Publications

dGH™ (directional Genomic Hybridization) Platform Analysis

2022: dGH™ Imaging and Scoring for CAS-Clover a novel high-fidelity nuclease for safe and robust generation of Tscm-enriched allogenic CAR-T cells

2022: KromaTiD Presents Comprehensive Analysis of Genomic Structural Variation at Next Gen Omics in Boston

2021: Life Science Tuesday – Austria

2021: Gene Therapy Online – Europe

2020: KromaTiD Presents at the 2020 Virtual NextGen Omics Series

2020: KromaTiD Presents at the 2020 Cell & Gene Therapy Virtual Congress

2019: KromaTiD Presents at the 2019 RARE Patient Advocacy Summit

Radiation and Dosimetry

2019: The NASA Twins Study: A Multidimensional Analysis of a Year- Long Human Space Flight

2019: Chromosome Translocations, Inversions and Telomere Length for Retrospective Biodosimetry on Exposed U.S. Atomic Veterans

2018: Molecular Cytogenetics Guides Massively Parallel Sequencing of a Radiation-Induced Chromosome Translocation in Human Cells

2017: Chromosomal and Telomeric Biomarkers of Normal Tissue Injury to Evaluate Risk of Degenerative Health Effects (Secondary Malignancy, Cardiovascular Disease) Post Radiation Therapy

2016: Long-Term Biodosimetry Redux

2015: Telomeres and Telomerase in the Radiation Response: Implications for Instability, Reprogramming, and Carcinogenesis

2014: Association of Chromosome Translocation Rate with Low Dose Occupational Radiation Exposures in U.S. Radiologic Technologists

2014: Directional Genomic Hybridization: Inversions as a Potential Biodosimeter for Retrospective Radiation Exposure.

2010: Regulatory Roles of Tankyrase 1 at Telomeres and in DNA Repair: Suppression of T-SCE and Stabilization of DNA-PKcs

2008: International Study of Factors Affecting Human Chromosome Translocations

2007: Telomeres and DNA Double Strand Breaks

2007: BiodosEPR-2006 Consensus Committee Report on Biodosimetric Methods to Evaluate Radiation Doses at Long Times After Exposure

Oncology

2023: Adaptive DNA Amplification of Synthetic Gene Circuit Opens a Way to Overcome Cancer Chemoresistance

2017: Chromosomal and Telomeric Biomarkers of Normal Tissue Injury to Evaluate Risk of Degenerative Health Effects (Secondary Malignancy, Cardiovascular Disease) Post Radiation Therapy

2015: Telomeres and Telomerase in the Radiation Response: Implications for Instability, Reprograming, and Carcinogenesis

DNA Mis-Repair

2018: Molecular Cytogenetics Guides Massively Parallel Sequencing of a Radiation-Induced Chromosome Translocation in Human Cells

2010: Regulatory Roles of Tankyrase 1 at Telomeres and in DNA Repair: Suppression of T-SCE and Stabilization of DNA-PKcs

2010: SNMIB/Apollo Protects Leading-Strand Telomeres Against NHEJ-Mediated Repair

2007: Telomeres and DNA Double Strand Breaks

Gene Editing

2024: Monitoring Genomic Structural Rearrangements Resulting from Gene Editing

2020: Detection and Modulation of DNA Translocations During Multi-Gene Genome Editing in T Cells

Genetic Diseases

2023: Efficient and Stable Makassar Base Editing in NonHuman Primates

2010: Hyper Telomere Recombination Accelerates Replicative Senescence and May Promote Premature Aging

Telomeres

019: The NASA Twins Study: A Multidimensional Analysis of a Year- Long Human Space Flight

2019: Chromosome Translocations, Inversions and Telomere Length for Retrospective Biodosimetry on Exposed U.S. Atomic Veterans

2017: Chromosomal and Telomeric Biomarkers of Normal Tissue Injury to Evaluate Risk of Degenerative Health Effects (Secondary Malignancy, Cardiovascular Disease) Post Radiation Therapy

2017: Telomeres and NextGen CO-FISH: Directional Genomic Hybridization (Telo-dGH™)

2015: Telomeres and Telomerase in the Radiation Response: Implications for Instability, Reprogramming, and Carcinogenesis

2013: TERRA, hnRNP A1, and DNA-PKcs Interactions at Human Telomeres

2010: Chromosome Orientation Fluorescence in Situ Hybridization or Strand-Specific FISH.

2010: Regulatory Roles of Tankyrase 1 at Telomeres and in DNA Repair: Suppression of T-SCE and Stabilization of DNA-PKcs

2010: Telomere Sister Chromatid Exchange and the Process of Aging

2010: SNMIB/Apollo Protects Leading-Strand Telomeres Against NHEJ-Mediated Repair

2010: Hyper Telomere Recombination Accelerates Replicative Senescence and May Promote Premature Aging

2007: Telomeres and DNA Double Strand Breaks

2007: Telomere Lengthening Early in Development

Structural Variant Detection

2019: Loss of DPP6 in Neurodegenerative Dementia: A Genetic Player in the Dysfunction of Neuronal Excitability

2019: Directional Genomic Hybridization (dGH) for Detection of Intrachromosomal Rearrangements

2017: Chromosomal and Telomeric Biomarkers of Normal Tissue Injury to Evaluate Risk of Degenerative Health Effects (Secondary Malignancy, Cardiovascular Disease) Post Radiation Therapy

2017: Telomeres and NextGen CO-FISH: Directional Genomic Hybridization (Telo-dGH™)

2014: Directional Genomic Hybridization: Inversions as a Potential Biodosimeter for Retrospective Radiation Exposure.

2013: Directional Genomic Hybridization for Chromosomal Inversion Discovery and Detection

2011: CO-FISH, COD-FISH, ReD-FISH, SKY-FISH

2010: Chromosome Orientation Fluorescence In Situ Hybridization or Strand-Specific FISH.

Clinical Relevance of Structural Variants

Supporting research from others which underscores the importance of structural variants within a clinical context

Catalog of gene fusions involved in solid tumors and leukemias resulting from chromosomal rearrangements

2019: Multi-Platform Discovery of Haplotype Resolved Structural Variation in Human Genomes

2019: Comprehensive Evaluation of Structural Variation Detection Algorithms for Whole Genome Sequencing

2019: Loss of DPP6 in Neurodegenerative Dementia: A Genetic Player in the Dysfunction of Neuronal Excitability

2019: Complex Karyotype in De Novo Acute Myeloid Leukemia: Typical and Atypical Subtypes Differ Molecularly and Clinically

2016: Landscape of Somatic Mutations in 560 Breast Cancer Whole-Genome Sequences

2016: Frequency and Complexity of De Novo Structural Mutation in Autism

2013: Phenotypic Impact of Genomic Structural Variation: Insights from and for Human Disease

2011: Genome Structural Variation Discovery and Genotyping

2010: Structural Variation in the Human Genome and its Role in Disease

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