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ShareScore release 0.9.0
Dataset results
67 results for “newborn screening”
Next-generation sequencing of newborn screening genes: The accuracy of short-read mapping
<p>We examine the effect of high homology genomic regions on the mapping of genes related to newborn screening while taking different read lengths and patient's ethnic background into consideration.</p>
North Carolina Newborn Exome Sequencing for Universal Screening
ClinicalTrials.gov study NCT02826694. IPD Sharing: YES. Countries: 1. Publications: 1.
NeoSCB App for Screening Jaundice in Newborns
ClinicalTrials.gov study NCT06963450. IPD Sharing: UNDECIDED. Countries: 1. Publications: 4.
Cystic Fibrosis Diagnosis in Newborns with Machine Learning]{Newborn Cystic Fibrosis Diagnosis Made Accurate and Efficient with Machine Learning to Reduce False Positives in IRT-Trypsinogen Immunoreactive Screening Program
<p>Datasets to training models in this article and generator code.</p>
Supplemantal tables for "A Non-targeted Proteomics Newborn Screening Platform for Genetic Disorders".
<p>Table S1 (List of proteins identified in DBS samples analyzed in the study).</p> <p>The list includes identified proteins with peptide and protein false discovery rates < 1%. Proteins shown in black are those identified by unique peptide sequences that were clearly distinguishable from others. Proteins shown in blue represent grouped master proteins. Proteins shown in grey represent grouped proteins. A quantitative value of “0” indicates that the protein was detected, but did not reach a level sufficient for quantification.</p> <p>Table S2 (Proteins identified in DBS samples that are listed in OMIM)</p> <p>List of proteins identified in every healthy newborn sample that are included in the OMIM database. The list includes identified proteins with peptide and protein false discovery rates < 1%. AD, autosomal dominant; AR, autosomal recessive; ARLOF, autosomal recessive loss of function; XL, X-linked; IUIS2022, 2022 Classification of Human Inborn Errors of Immunity by the International Union of Immunological Societies Expert Committee.</p>
Newborn Bloodspot Screening Animation
<p>An animation to provide information about Newborn Bloodspot Screening in the UK</p>
Newborn Screening for Spinal Muscular Atrophy (SMA) - a Proof of Principle Study Using Anonymised Blood Spots.
ClinicalTrials.gov study NCT05237544. IPD Sharing: UNDECIDED. Countries: 1. Publications: 1.
Longitudinal Observational Study on the Course of Cystic Fibrosis Lung Disease in Patients Following Newborn Screening
ClinicalTrials.gov study NCT02270476. IPD Sharing: Not stated. Countries: 1. Publications: 5.
Early Check: Expanded Screening in Newborns
ClinicalTrials.gov study NCT03655223. IPD Sharing: UNDECIDED. Countries: 1. Publications: 2.
Genomic Uniformed-Screening Against Rare Disease In All Newborns
ClinicalTrials.gov study NCT05990179. IPD Sharing: NO. Countries: 1. Publications: 1.
Genetic Newborn Screening for Cystinosis and Spinal Muscular Atrophy
ClinicalTrials.gov study NCT06027385. IPD Sharing: NO. Countries: 1. Publications: 6.
Ultrasound Screening for Developmental Dysplasia of the Hip in Newborns
ClinicalTrials.gov study NCT01818934. IPD Sharing: Not stated. Countries: 1. Publications: 7.
Prospective Study of the Phenotypic Expression of Cystic Fibrosis (CF) Screened Positive Newborns With an Atypical Form of CF (DPAM)
ClinicalTrials.gov study NCT02869932. IPD Sharing: Not stated. Countries: 1. Publications: 1.
A Program to Increase Sickle Cell Trait Knowledge Among Parent of Young Children Identified in Newborn Screening
ClinicalTrials.gov study NCT03984500. IPD Sharing: UNDECIDED. Countries: 1. Publications: 1.
Genetic Newborn Screening for Cystinosis and Primary Hyperoxaluria
ClinicalTrials.gov study NCT05843851. IPD Sharing: NO. Countries: 1. Publications: 10.
Diagnosis of Congenital CMV Infection in Neonates Who Failed Newborn Hearing Screening
ClinicalTrials.gov study NCT02139423. IPD Sharing: Not stated. Countries: 1. Publications: 1.
Sun May Arise on SMA : Newborn Screening of Spinal Muscular Atrophy in Belgium
ClinicalTrials.gov study NCT03554343. IPD Sharing: NO. Countries: 1. Publications: 1.
Newborn Screening for Spinal Muscular Atrophy
ClinicalTrials.gov study NCT02123186. IPD Sharing: Not stated. Countries: 1. Publications: 1.
Long QT Syndrome Screening in Newborns
ClinicalTrials.gov study NCT02412709. IPD Sharing: Not stated. Countries: 1. Publications: 52.
Newborn Screening for Congenital Heart Disease
ClinicalTrials.gov study NCT01665261. 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.