"BMC Med Genomics"[Journal] - Search Results

Year	Number of Results
2008	64
2009	72
2010	62
2011	86
2012	66
2013	95
2014	95
2015	119
2016	74
2017	81
2018	126
2019	202
2020	195
2021	299
2022	276
2023	336
2024	294
2025	227
2026	71

1

Association of TP53 polymorphic variants rs1042522 and rs1642785 with susceptibility and prognosis of acute lymphoblastic leukemia in a Brazilian Amazon population.

Nogueira GM, Gonçalves LGM, Pereira-Ribeiro TL, Santos LS, Magalhães-Gama F, Araújo ND, Malheiro A, Tarragô AM, Alves-Hanna FS, Costa AG. Nogueira GM, et al. BMC Med Genomics. 2026 Apr 14. doi: 10.1186/s12920-026-02371-0. Online ahead of print. BMC Med Genomics. 2026. PMID: 41981649 Free article. No abstract available.

2

Advances in research on circadian rhythms and colorectal cancer.

Jia L, Zhu M, Wu X, Zheng W, Zhang Y, Xiao J. Jia L, et al. BMC Med Genomics. 2026 Apr 14. doi: 10.1186/s12920-026-02321-w. Online ahead of print. BMC Med Genomics. 2026. PMID: 41981628 Free article. Review. No abstract available.

3

CRABP2 upregulation in perichondral stem cells is associated with microtia.

Zhang J, Chu F, Hu X, Yang X, Lei S, He L, Wu D, Lin L, Jiang H. Zhang J, et al. BMC Med Genomics. 2026 Apr 13. doi: 10.1186/s12920-026-02370-1. Online ahead of print. BMC Med Genomics. 2026. PMID: 41975397 Free article. No abstract available.

4

Downward bias in the association between APOE and Alzheimer's disease using prevalent and by-proxy disease sampling in the All of Us research program.

Mansel CO, Ghisays V, Mahnken JD, Swerdlow RH, Reiman EM, Karnes JH, Denny JC, Veatch OJ. Mansel CO, et al. BMC Med Genomics. 2026 Apr 11. doi: 10.1186/s12920-026-02362-1. Online ahead of print. BMC Med Genomics. 2026. PMID: 41965633 Free article. No abstract available.

5

Prenatal phenotypic delineation of a de novo EYA1 likely pathogenic variant in branchio-oto-renal syndrome.

Sun L, Shu D, He W, Ma R, Tao H, Yang Z, Li Y, Liu Z, Zhang Y, Zhao Y. Sun L, et al. BMC Med Genomics. 2026 Apr 11. doi: 10.1186/s12920-026-02366-x. Online ahead of print. BMC Med Genomics. 2026. PMID: 41965611 Free article. No abstract available.

6

Genetic analysis reveals phenotypic variability in three Colombian families with dopa-responsive dystonia: novel genotype-phenotype correlations.

Lince-Rivera I, Martinez-Córdoba N, Ramón-Gómez JL, Cabarcas L, Zarante-Bahamón AM. Lince-Rivera I, et al. BMC Med Genomics. 2026 Apr 11. doi: 10.1186/s12920-025-02287-1. Online ahead of print. BMC Med Genomics. 2026. PMID: 41965601 Free article. No abstract available.

7

Alkaptonuria in two Colombian patients: identification of HGD variants including a novel finding.

León-Sanabria MC, Zarante-Bahamón AM. León-Sanabria MC, et al. BMC Med Genomics. 2026 Apr 10. doi: 10.1186/s12920-026-02344-3. Online ahead of print. BMC Med Genomics. 2026. PMID: 41963999 Free article. No abstract available.

8

Application of artificial intelligence in lung cancer diagnosis, therapy, and prognosis.

Wang J, Tian R, Liu J, Duan S, Zhang Y, Guo S. Wang J, et al. BMC Med Genomics. 2026 Apr 10. doi: 10.1186/s12920-026-02360-3. Online ahead of print. BMC Med Genomics. 2026. PMID: 41963934 Free article. Review. No abstract available.

9

Association between the IGFBP-3 rs2854744 polymorphism and cancer risk: a meta-analysis.

Sun D, Xu L, Chen Y, Wang W, Wang N, Hu G. Sun D, et al. BMC Med Genomics. 2026 Apr 10. doi: 10.1186/s12920-026-02355-0. Online ahead of print. BMC Med Genomics. 2026. PMID: 41963924 Free article. No abstract available.

10

DIAPH1 regulates the Wnt/β-catenin pathway resulting in microcephaly and visual impairment.

Wang D, Lai P, Wang K, Wu Z, Li X. Wang D, et al. BMC Med Genomics. 2026 Apr 10. doi: 10.1186/s12920-026-02364-z. Online ahead of print. BMC Med Genomics. 2026. PMID: 41963888 Free article.

11

CSTA and DDX24: potential biomarkers regulating ferroptosis in sepsis and their diagnostic value.

Shen X, Jin Y, Yang K, Qian X, Guo J. Shen X, et al. BMC Med Genomics. 2026 Apr 9. doi: 10.1186/s12920-026-02358-x. Online ahead of print. BMC Med Genomics. 2026. PMID: 41952180 Free article. No abstract available.

12

The first report of primary hypotonia with abnormal electromyogram and CBS mutation in a Chinese child.

Zhang Z, Xu S, Wu T, Xu W, Wu B, Yang C. Zhang Z, et al. BMC Med Genomics. 2026 Apr 6. doi: 10.1186/s12920-026-02357-y. Online ahead of print. BMC Med Genomics. 2026. PMID: 41943097 Free article. No abstract available.

13

The inverse relationship between copy number variation burden and age of onset of metabolic syndrome in Korean middle-aged adults.

Ko SH, Kim M, Shin D. Ko SH, et al. BMC Med Genomics. 2026 Apr 2. doi: 10.1186/s12920-026-02353-2. Online ahead of print. BMC Med Genomics. 2026. PMID: 41928242 Free article. No abstract available.

14

Associations of the gut microbiome and cardiometabolic risk in adolescence: the HOME study.

Arzu JL, Fleury ES, Cecil KM, Chen A, Lanphear BP, Yolton K, Buckley JP, Braun JM, Laue HE. Arzu JL, et al. BMC Med Genomics. 2026 Apr 2. doi: 10.1186/s12920-026-02359-w. Online ahead of print. BMC Med Genomics. 2026. PMID: 41928235 Free article. No abstract available.

15

Palmitoylation remodeling dictates HCC heterogeneity: implications for subtype-specific prognostication and targeting the YAP-RhoA axis.

Xu B, Dai J, Chen Z. Xu B, et al. BMC Med Genomics. 2026 Apr 2. doi: 10.1186/s12920-026-02356-z. Online ahead of print. BMC Med Genomics. 2026. PMID: 41923085 Free article. No abstract available.

16

A novel homozygous splicing variant in FREM1 expands the phenotypic spectrum of BNAR syndrome: functional validation and successful PGT-M.

Yan L, Liu Y, Zhang Y, Han C, Cao J, Zou J, Luo H, Li H. Yan L, et al. BMC Med Genomics. 2026 Apr 2. doi: 10.1186/s12920-026-02361-2. Online ahead of print. BMC Med Genomics. 2026. PMID: 41923049 Free article. No abstract available.

17

The association of periodontitis with telomere length: a meta-analysis.

Sun Q, Xiao J, Huo J. Sun Q, et al. BMC Med Genomics. 2026 Apr 1. doi: 10.1186/s12920-026-02323-8. Online ahead of print. BMC Med Genomics. 2026. PMID: 41923055 Free article. No abstract available.

18

A novel MYO6 variant identified in a Chinese family with autosomal dominant non-syndromic hearing loss.

Wang J, Zhu QW, Cui AM, Lou HQ. Wang J, et al. BMC Med Genomics. 2026 Apr 1. doi: 10.1186/s12920-026-02363-0. Online ahead of print. BMC Med Genomics. 2026. PMID: 41923037 Free article. No abstract available.

19

Long-read sequencing identifies complex structural variants in DMD patients.

Xie Y, Bao L, Yu X, Liu Y. Xie Y, et al. BMC Med Genomics. 2026 Mar 29. doi: 10.1186/s12920-026-02352-3. Online ahead of print. BMC Med Genomics. 2026. PMID: 41906116 Free article. No abstract available.

20

A case report of a family with MYH9 gene mutation-related disease in an ethnic minority group and literature review.

Yan X, Li Z, Huang S, Yang X, Chang M, Cheng Z, Zhou LT. Yan X, et al. BMC Med Genomics. 2026 Mar 28. doi: 10.1186/s12920-026-02347-0. Online ahead of print. BMC Med Genomics. 2026. PMID: 41904450 Free article. No abstract available.

21

A novel maternally inherited CDKN1C variant in a familial beckwith-wiedemann syndrome case: expanding the genotype-phenotype spectrum.

Wu S, Zhang Y, Zhang H, Yan X, Pi Y. Wu S, et al. BMC Med Genomics. 2026 Mar 26. doi: 10.1186/s12920-026-02351-4. Online ahead of print. BMC Med Genomics. 2026. PMID: 41888894 Free article. No abstract available.

22

Pharmacogenomic study of the effects of saxagliptin on glucose control and hypoglycemic events.

Pilon MO, de Denus S, Asselin G, Legault MA, Ngongang Kwandjang HB, Barhdadi A, Lemieux Perreault LP, Valois D, Mongrain I, Haefliger C, Paul DS, Pearson ER, Tardif JC, Dubé MP. Pilon MO, et al. BMC Med Genomics. 2026 Mar 26. doi: 10.1186/s12920-026-02348-z. Online ahead of print. BMC Med Genomics. 2026. PMID: 41882721 Free article. No abstract available.

23

Pathogenomics of multidrug-resistant Escherichia coli from bloodstream infections in South Africa.

Hetsa BA, Yeboah EEA, Ismail A, Essack SY, Amoako DG. Hetsa BA, et al. BMC Med Genomics. 2026 Mar 25. doi: 10.1186/s12920-026-02349-y. Online ahead of print. BMC Med Genomics. 2026. PMID: 41877132 Free article. No abstract available.

24

The genetic landscape of breast cancer in young women from Morocco: implications for diagnosis and treatment.

El Hejjioui B, Bouramtane A, Bouguenouch L, Elmakhzen B, Ahakoud M, Melhouf MA, Ouldim K, Bennis S. El Hejjioui B, et al. BMC Med Genomics. 2026 Mar 19. doi: 10.1186/s12920-026-02343-4. Online ahead of print. BMC Med Genomics. 2026. PMID: 41851691 Free article. No abstract available.

25

From gene to heart: the impact of a novel SGCD variant in familial dilated cardiomyopathy.

