Find research datasets worth reusing
Search datasets from major research repositories and use ShareScore to quickly assess how well each record supports discovery, access, and reuse.
227
datasets available to search
ShareScore release 0.9.0
Dataset results
227 results for “Clinical Genetics”
Clinical, Genetic and Epigenetic Characterization of Patients With FSHD Type 1 and FSHD Type 2
ClinicalTrials.gov study NCT01970735. IPD Sharing: Not stated. Countries: 1. Publications: 1.
Genetic Susceptibility in MAlignant Pleural Mesothelioma: Clinical Implication of GermliNE VariaTionS
ClinicalTrials.gov study NCT06886672. IPD Sharing: Not stated. Countries: 1. Publications: 3.
Clinical, Immunological, Morphological and Genetic Characteristics of Patients With Dysferlinopathy (LGMD R2) in the RF
ClinicalTrials.gov study NCT04824040. IPD Sharing: Not stated. Countries: 1. Publications: 6.
GEnetic Testing in Elective Single Embryo Transfer (GETSET): A Randomized Clinical Trial
ClinicalTrials.gov study NCT06141135. IPD Sharing: NO. Countries: 1. Publications: 4.
Clinical and Genetic Characterization of Individuals With Achromatopsia
ClinicalTrials.gov study NCT01846052. IPD Sharing: Not stated. Countries: 1. Publications: 1.
Clinical and Genetic Testing of Patients With Usher Syndrome
ClinicalTrials.gov study NCT03319524. IPD Sharing: UNDECIDED. Countries: 1. Publications: 1.
Comparison Between Parkinson's Disease and Parkinson's Dementia Complex (Genetically,Clinical and Electrophysiological)
ClinicalTrials.gov study NCT05759403. IPD Sharing: UNDECIDED. Countries: 1. Publications: 13.
Relating Clinical Outcomes in Multiple Myeloma to Personal Assessment of Genetic Profile
ClinicalTrials.gov study NCT01454297. IPD Sharing: YES. Countries: 3. Publications: 4.
An Adaptive Clinical Trial of BeginNGS Newborn Screening for Hundreds of Genetic Diseases by Genome Sequencing
ClinicalTrials.gov study NCT06306521. IPD Sharing: Not stated. Countries: 1. Publications: 1.
Precision Clinical and Genetic Tools for Brain Health in Hemorrhagic Stroke
ClinicalTrials.gov study NCT05643001. IPD Sharing: NO. Countries: 1. Publications: 1.
Correlation of Genetic Polymorphisms and Clinical Parameters With the Complexity of Coronary Artery Disease
ClinicalTrials.gov study NCT03315234. IPD Sharing: UNDECIDED. Countries: 1. Publications: 6.
Data for: Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs
Open the record for dataset details and reuse information.
Clinical and genomic evaluation of 207 genetic myopathies in the Indian subcontinent
Open the record for dataset details and reuse information.
DYT-TUBB4A (DYT4 dystonia): new clinical and genetic observations
<p>Objective: To report four novel TUBB4A mutations leading to laryngeal and cervical dystonia with frequent generalization.</p> <p>Background: DYT-TUBB4A, formerly known as DYT4, has only been described in one large family and two individual cases. The clinical picture highlighted in the original family comprises laryngeal and cervical dystonia extending to generalized dystonia, plus a "hobby horse" gait disorder. The variant identified as causative in the original family was a heterozygous missense mutation R2G in exon 1 of the TUBB4A gene.</p> <p>Methods: We screened four families including a total of eleven definitely affected members with a clinical picture resembling the original description.</p> <p>Results: Four novel variants in the TUBB4A gene have been identified: D295N, R46M, Q424H, R121W. In silico modeling showed that all variants have similar characteristics to R2G. The variants segregate with the disease in three of the families with evidence of incomplete penetrance in two of them. All four variants would be classified as likely pathogenic. The clinical picture particularly included laryngeal dystonia (often the site of onset), associated with cervical and upper limb dystonia and frequent generalization. Laryngeal dystonia was extremely prevalent (>90%) both in the original cases and in this case series. The "hobby horse" gait was evident in only one patient in this case series. Interpretation: laryngeal involvement is a hallmark feature of DYT-TUBB4A. Nevertheless, TUBB4A mutations remain an exceedingly rare cause of laryngeal or other isolated dystonia.</p>
Clinical and Economic Implications of Genetic Testing for Warfarin Management
ClinicalTrials.gov study NCT00964353. IPD Sharing: Not stated. Countries: 1. Publications: 0.
Retrospective Study on Clinical Results of Preimplantation Genetic Screening at Different Embryo Stage
ClinicalTrials.gov study NCT03065114. IPD Sharing: UNDECIDED. Countries: 0. Publications: 1.
Developing Clinical Tools to Communicate Genetic Risk for Individuals Who Are Clinical High Risk for Psychosis
ClinicalTrials.gov study NCT04325568. IPD Sharing: NO. Countries: 1. Publications: 0.
Verification of Correlation Between Genetic Testing of Nutritional Metabolism and Clinical Biochemical Indicators
ClinicalTrials.gov study NCT03651934. IPD Sharing: Not stated. Countries: 0. Publications: 1.
Clinical and Genetic Studies of Familial Exudative Vitreoretinopathy
ClinicalTrials.gov study NCT00106756. IPD Sharing: Not stated. Countries: 2. Publications: 3.
Clinical and Genetic Studies of Familial Presenile Dementia With Neuronal Inclusion Bodies
ClinicalTrials.gov study NCT00006176. IPD Sharing: Not stated. Countries: 1. Publications: 3.
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.