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1,336 results for “congenital”
GnRH deficient patients with congenital hypogonadotropic hypogonadism: Novel genetic findings in ANOS1, RNF216, WDR11, FGFR1, CHD7 and POLR3A genes
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Data from: Characterization of a novel fusion gene EML4-NTRK3 in a case of recurrent congenital fibrosarcoma
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The power of vision: Calibration of auditory space after sight restoration from congenital cataracts
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Data from: Drosophila studies support a role for a presynaptic synaptotagmin mutation in a human congenital myasthenic syndrome
During chemical transmission, the function of synaptic proteins must be coordinated to efficiently release neurotransmitter. Synaptotagmin 2, the Ca2+ sensor for fast, synchronized neurotransmitter release at the human neuromuscular junction, has recently been implicated in a dominantly inherited congenital myasthenic syndrome associated with a non-progressive motor neuropathy. In one family, a proline residue within the C2B Ca2+-binding pocket of synaptotagmin is replaced by a leucine. The functional significance of this residue has not been investigated previously. Here we show that in silico modeling predicts disruption of the C2B Ca2+-binding pocket, and we examine the in vivo effects of the homologous mutation in Drosophila. When expressed in the absence of native synaptotagmin, this mutation is lethal, demonstrating for the first time that this residue plays a critical role in synaptotagmin function. To achieve expression similar to human patients, the mutation is expressed in flies carrying one copy of the wild type synaptotagmin gene. We now show that Drosophila carrying this mutation developed neurological and behavioral manifestations similar to those of human patients and provide insight into the mechanisms underlying these deficits. Our Drosophila studies support a role for this synaptotagmin point mutation in disease etiology.
Data from: Perfusion index in newborns during critical congenital heart disease screening at 24 hours in healthy newborns: retrospective observational study from the United States
Objective: To describe the distribution of Perfusion Index (PI) in asymptomatic newborns at 24 hours of life when screening for Critical Congenital Heart Disease (CCHD) using an automated data selection method. Design: This is a retrospective observational study. Setting: Newborn nursery in a California public hospital with 3500 to 4000 deliveries annually. Methods: We developed an automated program to select the PI values from CCHD screens. Included were term and late preterm infants who were screened for CCHD from November 2013 to January 2014 and from May 2015 to July 2015. PI measurements were downloaded every 2 seconds from the pulse oximeter and median PI were calculated for each oxygen saturation screen in our cohort. Results: We included data from 2768 oxygen saturation screens. Each screen had a median of 29 data points (interquartile range 17 to 49). The median PI in our study cohort was 1.8 (95% confidence interval 1.8 to 1.9) with interquartile range 1.2 to 2.7. The median pre-ductal PI was significantly higher than the median post-ductal (1.9 vs. 1.8, p = 0.03) although this difference may not be clinically significant. Conclusion: Using an automated data selection method, the median PI in asymptomatic newborns at 24 hours of life is 1.8 with a narrow interquartile range of 1.2 to 2.7. This automated data selection method may improve accuracy and precision compared to manual data collection method. Further studies are needed to establish external validity of this automated data selection method and its clinical application for CCHD screening.
Pulse Oximetry as a Tool for Neonatal Screening and Early Diagnosis of Critical Congenital Heart Disease
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CONGENITAL HEART DEFECTS
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Depletion of hypercapnia-responsive neurons in human cerebral- and brainstem-organoids of congenital central hypoventilation syndrome
<p>key Rdata for the paper.</p>
Supplementary material - Delineating the psychiatric morbidity spectrum in congenital adrenal hyperplasia: a population-based registry study
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Antiviral Tfh response by "immunotolerant" virus carriers drives antibody-mediated control of congenital infection
<p>Analysed and annotated SingleCellExperiment object </p>
Integrative single-cell analysis of cardiogenesis identifies developmental trajectories and non-coding mutations in congenital heart disease (Invitro ArchR Object)
<p>This repo contains invitro ArchR object</p>
Integrative single-cell analysis of cardiogenesis identifies developmental trajectories and non-coding mutations in congenital heart disease (Invivo ArchR Object)
<p>This repo contains invivo ArchR object</p>
Nasal Reconstruction Using a Customized 3D-printed Nasal Stent for Congenital Arhinia
ClinicalTrials.gov study NCT02559050. IPD Sharing: Not stated. Countries: 0. Publications: 1.
Screening of Congenital Anomalies of Kidney
ClinicalTrials.gov study NCT06440499. IPD Sharing: NO. Countries: 0. Publications: 1.
Nutrition In Preoperative Pediatric Congenital Heart Disease
ClinicalTrials.gov study NCT05457712. IPD Sharing: NO. Countries: 0. Publications: 1.
Red Flags for Cardiac Examination for Early Detection of Congenital Heart Disease
ClinicalTrials.gov study NCT04801251. IPD Sharing: YES. Countries: 0. Publications: 3.
Congenital Anomalies in Infants of Diabetic Mother
ClinicalTrials.gov study NCT05393167. IPD Sharing: NO. Countries: 0. Publications: 10.
Screening For Critical Congenital Anomalies In NICU And Their Out Come
ClinicalTrials.gov study NCT03882385. IPD Sharing: Not stated. Countries: 0. Publications: 1.
Point-Of-Care Testing for Congenital Syphilis in Mothers and Newborns
ClinicalTrials.gov study NCT03814096. IPD Sharing: YES. Countries: 1. Publications: 0.
Use of Tirosint®-SOL or Tablet Formulations of Levothyroxine in Pediatric Patients With Congenital Hypothyroidism (CH)
ClinicalTrials.gov study NCT05228184. IPD Sharing: NO. Countries: 1. Publications: 0.
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.