Kalayinia S, Poopak A, Soveizi M, Maleki M. Kalayinia S, et al. BMC Med Genomics. 2026 Mar 17. doi: 10.1186/s12920-026-02342-5. Online ahead of print. BMC Med Genomics. 2026. PMID: 41840602 Free article. No abstract available.

26

Unraveling the temporal dynamics of radiation-induced lung injury: a multi-omics integration of transcriptomic, proteomic, and metabolic reprogramming.

Wu D, Tang F, Zhang Y, Zhang X, Peng Y, Hou Y, Yang Z, Xu Z. Wu D, et al. BMC Med Genomics. 2026 Mar 12. doi: 10.1186/s12920-026-02345-2. Online ahead of print. BMC Med Genomics. 2026. PMID: 41814364 Free article. No abstract available.

27

Cellular senescence in gastric cancer: a novel prognostic stratification and immune predictor.

Wei CZ, Li YT, Lin ZH, Lin FZ, Chen XJ, Nie RC, Chen GM, Xue ZC, Zheng ZQ. Wei CZ, et al. BMC Med Genomics. 2026 Mar 11. doi: 10.1186/s12920-026-02346-1. Online ahead of print. BMC Med Genomics. 2026. PMID: 41808162 Free article. No abstract available.

28

Shared molecular signatures between atrial fibrillation and chronic obstructive pulmonary disease: an integrated bioinformatic analysis with experimental validation.

Zhou W, Tang Q, Chen D, Chen J, Shi L, Luo F, Yan F, Mao Y, Lu H, Zhou X, Chen Z, Li W. Zhou W, et al. BMC Med Genomics. 2026 Mar 11. doi: 10.1186/s12920-026-02335-4. Online ahead of print. BMC Med Genomics. 2026. PMID: 41808159 Free article. No abstract available.

29

Apolipoprotein D downregulation in OSCC: multi-database validation and clinical significance.

Wang S, Zhao J, Bai R, Ou J, Tang C, Hang J, Nong X. Wang S, et al. BMC Med Genomics. 2026 Mar 10. doi: 10.1186/s12920-025-02190-9. Online ahead of print. BMC Med Genomics. 2026. PMID: 41808079 Free article.

30

Evaluation and management of DMD gene copy number variations detected by prenatal SNP-array testing.

Hu J, Pang J, Hu R, Zhou L, Yu W, Xi H, Luo Y, Yang S, Tang W, Hu A, Chen J, Peng Y. Hu J, et al. BMC Med Genomics. 2026 Mar 6. doi: 10.1186/s12920-026-02333-6. Online ahead of print. BMC Med Genomics. 2026. PMID: 41792804 Free article. No abstract available.

31

Prenatal diagnosis and clinical evaluation of fetuses with structural X chromosome abnormalities: a ten-year single-center retrospective study.

Zhang L, Zhuang J, Chen W, Chen X, Huang N. Zhang L, et al. BMC Med Genomics. 2026 Mar 3;19(1):59. doi: 10.1186/s12920-026-02340-7. BMC Med Genomics. 2026. PMID: 41776513 Free PMC article.

32

Identification of novel compound heterozygote variants in the PCCB gene in a fetus with undetectable fetal phenotype.

Feng X, Hu Y, Yan H, Zhou L, Ma N, Xiong C, Xi H. Feng X, et al. BMC Med Genomics. 2026 Mar 3;19(1):60. doi: 10.1186/s12920-026-02338-1. BMC Med Genomics. 2026. PMID: 41776507 Free PMC article.

33

Genetic modulators of metabolic dysfunction-associated steatotic liver disease (MASLD) and their epistatic interactions: from in vitro and animal models to clinical outcomes.

Arriaga-González FG, de Jesús Castañeda-Córdova F, Díaz-Muñoz M, Hoare M, Adams DJ, Robles-Espinoza CD, Molina-Aguilar C. Arriaga-González FG, et al. BMC Med Genomics. 2026 Mar 2. doi: 10.1186/s12920-026-02332-7. Online ahead of print. BMC Med Genomics. 2026. PMID: 41772607 Free article. Review. No abstract available.

34

Association of VDR BsmI polymorphism and vitamin D status with osteoarthritis susceptibility.

Maaruf SM, Mohammad DK, Hassan TS, Aziz AD, Yashooa RK, Hassan HT, Agha SSF, Daham RNA, Aali MH, Mustafa SA. Maaruf SM, et al. BMC Med Genomics. 2026 Mar 2;19(1):58. doi: 10.1186/s12920-026-02339-0. BMC Med Genomics. 2026. PMID: 41772562 Free PMC article.

35

The functional minisatellite at the 3'-UTR of SLC6A3/DAT1 and dementia spectrum disorders: an association study in a population of Central Italy.

Torbidoni-Baldassari B, Guazzarini AG, Rezza G, Bastiani P, Cecchetti R, Mecocci P, Napolioni V. Torbidoni-Baldassari B, et al. BMC Med Genomics. 2026 Feb 28;19(1):57. doi: 10.1186/s12920-026-02341-6. BMC Med Genomics. 2026. PMID: 41761178 Free PMC article.

36

Single-cell RNA sequencing of adenoid cystic carcinoma of the breast reveals cellular heterogeneity and tumor microenvironment features.

Tang Z, Zhao J, Huang X, Liu Q, Wang Y, Zhang C, Li L. Tang Z, et al. BMC Med Genomics. 2026 Feb 27;19(1):55. doi: 10.1186/s12920-026-02329-2. BMC Med Genomics. 2026. PMID: 41761191 Free PMC article.

37

Short-term exposure of sleep deprivation male model rats to dutasteride promotes the discovery of gene profiles related to fertility impairments.

Zhang S, Li W, Zhang G. Zhang S, et al. BMC Med Genomics. 2026 Feb 26;19(1):53. doi: 10.1186/s12920-026-02336-3. BMC Med Genomics. 2026. PMID: 41742262 Free PMC article.

38

Identification of a novel signature in progression of non-small cell lung cancer based on HdWGCNA and in vitro validation.

Zhang K, Xia W, Li Y, Shi B, Yang W. Zhang K, et al. BMC Med Genomics. 2026 Feb 26;19(1):54. doi: 10.1186/s12920-026-02328-3. BMC Med Genomics. 2026. PMID: 41742201 Free PMC article.

39

Whole-exome sequencing for the genetic diagnosis of early-onset high myopia and associated hereditary eye disorders.

Han C, Wu S, Yang Y, Yang X, Li H. Han C, et al. BMC Med Genomics. 2026 Feb 25;19(1):51. doi: 10.1186/s12920-026-02334-5. BMC Med Genomics. 2026. PMID: 41742148 Free PMC article.

40

The implementation of Next-Generation Sequencing (NGS) in a Brazilian Public Hospital: a systematic review of challenges and perspectives in oncology.

Elexias SRV, Lopes BA, Acatauassú R, Dos Santos LS, Castro T, Chantre-Justino M, Amadeu TP, Carrerette FB, Ornellas MH, Pinto FBR, Loureiro L, Huertas-Vazquez A, Santiago F. Elexias SRV, et al. BMC Med Genomics. 2026 Feb 25;19(1):52. doi: 10.1186/s12920-026-02326-5. BMC Med Genomics. 2026. PMID: 41736042 Free PMC article.

41

Differentially expressed exosome miRNA profiles as putative prognostic biomarkers for profound sudden sensorineural hearing loss.

Zhang H, Xie H, Cao Q, Chen P, Yan S, Zhang X, Gao P, Zhang Y. Zhang H, et al. BMC Med Genomics. 2026 Feb 24;19(1):56. doi: 10.1186/s12920-026-02330-9. BMC Med Genomics. 2026. PMID: 41736005 Free PMC article.

42

Diagnostic value of karyotyping, CMA/CNV-seq, and WES in fetuses with thickened nuchal translucency: perinatal and two-year follow-up outcomes.

Wang M, Ji Y, Xu Y, Sun S, Yang X, Sun L, Wu Q. Wang M, et al. BMC Med Genomics. 2026 Feb 21;19(1):50. doi: 10.1186/s12920-026-02331-8. BMC Med Genomics. 2026. PMID: 41723443 Free PMC article.

43

Hub genes and molecular mechanisms related to hypospadias based on transcriptome sequencing data and bioinformatics analysis.

Yao H, Fan Y, Li L, Zhang S, Du K, Yue J. Yao H, et al. BMC Med Genomics. 2026 Feb 21;19(1):49. doi: 10.1186/s12920-026-02327-4. BMC Med Genomics. 2026. PMID: 41721400 Free PMC article.

44

A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome.

Wang Y, Wang Q, Guan L, Jiang T, Wang D, Wu R, Gu C, Wang D, Zhu Y. Wang Y, et al. BMC Med Genomics. 2026 Feb 17;19(1):48. doi: 10.1186/s12920-026-02325-6. BMC Med Genomics. 2026. PMID: 41703530 Free PMC article.

45

Genetic insights into hepatocellular carcinoma: the role of VDR FokI (rs2228570) and TaqI (rs731236) polymorphisms in Egyptian patients.

Alrdahe SS, Darwish DBE, Albalawi AE, Omran AME, Almasaudi NM, Elsaid AM, Youssef MM. Alrdahe SS, et al. BMC Med Genomics. 2026 Feb 11;19(1):45. doi: 10.1186/s12920-026-02322-9. BMC Med Genomics. 2026. PMID: 41668036 Free PMC article.

46

A novel EVC2 splice-site variant expands the mutational and phenotypic spectrum of Weyers acrofacial dysostosis.

Chen A, Zhang W, Long P, Chen X, Zhang A, Zhu H, Zeng L, Xiong F, Wang J, Zhu S, Zhou P. Chen A, et al. BMC Med Genomics. 2026 Feb 10. doi: 10.1186/s12920-026-02317-6. Online ahead of print. BMC Med Genomics. 2026. PMID: 41664038 Free article. No abstract available.

47

Clinically actionable pharmacogenomic variants for anticancer therapy in Nigeria: first comprehensive variant profiling in underrepresented Nigerian cohorts.

Ukpe MP, Ezeanuka AC. Ukpe MP, et al. BMC Med Genomics. 2026 Feb 9;19(1):46. doi: 10.1186/s12920-026-02324-7. BMC Med Genomics. 2026. PMID: 41664142 Free PMC article.

48

Genome-wide profiling of salivary promoter-region DNA methylation in periodontitis: the Tromsø study.

Petrenya N, Jönsson B, Hadler-Olsen E, Larsson L, Flatberg A, Beisvåg V, Holde GE, Zykova SN, Asa'ad F. Petrenya N, et al. BMC Med Genomics. 2026 Feb 7. doi: 10.1186/s12920-026-02319-4. Online ahead of print. BMC Med Genomics. 2026. PMID: 41652412 Free article. No abstract available.

