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1. Full Text Minimal Residual Disease Testing : Current Innovations and Future Directions
by Druley, Todd E
11/2018, ISBN 9783319948263, 202
This volume provides a concise yet comprehensive overview of minimal residual disease (MRD) testing. The text reviews the history of MRD testing, MRD testing... 
Pathology | Oncology | Medicine & Public Health | Hematology
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2. Full Text Novel Technologies to Detect Minimal Residual Disease
by Druley, Todd E
Blood, ISSN 0006-4971, 12/2016, Volume 128, Issue 22, pp. SCI-31 - SCI-31
Abstract The widespread use of ribonucleic acid (RNA) analysis as a measure of minimal residual disease (MRD) in leukemia has primarily been performed via... 
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3. Full Text Age-specific changes in genome-wide methylation enrich for Foxa2 and estrogen receptor alpha binding sites
by Uli, Nishanth and Michelen-Gomez, Eduardo and Ramos, Enrique I and Druley, Todd E
PLoS ONE, ISSN 1932-6203, 09/2018, Volume 13, Issue 9, p. e0203147
The role of DNA methylation patterns in complex phenotypes remains unclear. To explore this question, we adapted our methods for rare variant analysis to... 
HUMAN COLON | SYSTEM | EPIGENETICS | MEMORY FORMATION | HYPERMETHYLATION | DISEASES | DNA METHYLATION | GENE | MULTIDISCIPLINARY SCIENCES | PATTERNS | CANCER | Epigenetic inheritance | Usage | Demographic aspects | Analysis | Estrogen | Genomes | Mice | Methylation | Brain | Estrogens | Genes | Estrogen receptors | Shores | Biology | Regulatory sequences | Hybridization | Streptococcus infections | DNA methylation | Chromosome 11 | Aging | Bioinformatics | Deoxyribonucleic acid--DNA | Age | CpG islands | Immune system | Spleen | Phenotypes | Manufacturers | Cell division | Loci | Medicine | Cell death | Epigenetics | Prostate | Binding sites | Cancer | Deoxyribonucleic acid | DNA
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4. Full Text Commentary
by Todd E Druley
Clinical Chemistry, ISSN 0009-9147, 01/2013, Volume 59, Issue 1, p. 50
  Because the genetic underpinnings of DC remain incompletely characterized, variants in genes associated with telomere maintenance are often assumed to be... 
Genetic counseling | Bone marrow | Genetics | Chromosomes
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5. Full Text NF1 glioblastoma clonal profiling reveals KMT2B mutations as potential somatic oncogenic events
by Wong, Wing H and Junck, Larry and Druley, Todd E and Gutmann, David H
Neurology, ISSN 0028-3878, 11/2019, p. 10
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6. Full Text Generation, Characterization and Pre-Clinical Drug Evaluation of Patient-Derived Xenograft Models of Pediatric Down Syndrome AML
by Barwe, Sonali and Kolb, E. Anders and Crowgey, Erin Lynn and Druley, Todd E and Gopalakrishnapillai, Anilkumar
Blood, ISSN 0006-4971, 11/2019, Volume 134, Issue Supplement_1, pp. 2683 - 2683
Children with Down syndrome (DS) are at a 500-fold increased risk for developing acute myeloid leukemia (AML) before they reach five years of age. DS-AML... 
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7. Full Text Clonal haematopoiesis and risk of acute myeloid leukemia
by Young, Andrew L and Tong, R Spencer and Birmann, Brenda M and Druley, Todd E
Haematologica, 04/2019
Nearly all adults harbor acute myeloid leukemia-related clonal hematopoietic mutations at a variant allele fraction of ≥0.0001, yet relatively few develop... 
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8. Full Text Clonal hematopoiesis and risk of acute myeloid leukemia
by Young, Andrew L and Tong, R. Spencer and Birmann, Brenda M and Druley, Todd E
Haematologica, ISSN 0390-6078, 12/2019, Volume 104, Issue 12, pp. 2410 - 2417
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9. Full Text Distal chromosome 16p11.2 duplications containing SH2B1 in patients with scoliosis
by Sadler, Brooke and Haller, Gabe and Antunes, Lilian and Bledsoe, Xavier and Morcuende, Jose and Giampietro, Philip and Raggio, Cathleen and Miller, Nancy and Kidane, Yared and Wise, Carol A and Amarillo, Ina and Walton, Nephi and Seeley, Mark and Johnson, Darren and Jenkins, Conner and Jenkins, Troy and Oetjens, Matthew and Tong, R. Spencer and Druley, Todd E and Dobbs, Matthew B and Gurnett, Christina A
Journal of Medical Genetics, ISSN 0022-2593, 2019, Volume 56, Issue 7, pp. 427 - 433
Introduction Adolescent idiopathic scoliosis (AIS) is a common musculoskeletal disorder with strong evidence for a genetic contribution. CNVs play an important... 
