Investigating the molecular mechanisms, drug prediction, and validation of CCNA2 and MAD2L1 in esophageal squamous cell carcinoma based on bioinformatics.

Published in:

BMC Medical Genomics, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s12920-025-02173-w

By:

Guo, Chenfan;
Wang, Pandeng;
Huang, Diemei;
Guo, Jianji;
Liu, Tao

Publication type:

Article

Expression analysis of LINC00671 and LINC01913 long non-coding RNAs in gastric cancer patients and their correlation with EMT markers.

Published in:

BMC Medical Genomics, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s12920-025-02156-x

By:

Taghavinia, Fatemeh;
Taghehchian, Negin;
Salahshourifar, Iman;
Abbaszadegan, Mohammad Reza

Publication type:

Article

A case of congenital heart defects and familial exudative vitreoretinopathy caused by activation of a cryptic splice donor in NOTCH1.

Published in:

BMC Medical Genomics, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s12920-025-02160-1

By:

Farris, Joseph;
Dergam-Larson, Camila;
Lopour, Madeline;
Darr, Kahlen;
Schimmenti, Lisa A.;
Scruggs, Brittni A.;
Lambert, Laura J.;
Klee, Eric W.

Publication type:

Article

RNAcare: integrating clinical data with transcriptomic evidence using rheumatoid arthritis as a case study.

Published in:

BMC Medical Genomics, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s12920-025-02162-z

By:

Tang, Mingcan;
Haese-Hill, William;
Morton, Fraser;
Goodyear, Carl;
Porter, Duncan;
Siebert, Stefan;
Otto, Thomas D.

Publication type:

Article

Putative function and prognostic molecular marker of mast cells in colorectal cancer.

Published in:

BMC Medical Genomics, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s12920-025-02117-4

By:

Guo, Jiani;
Chen, Jie;
Wang, Yiting;
Bai, Xiaoming;
Feng, Haimei;
Sheng, Siqi;
Wang, Hongyu;
Xu, Ke;
Huang, Mengxi;
Lei, Zengjie;
Chu, Xiaoyuan

Publication type:

Article

Exome-wide association study reveals 7 functional variants associated with ex-vivo drug response in acute myeloid leukemia patients.

Published in:

BMC Medical Genomics, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s12920-025-02130-7

By:

Giri, Anil K.;
Lin, Jake;
Kyriakidis, Konstantinos;
Tripathi, Garima;
Almusa, Henrikki

Publication type:

Article

Novel compound heterozygous DOCK6 variants expand the mutational spectrum in prenatal diagnosis of Adams-Oliver syndrome 2.

Published in:

2025

By:

Zhong, Xue;
Zheng, Xuan;
Xv, Yinglei;
Cai, Kangxi;
Wang, Qianqian;
Liu, Shiguo

Publication type:

Case Study

MicroRNA-486: a dual-function biomarker for diagnosis and tumor immune microenvironment characterization in non-small cell lung cancer.

Published in:

BMC Medical Genomics, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s12920-025-02158-9

By:

Yu, Jun;
Shen, Yi;
Xu, Yao;
Feng, Zhengyang;
Shen, Yuntian;
Zhu, Yaqun;
Huan, Jian;
Peng, Qiliang

Publication type:

Article

Chromosomal instability by low-coverage whole-genome sequencing assay predicts prognosis in bladder cancer patients underwent radical cystectomy.

Published in:

BMC Medical Genomics, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s12920-025-02172-x

By:

Ding, Qi;
Zhu, Hailiang;
Fan, Bo;
Wang, Lisheng;
Jin, Xiaohua;
Cao, Cheng;
Shi, Ying;
Fan, Zhijiang;
Tu, Wenjian;
Li, Feng

Publication type:

Article

ABO exon polymorphisms are related to ischemic stroke in a Chinese Han population.

Published in:

BMC Medical Genomics, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s12920-025-02170-z

By:

Zhong, Yi;
Lin, Mei;
Zhou, Xiaoli;
He, Chanyi;
Lin, Qi;
Li, Quanni;
Ding, Yipeng

Publication type:

Article

MDA5 variants trade antiviral activity for protection from autoimmune disease.