49

Successful experience with high-risk and family screening for Fabry disease in Ninghai County, Zhejiang Province, Eastern China: genotype‒phenotype analysis of the GLA IVS4 + 919G > A variant.

Ge Z, Mao J, Dai Z, Pan X, Lin K, Lu Z, Yang M, Lai T, Zhang H, Gong H, Li G, Hu Z. Ge Z, et al. BMC Med Genomics. 2026 Feb 5;19(1):43. doi: 10.1186/s12920-026-02314-9. BMC Med Genomics. 2026. PMID: 41645213 Free PMC article.

50

A novel homozygous ADAMTS10 frameshift variant in Weill-Marchesani syndrome in a Chinese family.

Li M, Bai R, Lian Y, Shu C, Li H, Sheng X. Li M, et al. BMC Med Genomics. 2026 Feb 4;19(1):44. doi: 10.1186/s12920-026-02308-7. BMC Med Genomics. 2026. PMID: 41639873 Free PMC article.

51

DMBX1 expression in colon cancer and its impact on prognosis and the tumor microenvironment.

Zhang K, Hu X, Chen J, Zhao Z, Yin X, Zhou L, Wang B. Zhang K, et al. BMC Med Genomics. 2026 Feb 3;19(1):42. doi: 10.1186/s12920-026-02320-x. BMC Med Genomics. 2026. PMID: 41634710 Free PMC article.

52

Cardiovascular-kidney-metabolic syndrome: candidate subtypes and genetic risk factors.

Donker HC, Bisht V, Dwivedi OP, Mueller S, Neijzen D, Ding Z, Lunter G. Donker HC, et al. BMC Med Genomics. 2026 Jan 31;19(1):47. doi: 10.1186/s12920-026-02315-8. BMC Med Genomics. 2026. PMID: 41620767 Free PMC article.

53

Designing inclusive newborn sequencing research: insights from parents in underrepresented communities.

Del Rosario MC, Walmsley SA, Harrison BW, Stephens CT, Zettler B, Rivera-Cruz G, Agrawal P, Brower A, Chigbu S, Christensen KD, Genetti CA, Givens R, Gold NB, Reeves IV, Schichter I, Shariat H, Simon S, Smith HS, Uveges M, Green RC, Holm IA, Pereira S. Del Rosario MC, et al. BMC Med Genomics. 2026 Jan 28;19(1):40. doi: 10.1186/s12920-026-02307-8. BMC Med Genomics. 2026. PMID: 41593648 Free PMC article.

54

Elucidating the mechanisms of bisphenols-induced male spermatogenesis disorder via network toxicology, molecular docking and bioinformatics.

Tian M, Wu Y, Tian M, Zhu L, Li G. Tian M, et al. BMC Med Genomics. 2026 Jan 27;19(1):39. doi: 10.1186/s12920-026-02318-5. BMC Med Genomics. 2026. PMID: 41593631 Free PMC article.

55

Discovery of new MicroRNAs and their mRNA targets in patients with acute ischemic stroke.

Eyileten C, Wicik Z, Gasecka A, Ahmadova S, Di Martino MT, Mucha J, Mirowska-Guzel D, De Rosa S, Kurkowska-Jastrzebska I, Czlonkowska A, Postula M. Eyileten C, et al. BMC Med Genomics. 2026 Jan 24;19(1):37. doi: 10.1186/s12920-025-02302-5. BMC Med Genomics. 2026. PMID: 41580787 Free PMC article.

56

Analysis of LRP1 gene mutation in developmental dysplasia of the hip: a case series.

Cheng T, Zhang W, Cheng H. Cheng T, et al. BMC Med Genomics. 2026 Jan 24;19(1):38. doi: 10.1186/s12920-026-02316-7. BMC Med Genomics. 2026. PMID: 41580695 Free PMC article.

57

The heterozygous c.2241G>C variation in FGFR2 may cause autosomal dominant Kirner's deformity in a Chinese Han pedigree.

Ma M, Li H, Wu X, Guo K, Chen S, Zhao S. Ma M, et al. BMC Med Genomics. 2026 Jan 22;19(1):36. doi: 10.1186/s12920-026-02312-x. BMC Med Genomics. 2026. PMID: 41572294 Free PMC article.

58

Clinical significance and impact on the cell behaviors of miR-758-5p/MMP-2 axis in ovarian cancer cells.

Gao Q, Li Y. Gao Q, et al. BMC Med Genomics. 2026 Jan 19;19(1):31. doi: 10.1186/s12920-025-02303-4. BMC Med Genomics. 2026. PMID: 41555418 Free PMC article.

59

TMEM201 regulates tumor malignancy and immune microenvironment in lower-grade glioma.

Shen F, Guo S. Shen F, et al. BMC Med Genomics. 2026 Jan 19;19(1):35. doi: 10.1186/s12920-026-02313-w. BMC Med Genomics. 2026. PMID: 41555358 Free PMC article.

60

First published report of the FLCN c.1222 C > T (p.Gln408Ter) variant in a Chinese family with Birt-Hogg-Dubé syndrome and literature review.

Huang S, Chen Z, Zhang L, Ding X, Miu K. Huang S, et al. BMC Med Genomics. 2026 Jan 19;19(1):32. doi: 10.1186/s12920-026-02311-y. BMC Med Genomics. 2026. PMID: 41549261 Free PMC article.

61

Decoding the diabetes-pancreatic adenocarcinoma connection: the critical role of PILRA in intermediate monocyte activity.

Lv C, Liu Z, Zhang S, Yang S, Wang G, Xiao J. Lv C, et al. BMC Med Genomics. 2026 Jan 17;19(1):33. doi: 10.1186/s12920-026-02310-z. BMC Med Genomics. 2026. PMID: 41546015 Free PMC article.

62

North Carolina primary care provider perspectives on expanded genomic screening in children.

Branch EK, Roberts MC, Waltz M, deJong NA, Milko LV, Foreman AK, Foss K, Giric S, Boynton MH, Berg JS, Schilling S. Branch EK, et al. BMC Med Genomics. 2026 Jan 16;19(1):30. doi: 10.1186/s12920-025-02306-1. BMC Med Genomics. 2026. PMID: 41540409 Free PMC article.

63

Benchmarking Illumina and Oxford Nanopore Technologies (ONT) sequencing platforms for whole genome sequencing of bacterial genomes and use in clinical microbiology.

Purushothaman S, Roloff T, Egli A, Seth-Smith HM. Purushothaman S, et al. BMC Med Genomics. 2026 Jan 15;19(1):34. doi: 10.1186/s12920-025-02305-2. BMC Med Genomics. 2026. PMID: 41540427 Free PMC article.

64

Single-cell sequencing-based analysis of CD4 + T-cell and B-cell heterogeneity in patients with lupus nephritis.

Cheng LL, Tang ZF, Li M, Chen JJ, Shang SS, Huang CB. Cheng LL, et al. BMC Med Genomics. 2026 Jan 15;19(1):29. doi: 10.1186/s12920-025-02277-3. BMC Med Genomics. 2026. PMID: 41540405 Free PMC article.

65

Cytogenetics in the genomics era: why karyotyping still matters.

Chebly A. Chebly A. BMC Med Genomics. 2026 Jan 14;19(1):10. doi: 10.1186/s12920-025-02296-0. BMC Med Genomics. 2026. PMID: 41535841 Free PMC article.

66

Seminal long non-coding RNAs as prognostic non-invasive biomarkers in non-obstructive azoospermia.

Abdallah HY, Hosny N, Ahmed N, Ismail EA. Abdallah HY, et al. BMC Med Genomics. 2026 Jan 13;19(1):22. doi: 10.1186/s12920-025-02207-3. BMC Med Genomics. 2026. PMID: 41530831 Free PMC article.

67

CDK9 Inhibition with enitociclib reveals influence on HERV and LINE RNA abundances in whole blood, T-, and B-Cell lines.

Dopkins N, Michael S, Liotta N, Roldan FS, Nixon DF. Dopkins N, et al. BMC Med Genomics. 2026 Jan 13;19(1):27. doi: 10.1186/s12920-026-02309-6. BMC Med Genomics. 2026. PMID: 41530765 Free PMC article.

68

Identification and validation of PANoptosis-related genes in ankylosing spondylitis.

Shan Z, Li J, Mu X, Zhang J, Ren S. Shan Z, et al. BMC Med Genomics. 2026 Jan 12;19(1):28. doi: 10.1186/s12920-025-02301-6. BMC Med Genomics. 2026. PMID: 41526902 Free PMC article.

69

Identification of differentially expressed genes associated with tracheal injury recovery in a rabbit model of septic shock.

Zhang P, Lu H, Li X, Tian Y, Tian W, Ma S, Liu C, Liu X, Huang L. Zhang P, et al. BMC Med Genomics. 2026 Jan 7;19(1):41. doi: 10.1186/s12920-025-02304-3. BMC Med Genomics. 2026. PMID: 41495808 Free PMC article.

70

Defining an approach to empower clinical geneticists to do genomic reanalysis.

Segal MM, McEntagart M, Deng AT, Haworth A, King B, Rogers A, Filby J, Short J, Hash MG, Rives LC, Ezell KM; Undiagnosed Diseases Network; Phillips JA 3rd. Segal MM, et al. BMC Med Genomics. 2026 Jan 5;19(1):4. doi: 10.1186/s12920-025-02293-3. BMC Med Genomics. 2026. PMID: 41491999 Free PMC article.

71

Association between PNPLA3 rs738409 and susceptibility to etiology-specific liver cirrhosis: a systematic review and meta-analysis.

Yang S, Cheng A. Yang S, et al. BMC Med Genomics. 2026 Jan 5;19(1):2. doi: 10.1186/s12920-025-02278-2. BMC Med Genomics. 2026. PMID: 41491174 Free PMC article.

72

Overexpression of cancer testis antigens in gastric cancer and their correlations with the patients' clinicopathological characteristics.

Alimardani M, Rahimi H, Ghasemi A, Moghbeli M, Gholamin M, Abbaszadegan MR. Alimardani M, et al. BMC Med Genomics. 2025 Dec 31;19(1):25. doi: 10.1186/s12920-025-02295-1. BMC Med Genomics. 2025. PMID: 41469662 Free PMC article.

73

Exploring the genetic landscape of COVID-19 susceptibility and severity among patients in Türkiye.

Er AG, Çakır Y, Er B, Burduroğlu HC, Çakmak M, Özışık L, Tanrıöver MD, Topeli A, Son YA, Ünal S. Er AG, et al. BMC Med Genomics. 2025 Dec 30;19(1):26. doi: 10.1186/s12920-025-02200-w. BMC Med Genomics. 2025. PMID: 41466405 Free PMC article.

