Kathleen Hill, APN

Regulatory Coordinator II

Nemours Children's Health, Jacksonville 807 Children's Way Jacksonville, FL 32207

Education

  • PDF - Beckman Research Institute, City of Hope, Molecular Genetics, 2003
  • PhD - Western University Faculty of Science, Zoology, 1995

  • Chaos Game Representation
  • Genomic Signatures
  • Machine Learning
  • Mutagenesis
  • Mutation Signatures

  • CD44 and RHAMM Are Microenvironmental Sensors with Dual Metastasis Promoter and Suppressor Functions.; Advanced biology; (2024).

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  • Leveraging machine learning for taxonomic classification of emerging astroviruses; Frontiers in Molecular Biosciences; (2024).

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  • Decoding Mitochondrial–Nuclear (epi)genome Interactions: The Emerging Role of ncRNAs; Epigenomics; (2023).

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  • Environment and taxonomy shape the genomic signature of prokaryotic extremophiles; Scientific Reports; (2023).

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  • iDeLUCS: a deep learning interactive tool for alignment-free clustering of DNA sequences; Bioinformatics; (2023).

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  • Environment and taxonomy shape the genomic signature of prokaryotic extremophiles; Unknown Source; (2023).

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  • iDeLUCS: A deep learning interactive tool for alignment-free clustering of DNA sequences; Unknown Source; (2023).

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  • Mutational Patterns Observed in SARS-CoV-2 Genomes Sampled From Successive Epochs Delimited by Major Public Health Events in Ontario, Canada: Genomic Surveillance Study; JMIR Bioinformatics and Biotechnology; (2022).

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  • Genomic surveillance of SARS-CoV-2 in Ontario, Canada reveals biases in mutational patterns between successive epochs delimited by major public health events (Preprint); Unknown Source; (2022).

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  • SomaticSiMu: a mutational signature simulator; Bioinformatics; (2022).

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  • Colonization of <i>Brachypodium distachyon</i> by <i>Gluconacetobacter diazotrophicus</i> and its effect on plant growth promotion; Canadian Journal of Plant Science; (2022).

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  • DeLUCS: Deep learning for unsupervised clustering of DNA sequences; PLOS ONE; (2022).

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  • Differential Gene Expression of Brachypodium distachyon Roots Colonized by Gluconacetobacter diazotrophicus and the Role of BdCESA8 in the Colonization; Molecular Plant-Microbe Interactions®; (2021).

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  • Machine learning using intrinsic genomic signatures for rapid classification of novel pathogens: COVID-19 case study; PLoS ONE; (2020).

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  • Postzygotic Somatic Mutations in the Human Brain Expand the Threshold-Liability Model of Schizophrenia; Frontiers in Psychiatry; (2020).

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  • MLDSP-GUI: An alignment-free standalone tool with an interactive graphical user interface for DNA sequence comparison and analysis; Bioinformatics; (2020).

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  • Embracing an interdisciplinary approach to plastics pollution awareness and action; Ambio; (2019).

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  • ML-DSP: Machine Learning with Digital Signal Processing for ultrafast, accurate, and scalable genome classification at all taxonomic levels; BMC Genomics; (2019).

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  • Spatial statistical tools for genome-wide mutation cluster detection under a microarray probe sampling system; PLoS ONE; (2018).

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  • Genomic copy number variation in Mus musculus; BMC Genomics; (2015).

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  • Mapping the space of genomic signatures; PLoS ONE; (2015).

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  • Whole-retina reduced electrophysiological activity in mice bearing retina-specific deletion of vesicular acetylcholine transporter; PLoS ONE; (2015).

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  • Relatively high rates of G: C → A: T transitions at CpG sites were observed in certain epithelial tissues including pancreas and submaxillary gland of adult big blue® mice; Environmental and Molecular Mutagenesis; (2014).

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  • Indentation and needle insertion properties of the human eye; Eye (Basingstoke); (2014).

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  • Identification of anomalous features of intravitreal injections using micro-computed tomography; Current Eye Research; (2013).

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  • HD-CNV: Hotspot detector for copy number variants; Bioinformatics; (2013).

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  • A framework for modeling ocular drug transport and flow through the eye using micro-CT; Physics in Medicine and Biology; (2012).

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  • Vision deficits precede structural losses in a mouse model of mitochondrial dysfunction and progressive retinal degeneration; Experimental Eye Research; (2011).

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  • Mutation frequency is not elevated in the cerebellum of harlequin/Big Blue® mice but Class II deletions occur preferentially in young harlequin cerebellum; Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis; (2011).

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  • Ocular pathology relevant to glaucoma in a Gja1 <sup>Jrt/+</sup> mouse model of human oculodentodigital dysplasia; Investigative Ophthalmology and Visual Science; (2011).

