Search Results - "Watkins, Kelly"
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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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Journal Article -
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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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Journal Article -
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NGL-2 regulates pathway-specific neurite growth and lamination, synapse formation, and signal transmission in the retina
Published in The Journal of neuroscience (17-07-2013)“…Parallel processing is an organizing principle of many neural circuits. In the retina, parallel neuronal pathways process signals from rod and cone…”
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Journal Article -
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Clavulanic acid reduces rewarding, hyperthermic and locomotor-sensitizing effects of morphine in rats: A new indication for an old drug?
Published in Drug and alcohol dependence (01-09-2014)“…Abstract Background Despite the efficacy of ceftriaxone (CTX) in animal models of CNS diseases, including drug addiction, its utility as a CNS-active…”
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P610: Identification of trinucleotide repeat expansions in DMPK using rapid whole genome sequencing
Published in Genetics in Medicine Open (2024)Get full text
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Forebrain AVT and courtship in a fish with male alternative reproductive tactics
Published in Brain research bulletin (01-02-2002)“…In this paper, we present the results of cellular and molecular studies on the neuroendocrine correlates of male sexual polymorphism in a population of the…”
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Journal Article Conference Proceeding -
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At home enzyme replacement therapy for patients with lysosomal disorders: A single-centre experience
Published in Molecular genetics and metabolism (01-02-2023)Get full text
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Cipaglucosidase alfa and miglustat under the Early Access to Medicines Scheme (EAMS): A single centre experience
Published in Molecular genetics and metabolism (01-02-2023)Get full text
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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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Genome sequencing detects a wide range of clinically relevant copy-number variants and other genomic alterations
Published in Genetics in medicine (01-01-2024)“…Copy-number variants (CNVs) and other non-single nucleotide variant/indel variant types contribute an important proportion of diagnoses in individuals with…”
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Su1771 - Prevalence of Germline Mutations in Individuals with Multiple Colon Polyps
Published in Gastroenterology (New York, N.Y. 1943) (01-04-2017)Get full text
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Prevalence of Germline Mutations in Individuals with Multiple Colon Polyps
Published in Gastroenterology (New York, N.Y. 1943) (01-04-2017)Get full text
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Creation of a Research-Based New Teacher Mentoring Program Focused on Relationships
Published 01-01-2021“…The objective of this study was to design a new teacher mentoring program based on research in the field. This program starts with a post-planning mentor…”
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Dissertation -
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Rapid whole genome sequencing has clinical utility in children in the pediatric intensive care unit
Published in Pediatric critical care medicine (01-11-2019)Get full text
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Autosomal recessive LRP1-related syndrome featuring cardiopulmonary dysfunction, bone dysmorphology, and corneal clouding
Published in Cold Spring Harbor molecular case studies (01-10-2022)“…We provide the first study of two siblings with a novel autosomal recessive LRP1-related syndrome identified by rapid genome sequencing and overlapping…”
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Journal Article -
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Rapid whole-genome sequencing identifies a novel AIRE variant associated with autoimmune polyendocrine syndrome type 1
Published in Cold Spring Harbor molecular case studies (01-06-2018)“…Autoimmune polyendocrine syndrome type 1 (APS-1; OMIM #240300), also referred to as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), is…”
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Journal Article -
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Differential characteristics of memory aptitude as a function of cognitive ability and mathematics achievement in children diagnosed with learning disabilities
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Dissertation -
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Differential characteristics of memory aptitude as a function of cognitive ability and mathematics achievement in children diagnosed with learning disabilities
Published 01-01-1998“…The influence of memory ability and IQ on mathematics achievement was studied in 68 children diagnosed with a specific learning disability. An ex post facto…”
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Dissertation -
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EXECUTIVE SUMMARY
Published in Journal of Accountancy (01-04-2005)Get full text
Trade Publication Article -
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Will They Throw Eggs?
Published in Journal of Accountancy (01-04-2005)“…To meet the requirements of Sarbanes-Oxley, CPAs are making more oral and written presentations than ever before to more diverse groups, including audit…”
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Trade Publication Article