Works matching IS 14739542 AND DT 2022 AND VI 16 AND IP 1
Results: 77
Digital PCR-based evaluation of nucleic acid extraction kit performance for the co-purification of cell-free DNA and RNA.
- Published in:
- Human Genomics, 2022, v. 16, n. 1, p. 1, doi. 10.1186/s40246-022-00446-4
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- Publication type:
- Article
Circulating miR-320a-3p and miR-483-5p level associated with pharmacokinetic–pharmacodynamic profiles of rivaroxaban.
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- Human Genomics, 2022, v. 16, n. 1, p. 1, doi. 10.1186/s40246-022-00445-5
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- Article
Pan-cancer illumination of TRIM gene family reveals immunology regulation and potential therapeutic implications.
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- Human Genomics, 2022, v. 16, n. 1, p. 1, doi. 10.1186/s40246-022-00441-9
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- Article
Preimplantation genetic testing for aneuploidy: challenges in clinical practice.
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- Human Genomics, 2022, v. 16, n. 1, p. 1, doi. 10.1186/s40246-022-00442-8
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- Article
Identification of a minimum number of genes to predict triple-negative breast cancer subgroups from gene expression profiles.
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- Human Genomics, 2022, v. 16, n. 1, p. 1, doi. 10.1186/s40246-022-00436-6
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- Article
Lack of association of TP73 rare variants with amyotrophic lateral sclerosis in a Chinese cohort.
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- 2022
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- Publication type:
- Letter
The integration of large-scale public data and network analysis uncovers molecular characteristics of psoriasis.
- Published in:
- Human Genomics, 2022, v. 16, n. 1, p. 1, doi. 10.1186/s40246-022-00431-x
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- Article
Whole‐exome sequencing of a Saudi epilepsy cohort reveals association signals in known and potentially novel loci.
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- Human Genomics, 2022, v. 16, n. 1, p. 1, doi. 10.1186/s40246-022-00444-6
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- Article
The bridge-like lipid transfer protein (BLTP) gene group: introducing new nomenclature based on structural homology indicating shared function.
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- Human Genomics, 2022, v. 16, n. 1, p. 1, doi. 10.1186/s40246-022-00439-3
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- Article
Phenotypic findings and pregnancy outcomes of fetal rare autosomal aneuploidies detected using chromosomal microarray analysis.
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- Human Genomics, 2022, v. 16, n. 1, p. 1, doi. 10.1186/s40246-022-00438-4
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- Article
Correction: Whole-exome sequencing of BRCA-negative breast cancer patients and case–control analyses identify variants associated with breast cancer susceptibility.
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- 2022
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- Correction Notice
Comprehensive characterization of putative genetic influences on plasma metabolome in a pediatric cohort.
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- Human Genomics, 2022, v. 16, n. 1, p. 1, doi. 10.1186/s40246-022-00440-w
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- Publication type:
- Article
Whole-exome sequencing of BRCA-negative breast cancer patients and case–control analyses identify variants associated with breast cancer susceptibility.
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- Human Genomics, 2022, v. 16, n. 1, p. 1, doi. 10.1186/s40246-022-00435-7
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- Publication type:
- Article
Increased risk of COVID-19 mortality rate in IFITM3 rs6598045 G allele carriers infected by SARS-CoV-2 delta variant.
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- Human Genomics, 2022, v. 16, n. 1, p. 1, doi. 10.1186/s40246-022-00434-8
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- Article
Differential upregulation of AU-rich element-containing mRNAs in COVID-19.
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- Human Genomics, 2022, v. 16, n. 1, p. 1, doi. 10.1186/s40246-022-00433-9
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- Article
The importance of being the HGNC.
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- Human Genomics, 2022, v. 16, n. 1, p. 1, doi. 10.1186/s40246-022-00432-w
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- Article
Mutation in XPO5 causes adult-onset autosomal dominant familial focal segmental glomerulosclerosis.
