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1,890
datasets available to search
ShareScore release 0.9.0
Dataset results
1,890 results for “Defects”
Defects in the alternative splicing-dependent regulation of REST cause deafness - [mouse utricles].
GEO Series GSE111604. Mus musculus. 8 samples. Type: Expression profiling by high throughput sequencing.
Induced pluripotent stem cell models of progranulin-deficient frontotemporal dementia uncover specific reversible neuronal defects.
GEO Series GSE40378. Homo sapiens. 32 samples. Type: Expression profiling by array.
Neurodevelopmental Defects and Neurodegenerative Phenotypes in Human Brain Organoids Carrying Parkinson Disease-Linked DNAJC6 Mutations
GEO Series GSE151190. Homo sapiens. 8 samples. Type: Expression profiling by high throughput sequencing.
Electrophysiological defects in a novel patient-derived stem cell model of desmoglein-2 mutant ARVC
GEO Series GSE176209. Homo sapiens. 10 samples. Type: Expression profiling by high throughput sequencing.
Non-coding cause of congenital heart defects: Abnormal RNA splicing with multiple isoforms as a mechanism for heterotaxy
GEO Series GSE263414. Homo sapiens. 17 samples. Type: Expression profiling by high throughput sequencing.
Single Novel single cell assay reveals progressive lymphoid defect in aging multipotent hematopoietic progenitors cell RNA-seq reveals LMPP clonal dynamics in aging.
GEO Series GSE77740. Mus musculus. 167 samples. Type: Expression profiling by high throughput sequencing.
RNA-seq: Loss of a heterochromatin anchor rescues altered genome organization and EDMD muscle defects triggered by a laminopathy mutation
GEO Series GSE136576. Caenorhabditis elegans. 8 samples. Type: Expression profiling by high throughput sequencing.
A multimorphic variant in ThPOK causes an inborn error of immunity with T cell defects and fibrosis [fibroblasts]
GEO Series GSE291517. Homo sapiens. 18 samples. Type: Expression profiling by high throughput sequencing.
DNMT3A haploinsufficiency causes dichotomous DNA methylation defects at enhancers in mature human immune cells [csRNA-seq]
GEO Series GSE168811. Homo sapiens. 9 samples. Type: Other.
Defective neutrophil-derived exosomes induce macrophage activation through miR-122-5p in Behçet’s Disease
GEO Series GSE252885. Homo sapiens. 12 samples. Type: Expression profiling by high throughput sequencing.
Patient derived model of UBA5-associated encephalopathy identifies defects in neurodevelopment and highlights potential therapies [scRNA-seq]
GEO Series GSE252497. Homo sapiens. 7 samples. Type: Expression profiling by high throughput sequencing.
A potential relationship among beta-defensins haplotype, SOX7 duplication and cardiac defects
GEO Series GSE48386. Homo sapiens. 4 samples. Type: Genome variation profiling by SNP array; SNP genotyping by SNP array.
The DGCR8 E518K mutation found in Wilms tumors leads to a partial miRNA processing defect that alters gene expression and biological processes (mRNA-seq)
GEO Series GSE165269. Mus musculus. 6 samples. Type: Expression profiling by high throughput sequencing.
A non-syndromic orofacial cleft risk locus links tRNA splicing defects to neural crest cell pathologies [Ribo-seq]
GEO Series GSE269561. Homo sapiens. 6 samples. Type: Other.
Defective N-Glycosylation of IL6 Induces Metastasis and Tyrosine Kinase Inhibitor Resistance in Lung Cancer
GEO Series GSE269782. Homo sapiens. 9 samples. Type: Expression profiling by array.
DSS-colitis induced in young age accelerates the onset of cognitive defects in Tg2576 mice, a model of Alzheimer disease
GEO Series GSE253108. Mus musculus. 44 samples. Type: Other.
Cell-to-cell variation in defective virus expression and effect on host response during influenza virus infection
GEO Series GSE118773. Homo sapiens; Canis lupus familiaris; Influenza A virus (A/Puerto Rico/8/1934(H1N1)). 33 samples. Type: Expression profiling by high throughput sequencing; Other.
Diarrhea in lymphocytic colitis: ERK1/2-dependent ENaC dysregulation and claudin-4-, -5- and -8-related barrier defects
GEO Series GSE65107. Homo sapiens. 8 samples. Type: Expression profiling by high throughput sequencing.
Translatome and Translation dynamics analysis of a RiboCancer cell line panel reveals that leukemia-associated Rps15 Mutations Rewire Translation through Codon-Specific tRNA Accommodation defects.
GEO Series GSE310057. Mus musculus. 48 samples. Type: Other; Expression profiling by high throughput sequencing.
Patterning and gastrulation defects caused by the tw18 lethal are due to loss of Ppp2r1a
GEO Series GSE89734. Mus musculus. 3 samples. Type: Expression profiling by high throughput sequencing.
ScienceDex guides
Understand access before you commit
These curated guides explain access requirements, typical timelines, costs, and reuse considerations for widely used research datasets.
Allen Brain Atlas
Allen Brain Atlas is an Allen Institute collection of brain map atlases, datasets, APIs, and analysis tools covering mouse, human, and non-human primate brain resources.
Annotated Behaviour and Observability Dataset (ABODe)
ABODe is a University of Edinburgh DataShare dataset for behavior classification in group-housed mice using home-cage video, identities, bounding boxes, ground-plate positions, and annotator labels.
DANDI Archive for NWB datasets
DANDI is a BRAIN Initiative archive for publishing and sharing neurophysiology data, including electrophysiology, optophysiology, and behavioral data packaged as NWB and related standards.
International Brain Laboratory public data
The International Brain Laboratory public data releases expose standardized mouse decision-making experiments, including Neuropixels recordings, widefield calcium imaging, behavior, and session metadata accessed through the ONE API.
OpenNeuro
OpenNeuro is a free, open platform for sharing neuroimaging datasets, with public search, dataset pages, and download paths for web, S3, DataLad, and the OpenNeuro CLI.