Understanding access to genomics in an ethnically diverse south Florida population: A comparison of demographics in odyssey and rapid whole genome sequencing programs.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of genetic counseling"
DOI: 10.1002/jgc4.1281
Abstract: Advances in genomic medicine have evolved to include rapid whole genome sequencing (rWGS) in pediatric intensive care settings. Traditionally, genetic testing was conducted in outpatient clinics, with stepwise genetic testing occurring over several years. This… read more here.
Keywords: whole genome; rapid whole; odyssey program; ethnically diverse ... See more keywords
Rapid whole‐brain myelin imaging with selective inversion recovery and compressed SENSE
Sign Up to like & getrecommendations! Published in 2022 at "Magnetic Resonance in Medicine"
DOI: 10.1002/mrm.29512
Abstract: Quantitative magnetization transfer (QMT) using selective inversion recovery (SIR) can quantify the macromolecular‐to‐free proton pool size ratio (PSR), which has been shown to relate closely with myelin content. Currently clinical applications of SIR have been… read more here.
Keywords: rapid whole; selective inversion; sense; inversion recovery ... See more keywords
Rapid whole-genome sequencing identifies a novel GABRA1 variant associated with West syndrome
Sign Up to like & getrecommendations! Published in 2017 at "Cold Spring Harbor Molecular Case Studies"
DOI: 10.1101/mcs.a001776
Abstract: A 9-mo-old infant was admitted with infantile spasms that improved on administration of topiramate and steroids. He also had developmental delay, esotropia, and hypsarrhythmia on interictal electroencephalogram (EEG), and normal brain magnetic resonance imaging (MRI).… read more here.
Keywords: whole genome; west syndrome; rapid whole; sequencing identifies ... See more keywords
Rapid whole-genome sequencing identifies a novel homozygous NPC1 variant associated with Niemann–Pick type C1 disease in a 7-week-old male with cholestasis
Sign Up to like & getrecommendations! Published in 2017 at "Cold Spring Harbor Molecular Case Studies"
DOI: 10.1101/mcs.a001966
Abstract: Niemann–Pick type C disease (NPC; OMIM #257220) is an inborn error of intracellular cholesterol trafficking. It is an autosomal recessive disorder caused predominantly by mutations in NPC1. Although characterized as a progressive neurological disorder, it… read more here.
Keywords: novel homozygous; rapid whole; pick type; type disease ... See more keywords
Automatic and rapid whole-body 3D shape measurement based on multinode 3D sensing and speckle projection.
Sign Up to like & getrecommendations! Published in 2017 at "Applied optics"
DOI: 10.1364/ao.56.008759
Abstract: Automatic and rapid whole-body 3D shape measurement has attracted extensive attention in recent years and been widely used in many fields. Rapid 3D reconstruction, automatic 3D registration, and dedicated system layout are critical factors to… read more here.
Keywords: body shape; rapid whole; measurement; whole body ... See more keywords
(65) The Utility of Rapid Whole Exome Sequencing in the Management of Critically Ill Children: A Case Series
Sign Up to like & getrecommendations! Published in 2018 at "Pediatrics"
DOI: 10.1542/peds.142.1_meetingabstract.75
Abstract: Purpose : Rapid whole exome sequencing (WES) is a modern tool for the diagnosis of diseases when there is a high index of suspicion for a genetic basis in a critically ill patient. WES is… read more here.
Keywords: exome sequencing; rapid whole; case series; critically ill ... See more keywords
Cost Efficacy of Rapid Whole Genome Sequencing in the Pediatric Intensive Care Unit
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2021.809536
Abstract: The diagnostic and clinical utility of rapid whole genome sequencing (rWGS) for critically ill children in the intensive care unit (ICU) has been substantiated by multiple studies, but comprehensive cost-effectiveness evaluation of rWGS in the… read more here.
Keywords: genome sequencing; cost; rwgs; care ... See more keywords
Rapid Whole-Body FDG PET/MRI in Oncology Patients: Utility of Combining Bayesian Penalised Likelihood PET Reconstruction and Abbreviated MRI
Sign Up to like & getrecommendations! Published in 2023 at "Diagnostics"
DOI: 10.3390/diagnostics13111871
Abstract: This study evaluated the diagnostic value of a rapid whole-body fluorodeoxyglucose (FDG) positron emission tomography (PET)/magnetic resonance imaging (MRI) approach, combining Bayesian penalised likelihood (BPL) PET with an optimised β value and abbreviated MRI (abb-MRI).… read more here.
Keywords: pet mri; oncology; whole body; mri ... See more keywords
Rapid Whole Genome Sequencing in Critically Ill Neonates Enables Precision Medicine Pipeline
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Personalized Medicine"
DOI: 10.3390/jpm12111924
Abstract: Rapid genome sequencing in critically ill infants is increasingly identified as a crucial test for providing targeted and informed patient care. We report the outcomes of a pilot study wherein eight critically ill neonates received… read more here.
Keywords: critically ill; genome sequencing; whole genome; rapid whole ... See more keywords