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- Human Genomics, 2022, v. 16, n. 1, p. 1, doi. 10.1186/s40246-022-00430-y
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- Article
De novo mutations within metabolism networks of amino acid/protein/energy in Chinese autistic children with intellectual disability.
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- Human Genomics, 2022, v. 16, n. 1, p. 1, doi. 10.1186/s40246-022-00427-7
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- Article
Placing human gene families into their evolutionary context.
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- Human Genomics, 2022, v. 16, n. 1, p. 1, doi. 10.1186/s40246-022-00429-5
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- Article
De novo and inherited variants in coding and regulatory regions in genetic cardiomyopathies.
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- Human Genomics, 2022, v. 16, n. 1, p. 1, doi. 10.1186/s40246-022-00420-0
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- Article
A review on the application of the exposome paradigm to unveil the environmental determinants of age-related diseases.
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- Human Genomics, 2022, v. 16, n. 1, p. 1, doi. 10.1186/s40246-022-00428-6
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- Article
Integrated proteomic and metabolomic modules identified as biomarkers of mortality in the Atherosclerosis Risk in Communities study and the African American Study of Kidney Disease and Hypertension.
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- Human Genomics, 2022, v. 16, n. 1, p. 1, doi. 10.1186/s40246-022-00425-9
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- Article
Placing human gene families into their evolutionary context.
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- Human Genomics, 2022, v. 16, n. 1, p. 1, doi. 10.1186/s40246-022-00429-5
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- Publication type:
- Article
rs2013278 in the multiple immunological-trait susceptibility locus CD28 regulates the production of non-functional splicing isoforms.
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- Human Genomics, 2022, v. 16, n. 1, p. 1, doi. 10.1186/s40246-022-00419-7
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- Publication type:
- Article
DUSP5 and PHLDA1 mutations in mature cystic teratomas of the ovary identified on whole-exome sequencing may explain teratoma characteristics.
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- Human Genomics, 2022, v. 16, n. 1, p. 1, doi. 10.1186/s40246-022-00424-w
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- Article
CRISPR-Cas9-mediated functional dissection of the foxc1 genomic region in zebrafish identifies critical conserved cis-regulatory elements.
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- Human Genomics, 2022, v. 16, n. 1, p. 1, doi. 10.1186/s40246-022-00423-x
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- Article
Biallelic mutations of TTC12 and TTC21B were identified in Chinese patients with multisystem ciliopathy syndromes.
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- Human Genomics, 2022, v. 16, n. 1, p. 1, doi. 10.1186/s40246-022-00421-z
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- Publication type:
- Article
Nidogen-1 could play a role in diabetic kidney disease development in type 2 diabetes: a genome-wide association meta-analysis.
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- Human Genomics, 2022, v. 16, n. 1, p. 1, doi. 10.1186/s40246-022-00422-y
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- Article
Copy number variant analysis for syndromic congenital heart disease in the Chinese population.
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- Human Genomics, 2022, v. 16, n. 1, p. 1, doi. 10.1186/s40246-022-00426-8
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- Article
Frequencies of CYP2D6 genetic polymorphisms in Arab populations.
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- Human Genomics, 2022, v. 16, n. 1, p. 1, doi. 10.1186/s40246-022-00378-z
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- Article
Analysis on in vitro effect of lithium on telomere length in lymphoblastoid cell lines from bipolar disorder patients with different clinical response to long-term lithium treatment.
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- Human Genomics, 2022, v. 16, n. 1, p. 1, doi. 10.1186/s40246-022-00418-8
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- Article
J'Accuse..... Or The Plight of pro-bono Volunteer Scientists in Academic Publishing.
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- 2022
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- Publication type:
- Letter
Circular RNA hsa_circ_0000915 promotes propranolol resistance of hemangioma stem cells in infantile haemangiomas.
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- Human Genomics, 2022, v. 16, n. 1, p. 1, doi. 10.1186/s40246-022-00416-w
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- Publication type:
- Article
Pharmacogenomics implementation in cardiovascular disease in a highly diverse population: initial findings and lessons learned from a pilot study in United Arab Emirates.