Published in:

BMC Medical Genomics, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s12920-025-02171-y

By:

Wallace, Chris;
Singh, Rahul;
Modis, Yorgo

Publication type:

Article

Influence of genetic factors of humans, mosquitoes and parasites, on the evolution of Plasmodium falciparum infections, malaria transmission and genetic control methods: a review of the literature.

Published in:

BMC Medical Genomics, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s12920-025-02165-w

By:

Nikiema, Seni;
Soulama, Issiaka;
Ampofo, Gifty Dufie;
Nikiema, Moustapha;
Zouré, Abdou Azaque;
Sombié, Salif;
Sawadogo, Salam;
Ouedraogo, Nicolas;
Sermé, Samuel Sindie;
Sawadogo, Haffsatou;
Ily, Raïssa;
Tibiri, Guillène Y. N.;
Zouré, Djamila O. A.;
Yanogo, Nassandba Julien;
Kaboré, Farida C. A.;
Tchekounou, Chanolle;
Zida, Adama;
Tao, Issoufou;
Ouedraogo, Oumarou;
Zongo, Dramane

Publication type:

Article

Genome-to-genome analysis reveals associations between human and mycobacterial genetic variation in tuberculosis patients from Tanzania.

Published in:

BMC Medical Genomics, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s12920-025-02164-x

By:

Xu, Zhi Ming;
Zwyer, Michaela;
Hiza, Hellen;
Schmidiger, Sarah;
Sasamalo, Mohamed;
Reinhard, Miriam;
Doetsch, Anna;
Borrell, Sonia;
Naret, Olivier;
Rüeger, Sina;
Lawless, Dylan;
Tang, Simon;
Isihaka, Faima;
Temba, Hosiana;
Maroa, Thomas;
Naftari, Rastard;
Beisel, Christian;
Hella, Jerry;
Reither, Klaus;
Brites, Daniela

Publication type:

Article

CCDC22 mutations that impair COMMD binding cause attenuated 3C/Ritscher-Schinzel syndrome.

Published in:

BMC Medical Genomics, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s12920-025-02168-7

By:

Singla, Amika;
Rogers, Carolyn;
Touma, Mary-Joe;
El-Najjar, Yassin;
Colley, Alison;
Boesch, Daniel J.;
Billadeau, Daniel D.;
Gecz, Jozef;
Chen, Baoyu;
Burstein, Ezra

Publication type:

Article

Defining three dimensional chromatin structures of pediatric and adolescent B cells using primary B cell and EBV-immortalized B cell reference genomes.

Published in:

BMC Medical Genomics, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s12920-025-02166-9

By:

Jiang, Kaiyu;
Fu, Yao;
Kelly, Jennifer A.;
Gaffney, Patrick M.;
Holmes, Lucy C.;
Jarvis, James N.

Publication type:

Article

Different mutations in TBL1XR1 lead to diverse phenotypes of neurodevelopmental disorder: two case reports.

Published in:

BMC Medical Genomics, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s12920-025-02169-6

By:

Wei, Linlin;
Yang, Yonghui;
Jiang, Tiejia;
Zhang, Chaolang;
Chen, Cuiying;
Huang, Mingwei;
Li, Nannan;
Xiong, Huachun;
Gao, Feng

Publication type:

Article

Comprehensive analysis of a novel LYST mutation in a Tunisian patient with Chediak-Higashi syndrome.

Published in:

BMC Medical Genomics, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s12920-025-02145-0

By:

Amri, Yessine;
Chouchene, Saoussen;
Foddha, Hajer;
Abderahmene, Amani;
Kooli, Ikbel;
Toumi, Adnen;
Hadj Khalifa, Kawthar;
Mezrigui, Rihem;
Messaoud, Taieb;
Hassine, Mohsen;
Dabboubi, Rym

Publication type:

Article

Spectrum of genetic alterations in patients with peroxisome biogenesis defects in the Iranian population: a case series study.

Published in:

BMC Medical Genomics, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s12920-025-02126-3

By:

Khalilian, Sheyda;
Fathi, Mohadeseh;
Jamshidi, Sanaz;
Madannejad, Rasoul;
Sayad, Arezou;
Ghafouri-Fard, Soudeh;
Miryounesi, Mohammad

Publication type:

Article

Putative function and prognostic molecular marker of mast cells in colorectal cancer.