74

Genetic disorders caused by consanguineous marriage in Radfan districts - Yemen.

Mehdi MAH, Ali NT, Saleh R. Mehdi MAH, et al. BMC Med Genomics. 2025 Dec 24;18(1):199. doi: 10.1186/s12920-025-02267-5. BMC Med Genomics. 2025. PMID: 41444567 Free PMC article.

75

Chromosome structural variation analysis reveals lung cancer-associated gene regulatory networks in rheumatoid arthritis patients.

Li H, Ding L, Liao R, Li N, Hong X, Jiang Z, Liu D. Li H, et al. BMC Med Genomics. 2025 Dec 23;19(1):23. doi: 10.1186/s12920-025-02273-7. BMC Med Genomics. 2025. PMID: 41437054 Free PMC article.

76

A novel Bi-Allelic pathogenic MCOLN1 variant underlying mucolipidosis type IV in an Iranian family: clinical, genetic, and molecular dynamics-based structural analysis.

Mohsenipour M, Nejati P, Khosravi T, Alimoradi E, Salehi M, Oladnabi M, Alibakhshi R. Mohsenipour M, et al. BMC Med Genomics. 2025 Dec 22;18(1):198. doi: 10.1186/s12920-025-02271-9. BMC Med Genomics. 2025. PMID: 41430707 Free PMC article.

77

Expanding the clinical phenotype of DYNC1H1 -associated mutations: a Chinese family with autosomal dominant complex hereditary spastic paraplegia.

Yuan X, Zhang S, Tang Y. Yuan X, et al. BMC Med Genomics. 2025 Dec 22;19(1):24. doi: 10.1186/s12920-025-02298-y. BMC Med Genomics. 2025. PMID: 41430681 Free PMC article.

78

Construction and verification of a prognostic model for prostate cancer based on ribosome biogenesis-related genes.

Xie J, Tang Y, Wang Y, Gao X, Fu F, Liu Y, Yi C, Zhou G, Wang Z, Chen C, Jin P, Cai Y, Zhou J. Xie J, et al. BMC Med Genomics. 2025 Dec 19;18(1):196. doi: 10.1186/s12920-025-02262-w. BMC Med Genomics. 2025. PMID: 41419859 Free PMC article.

79

Molecular surveillance of antimalarial drug resistance genes in Nigeria: a systematic review and roadmap to malaria elimination.

Bamikole OJ, Fayehun AF, Uthman YA, Salako IA, Adedeji BA, Olufeagba MB, Amodu OK. Bamikole OJ, et al. BMC Med Genomics. 2025 Dec 18;18(1):195. doi: 10.1186/s12920-025-02246-w. BMC Med Genomics. 2025. PMID: 41413906 Free PMC article.

80

Novel LRF/ZBTB7A variants and known HbF-modulating SNPs in transfusion-dependent β-thalassemia.

Arikan Y, Mercan TK, Embel M, Kurtoglu E. Arikan Y, et al. BMC Med Genomics. 2025 Dec 18;18(1):194. doi: 10.1186/s12920-025-02275-5. BMC Med Genomics. 2025. PMID: 41413825 Free PMC article.

81

Novel TRIP12 variants in two Lebanese patients with neurodevelopmental delay.

Khalifeh S, Makhoul NJ, Trad S, Amro S, Siddik M, Bedran J, Boustany RM. Khalifeh S, et al. BMC Med Genomics. 2025 Dec 18;19(1):20. doi: 10.1186/s12920-025-02299-x. BMC Med Genomics. 2025. PMID: 41413819 Free PMC article.

82

Heterogeneity study on MiRNA expression in islet cells of rat pancreatic head and tail.

Lu X, Liu Y, Chen J, Huang P, Wang K, Han J. Lu X, et al. BMC Med Genomics. 2025 Dec 18;19(1):21. doi: 10.1186/s12920-025-02297-z. BMC Med Genomics. 2025. PMID: 41413515 Free PMC article.

83

Biobank participants' perspectives on receiving genetic risk information from a biobank - the case of haemochromatosis.

Clancy J, Forstén J, Koskinen E, Arvas M, Åberg F, Pitkänen K, Castrén J. Clancy J, et al. BMC Med Genomics. 2025 Dec 17;18(1):197. doi: 10.1186/s12920-025-02285-3. BMC Med Genomics. 2025. PMID: 41408552 Free PMC article.

84

A case study of a novel homozygous EDAR splice site variant in hypohidrotic ectodermal dysplasia with tooth agenesis: molecular dynamics insights.

Nejati P, Khosravi T, Lorestani S, Oladnabi M. Nejati P, et al. BMC Med Genomics. 2025 Dec 17;19(1):19. doi: 10.1186/s12920-025-02300-7. BMC Med Genomics. 2025. PMID: 41408253 Free PMC article.

85

Whole exome sequencing in pediatric hyperammonemia: significant diagnostic yield and identification of three novel variants.

Hajati R, Hashemian F, Salehpour S, Sayad A. Hajati R, et al. BMC Med Genomics. 2025 Dec 16;18(1):193. doi: 10.1186/s12920-025-02265-7. BMC Med Genomics. 2025. PMID: 41402828 Free PMC article.

86

Genomic surveillance and phylo-evolutionary analysis of SARS-CoV-2 variants in Osun state, Nigeria during the second wave of COVID-19 pandemic.

Akinde SB, Oyedara OO, Olumakinde TS, Olaniyan OP, Adeyemi FM, Bolarinwa RA, Adeagbo OY, Oluokun TE, Sule WF, Ojo OO, Iwalokun BA, Fajoyegbe ES, Oladipo EK, Oluwayelu DO, Wahab AA, Durosomo HA, Ajani TF, Adebunmi AA, Olayode O, Obire O, Olaitan JO. Akinde SB, et al. BMC Med Genomics. 2025 Dec 13;19(1):15. doi: 10.1186/s12920-025-02286-2. BMC Med Genomics. 2025. PMID: 41390807 Free PMC article.

87

Constructing anoikis-related signatures in glioma and identifying PLAU as a new prognostic biomarker.

Tong H, Zhang A, Tan R, Tan W, Shi Y, Zhu S, Zhang Z, Qiao D, Liu L, Zhao Z. Tong H, et al. BMC Med Genomics. 2025 Dec 13;19(1):18. doi: 10.1186/s12920-025-02288-0. BMC Med Genomics. 2025. PMID: 41390410 Free PMC article.

88

A pathway-informed mutual exclusivity framework to detect genetic interactions in pediatric cancer.

Spinou A, Gremmen R, Drost J, Kemmeren P. Spinou A, et al. BMC Med Genomics. 2025 Dec 12;19(1):14. doi: 10.1186/s12920-025-02289-z. BMC Med Genomics. 2025. PMID: 41388546 Free PMC article.

89

Sex differences in progressive multiple sclerosis brain gene expression in oligodendrocytes and OPCs.

LaBarre BA, King D, Ploumakis A, Pinzon AM, Guttmann CRG, Patsopoulos N, Chitnis T. LaBarre BA, et al. BMC Med Genomics. 2025 Dec 12;19(1):13. doi: 10.1186/s12920-025-02294-2. BMC Med Genomics. 2025. PMID: 41388417 Free PMC article.

90

RANK hypomethylation is associated with primary osteoporosis in elderly men in Xinjiang: a case-control study.

Maimaitiwusiman Z, Shang J, Xiang H, Bai X, Halan B, Wang H. Maimaitiwusiman Z, et al. BMC Med Genomics. 2025 Dec 10;19(1):12. doi: 10.1186/s12920-025-02282-6. BMC Med Genomics. 2025. PMID: 41372879 Free PMC article.

91

Genotypic and haplotype analysis of SOCS3 gene polymorphisms (rs4969169, rs12953258, rs1061489) in association with clinicopathological factors in breast cancer.

Alipeddi RR, Padala C, Puranam K, Ulaganathan K, Neeharika RD, Sampanmudumby P, Chinta SK, Hanumanth SR. Alipeddi RR, et al. BMC Med Genomics. 2025 Dec 10;19(1):16. doi: 10.1186/s12920-025-02284-4. BMC Med Genomics. 2025. PMID: 41372779 Free PMC article.

92

Hair follicle gene expression profiling in the SubPopulations and InteRmediate Outcome Measures in COPD Study (SPIROMICS).

Buschur KL, Martorella M, Garcia-Flores R, Smith BM, Ziosi M, Barjaktarevic I, Bleecker ER, Christenson SA, Comellas AP, Criner GJ, Dransfield MT, Hansel NN, Kaner RJ, Krishnan JA, Meyers DA, Oelsner EC, Ortega VE, Paine R 3rd, Woodruff PG, Barr RG, Lappalainen T. Buschur KL, et al. BMC Med Genomics. 2025 Dec 9;18(1):192. doi: 10.1186/s12920-025-02270-w. BMC Med Genomics. 2025. PMID: 41366429 Free PMC article.

93

Systematic annotation and analysis of susceptibility genes associated with vaccine adverse events.

Song Q, Su J, Pan C, Zhang X, Yang B, He Y, Xie J. Song Q, et al. BMC Med Genomics. 2025 Dec 8;19(1):11. doi: 10.1186/s12920-025-02292-4. BMC Med Genomics. 2025. PMID: 41361427 Free PMC article.

94

Role of gut microbiota metabolites against vein graft restenosis: insights from network pharmacology, molecular docking and molecular dynamic simulation.

Li Z, Liu X, Bai Y, Bai Y, Guo Z. Li Z, et al. BMC Med Genomics. 2025 Dec 8;19(1):17. doi: 10.1186/s12920-025-02290-6. BMC Med Genomics. 2025. PMID: 41361311 Free PMC article.

95

The rs34416841 polymorphism in the Alu element of the circSirt1 flanking intron is associated with an increased risk of myocardial infarction.

Zhou YL, Yang WC, Liao ZF, Zheng SR, Qu YF, Li H, Mo HL, Xie YT, Wu ZG, Xiong XD. Zhou YL, et al. BMC Med Genomics. 2025 Dec 6;19(1):9. doi: 10.1186/s12920-025-02291-5. BMC Med Genomics. 2025. PMID: 41353146 Free PMC article.

96

Prenatal therapies: a Points to Consider framework for responsible innovation.

Meslin EM, Kant C, Mazzuri S, Knoppers BM. Meslin EM, et al. BMC Med Genomics. 2025 Dec 5;18(1):191. doi: 10.1186/s12920-025-02274-6. BMC Med Genomics. 2025. PMID: 41345937 Free PMC article. Review.

97

Evaluating variants of uncertain significance in adult zebrafish via prime editing: a proof of concept with a COL1A2 variant.

