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npj Genomic Medicine
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Last updated 12 months ago
Rapid generation of a sdhb loss-of-function zebrafish model for secreting pheochromocytomas and paragangliomas
12 months ago
npj Genomic Medicine, Published online: 11 August 2025; doi:10.1038/s41525-025-00518-zRapid generation of a...
A founder BRCA1 exonic duplication involving breakpoint in T2T reference genome-specific region results in constitutional fusion transcript
12 months ago
npj Genomic Medicine, Published online: 31 July 2025; doi:10.1038/s41525-025-00517-0A founder BRCA1 exonic...
Genomics on FHIR – a feasibility study to support a National Strategy for Genomic Medicine
12 months ago
npj Genomic Medicine, Published online: 29 July 2025; doi:10.1038/s41525-025-00516-1Genomics on FHIR –...
Sequencing validates deep learning models for EHR-based detection of Noonan syndrome in pediatric patients
about 1 year ago
npj Genomic Medicine, Published online: 21 July 2025; doi:10.1038/s41525-025-00512-5Sequencing validates deep learning...
Serum microRNA expression quantitative trait loci in children with asthma colocalize with asthma-related GWAS results
about 1 year ago
npj Genomic Medicine, Published online: 17 July 2025; doi:10.1038/s41525-025-00510-7Serum microRNA expression quantitative...
A narrative review of research advancements in pharmacogenetics of cardiovascular disease and impact on clinical implications
about 1 year ago
npj Genomic Medicine, Published online: 10 July 2025; doi:10.1038/s41525-025-00511-6A narrative review of...
Clinical TP53 genetic testing is recommended for HER2-positive breast cancer patients aged 35 or younger
about 1 year ago
npj Genomic Medicine, Published online: 02 July 2025; doi:10.1038/s41525-025-00496-2Clinical TP53 genetic testing...
New genetic diagnoses for inherited retinal dystrophies by integrating splicing tools into NGS pipelines
about 1 year ago
npj Genomic Medicine, Published online: 02 July 2025; doi:10.1038/s41525-025-00500-9New genetic diagnoses for...
Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing
about 1 year ago
npj Genomic Medicine, Published online: 01 July 2025; doi:10.1038/s41525-025-00505-4Assessing the diagnostic impact...
Geno4ME Study: implementation of whole genome sequencing for population screening in a large healthcare system
about 1 year ago
npj Genomic Medicine, Published online: 01 July 2025; doi:10.1038/s41525-025-00508-1Geno4ME Study: implementation of...
Saliva as a potential diagnostic medium: DNA methylation biomarkers for disorders beyond the oral cavity
about 1 year ago
npj Genomic Medicine, Published online: 20 June 2025; doi:10.1038/s41525-025-00509-0Saliva as a potential...
Integrating explainable machine learning and transcriptomics data reveals cell-type specific immune signatures underlying macular degeneration
about 1 year ago
npj Genomic Medicine, Published online: 14 June 2025; doi:10.1038/s41525-025-00507-2Integrating explainable machine learning...