copy-number | 16p11.2 | scoliosis | IDIOPATHIC SCOLIOSIS | VARIANTS | 16p11 | TBX6 | GENE | GENETICS & HEREDITY | FRAMEWORK | COMMON | MUTATIONS | COPY NUMBER VARIATION | DELETIONS | GENOME-WIDE ASSOCIATION | copy number variants
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10. Full Text Investigating the Effects of Clonal Hematopoiesis in Healthy Marrow and Blood Donors on the Outcomes of Recipients Following Hematopoietic Stem Cell Transplantation
by Wong, Wing Hing and Elliot, Kevin and Pusic, Iskra and DiPersio, John F and Druley, Todd E
Blood, ISSN 0006-4971, 11/2018, Volume 132, Issue Supplement 1, pp. 2180 - 2180
Abstract Background: Using error-corrected sequencing with a detection limit of 0.0001, Young et al. (2016) found that 95% of healthy individuals harbor... 
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11. Full Text The Clonal Hematopoietic Spectrum of Down Syndrome and ML-DS
by Tong, R. Spencer and Wong, Wing Hing and O'Leary, David R and Jay, Kathleen S and Grange, D. Katherine and Berman, Jason and Hitzler, Johann K and Druley, Todd E
Blood, ISSN 0006-4971, 11/2018, Volume 132, Issue Supplement 1, pp. 3839 - 3839
Abstract Introduction: Children with Down syndrome (DS) have a 150-fold higher risk of developing myeloid leukemia (ML-DS) (Wechsler J, Nat Gen 2002). Ten... 
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12. Full Text Age-specific changes in genome-wide methylation enrich for Foxa2 and estrogen receptor alpha binding sites
by Uli, Nishanth and Michelen-Gomez, Eduardo and Ramos, Enrique I and Druley, Todd E
PloS one, 2018, Volume 13, Issue 9, p. e0203147
The role of DNA methylation patterns in complex phenotypes remains unclear. To explore this question, we adapted our methods for rare variant analysis to... 
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13. Full Text Novel mutation in AIRE gene with autoimmune polyendocrine syndrome type 1
by Fardi Golyan, Fatemeh and Ghaemi, Nosrat and Abbaszadegan, Mohammad Reza and Dehghan Manshadi, Seyed Hossein and Vakili, Rahim and Druley, Todd E and Rahimi, Hamid Reza and Ghahraman, Martha
Immunobiology, ISSN 0171-2985, 11/2019, Volume 224, Issue 6, pp. 728 - 733
Autoimmune polyendocrine type 1 (APS-1) is a complex inherited autosomal recessive disorder. Classically, it appears within the first decade of life followed... 
APS-1 | AIRE gene | Gene mutation | APECED
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14. Full Text Congenital neurodevelopmental anomalies in pediatric and young adult cancer
by Wong‐Siegel, Jeannette R and Johnson, Kimberly J and Gettinger, Katie and Cousins, Nicole and McAmis, Nicole and Zamarione, Ashley and Druley, Todd E
American Journal of Medical Genetics Part A, ISSN 1552-4825, 10/2017, Volume 173, Issue 10, pp. 2670 - 2679
Congenital anomalies that are diagnosed in at least 120,000 US infants every year are the leading cause of infant death and contribute to disability and... 