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- Human Genomics, 2022, v. 16, n. 1, p. 1, doi. 10.1186/s40246-022-00417-9
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- Publication type:
- Article
Immune dysregulation associated with co-occurring germline CBL and SH2B3 variants.
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- Human Genomics, 2022, v. 16, n. 1, p. 1, doi. 10.1186/s40246-022-00414-y
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- Article
De novo disruptive heterozygous MMP21 variants are potential predisposing genetic risk factors in Chinese Han heterotaxy children.
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- Human Genomics, 2022, v. 16, n. 1, p. 1, doi. 10.1186/s40246-022-00409-9
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- Article
Novel clinical, molecular and bioinformatics insights into the genetic background of autism.
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- Human Genomics, 2022, v. 16, n. 1, p. 1, doi. 10.1186/s40246-022-00415-x
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- Publication type:
- Article
Construction of the coexpression network involved in the pathogenesis of thyroid eye disease via bioinformatics analysis.
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- Human Genomics, 2022, v. 16, n. 1, p. 1, doi. 10.1186/s40246-022-00412-0
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- Publication type:
- Article
Validating and automating learning of cardiometabolic polygenic risk scores from direct-to-consumer genetic and phenotypic data: implications for scaling precision health research.
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- Human Genomics, 2022, v. 16, n. 1, p. 1, doi. 10.1186/s40246-022-00406-y
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- Publication type:
- Article
Identification of recurrent variants implicated in disease in bicuspid aortic valve patients through whole-exome sequencing.
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- Human Genomics, 2022, v. 16, n. 1, p. 1, doi. 10.1186/s40246-022-00405-z
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- Article
Characterization of ACE2 naturally occurring missense variants: impact on subcellular localization and trafficking.
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- Human Genomics, 2022, v. 16, n. 1, p. 1, doi. 10.1186/s40246-022-00411-1
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- Article
Maternal obesity alters methylation level of cytosine in CpG island for epigenetic inheritance in fetal umbilical cord blood.
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- Human Genomics, 2022, v. 16, n. 1, p. 1, doi. 10.1186/s40246-022-00410-2
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- Publication type:
- Article
On the relationship between tripartite motif-containing 22 single-nucleotide polymorphisms and COVID-19 infection severity.
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- Human Genomics, 2022, v. 16, n. 1, p. 1, doi. 10.1186/s40246-022-00394-z
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- Publication type:
- Article
SCP2 variant is associated with alterations in lipid metabolism, brainstem neurodegeneration, and testicular defects.
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- Human Genomics, 2022, v. 16, n. 1, p. 1, doi. 10.1186/s40246-022-00408-w
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- Article
SCP2 variant is associated with alterations in lipid metabolism, brainstem neurodegeneration, and testicular defects.
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- Human Genomics, 2022, v. 16, n. 1, p. 1, doi. 10.1186/s40246-022-00408-w
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- Publication type:
- Article
Expanding ACMG variant classification guidelines into a general framework.
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- Human Genomics, 2022, v. 16, n. 1, p. 1, doi. 10.1186/s40246-022-00407-x
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- Publication type:
- Article
1029 genomes of self-declared healthy individuals from India reveal prevalent and clinically relevant cardiac ion channelopathy variants.
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- Human Genomics, 2022, v. 16, n. 1, p. 1, doi. 10.1186/s40246-022-00402-2
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- Article
Identification of the ataxin-1 interaction network and its impact on spinocerebellar ataxia type 1.
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- Human Genomics, 2022, v. 16, n. 1, p. 1, doi. 10.1186/s40246-022-00404-0
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- Publication type:
- Article
Epigenetics may characterize asymptomatic COVID-19 infection.
- Published in:
- 2022
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- Publication type:
- Letter
Noninvasive fetal genotyping of single nucleotide variants and linkage analysis for prenatal diagnosis of monogenic disorders.
- Published in:
- Human Genomics, 2022, v. 16, n. 1, p. 1, doi. 10.1186/s40246-022-00400-4
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- Publication type:
- Article