Vanhooydonck M, Debaenst S, Vanbelleghem E, De Saffel H, Syx D, Sips P, Coucke PJ, Willaert A, Callewaert B. Vanhooydonck M, et al. BMC Med Genomics. 2025 Dec 2;19(1):7. doi: 10.1186/s12920-025-02281-7. BMC Med Genomics. 2025. PMID: 41331565 Free PMC article.

98

Identification of hub genes contributing to acute eczema using transcriptome sequencing and machine-learning approaches.

Zhao Y, Wang W, Li X, Ye X, Han X. Zhao Y, et al. BMC Med Genomics. 2025 Dec 1;19(1):5. doi: 10.1186/s12920-025-02283-5. BMC Med Genomics. 2025. PMID: 41327289 Free PMC article.

99

Limited value of Nanopore adaptive sampling in a long-read metagenomic profiling workflow of clinical sputum samples.

Xu W, Top J, Viveen MC, Slyzkyi A, Hermans N, van Erp S, Eiloz D, Anthony R, Kremer K, Schürch AC. Xu W, et al. BMC Med Genomics. 2025 Dec 1;19(1):8. doi: 10.1186/s12920-025-02272-8. BMC Med Genomics. 2025. PMID: 41327286 Free PMC article.

100

Prenatally diagnosed chromosome 1p36 deletions: a retrospective case series, literature review, and genotype-phenotype correlations.

Liu N, Liu Z, Yi S, Li M, Cai H. Liu N, et al. BMC Med Genomics. 2025 Dec 1;19(1):6. doi: 10.1186/s12920-025-02276-4. BMC Med Genomics. 2025. PMID: 41327254 Free PMC article.

101

PICALM polymorphisms are associated with susceptibility to parkinson's disease in the Northern Chinese Han population: a case-control study.

Yu R, Li Y, Cao Y, Kong Z, Zhou Y, Hou B, Xie A. Yu R, et al. BMC Med Genomics. 2025 Nov 27;19(1):3. doi: 10.1186/s12920-025-02280-8. BMC Med Genomics. 2025. PMID: 41310592 Free PMC article.

102

Deciphering copy number variations and gene implications in an Egyptian cohort with autism spectrum disorders.

Mohamed AM, Eid OM, Amr KS, Mahrous R, Hemimi M, Elsaeid A, Erian PSF, Gharib S, Hussein SH, El-Massieh PMA, Meguid NA. Mohamed AM, et al. BMC Med Genomics. 2025 Nov 27;18(1):190. doi: 10.1186/s12920-025-02250-0. BMC Med Genomics. 2025. PMID: 41299679 Free PMC article.

103

Advanced machine learning techniques for coronary artery disease risk prediction in early middle-aged adults.

Ntritsos G, Ornan E, Feldhay E, Chernin G, Evangelou E. Ntritsos G, et al. BMC Med Genomics. 2025 Nov 26;18(1):202. doi: 10.1186/s12920-025-02234-0. BMC Med Genomics. 2025. PMID: 41299655 Free PMC article.

104

Transcriptomic profiling of DYT-TOR1A patients-derived iPSC reveals dysregulation in extracellular matrix, lipid metabolism, and Chr22q11.23.

Setó-Salvia N, Houlden H, Warner TT. Setó-Salvia N, et al. BMC Med Genomics. 2025 Nov 26. doi: 10.1186/s12920-025-02249-7. Online ahead of print. BMC Med Genomics. 2025. PMID: 41299643 Free article.

105

Genetic crossroads of cardiovascular disease and its comorbidities: toward holistic therapeutic strategies.

Mishra BH, Mishra PP. Mishra BH, et al. BMC Med Genomics. 2025 Nov 26;19(1):1. doi: 10.1186/s12920-025-02279-1. BMC Med Genomics. 2025. PMID: 41299637 Free PMC article.

106

Long-read sequencing identifies a novel de novo inversion in SMARCC2 in a pediatric patient with Coffin-siris syndrome 8: a case report.

Ibrahim AA, Aamer W, Aliyev E, Al-Maraghi A, Elhag SF, Abdi M, Syed N, Palaniswamy S, Akil ASA, Kamal M, Fakhro KA. Ibrahim AA, et al. BMC Med Genomics. 2025 Nov 25;18(1):204. doi: 10.1186/s12920-025-02269-3. BMC Med Genomics. 2025. PMID: 41291750 Free PMC article.

107

Genetic spectrum of congenital cataract with optional ocular and multisystem abnormalities.

Zhang H, Li F, Liu Z, Chang P, Wang D, Zhao Y, Li S, Ding X, Zhang R, Zhao YE. Zhang H, et al. BMC Med Genomics. 2025 Nov 25;18(1):189. doi: 10.1186/s12920-025-02255-9. BMC Med Genomics. 2025. PMID: 41291698 Free PMC article.

108

The role of ITGA3 expression in predicting liver metastasis in patients with epithelial ovarian cancer.

Zhu K, Cheng T, Wang Y. Zhu K, et al. BMC Med Genomics. 2025 Nov 24;18(1):201. doi: 10.1186/s12920-025-02268-4. BMC Med Genomics. 2025. PMID: 41286938 Free PMC article.

109

First clinical report of a rare PDZD7 nonsense variant and recurrent mutations in Iranian families with autosomal recessive non-syndromic hearing loss.

Ghasemi H, Esmaeilzadeh E, Abghari FZ, Mohseni M, Akbarpoor E, Khorram Khorshid HR, Bazazzadegan N, Najafipour R. Ghasemi H, et al. BMC Med Genomics. 2025 Nov 24;18(1):200. doi: 10.1186/s12920-025-02257-7. BMC Med Genomics. 2025. PMID: 41276803 Free PMC article.

110

Performance testing for the sensitivity and resolution of low-pass WGS for small CNV detection.

Huang S, Li J, Liu D, Zou Y, Hang T, Yuan H, Yang Y, Li H, Dong M, Qian Y, Sun Y, Huang C, Bai G. Huang S, et al. BMC Med Genomics. 2025 Nov 22;18(1):203. doi: 10.1186/s12920-025-02263-9. BMC Med Genomics. 2025. PMID: 41272749 Free PMC article.

111

Clinical use of whole-genome sequencing in children with developmental delay or intellectual disability.

Xu J, Xu Y, Su W, Chen L, Wang Y, Li H. Xu J, et al. BMC Med Genomics. 2025 Nov 21;18(1):188. doi: 10.1186/s12920-025-02266-6. BMC Med Genomics. 2025. PMID: 41272673 Free PMC article.

112

Long-range PCR and Nanopore sequencing for localisation and phasing variants: an end-to-end clinical application workflow.

Jamshidi J, Rowntree C, Fadaee S, Zhang F, Zhu Y, Buckley M, Hart F, Roscioli T. Jamshidi J, et al. BMC Med Genomics. 2025 Nov 19;18(1):186. doi: 10.1186/s12920-025-02251-z. BMC Med Genomics. 2025. PMID: 41257875 Free PMC article.

113

Early alternative splicing signatures and RBP networks in MASLD progression to cirrhosis.

Chen L, Ma W, Hu Y, Qin Y, Zhao S, Yang J. Chen L, et al. BMC Med Genomics. 2025 Nov 19;18(1):185. doi: 10.1186/s12920-025-02233-1. BMC Med Genomics. 2025. PMID: 41257843 Free PMC article.

114

Improving newborn screening accuracy through genome sequencing, targeted metabolomics, and machine learning.

Xie Y, Peng G, Tikhonova I, Enns G, Zhao H, Cowan T, Scharfe C. Xie Y, et al. BMC Med Genomics. 2025 Nov 19;18(1):187. doi: 10.1186/s12920-025-02261-x. BMC Med Genomics. 2025. PMID: 41257776 Free PMC article.

115

Serum miR-141-3p serves as a biomarker for early-stage diagnosis of endometriosis.

Tan H, Liu D, Zhang K, Li H, Zhou H. Tan H, et al. BMC Med Genomics. 2025 Nov 18;18(1):184. doi: 10.1186/s12920-025-02238-w. BMC Med Genomics. 2025. PMID: 41254724 Free PMC article.

116

Machine learning-based screening and validation of pyroptosis-associated prognostic genes and potential drugs in cervical cancer.

Hou Z, Tang G, Chu H, Wang Z, Wang L. Hou Z, et al. BMC Med Genomics. 2025 Nov 14;18(1):183. doi: 10.1186/s12920-025-02260-y. BMC Med Genomics. 2025. PMID: 41239481 Free PMC article.

117

RNA sequencing provides functional insights and diagnostic resolution in previously unsolved rare disease cases.

Lewis RG, O'Shea JM, Pizzo L, Wen T, Fulmer ML, Zhao J, Verheijen J, Zhang C, Velinder M, Nicholas TJ, Boyden SE, Ward A, Baldwin EE, Andrews A, Ruiz JH, Marchetti M, Viskochil D, Carey JC, Bleyl SB, Butterfield RJ, Taliercio V, Botto LD, Mao R, Bayrak-Toydemir P; Undiagnosed Diseases Network. Lewis RG, et al. BMC Med Genomics. 2025 Nov 14;18(1):182. doi: 10.1186/s12920-025-02227-z. BMC Med Genomics. 2025. PMID: 41239373 Free PMC article.

118

Epigenetic profiles of response to transcranial magnetic stimulation in treatment resistant depression.

Dahrendorff J, Pages K, Currier G, Sarker MH, Graham Z, Louis-Jacques AF, Dagne G, Uddin M. Dahrendorff J, et al. BMC Med Genomics. 2025 Nov 12;18(1):181. doi: 10.1186/s12920-025-02240-2. BMC Med Genomics. 2025. PMID: 41225566 Free PMC article.

119

Targeted nanopore long-read sequencing panel for the molecular diagnosis of intronic expansion in familial adult myoclonic epilepsy.

Urabe H, Nakajima T, Mitsuhashi S, Ohta K, Fujinaka H, Goto K, Sato A. Urabe H, et al. BMC Med Genomics. 2025 Nov 11;18(1):180. doi: 10.1186/s12920-025-02247-9. BMC Med Genomics. 2025. PMID: 41219789 Free PMC article.

120

Prognostic evaluation of glycolysis markers in hepatocellular carcinoma: insights from meta-analysis and multi-omics approaches.

Li G, Li Y, Zhou J, Tang S, Guo H, Lin J. Li G, et al. BMC Med Genomics. 2025 Nov 8;18(1):179. doi: 10.1186/s12920-025-02253-x. BMC Med Genomics. 2025. PMID: 41206438 Free PMC article.

121

Identification of a VHL germline deletion in a family with Von Hippel-Lindau syndrome using MLPA-NGS.

