Search Results - "Caylor, Sara"
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A Prospective Study of Parental Perceptions of Rapid Whole-Genome and -Exome Sequencing among Seriously Ill Infants
Published in American journal of human genetics (05-11-2020)“…Rapid diagnostic genomic sequencing recently became feasible for infants in intensive care units (ICUs). However, research regarding parents' perceived…”
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A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants
Published in American journal of human genetics (03-10-2019)“…The second Newborn Sequencing in Genomic Medicine and Public Health study was a randomized, controlled trial of the effectiveness of rapid whole-genome or…”
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An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm
Published in American journal of human genetics (05-11-2020)“…The second Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT2) study was a randomized, controlled trial of rapid whole-genome sequencing (rWGS)…”
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Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease
Published in Npj genomic medicine (22-04-2021)“…Congenital heart disease (CHD) is the most common congenital anomaly and a major cause of infant morbidity and mortality. While morbidity and mortality are…”
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Breaking Barriers to Rapid Whole Genome Sequencing in Pediatrics: Michigan's Project Baby Deer
Published in Children (Basel) (04-01-2023)“…The integration of precision medicine in the care of hospitalized children is ever evolving. However, access to new genomic diagnostics such as rapid whole…”
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Publisher Correction: Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease
Published in Npj genomic medicine (26-05-2021)Get full text
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Author Correction: Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease
Published in Npj genomic medicine (26-05-2021)Get full text
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Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children’s hospitals demonstrates improved clinical outcomes and reduced costs of care
Published in American journal of human genetics (01-07-2021)“…Genetic disorders are a leading contributor to mortality in neonatal and pediatric intensive care units (ICUs). Rapid whole-genome sequencing (rWGS)-based…”
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Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation
Published in Science translational medicine (24-04-2019)“…By informing timely targeted treatments, rapid whole-genome sequencing can improve the outcomes of seriously ill children with genetic diseases, particularly…”
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A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases
Published in American journal of human genetics (01-09-2022)“…Newborn screening (NBS) dramatically improves outcomes in severe childhood disorders by treatment before symptom onset. In many genetic diseases, however,…”
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Rapid Whole Genome Sequencing Has Clinical Utility in Children in the PICU
Published in Pediatric critical care medicine (01-11-2019)“…Genetic disorders are a leading contributor to mortality in the neonatal ICU and PICU in the United States. Although individually rare, there are over 6,200…”
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Assessing Diversity in Newborn Genomic Sequencing Research Recruitment: Race/Ethnicity and Primary Spoken Language Variation in Eligibility, Enrollment, and Reasons for Declining
Published in Clinical therapeutics (01-08-2023)“…•Speaking a language other than English or Spanish significantly decreases access to diagnostic genomic research.•Participation in diagnostic genomic research…”
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Response to Grosse et al
Published in American journal of human genetics (01-06-2023)Get full text
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