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.
518
datasets available to search
ShareScore release 0.9.0
Dataset results
518 results for “Hereditary”
Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks in Patients With Hereditary Angioedema
ClinicalTrials.gov study NCT00262301. IPD Sharing: Not stated. Countries: 2. Publications: 3.
NEURO-TTRansform: A Study to Evaluate the Efficacy and Safety of Eplontersen (Formerly Known as ION-682884, IONIS-TTR-LRx and AKCEA-TTR-LRx) in Participants With Hereditary Transthyretin-Mediated Amyl
ClinicalTrials.gov study NCT04136184. IPD Sharing: NO. Countries: 16. Publications: 3.
Theophylline as a Treatment for Children With Pseudohypoparathyroidism Type 1a (Albright Hereditary Osteodystrophy)
ClinicalTrials.gov study NCT02463409. IPD Sharing: YES. Countries: 1. Publications: 2.
Subcutaneous Treatment With Icatibant for Acute Attacks of Hereditary Angioedema (HAE)
ClinicalTrials.gov study NCT00500656. IPD Sharing: Not stated. Countries: 1. Publications: 3.
A Study of STAR-0215 in Participants With Hereditary Angioedema
ClinicalTrials.gov study NCT05695248. IPD Sharing: NO. Countries: 6. Publications: 0.
L-Serine Supplementation in Hereditary Sensory Neuropathy Type 1
ClinicalTrials.gov study NCT01733407. IPD Sharing: UNDECIDED. Countries: 1. Publications: 2.
A Study to Evaluate the Long-term Clinical Safety and Efficacy of Subcutaneously Administered C1-esterase Inhibitor in the Prevention of Hereditary Angioedema
ClinicalTrials.gov study NCT02316353. IPD Sharing: Not stated. Countries: 11. Publications: 4.
A Study of Lanadelumab in Persons With Hereditary Angioedema (HAE) Type I or II in North America
ClinicalTrials.gov study NCT03845400. IPD Sharing: YES. Countries: 3. Publications: 4.
Efficacy and Safety of BCX7353 to Prevent Angioedema Attacks in Subjects With Hereditary Angioedema
ClinicalTrials.gov study NCT02870972. IPD Sharing: YES. Countries: 11. Publications: 3.
A Double-Blind, Multiple Ascending Dose Study to Assess Safety, Tolerability and Pharmacokinetics of DX-2930 in Hereditary Angioedema Participants
ClinicalTrials.gov study NCT02093923. IPD Sharing: Not stated. Countries: 3. Publications: 1.
Is it Feasible?: Self-Affirmation for Hereditary Breast and Ovarian Cancer Genetic Counseling
ClinicalTrials.gov study NCT03225170. IPD Sharing: Not stated. Countries: 1. Publications: 4.
Timolol Gel for Epistaxis in Hereditary Hemorrhagic Telangiectasia
ClinicalTrials.gov study NCT04139018. IPD Sharing: Not stated. Countries: 1. Publications: 1.
Diet and Hereditary Haemorrhagic Telangiectasia
ClinicalTrials.gov study NCT01692015. IPD Sharing: NO. Countries: 1. Publications: 4.
Data from: Schwann cell transcript biomarkers for hereditary neuropathy skin biopsies
Open the record for dataset details and reuse information.
Involvement of the optic nerve in mutated CSF1R-induced hereditary diffuse leukoencephalopathy with axonal spheroids
<p>Figure legends</p> <p>Figure 1: Family pedigree. The arrow indicates the proband (present patient). Her mother developed a motor disorder at 40 years of age and died at 60 years of age. Her grandparents, father, brothers, sisters, and daughters were not affected.</p> <p> </p> <p>Figure 2: Brain MRI, DWI, DTI, and MRS images. T2/Flair showed multifocal periventricular white matter lesions (A, B, and C), without enhancement (D). DWI shows high-signal intensities in periventricular white matters and corpus callosum (E, F). DTI shows decreased numbers of corpus callosum fibers, while subcortical arcuate fibers are spared (G). MRS shows increased Cho levels, while NAA levels are decreased in the white matter lesions (H, I).</p> <p> </p> <p>Figure 3: Optic nerves on MRI, showing that bilateral optic nerves are injured (red arrows).</p> <p> </p> <p>Figure 4: OCT shows that the right peripapillary retinal nerve fiber layer (pRNFL) is atrophic in the temporal quadrant, and the left pRNFL is thinning in the temporal superior quadrants. Green represents pRNFL thickness, which is within normal limits; yellow represents pRNFL thickness, which is below borderline; red represents pRNFL thickness, which is below normal limits.</p> <p> </p> <p>Figure 5: VEP shows reduced bilateral P100 amplitudes, although P100 latencies are normal in both eyes.</p> <p> </p> <p>Figure 6: Visual fields in the right eye are partially missing in the upper right, lower right, and lower left quadrants, especially in the lower right quadrant. Visual fields in the left eye are partially missing in the four quadrants, especially in the upper left and lower right quadrants.</p> <p> </p> <p>Figure 7: Gene analysis of CSF1R. The sequencing result from exon 18 of CSF1R (NM_005211.3) indicates a heterozygous c.2345 G>A (p.782Arg>His) substitution in the patient.</p>
Development and validation of a 36-gene sequencing assay for hereditary cancer risk assessment
<p>Sanger and MLPA datasets for the article "Development and validation of a 36-gene sequencing assay for hereditary cancer risk assessment" (http://dx.doi.org/10.1101/088252).</p>
TRACE Dataset: Predicting molecular mechanisms of hereditary diseases by using their tissue-selective manifestation
<p>Features dataset, as described in Simonovsky, Eyal, et al. "Predicting molecular mechanisms of hereditary diseases by using their tissue‐selective manifestation." <i>Molecular Systems Biology</i> (2023): e11407.</p><p>Article: https://doi.org/10.15252/msb.202211407</p><p>Code: https://github.com/eyalsim/trace</p>
A Study of Canakinumab in Patients With Systemic Juvenile Idiopathic Arthritis or Hereditary Periodic Fevers Who Participated in the CACZ885G2301E1, CACZ885G2306 or CACZ885N2301 Studies
ClinicalTrials.gov study NCT02334748. IPD Sharing: UNDECIDED. Countries: 1. Publications: 0.
Triple Negative Breast Cancer and Germline Hereditary Breast and Ovarian Cancer Mutation Carrier Registry
ClinicalTrials.gov study NCT02302742. IPD Sharing: Not stated. Countries: 1. Publications: 2.
Institutional Registry of Haemorrhagic Hereditary Telangiectasia
ClinicalTrials.gov study NCT01761981. IPD Sharing: NO. Countries: 1. Publications: 1.
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.