Yang Y, Ren X, Xia C, Zhang Y, Song X, Tang X, Du C, Xu W, Weng W. Yang Y, et al. BMC Med Genomics. 2025 Nov 7;18(1):177. doi: 10.1186/s12920-025-02252-y. BMC Med Genomics. 2025. PMID: 41204220 Free PMC article.

122

Unravelling homozygous PLA2G6 variants in Pakistani individuals with diverse clinical manifestations via whole exome sequencing.

Khan H, Zahid M, Shabbir MI, Ahmed A, Khan B, Kiyani MM, Abualait T, Bashir S, Li HT. Khan H, et al. BMC Med Genomics. 2025 Nov 7;18(1):178. doi: 10.1186/s12920-025-02258-6. BMC Med Genomics. 2025. PMID: 41204171 Free PMC article.

123

A novel compound heterozygous variant in LAMA2 gene in a family with merosin-deficient congenital muscular dystrophy.

Nejati P, Falsafi N, Alimoradi E, Khosravi T, Kamari M, Oladnabi M, Alibakhshi R. Nejati P, et al. BMC Med Genomics. 2025 Nov 4;18(1):176. doi: 10.1186/s12920-025-02254-w. BMC Med Genomics. 2025. PMID: 41188926 Free PMC article.

124

The molecular complexity of deep vein thrombosis was preliminarily explored based on the ceRNA network, scRNA-seq and AlphaFold 2.

Pan BZ, Luo QY, Jiang MJ, Ning D, Deng LM, Dai XP, Wu ZX, Deng ZH, Luo DY, Wang YY, Chen J, Xiong GZ, Bi GS. Pan BZ, et al. BMC Med Genomics. 2025 Nov 4;18(1):175. doi: 10.1186/s12920-025-02239-9. BMC Med Genomics. 2025. PMID: 41188916 Free PMC article.

125

Correction: Exploring the prognostic landscape of oral squamous cell carcinoma through mitochondrial damage-related genes.

Wen W, Li R, Wang D, Chai L. Wen W, et al. BMC Med Genomics. 2025 Oct 30;18(1):174. doi: 10.1186/s12920-025-02243-z. BMC Med Genomics. 2025. PMID: 41168802 Free PMC article. No abstract available.

126

Novel EP300 and NSD1 variants in Chinese pediatric patients with Rubinstein-Taybi syndrome: evidence for oligogenic inheritance and phenotypic expansion.

Ningan X, Yefeng W, Xinghan W, Sha Z. Ningan X, et al. BMC Med Genomics. 2025 Oct 30;18(1):173. doi: 10.1186/s12920-025-02220-6. BMC Med Genomics. 2025. PMID: 41168794 Free PMC article.

127

The role of TEAD4 gene in the Hippo signaling pathway in triple-negative breast cancer and targeted therapy strategies.

Zhang X, Wang T, Lian X, Wei C, Yan D, Liang Y. Zhang X, et al. BMC Med Genomics. 2025 Oct 30;18(1):172. doi: 10.1186/s12920-025-02245-x. BMC Med Genomics. 2025. PMID: 41168787 Free PMC article.

128

Correction: MEIS1 knockdown upregulates WNT signaling pathway genes in esophageal squamous cell carcinoma.

Hosseini N, Forghanifard MM. Hosseini N, et al. BMC Med Genomics. 2025 Oct 29;18(1):171. doi: 10.1186/s12920-025-02264-8. BMC Med Genomics. 2025. PMID: 41163203 Free PMC article. No abstract available.

129

A novel frameshift variation of PKD1 in familial autosomal dominant polycystic kidney diseases: expanding the clinical phenotype and genetic spectrum of PKD1 disorders.

Chen Q, Shi L, Zhu X. Chen Q, et al. BMC Med Genomics. 2025 Oct 29;18(1):170. doi: 10.1186/s12920-025-02248-8. BMC Med Genomics. 2025. PMID: 41163060 Free PMC article.

130

Comprehensive analysis of metabolic and molecular alterations in the blood of patients with Sjögren's syndrome based on untargeted metabolomics analysis.

Liu J, Li Q, Sun X, Feng X, Xie M. Liu J, et al. BMC Med Genomics. 2025 Oct 29;18(1):169. doi: 10.1186/s12920-025-02256-8. BMC Med Genomics. 2025. PMID: 41162992 Free PMC article.

131

Genomic DNA methylation profile in peripheral blood of children with congenital biliary dilatation.

Wang C, Zheng Y, Wang Y, Feng Q. Wang C, et al. BMC Med Genomics. 2025 Oct 23;18(1):168. doi: 10.1186/s12920-025-02223-3. BMC Med Genomics. 2025. PMID: 41131608 Free PMC article.

132

Immunomodulation and iron dysregulation: exploring their roles in the pathogenesis of osteoarthritis.

Yang D, Ruan Y, Zheng S, Xu W, Hao J. Yang D, et al. BMC Med Genomics. 2025 Oct 22;18(1):167. doi: 10.1186/s12920-025-02206-4. BMC Med Genomics. 2025. PMID: 41126243 Free PMC article.

133

Expanding the phenotype of CARS1 variants to include congenital hyperinsulinism.

Sanders VR, Edmondson AC, Yan AC, De Leon DD. Sanders VR, et al. BMC Med Genomics. 2025 Oct 21;18(1):165. doi: 10.1186/s12920-025-02237-x. BMC Med Genomics. 2025. PMID: 41121266 Free PMC article.

134

PET/CT and exome sequencing in late onset multiple acyl-CoA dehydrogenase deficiency: a case series and literature review.

Lin DF, Sheng H, Qu Q, Liao ZT. Lin DF, et al. BMC Med Genomics. 2025 Oct 21;18(1):166. doi: 10.1186/s12920-025-02210-8. BMC Med Genomics. 2025. PMID: 41121198 Free PMC article.

135

Intractable thrombocytopenia in a patient with atypical ataxia-telangiectasia: a case report.

Gu C, Cui Q, Luo W, Zhang S, Shu J, Chen S. Gu C, et al. BMC Med Genomics. 2025 Oct 17;18(1):164. doi: 10.1186/s12920-025-02214-4. BMC Med Genomics. 2025. PMID: 41107934 Free PMC article.

136

Assessment of genetic and metabolite associations of branched chain amino acids with metabolic disease in the UK Biobank using Mendelian randomization.

Konarkowski J, Astore C, Gibson G. Konarkowski J, et al. BMC Med Genomics. 2025 Oct 16;18(1):163. doi: 10.1186/s12920-025-02232-2. BMC Med Genomics. 2025. PMID: 41102794 Free PMC article.

137

Multi-modal characteristics of LncRNA-derived subtypes in colorectal cancer.

Xiong M, Li J, Li X, Zhao J, Liu Q, Tu M, Zeng F. Xiong M, et al. BMC Med Genomics. 2025 Oct 16;18(1):162. doi: 10.1186/s12920-025-02242-0. BMC Med Genomics. 2025. PMID: 41102785 Free PMC article.

138

Intrauterine growth restriction induces persistent adipose inflammation and metabolic abnormalities in rats among various postnatal growth trajectories.

Hu Q, Zhang Z, Yang F, Fan Z, Li Y, Li P. Hu Q, et al. BMC Med Genomics. 2025 Oct 16;18(1):161. doi: 10.1186/s12920-025-02221-5. BMC Med Genomics. 2025. PMID: 41102701 Free PMC article.

139

Construction and validation of a lactylation-based gene signature for prognostic assessment and immune infiltration analysis in gastric adenocarcinoma.

Zeng Y, Zhuang G, Xie W, Guo S, Wu S, Chen J. Zeng Y, et al. BMC Med Genomics. 2025 Oct 14;18(1):160. doi: 10.1186/s12920-025-02244-y. BMC Med Genomics. 2025. PMID: 41088300 Free PMC article.

140

Single-cell RNA-seq combined with bulk RNA-seq analysis identifies necroptosis-related genes as therapeutic targets for periodontitis.

Zhu F, Xu M, Xiao Y, Yao H, Liu F, Shi S, Huang R, Wu Q, Deng X. Zhu F, et al. BMC Med Genomics. 2025 Oct 14;18(1):159. doi: 10.1186/s12920-025-02241-1. BMC Med Genomics. 2025. PMID: 41088263 Free PMC article.

141

An intron SNP rs666088 in SLIT2 increases the risk of acute coronary syndrome in an Iranian population.

Pakdaman P, Naderi N, Farshidi N, Farshidi H, Jafari Z, Rahimzadeh M. Pakdaman P, et al. BMC Med Genomics. 2025 Oct 14;18(1):157. doi: 10.1186/s12920-025-02224-2. BMC Med Genomics. 2025. PMID: 41088236 Free PMC article.

142

Three intronic variants altering RNA splicing were identified in the CLCN5 gene by minigene assay.

Qiao D, Liu X, Bottillo I, Zhang R, Shao L. Qiao D, et al. BMC Med Genomics. 2025 Oct 14;18(1):158. doi: 10.1186/s12920-025-02230-4. BMC Med Genomics. 2025. PMID: 41088181 Free PMC article.

143

Identification of radiation-sensitive genes as biomarkers for biodosimetry: an ex vivo analysis of TNFRSF10B, ZMAT3, POLH, and PLK2 in human blood samples.

Boogari M, Mozdarani H, Mahmoudzadeh A, Ebrahimi A. Boogari M, et al. BMC Med Genomics. 2025 Oct 10;18(1):156. doi: 10.1186/s12920-025-02209-1. BMC Med Genomics. 2025. PMID: 41074151 Free PMC article.

144

The role of genetic polymorphisms on drug response in Alzheimer's disease: a systematic review.

Climacosa FMM, Ornos EDB, Gapaz NCLL, Guantia MGR, Cruz JMC, Manalo RVM, Yu ML, Qureshi AP, Carampel AC, Asis JLB, Reyes JCB, Dacasin AB, Anlacan VMM. Climacosa FMM, et al. BMC Med Genomics. 2025 Oct 9;18(1):154. doi: 10.1186/s12920-025-02225-1. BMC Med Genomics. 2025. PMID: 41068898 Free PMC article.

145

Molecular mechanisms underlying the co-pathogenesis of abdominal aortic aneurysm and rheumatoid arthritis: evidence based on bioinformatics analysis and clinical data.

Wang Y, Zhang L, Jiang W, Kuang Q, Qin X. Wang Y, et al. BMC Med Genomics. 2025 Oct 9;18(1):155. doi: 10.1186/s12920-025-02236-y. BMC Med Genomics. 2025. PMID: 41068798 Free PMC article.

146

Alcohol exposure significantly influences gene expression in the hypothalamus, highlighting complex links with gonadotropin-releasing hormone signaling and thyroid hormone production in adolescent mice.