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  • Radiation exposure differentially affects songbird 8-hydroxy-2′-deoxyguanosine plasma profiles: Ionizing radiation damage response in songbirds; Environmental and Molecular Mutagenesis; (2011).

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  • A novel Escherichia coli-derived mutation detected with the Big Blue® cII mutant selectable assay; Environmental and Molecular Mutagenesis; (2010).

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  • Heart tissue of harlequin (hq)/Big Blue<sup>®</sup> mice has elevated reactive oxygen species without significant impact on the frequency and nature of point mutations in nuclear DNA; Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis; (2010).

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  • Spontaneous mutation frequency is elevated in skin of harlequin (hq)/Big Blue® mice; Mutagenesis; (2010).

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  • A novel germline mutation in Big Blue® mice; Environmental and Molecular Mutagenesis; (2009).

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  • Risk factors for inhibitor formation in haemophilia: A prevalent case-control study; Haemophilia; (2009).

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  • Somatic microindels in human cancer: The insertions are highly error-prone and derive from nearby but not adjacent sense and antisense templates; Human Molecular Genetics; (2008).

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  • Evidence for mutation showers; Proceedings of the National Academy of Sciences of the United States of America; (2007).

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  • Somatic microindels: Analysis in mouse soma and comparison with the human germline; Human Mutation; (2007).

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  • A mouse model for nonsense mutation bypass therapy shows a dramatic multiday response to geneticin; Proceedings of the National Academy of Sciences of the United States of America; (2007).

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  • Database of somatic mutations in EGFR with analyses revealing indel hotspots but no smoking-associated signature; Human Mutation; (2007).

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  • Most spontaneous tumors in a mouse model of Li-Fraumeni syndrome do not have a mutator phenotype; Carcinogenesis; (2006).

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  • Preferential occurrence of 1-2 microindels; Human Mutation; (2006).

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  • Viral genome compression; Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics); (2006).

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  • The spectrum of genomic signatures: From dinucleotides to chaos game representation; Gene; (2005).

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  • Tissue-specific time courses of spontaneous mutation frequency and deviations in mutation pattern are observed in middle to late adulthood in big blue mice; Environmental and Molecular Mutagenesis; (2005).

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  • Spontaneous Mutation in Big Blue® Mice from Fetus to Old Age: Tissue-Specific Time Courses of Mutation Frequency but Similar Mutation Types; Environmental and Molecular Mutagenesis; (2004).

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  • Spontaneous multiple mutations show both proximal spacing consistent with chronocoordinate events and alterations with p53-deficiency; Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis; (2004).

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  • Spontaneous tandem-base mutations (TBM) show dramatic tissue, age, pattern and spectrum specificity; Mutation Research - Genetic Toxicology and Environmental Mutagenesis; (2003).

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  • Single-Cell Immunohistochemical Mutation Load Assay (SCIMLA) Using Human Paraffin-Embedded Tissues; Environmental and Molecular Mutagenesis; (2003).

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  • Is Alu-mediated recombination an important cause of hemophilia?; Thrombosis and Haemostasis; (2002).

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  • Microdissection and molecular analysis of single cells or small cell clusters in pathology and diagnosis - Significance and challenges; Analytical Cellular Pathology; (2002).

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  • Toward efficient analysis of mutations in single cells from ethanol-fixed, paraffin-embedded, and immunohistochemically stained tissues; Laboratory Investigation; (2002).

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  • p53 as a mutagen test in breast cancer; Environmental and Molecular Mutagenesis; (2002).

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  • Frequency of recent retrotransposition events in the human factor IX gene; Human Mutation; (2001).

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  • Human germline mutation in the factor IX gene; Mutation Research - DNA Repair; (2001).

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  • Mutation frequency is reduced in the cerebellum of Big Blue® mice overexpressing a human wild type SOD1 gene; Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis; (2001).

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  • Spontaneous microdeletions and microinsertions in a transgenic mouse mutation detection system: Analysis of age, tissue, and sequence specificity; Environmental and Molecular Mutagenesis; (2001).

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  • Evidence that proximal multiple mutations in Big Blue® transgenic mice are dependent events; Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis; (2000).

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  • High plating density improves Big Blue® system efficiency without loss of sensitivity; Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis; (2000).

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  • Spontaneous mutation frequency and pattern in Big Blue® mice fed a vitamin E-supplemented diet; Environmental and Molecular Mutagenesis; (1999).

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  • Spontaneous mutations in the Big Blue® transgenic system are primarily mouse derived; Mutation Research - Reviews in Mutation Research; (1999).

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  • Tandem-base mutations occur in mouse liver and adipose tissue preferentially as G:C to T:A transversions and accumulate with age; Environmental and Molecular Mutagenesis; (1999).

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  • The Big Blue® transgenic mouse mutation detection assay: The mutation pattern of sectored mutant plaques; Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis; (1999).

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