Published in:

BMC Medical Genomics, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s12920-025-02117-4

By:

Guo, Jiani;
Chen, Jie;
Wang, Yiting;
Bai, Xiaoming;
Feng, Haimei;
Sheng, Siqi;
Wang, Hongyu;
Xu, Ke;
Huang, Mengxi;
Lei, Zengjie;
Chu, Xiaoyuan

Publication type:

Article

Deep clinical and genetic analysis of 17p13.3 region: 38 pediatric patients diagnosed using next-generation sequencing and literature review.

Published in:

BMC Medical Genomics, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s12920-025-02155-y

By:

Ji, Xiaoshan;
Xu, Qiong;
Lu, Yulan;
Liu, Bo;
Xiao, Feifan;
Ni, Qi;
Xu, Suzhen;
Liu, Renchao;
Li, Gang;
Wu, Bingbing;
Zhou, Shuizhen;
Wang, Huijun

Publication type:

Article

Association of Calpain-10 gene polymorphisms with Type 2 diabetes mellitus: a case-control study from a tertiary care hospital in Pakistan.

Published in:

BMC Medical Genomics, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s12920-025-02152-1

By:

Farooqi, Humaira;
Choudhry, Nakhshab;
Saddique, Muhammad Nabeel;
Qamar, Samina;
Dar, Rehma;
Kazmi, Salman;
Gondal, Aamir Jamal;
Yasmin, Nighat;
Javaid, Hammad;
Nahla, Ursula Abu

Publication type:

Article

N<sup>6</sup>-methyladenosine RNA base modification regulates NKG2D-dependent and cytotoxic genes expression in natural killer cells.

Published in:

BMC Medical Genomics, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s12920-025-02147-y

By:

Elsabbagh, Raghda A.;
Abdelhady, Ghada;
Urlaub, Doris;
Sandusky, Mina;
Khorshid, Ola;
Gad, Mohamed Z.;
Abou-Aisha, Khaled;
Watzl, Carsten;
Rady, Mona

Publication type:

Article

Predicting breast cancer risk and its association to biopsychosocial factors among Taiwanese women with a family history of breast cancer: an investigation based on the Gail model.

Published in:

BMC Medical Genomics, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s12920-025-02149-w

By:

Khairi, Sabiah;
Aini, Nur;
Siswanto, Lalu Muhammad Harmain;
Chung, Min-Huey

Publication type:

Article

Dynamic clustering of genomics cohorts beyond race, ethnicity—and ancestry.

Published in:

BMC Medical Genomics, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s12920-025-02154-z

By:

Mohsen, Hussein;
Blenman, Kim;
Emani, Prashant S.;
Morris, Quaid;
Carrot-Zhang, Jian;
Pusztai, Lajos

Publication type:

Article

Discovering diabetes complications-related microRNAs: meta-analyses and pathway modeling approach.

Published in:

BMC Medical Genomics, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s12920-025-02144-1

By:

Yin, Ruiyang;
Zhang, Yanjiao;
Fang, Xinyi;
Zhang, Yuxin;
Miao, Runyu;
Yao, Yiqi;
Guan, Huifang;
Tian, Jiaxing

Publication type:

Article

Exome sequencing revealed a novel homozygous variant in TRMT61 A in a multiplex family with atypical Cornelia de Lange Syndrome from Rwanda.

Published in:

BMC Medical Genomics, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s12920-025-02153-0

By:

Uwibambe, Esther;
Yalcouyé, Abdoulaye;
Aboagye, Elvis Twumasi;
Xhakaza, Lettilia;
Popel, Kalinka;
Dukuze, Norbert;
Bharadwaj, Thashi;
de Kock, Carmen;
Schrauwen, Isabelle;
Leal, Suzanne M.;
Mutesa, Leon;
Wonkam, Ambroise

Publication type:

Article

Transcriptomics-based exploration of ubiquitination-related biomarkers and potential molecular mechanisms in laryngeal squamous cell carcinoma.

Published in:

BMC Medical Genomics, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s12920-025-02148-x

By:

Chen, Qiu;
Wu, Zhimin;
Ma, Yifei

Publication type:

Article

Genetic analysis of three patients from two unrelated Chinese families with autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Published in:

BMC Medical Genomics, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s12920-025-02151-2

By:

Liu, Hui;
Li, Ranran;
Chen, Chen;
Shang, Lin;
Bai, Ying;
Chen, Duo;
Kong, Xiangdong;
Li, Qianqian

Publication type:

Article

Exploring the c.406 C > T variant in TNNI3 gene: pathogenic insights into restrictive cardiomyopathy.