Sun G, Peng Y, Hu C, Zheng Y, Cheng Y, Qi X, Jin Y. Sun G, et al. BMC Med Genomics. 2025 Oct 7;18(1):152. doi: 10.1186/s12920-025-02235-z. BMC Med Genomics. 2025. PMID: 41057899 Free PMC article.

147

Overexpression of CCK Neuropeptide in brain is linked to ZBTB20 mutations: potential diagnostic relevance in glioblastoma.

Dakal TC, Sharma NK, Yadav V, Kumar A, Chen P, Schmidt-Wolf I, Maciaczyk J, Sharma A. Dakal TC, et al. BMC Med Genomics. 2025 Oct 7;18(1):150. doi: 10.1186/s12920-025-02218-0. BMC Med Genomics. 2025. PMID: 41057875 Free PMC article.

148

Association of CYP3A5 rs15524 and CYP3A7 rs776744 polymorphisms on tac IPV and clinical outcomes in early post-heart transplantation.

Chai Y, Hu L, Zhu Y, Quan D, Li Y, Wang X, Yang Y, Wang Z. Chai Y, et al. BMC Med Genomics. 2025 Oct 7;18(1):151. doi: 10.1186/s12920-025-02231-3. BMC Med Genomics. 2025. PMID: 41057866 Free PMC article.

149

CASC15 participated in the damage of vascular endothelial cells in atherosclerosis through interaction with miR-940.

Li T, Yang Z, Zhang K, Song W, Liu B, Xiao S, Guo M, Li M. Li T, et al. BMC Med Genomics. 2025 Oct 7;18(1):153. doi: 10.1186/s12920-025-02211-7. BMC Med Genomics. 2025. PMID: 41057849 Free PMC article.

150

Wiedemann-Steiner syndrome: description of genetic profiles and clinical phenotypes of 10 Korean pediatric patients.

Yoo J, Park AY, Ko JM. Yoo J, et al. BMC Med Genomics. 2025 Oct 6;18(1):149. doi: 10.1186/s12920-025-02226-0. BMC Med Genomics. 2025. PMID: 41053724 Free PMC article.

151

An ADR pharmaceutical care for severe gastrointestinal bleeding of rivaroxaban in a patient with nonvalvular atrial fibrillation based on TDM and genetic testing: a case report.

Huang Y, Gao H, Chen M, Lin Y, Liu H, Chen M. Huang Y, et al. BMC Med Genomics. 2025 Oct 3;18(1):147. doi: 10.1186/s12920-025-02222-4. BMC Med Genomics. 2025. PMID: 41044786 Free PMC article.

152

Bone marrow mesenchymal stem cell-derived exosomes attenuate hepatic stellate cell activation through miR-223-3p-mediated mitophagy.

Ma L, Weng W, Chen J, Wu H, Liang J, Lu F. Ma L, et al. BMC Med Genomics. 2025 Oct 3;18(1):148. doi: 10.1186/s12920-025-02228-y. BMC Med Genomics. 2025. PMID: 41044587 Free PMC article.

153

Mono-allelic MUTYH mutation as the likely inherited etiology of hereditary breast cancer in a patient from a multi-cancer family- report of a family and literature review.

Sarmadi A, Javanmard SH, Zeinalian M, Hosseinzadeh M, Tabatabaiefar MA. Sarmadi A, et al. BMC Med Genomics. 2025 Oct 1;18(1):146. doi: 10.1186/s12920-025-02213-5. BMC Med Genomics. 2025. PMID: 41035082 Free PMC article. Review.

154

Development of a prognostic model based on seven mitochondrial autophagy- and ferroptosis-related genes in lung adenocarcinoma.

Zhao YN, Li HY, Liu D, Feng K, Wang H, Liu TW, Li Y, Wang JY, Hou BF. Zhao YN, et al. BMC Med Genomics. 2025 Oct 1;18(1):145. doi: 10.1186/s12920-025-02216-2. BMC Med Genomics. 2025. PMID: 41035061 Free PMC article.

155

Impact of interaction between IL-21 gene variants and smoking status on susceptibility to rheumatoid arthritis.

Lu X, Xue Y, Yan S. Lu X, et al. BMC Med Genomics. 2025 Sep 30;18(1):144. doi: 10.1186/s12920-025-02217-1. BMC Med Genomics. 2025. PMID: 41029746 Free PMC article.

156

Exploration and validation of the immune-related genes signatures and potential molecular mechanisms shared between Alzheimer's disease (AD) and Parkinson's disease (PD).

Zhou K, Zhang J, Su J, Tong W, Li R, Xiang X, Jin L, Song Y. Zhou K, et al. BMC Med Genomics. 2025 Sep 30;18(1):141. doi: 10.1186/s12920-025-02219-z. BMC Med Genomics. 2025. PMID: 41029738 Free PMC article.

157

Fatty acid metabolism in ischemic stroke: multi-omics biomarker discovery and therapeutic potential of GPR84.

Wu J, Wu D, Qi M, Jiang K. Wu J, et al. BMC Med Genomics. 2025 Sep 30;18(1):142. doi: 10.1186/s12920-025-02212-6. BMC Med Genomics. 2025. PMID: 41029687 Free PMC article.

158

Advanced glycation end-product receptor gene (RAGE) polymorphisms in patients with acute coronary syndrome - a case-control study in the Polish population.

Gutowska K, Ambroziak M, Podraza J, Puzianowska-Kuźnicka M, Czajkowski K, Budaj A, Kuryłowicz A. Gutowska K, et al. BMC Med Genomics. 2025 Sep 30;18(1):143. doi: 10.1186/s12920-025-02215-3. BMC Med Genomics. 2025. PMID: 41029455 Free PMC article.

159

Identification and validation of the cellular senescence-associated molecular pattern and diagnostic markers for osteoporosis.

Liu T, Fan J, Fang J, Qu Z, He Y, Yang K, Yang J, Zhang J, Yang D, Dai L. Liu T, et al. BMC Med Genomics. 2025 Sep 2;18(1):140. doi: 10.1186/s12920-025-02205-5. BMC Med Genomics. 2025. PMID: 40898234 Free PMC article.

160

Inherited retinal diseases in Kentucky: diagnostic yield, gene variants, and novel mutations in a U.S. population.

Demas N, Estrada C, Morales P, Jacobs M, Kitchens J, Pearson A, Maldonado R. Demas N, et al. BMC Med Genomics. 2025 Aug 28;18(1):139. doi: 10.1186/s12920-025-02186-5. BMC Med Genomics. 2025. PMID: 40877827 Free PMC article.

161

Tracking of multidrug-resistant pathogen clones in Ghana: a systematic review and meta-analysis.

Odoom A, Donkor ES. Odoom A, et al. BMC Med Genomics. 2025 Aug 27;18(1):137. doi: 10.1186/s12920-025-02161-0. BMC Med Genomics. 2025. PMID: 40866906 Free PMC article.

162

Identification of an F8 complex recombination in Chinese hemophilia a patient using long-read sequencing and optical genome mapping.

Zhang Y, Yang M, Yan L, Han C, Xue J, Geng J, Chen C, Bao L, Xu B, Wu S, Li H. Zhang Y, et al. BMC Med Genomics. 2025 Aug 27;18(1):138. doi: 10.1186/s12920-025-02202-8. BMC Med Genomics. 2025. PMID: 40866891 Free PMC article.

163

Association of IL-10, IL-6, and TNF-α polymorphisms with acute coronary syndrome risk: a systematic review, meta-analysis, and trial sequential analysis.

Luo Y, Li S, Ding Y, Shi S. Luo Y, et al. BMC Med Genomics. 2025 Aug 23;18(1):136. doi: 10.1186/s12920-025-02167-8. BMC Med Genomics. 2025. PMID: 40846944 Free PMC article.

164

First report of Leishmania RNA virus 2 and its high genetic diversity in cutaneous leishmaniasis cases from Ilam Province, Iran.

Saberi R, Fallahi Lima A, Hajjaran H, Fakhar M. Saberi R, et al. BMC Med Genomics. 2025 Aug 21;18(1):135. doi: 10.1186/s12920-025-02198-1. BMC Med Genomics. 2025. PMID: 40842011 Free PMC article.

165

CUX1 variant and 9p deletion: expanding the spectrum and resolving variable GDD/ID in a family.

Liu H, Liu X, Chen X, Pu Y, Liu W, Luo Z, Chen A, Zhu H, Xiong F, Zeng L, Wang J, Nie X, Zhu S. Liu H, et al. BMC Med Genomics. 2025 Aug 20;18(1):134. doi: 10.1186/s12920-025-02203-7. BMC Med Genomics. 2025. PMID: 40836298 Free PMC article.

166

CCDC82 and neurodevelopment: a novel genetic variant linked to infantile spasms and hypotonia.

Safarian Z, Mehrabi S, Rakhshani Nejad A, Alavimanesh S, Kavousinia P, Shushizadeh MH, Hassani SF, Onagh L, Sarli A, Rezaie N. Safarian Z, et al. BMC Med Genomics. 2025 Aug 20;18(1):133. doi: 10.1186/s12920-025-02201-9. BMC Med Genomics. 2025. PMID: 40836236 Free PMC article.

167

Long read whole genome sequencing-based discovery of structural variants and their role in aetiology of non-syndromic autism spectrum disorder in India.

Shah J, Mondal D, Jain D, Mhatre P, Patel K, Iyer A, Pandya M, Menghani B, Dave G, Sheth J, Sheth F, Ramdas S, Sheth H. Shah J, et al. BMC Med Genomics. 2025 Aug 20;18(1):131. doi: 10.1186/s12920-025-02204-6. BMC Med Genomics. 2025. PMID: 40835948 Free PMC article.

168

The changes of immune function after neuroblastoma chemotherapy and the prediction of potential immune targets.

Ma Y, Su Y, Huang J, Zhao W, Huang C, Qin J, You S, Hu Y, Ni X. Ma Y, et al. BMC Med Genomics. 2025 Aug 20;18(1):132. doi: 10.1186/s12920-025-02185-6. BMC Med Genomics. 2025. PMID: 40835926 Free PMC article.

169

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

Lv Z, Zhao S, Wu H. Lv Z, et al. BMC Med Genomics. 2025 Aug 14;18(1):130. doi: 10.1186/s12920-025-02208-2. BMC Med Genomics. 2025. PMID: 40813671 Free PMC article. No abstract available.

170

The mitochondrial hub gene UCHL1 May serve as a potential biomarker for diagnosing diabetic cardiomyopathy: a comprehensive integration of biological pathways.

Gao C, Tao Y, Qian D, Zhou Y. Gao C, et al. BMC Med Genomics. 2025 Aug 11;18(1):129. doi: 10.1186/s12920-025-02199-0. BMC Med Genomics. 2025. PMID: 40790764 Free PMC article.

