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Brain single cell transcriptomic profiles in episodic memory phenotypes associated with temporal lobe epilepsy.
- Published in:
- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00339-4
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- Publication type:
- Article
Genomic heterogeneity in pancreatic cancer organoids and its stability with culture.
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- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00342-9
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- Article
SMAD6-deficiency in human genetic disorders.
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- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00338-5
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- Article
Medicine and health of 21st Century: Not just a high biotech-driven solution.
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- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00336-7
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- Article
Publisher Correction: Processed pseudogene insertion in GLB1 causes Morquio B disease by altering intronic splicing regulatory landscape.
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- 2022
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- Publication type:
- Correction Notice
Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-concept.
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- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00347-4
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- Article
Germline genetic variation and predicting immune checkpoint inhibitor induced toxicity.
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- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00345-6
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- Publication type:
- Article
A robust pipeline for ranking carrier frequencies of autosomal recessive and X-linked Mendelian disorders.
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- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00344-7
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- Publication type:
- Article
Using coding and non-coding rare variants to target candidate genes in patients with severe tinnitus.
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- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00341-w
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- Publication type:
- Article
Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA.
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- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00334-9
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- Article
Direct cell-to-cell transfer in stressed tumor microenvironment aggravates tumorigenic or metastatic potential in pancreatic cancer.
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- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00333-w
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- Article
A missense variant in the nuclear localization signal of DKC1 causes Hoyeraal-Hreidarsson syndrome.
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- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00335-8
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- Article
Complement component C4 structural variation and quantitative traits contribute to sex-biased vulnerability in systemic sclerosis.
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- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00327-8
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- Article
Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing.
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- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00331-y
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- Publication type:
- Article
Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype.
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- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00330-z
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- Publication type:
- Article
Alternative ANKHD1 transcript promotes proliferation and inhibits migration in uterine corpus endometrial carcinoma.
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- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00321-0
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- Article
Co-design, implementation, and evaluation of plain language genomic test reports.
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- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00332-x
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- Publication type:
- Article
Identification of phenocopies improves prediction of targeted therapy response over DNA mutations alone.
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- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00328-7
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- Publication type:
- Article
Machine learning-based detection of immune-mediated diseases from genome-wide cell-free DNA sequencing datasets.
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- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00325-w
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- Publication type:
- Article
Never-homozygous genetic variants in healthy populations are potential recessive disease candidates.
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- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00322-z
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- Publication type:
- Article
Clinical variant interpretation and biologically relevant reference transcripts.
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- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00329-6
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- Publication type:
- Article
A translational genomics approach identifies IL10RB as the top candidate gene target for COVID-19 susceptibility.
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- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00324-x
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- Article
Integrating rapid exome sequencing into NICU clinical care after a pilot research study.
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- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00326-9
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- Publication type:
- Article
Huntington's disease age at motor onset is modified by the tandem hexamer repeat in TCERG1.
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- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00317-w
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- Publication type:
- Article
Mutational and splicing landscape in a cohort of 43,000 patients tested for hereditary cancer.
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- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00323-y
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- Publication type:
- Article
Methylation risk scores are associated with a collection of phenotypes within electronic health record systems.
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- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00320-1
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- Article
Synaptosome microRNAs regulate synapse functions in Alzheimer's disease.
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- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00319-8
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- Publication type:
- Article
Ano5 modulates calcium signaling during bone homeostasis in gnathodiaphyseal dysplasia.
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- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00312-1
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- Article
Transcriptomic effects of propranolol and primidone converge on molecular pathways relevant to essential tremor.
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- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00318-9
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- Article
Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders.
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- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00316-x
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- Article
Integrative transcriptomic, evolutionary, and causal inference framework for region-level analysis: Application to COVID-19.
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- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00296-y
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- Publication type:
- Article
Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders.
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- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00294-0
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- Publication type:
- Article
Processed pseudogene insertion in GLB1 causes Morquio B disease by altering intronic splicing regulatory landscape.
- Published in:
- 2022
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- Publication type:
- Case Study
A dominant negative ADIPOQ mutation in a diabetic family with renal disease, hypoadiponectinemia, and hyperceramidemia.
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- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00314-z
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- Publication type:
- Article
Multifocal organoids reveal clonal associations between synchronous intestinal tumors with pervasive heterogeneous drug responses.
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- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00313-0
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- Article
Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome.
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- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00311-2
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- Article
Methylome-wide analysis of IVF neonates that underwent embryo culture in different media revealed no significant differences.
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- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00310-3
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- Publication type:
- Article
PKD2 founder mutation is the most common mutation of polycystic kidney disease in Taiwan.
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- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00309-w
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- Publication type:
- Article
Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts.
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- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00308-x
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- Publication type:
- Article
Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant.
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- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00306-z
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- Publication type:
- Article
Novel homozygous nonsense mutation of MLIP and compensatory alternative splicing.
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- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00307-y
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- Publication type:
- Article
A statistical perspective on baseline adjustment in pharmacogenomic genome-wide association studies of quantitative change.
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- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00303-2
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- Publication type:
- Article
An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance.
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- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00302-3
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- Publication type:
- Article
Comprehensive characterization of posttranscriptional impairment-related 3′-UTR mutations in 2413 whole genomes of cancer patients.
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- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00305-0
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- Publication type:
- Article
Genomic architecture of fetal central nervous system anomalies using whole-genome sequencing.
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- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00301-4
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- Publication type:
- Article
Pan-cancer analyses reveal the genetic and pharmacogenomic landscape of transient receptor potential channels.
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- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00304-1
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- Publication type:
- Article
VHL mosaicism: the added value of multi-tissue analysis.
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- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00291-3
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- Publication type:
- Article
Nucleosome footprinting in plasma cell-free DNA for the pre-surgical diagnosis of ovarian cancer.
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- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00300-5
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- Publication type:
- Article
Precision drugging of the MAPK pathway in head and neck cancer.
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- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00293-1
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- Publication type:
- Article
Distinct metabolic profiles associated with autism spectrum disorder versus cancer in individuals with germline PTEN mutations.
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- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00289-x
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- Publication type:
- Article