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SLC16A8 is a causal contributor to age-related macular degeneration risk.
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- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00442-8
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Clinical genome sequencing in patients with suspected rare genetic disease in Peru.
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- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00434-8
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Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
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- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00436-6
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Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathy.
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- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00429-5
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A genotype imputation reference panel specific for native Southeast Asian populations.
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- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00435-7
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Systematic decision frameworks for the socially responsible use of precision medicine.
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- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00433-9
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Native Hawaiian and Pacific Islander populations in genomic research.
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- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00428-6
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Gene-environmental influence of space and microgravity on red blood cells with sickle cell disease.
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- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00427-7
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Polygenic scores stratify neurodevelopmental copy number variant carrier cognitive outcomes in the UK Biobank.
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- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00426-8
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An efficient molecular genetic testing strategy for incontinentia pigmenti based on single-tube long fragment read sequencing.
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- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00421-z
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- Article
CDK4 is co-amplified with either TP53 promoter gene fusions or MDM2 through distinct mechanisms in osteosarcoma.
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- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00430-y
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- Article
Prenatal diagnosis for neurofibromatosis type 1 and the pitfalls of germline mosaics.
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- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00425-9
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Molecular subtypes explain lupus epigenomic heterogeneity unveiling new regulatory genetic risk variants.
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- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00420-0
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- Article
Structure and transcription of integrated HPV DNA in vulvar carcinomas.
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- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00418-8
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Differential detection of megakaryocytic and erythroid DNA in plasma in hematological disorders.
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- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00423-x
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Pharmacogenomics of coronary artery response to intravenous gamma globulin in kawasaki disease.
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- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00419-7
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- Article
MiRNA expression as outcome predictor in pediatric AML: systematic evaluation of a new model.
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- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00424-w
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Equity in action: The Diagnostic Working Group of The Undiagnosed Diseases Network International.
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- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00422-y
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- Article
Rare variants at KCNJ2 are associated with LDL-cholesterol levels in a cross-population study.
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- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00417-9
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Analysis of cell free DNA to predict outcome to bevacizumab therapy in colorectal cancer patients.
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- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00415-x
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Structure-based network analysis predicts pathogenic variants in human proteins associated with inherited retinal disease.
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- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00416-w
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Evaluating the utility of multi-gene, multi-disease population-based panel testing accounting for uncertainty in penetrance estimates.
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- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00414-y
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Reply to: Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects.
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- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00409-9
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Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects.
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- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00406-y
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Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions.
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- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00408-w
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Genome-wide association analyses of ovarian cancer patients undergoing primary debulking surgery identify candidate genes for residual disease.
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- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00395-y
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Genomic and clinical characterization of a familial GIST kindred intolerant to imatinib.
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- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00405-z
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Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action.
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- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00410-2
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- Article
Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome.
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- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00413-z
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Strategies to improve implementation of cascade testing in hereditary cancer syndromes: a systematic review.
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- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00412-0
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- Article
Rapid genomic sequencing for genetic disease diagnosis and therapy in intensive care units: a review.
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- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00404-0
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- Article
Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders.
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- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00396-x
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- Article
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.
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- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00398-9
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Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
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- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00393-0
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Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates.
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- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00411-1
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Genomes in clinical care.
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- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00402-2
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DNA and RNA base editors can correct the majority of pathogenic single nucleotide variants.
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- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00397-w
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A call for increased inclusivity and global representation in pharmacogenetic testing.
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- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00403-1
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- Article
Single cell-transcriptomic analysis informs the lncRNA landscape in metastatic castration resistant prostate cancer.
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- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00401-3
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- Article
Assessing the efficacy of target adaptive sampling long-read sequencing through hereditary cancer patient genomes.
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- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00394-z
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- Article
Germline mutations of 4567 patients with hereditary breast-ovarian cancer spectrum in Thailand.
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- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00400-4
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- Article
Germline mutations of 4567 patients with hereditary breast-ovarian cancer spectrum in Thailand.
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- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00400-4
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- Publication type:
- Article
Rapid genomic sequencing for genetic disease diagnosis and therapy in intensive care units: a review.
- Published in:
- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00404-0
- By:
- Publication type:
- Article
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
- Published in:
- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00393-0
- By:
- Publication type:
- Article
A cost-effective sequencing method for genetic studies combining high-depth whole exome and low-depth whole genome.
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- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00390-3
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Eliciting parental preferences and values for the return of additional findings from genomic sequencing.
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- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00399-8
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- Article
Divergent immune microenvironments in two tumor nodules from a patient with mismatch repair-deficient prostate cancer.
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- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00392-1
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- Article
Whole genome sequencing enables new genetic diagnosis for inherited retinal diseases by identifying pathogenic variants.
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- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00391-2
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- Article
Highly efficient capture approach for the identification of diverse inherited retinal disorders.
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- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-023-00388-3
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- Article
Kagami Ogata syndrome: a small deletion refines critical region for imprinting.
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- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-023-00389-2
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