171

Arsenic sulfide alleviates the progression of liver cancer malignancy by inhibiting the expression of TLCD1 in mice.

Li X, Xing X, Wang L, Li S. Li X, et al. BMC Med Genomics. 2025 Aug 9;18(1):128. doi: 10.1186/s12920-025-02195-4. BMC Med Genomics. 2025. PMID: 40783540 Free PMC article.

172

Blood cell perturbation responses mediate the causal relationship between the gut microbiota and asthma: a bidirectional Mendelian randomization study.

Bi J, Zhao L, Liu X, Zhang J, Zhang W. Bi J, et al. BMC Med Genomics. 2025 Aug 6;18(1):127. doi: 10.1186/s12920-025-02196-3. BMC Med Genomics. 2025. PMID: 40770703 Free PMC article.

173

Molecular landscape of non-driver genes in myeloproliferative neoplasms through 333 cancer genes panel: Insights to reveal in Pakistan.

Rashid M, Ahmed RZ, Usmani MA, Mukry SN, Zaidi U, Asghar MN. Rashid M, et al. BMC Med Genomics. 2025 Aug 4;18(1):125. doi: 10.1186/s12920-025-02159-8. BMC Med Genomics. 2025. PMID: 40760728 Free PMC article.

174

Correction: Clinical characterizations and molecular genetic study of two co-segregating variants in PDZD7 and PDE6C genes leading simultaneously to non-syndromic hearing loss and achromatopsia.

Nouri Z, Sarmadi A, Narrei S, Kianersi H, Kianersi F, Tabatabaiefar MA. Nouri Z, et al. BMC Med Genomics. 2025 Aug 4;18(1):126. doi: 10.1186/s12920-025-02197-2. BMC Med Genomics. 2025. PMID: 40760435 Free PMC article. No abstract available.

175

A lipid metabolism-related gene signature predicts prognosis after tamoxifen treatment in ER + breast cancer and reflects tumor microenvironment heterogeneity through single-cell analysis.

Ma L, Qian B, Peng C, Liu G, Shen H. Ma L, et al. BMC Med Genomics. 2025 Jul 31;18(1):123. doi: 10.1186/s12920-025-02194-5. BMC Med Genomics. 2025. PMID: 40745642 Free PMC article.

176

Single-cell sequencing-based study of ferroptosis mechanisms in heat stroke: identification of key biomarkers and dynamic analysis of the immune microenvironment.

Yin D, Guo Q, Jiang H, Hu Y, Liu L, Li X, Wang C, Li S, Jin K, Hu Y. Yin D, et al. BMC Med Genomics. 2025 Jul 31;18(1):124. doi: 10.1186/s12920-025-02188-3. BMC Med Genomics. 2025. PMID: 40745616 Free PMC article.

177

Cost-effective promoter methylation analysis via target long-read bisulfite sequencing: a case study in severe preterm birth.

Pereyra S, Sardina A, Neumann R, May C, Sapiro R, Bertoni B, Cappetta M. Pereyra S, et al. BMC Med Genomics. 2025 Jul 29;18(1):122. doi: 10.1186/s12920-025-02193-6. BMC Med Genomics. 2025. PMID: 40731354 Free PMC article.

178

Epigenomic signatures of accelerated epigenetic aging are associated with congenital heart disease in newborns.

Kocher K, Ngwa J, Bhattacharya S, Donofrio M, Limperopoulos C, Andescavage N. Kocher K, et al. BMC Med Genomics. 2025 Jul 28;18(1):121. doi: 10.1186/s12920-025-02189-2. BMC Med Genomics. 2025. PMID: 40722095 Free PMC article.

179

Enrichment of tandem repeat element variants near CHD genes identified by short- and long-read genome sequencing.

Suresh A, Morton SU, Quiat D, DePalma SR, Gorham JM, Brueckner M, Tristani-Firouzi M, Gelb BD, Seidman JG, Seidman CE; Pediatric Cardiac Genomics Consortium. Suresh A, et al. BMC Med Genomics. 2025 Jul 25;18(1):120. doi: 10.1186/s12920-025-02191-8. BMC Med Genomics. 2025. PMID: 40713712 Free PMC article.

180

The prognostic significance and Immunomodulatory role of SCGB3A1 expression in stage I lung adenocarcinoma.

Zhang X, Li S, Lv Y, Liu X, Ao Y, Zhong L, Hu Y. Zhang X, et al. BMC Med Genomics. 2025 Jul 21;18(1):119. doi: 10.1186/s12920-025-02192-7. BMC Med Genomics. 2025. PMID: 40691840 Free PMC article.

181

A recurrent ABCC2 c.2439 + 5G > A variant disturbs mRNA splicing and causes Dubin-Johnson syndrome.

Sun R, Zhu T, Zhou T, Luo Y, Jiang T, Gu C, Wu R, Wang Y, Xu F, Fan S, Wang D, Chen Y. Sun R, et al. BMC Med Genomics. 2025 Jul 18;18(1):118. doi: 10.1186/s12920-025-02187-4. BMC Med Genomics. 2025. PMID: 40682102 Free PMC article.

182

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

Hu J, Xin M, Liu J, Li H, Li X, Chen L, Yang P, Zhao H, Sun P, Gao G, Feng H, Li Z, Xiao G, Li Y, Li K, Xu X. Hu J, et al. BMC Med Genomics. 2025 Jul 15;18(1):117. doi: 10.1186/s12920-025-02184-7. BMC Med Genomics. 2025. PMID: 40665309 Free PMC article.

183

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

Bi J, Guo W, Ji P, Xie Y. Bi J, et al. BMC Med Genomics. 2025 Jul 14;18(1):116. doi: 10.1186/s12920-025-02178-5. BMC Med Genomics. 2025. PMID: 40660297 Free PMC article. Review.

184

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

Pei Y, Lin K. Pei Y, et al. BMC Med Genomics. 2025 Jul 10;18(1):115. doi: 10.1186/s12920-025-02182-9. BMC Med Genomics. 2025. PMID: 40640792 Free PMC article.

185

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

Rahman MH, Akther S, Ahmed S, Shahadat MN, Munsi MN, Siddique AB. Rahman MH, et al. BMC Med Genomics. 2025 Jul 6;18(1):114. doi: 10.1186/s12920-025-02181-w. BMC Med Genomics. 2025. PMID: 40619416 Free PMC article.

186

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

Ugbo EN, Kotey FCN, Donkor ES. Ugbo EN, et al. BMC Med Genomics. 2025 Jul 6;18(1):113. doi: 10.1186/s12920-025-02163-y. BMC Med Genomics. 2025. PMID: 40619397 Free PMC article.

187

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

Taghavinia F, Taghehchian N, Salahshourifar I, Abbaszadegan MR. Taghavinia F, et al. BMC Med Genomics. 2025 Jul 1;18(1):109. doi: 10.1186/s12920-025-02156-x. BMC Med Genomics. 2025. PMID: 40598472 Free PMC article.

188

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

Li C, Yuan XB, Lu YC, Song ZY. Li C, et al. BMC Med Genomics. 2025 Jul 1;18(1):111. doi: 10.1186/s12920-025-02177-6. BMC Med Genomics. 2025. PMID: 40598458 Free PMC article.

189

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

Guo C, Wang P, Huang D, Guo J, Liu T. Guo C, et al. BMC Med Genomics. 2025 Jul 1;18(1):107. doi: 10.1186/s12920-025-02173-w. BMC Med Genomics. 2025. PMID: 40598454 Free PMC article.

190

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

Zhang W, Zhu J, Bian J, Zhou C, Zhang S, He S, Lu H, Wang Y, He J. Zhang W, et al. BMC Med Genomics. 2025 Jul 1;18(1):105. doi: 10.1186/s12920-025-02179-4. BMC Med Genomics. 2025. PMID: 40598293 Free PMC article.

191

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

Dweikat IM, Abdul-Hafez HA, Zayed A, Kanaan M, Kasem H, Bzour R. Dweikat IM, et al. BMC Med Genomics. 2025 Jul 1;18(1):106. doi: 10.1186/s12920-025-02175-8. BMC Med Genomics. 2025. PMID: 40598206 Free PMC article.

192

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

Yu S, Long F, Yan H, Xu Y, Li J, Hao Z. Yu S, et al. BMC Med Genomics. 2025 Jul 1;18(1):110. doi: 10.1186/s12920-025-02176-7. BMC Med Genomics. 2025. PMID: 40598168 Free PMC article.

193

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

Zheng B, Qiao J, Yu X, Zhou H, Wang A, Zhang X. Zheng B, et al. BMC Med Genomics. 2025 Jul 1;18(1):108. doi: 10.1186/s12920-025-02174-9. BMC Med Genomics. 2025. PMID: 40598145 Free PMC article.

194

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

Temel U, Derdiyok O. Temel U, et al. BMC Med Genomics. 2025 Jul 1;18(1):112. doi: 10.1186/s12920-025-02180-x. BMC Med Genomics. 2025. PMID: 40597364 Free PMC article.

195

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

Zhong X, Zheng X, Xv Y, Cai K, Wang Q, Liu S. Zhong X, et al. BMC Med Genomics. 2025 Jun 6;18(1):104. doi: 10.1186/s12920-025-02157-w. BMC Med Genomics. 2025. PMID: 40481473 Free PMC article.

196

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

Ding Q, Zhu H, Fan B, Wang L, Jin X, Cao C, Shi Y, Fan Z, Tu W, Li F. Ding Q, et al. BMC Med Genomics. 2025 Jun 5;18(1):103. doi: 10.1186/s12920-025-02172-x. BMC Med Genomics. 2025. PMID: 40474232 Free PMC article.

197

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

Zhong Y, Lin M, Zhou X, He C, Lin Q, Li Q, Ding Y. Zhong Y, et al. BMC Med Genomics. 2025 Jun 3;18(1):102. doi: 10.1186/s12920-025-02170-z. BMC Med Genomics. 2025. PMID: 40462020 Free PMC article.

198

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

Xu ZM, Zwyer M, Hiza H, Schmidiger S, Sasamalo M, Reinhard M, Doetsch A, Borrell S, Naret O, Rüeger S, Lawless D, Tang S, Isihaka F, Temba H, Maroa T, Naftari R, Beisel C, Hella J, Reither K, Brites D, Portevin D, Gagneux S, Fellay J. Xu ZM, et al. BMC Med Genomics. 2025 Jun 2;18(1):99. doi: 10.1186/s12920-025-02164-x. BMC Med Genomics. 2025. PMID: 40457403 Free PMC article.

199

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.

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MDA5 variants trade antiviral activity for protection from autoimmune disease.

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