Research Papers

25 of 1343 papers

CSV Excel
Quick filters: Open Data Open Code Pre-registered Funding Declared COI Declared Open Access Clear Filters
Novel autosomal dominant TMC1 variants linked to hearing loss: insight into protein-lipid interactions.
Cho SH; Yun Y; Lee DH; Cha JH; Lee SM; Lee J; Suh MH; Lee JH; Oh SH; Park MK; Lee SY.
BMC Med Genomics (Unknown)
Published: 2023
4/6 Transparent
Data Funding Declared
Clinical features and genetic analysis of a case series of skeletal ciliopathies in a prenatal setting.
Peng Y; Zhou L; Chen J; Huang X; Pang J; Liu J; Tang W; Yang S; Liang C; Xie W.
BMC Med Genomics (Unknown)
Published: 2023
4/6 Transparent
Data Funding Declared
Key m<sup>6</sup>A regulators mediated methylation modification pattern and immune infiltration characterization in hep…
Zhang Y; Qi C; Guo Y; Li X; Zhu Z.
BMC Med Genomics (Unknown)
Published: 2023
4/6 Transparent
Data Funding Declared
Identifying potential pathogenesis and immune infiltration in diabetic foot ulcers using bioinformatics and in vitro an…
Xu Y; Xu J; Chen S; Zhou A; Huang G; Huang S; Yu D; Wu B.
BMC Med Genomics (Unknown)
Published: 2023
5/6 Transparent
Data Registered Funding Declared
Evaluation of causal associations between interleukin-18 levels and immune-mediated inflammatory diseases: a Mendelian …
Wu J; Zhang X; Wu D; Jin O; Gu J.
BMC Med Genomics (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Screening of key genes in the pathogenesis of muscle atrophy in CKD-PEW children based on RNA sequencing.
Ying L; Yeping J; Hui W; Nan Z; FuQian; Ying S.
BMC Med Genomics (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Retinal nerve fibre layer thinning and corneal nerve loss in patients with Bardet-Biedl syndrome.
Belkadi A; Thareja G; Khan A; Stephan N; Zaghlool S; Halama A; Ahmed AA; Mohamoud YA; Malek J; Suhre K; Malik RA.
BMC Med Genomics (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Integrated single-cell and bulk RNA sequencing analysis identifies a neoadjuvant chemotherapy-related gene signature fo…
Zhang X; Feng R; Guo J; Pan L; Yao Y; Gao J.
BMC Med Genomics (Unknown)
Published: 2023
4/6 Transparent
Data Funding Declared
Association of MMP3, MMP14, and MMP25 gene polymorphisms with cerebral stroke risk: a case-control study.
Yin Y; Zhang Y; Zhang X; Zhang Q; Wang J; Yang T; Liang C; Li W; Liu J; Ma X; Duan J; Shi W; Tian Y.
BMC Med Genomics (Unknown)
Published: 2023
4/6 Transparent
Data Funding Declared
The diagnostic/prognostic roles and biological function of the IFIT family members in acute myeloid leukemia.
Zhao Y; Zhang Y; Lu W; Sun R; Guo R; Cao X; Liu X; Lyu C; Zhao M.
BMC Med Genomics (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Accuracy and depth evaluation of clinical low pass genome sequencing in the detection of mosaic aneuploidies and CNVs.
Liu Y; Hao S; Guo X; Fan L; Qiao Z; Wang Y; Wang X; Man J; Wang L; Wei X; Peng H; Peng Z; Sun Y; Song L.
BMC Med Genomics (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Occurrence of mosaic trisomy 22 and pericentric inversion of chromosome 9 in a patient with a good prognosis.
Nardelli A; Laskoski LV; Luiz AF; Silveira MAD; d'Arce LPG.
BMC Med Genomics (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
OGM and WES identifies translocation breakpoints in PKD1 gene in an polycystic kidney patient and healthy baby delivere…
Xu P; Wang L; Li J; Huang S; Gao M; Kang R; Li J; Xie H; Liu X; Yan J; Gao X; Gao Y.
BMC Med Genomics (Unknown)
Published: 2023
4/6 Transparent
Data Funding Declared
A phenome-wide approach to identify causal risk factors for deep vein thrombosis.
Constantinescu AE; Bull CJ; Goudswaard LJ; Zheng J; Elsworth B; Timpson NJ; Moore SF; Hers I; Vincent EE.
BMC Med Genomics (Unknown)
Published: 2023
4/6 Transparent
Code Funding Declared
Deletion in 1p36.33-p36.32 is associated with pancytopenia: a case report.
Yang H; Huang J; Zheng H; Zhang Y; Zhang Y; Liu W; Wu J; Chen X; Lin J; Ni Y; Nie X.
BMC Med Genomics (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Polygenic risk for triglyceride levels in the presence of a high impact rare variant.
Ying S; Heung T; Thiruvahindrapuram B; Engchuan W; Yin Y; Blagojevic C; Zhang Z; Hegele RA; Yuen RKC; Bassett AS.
BMC Med Genomics (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Construction of miRNA-mRNA regulatory network indicates potential biomarkers for primary open-angle glaucoma.
Zhou X; Zhang F; Zhang X; Zhou D; Zhao Y; Chen B; Duan X.
BMC Med Genomics (Unknown)
Published: 2023
4/6 Transparent
Data Funding Declared
A novel proteomic-based model for predicting colorectal cancer with Schistosoma japonicum co-infection by integrated bi…
Li S; Sun X; Li T; Shi Y; Xu B; Deng Y; Wang S.
BMC Med Genomics (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Phenotypic variability in two female siblings with oocyte maturation arrest due to a TUBB8 variant.
Dou Q; Xu H; Ma L; Tan L; Tang W.
BMC Med Genomics (Unknown)
Published: 2023
4/6 Transparent
Data Funding Declared
Genome-wide neonatal epigenetic changes associated with maternal exposure to the COVID-19 pandemic.
Kocher K; Bhattacharya S; Niforatos-Andescavage N; Almalvez M; Henderson D; Vilain E; Limperopoulos C; Délot EC.
BMC Med Genomics (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Arrhythmogenic left ventricular cardiomyopathy caused by a novel likely pathogenic DSP mutation, p.K1165Rfs*8, in a fam…
Azimi A; Pourirahim M; Houshmand G; Adimi S; Maleki M; Kalayinia S.
BMC Med Genomics (Unknown)
Published: 2023
4/6 Transparent
Data Funding Declared
Construction and validation of a metabolism-associated gene signature for predicting the prognosis, immune landscape, a…
Shen C; Bi Y; Chai W; Zhang Z; Yang S; Liu Y; Wu Z; Peng F; Fan Z; Hu H.
BMC Med Genomics (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Identification of the role of endoplasmic reticulum stress genes in endometrial cancer and their association with tumor…
Zhang TA; Zhang Q; Zhang J; Zhao R; Shi R; Wei S; Liu S; Zhang Q; Wang H.
BMC Med Genomics (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Global-scale GWAS associates a subset of SNPs with animal-adapted variants in M. tuberculosis complex.
Brenner EP; Sreevatsan S.
BMC Med Genomics (Unknown)
Published: 2023
4/6 Transparent
Data Funding Declared
Association between fibrosis-related gene polymorphism and long-term allograft outcome in renal transplant recipients.
Yin Y; Zhang H; Sun L; Han Q; Zheng M; Chen H; Fei S; Tan R; Ju X; Wang Z; Gu M.
BMC Med Genomics (Unknown)
Published: 2023
4/6 Transparent
Data Funding Declared