Published in:

BMC Medical Genomics, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s12920-025-02150-3

By:

Masoumi, Tannaz;
Hesami, Hamed;
Maleki, Majid;
Kalayinia, Samira

Publication type:

Article

Comprehensive chromosomal abnormality detection: integrating CNV-Seq with traditional karyotyping in prenatal diagnostics.

Published in:

BMC Medical Genomics, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s12920-025-02139-y

By:

Huang, Yan;
Fu, Shuai;
Shao, Di;
Yao, Yanhua;
Wu, Fangyan;
Yao, Minrong

Publication type:

Article

The frequency of the ACTN3 polymorphism in Brazil: a systematic review and meta-analysis.

Published in:

BMC Medical Genomics, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s12920-025-02136-1

By:

Silvino, Valmir Oliveira;
Ferreira, Cirley Pinheiro;
Apaza, Helen Matias;
de Souza-Junior, Valtemir Silvino;
Ribeiro, Sérgio Luís Galan;
Almeida, Sandro Soares;
dos Santos, Marcos Antonio Pereira

Publication type:

Article

TPX2 promotes papillary renal cell carcinoma progression by forming a ceRNA with LINC00894.

Published in:

BMC Medical Genomics, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s12920-025-02120-9

By:

Ding, Zhenshan;
Ying, Wenwei;
Yan, Ye;
Zhao, Ying;
Liu, Cheng;
Ma, Lulin

Publication type:

Article

LIMA1 inhibits cisplatin resistance and malignant biological behavior of bladder cancer cells by suppressing the Wnt/β-catenin pathway.

Published in:

BMC Medical Genomics, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s12920-025-02146-z

By:

Lv, Zhong;
Zhao, Suchen;
Wu, Haoran

Publication type:

Article

Identification of intragenic variants in pediatric patients with intellectual disability in Peru.

Published in:

BMC Medical Genomics, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s12920-025-02141-4

By:

Abarca-Barriga, Hugo Hernán;
Vásquez Sotomayor, Flor;
Punil-Luciano, Renzo;
Laso-Salazar, María Cristina;
Barrón-Pastor, Heli Jaime

Publication type:

Article

Comprehensive analysis of diagnostic biomarkers related to histone acetylation in acute myocardial infarction.

Published in:

BMC Medical Genomics, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s12920-025-02135-2

By:

Li, Man;
Yang, Lifeng;
Wang, Yan;
Zhang, Lei

Publication type:

Article

CCT8 drives colorectal cancer progression via the RPL4-MDM2-p53 axis and immune modulation.

Published in:

BMC Medical Genomics, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s12920-025-02133-4

By:

Teng, Yangyang;
Lin, Hao;
Lin, Zijian;
Li, Xichen;
Ruan, Yejiao;
Pan, Binhui;
Ge, Jinlin;
Zhu, Yuesheng;
Lin, Daopo;
Ying, Qingji;
Cai, Zhenzhai;
Xia, Xuanping

Publication type:

Article

Causal associations between inflammatory bowel disease and sepsis: a two-sample Mendelian randomization study.

Published in:

BMC Medical Genomics, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s12920-025-02143-2

By:

Tong, Renyang;
Liang, Ziting;
Zhuo, Chengui;
Bai, Xueyang;
Dao, Ling;
Yu, Lu;
Li, Ling;
Tong, Zhaohui;
Du, Youyou;
Xu, Longwei

Publication type:

Article

FOSB is a key factor in the genetic link between inflammatory bowel disease and acute myocardial infarction: multiple bioinformatics analyses and validation.

Published in:

BMC Medical Genomics, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s12920-025-02129-0

By:

Fu, Qingan;
Shen, Tianzhou;
Qiu, Weihan;
Liao, Yanhui;
Yu, Miao;
Zhou, Yue

Publication type:

Article

Underrepresented populations in genomic research: a qualitative study of researchers' perspectives.

Published in:

BMC Medical Genomics, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s12920-025-02140-5

By:

Omeranovic, Arian;
Van Long, Flora Nguyen;
Boubaker, Asma;
Turgeon, Annie;
Nabi, Hermann

Publication type:

Article