predisposition | development | cancer | congenital | birth defects | pediatrics | RECORD-LINKAGE | FETAL-GROWTH | BIRTH-DEFECTS | CHILDREN | GENETICS & HEREDITY | POPULATION-BASED COHORT | FUSION PROTEIN | CNS TUMORS | CENTRAL-NERVOUS-SYSTEM | SEX-DIFFERENCES | CHILDHOOD BRAIN-TUMORS | Neurodevelopmental Disorders - epidemiology | Congenital Abnormalities - epidemiology | Prognosis | Humans | Child, Preschool | Neoplasms - mortality | Infant | Male | Survival Rate | Neurodevelopmental Disorders - genetics | Incidence | Young Adult | Neoplasms - complications | Congenital Abnormalities - mortality | Congenital Abnormalities - genetics | Neoplasms - genetics | Adolescent | Neurodevelopmental Disorders - mortality | Adult | Female | Retrospective Studies | Child | Infant, Newborn | Pediatrics | Genetic disorders | Oncology, Experimental | Youth | Teenagers | Research | Cancer | Young adults | Congenital defects | Central nervous system | Population studies | Prenatal development | Infants | Malignancy | Children | Electronic medical records | Tumors | Original
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15. Full Text Clonal haematopoiesis harbouring AML-associated mutations is ubiquitous in healthy adults
by Young, Andrew L and Challen, Grant A and Birmann, Brenda M and Druley, Todd E
Nature Communications, ISSN 2041-1723, 08/2016, Volume 7, Issue 1, p. 12484
Clonal haematopoiesis is thought to be a rare condition that increases in frequency with age and predisposes individuals to haematological malignancy. Recent... 
ORIGIN | EVOLUTION | TET2 MUTATIONS | LANDSCAPE | RARE MUTATIONS | MULTIDISCIPLINARY SCIENCES | FREQUENCY | DNMT3A | PATTERNS | CANCER | Acute Disease | Genetic Predisposition to Disease - genetics | Gene Frequency | Humans | Leukemia, Myeloid - genetics | Middle Aged | Hematopoiesis - genetics | Proto-Oncogene Proteins - genetics | DNA-Binding Proteins - genetics | Clone Cells - metabolism | Genetic Variation | DNA (Cytosine-5-)-Methyltransferases - genetics | Female | Aged | Mutation | High-Throughput Nucleotide Sequencing - methods | Cohort Studies
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16. Full Text A young adult with aplastic anemia and gray hair: Commentary
by Druley, Todd E
Clinical Chemistry, ISSN 0009-9147, 01/2013, Volume 59, Issue 1, pp. 50 - 51
MEDICAL LABORATORY TECHNOLOGY
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17. Full Text Rare event detection using error-corrected DNA and RNA sequencing
by Wong, Wing H and Spencer Tong, R and Young, Andrew L and Druley, Todd E
Journal of Visualized Experiments, ISSN 1940-087X, 08/2018, Volume 2018, Issue 138
Conventional next-generation sequencing techniques (NGS) have allowed for immense genomic characterization for over a decade. Specifically, NGS has been used... 
Molecular tagging | Issue 138 | Error-corrected sequencing | Genomics | Rare event detection | Genetics | Bioinformatics | Early detection | error-corrected sequencing | molecular tagging | QUANTIFICATION | MULTIDISCIPLINARY SCIENCES | ACUTE MYELOID-LEUKEMIA | REPERTOIRES | bioinformatics | DISEASE | genomics | early detection | MUTATIONS | TISSUES
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18. Full Text Characterizing Rare Variants in Drug Metabolism Genes in Refractory Pediatric High-Risk Pre-B ALL
by Hughes, Andrew and Giacalone, Joseph and Druley, Todd E
Blood, ISSN 0006-4971, 11/2012, Volume 120, Issue 21, pp. 879 - 879
Abstract Abstract 879 Introduction: We are working to understand how rare genetic variation can influence incidence and outcomes of pediatric high-risk... 
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19. Full Text Role of TP53 mutations in the origin and evolution of therapy-related acute myeloid leukaemia
by Wong, Terrence N and Ramsingh, Giridharan and Young, Andrew L and Miller, Christopher A and Touma, Waseem and Welch, John S and Lamprecht, Tamara L and Shen, Dong and Hundal, Jasreet and Fulton, Robert S and Heath, Sharon and Baty, Jack D and Klco, Jeffery M and Ding, Li and Mardis, Elaine R and Westervelt, Peter and Dipersio, John F and Walter, Matthew J and Graubert, Timothy A and Ley, Timothy J and Druley, Todd E and Link, Daniel C and Wilson, Richard K
Nature, ISSN 0028-0836, 02/2015, Volume 518, Issue 7540, pp. 552 - 555
Therapy-related acute myeloid leukaemia (t-AML) and therapy-related myelodysplastic syndrome (t-MDS) are well-recognized complications of cytotoxic... 
MULTIDISCIPLINARY SCIENCES | DYNAMICS | CLONAL EVOLUTION | CELL FATE | CANCER | MYELODYSPLASTIC SYNDROMES | P53 | Cell Proliferation | Humans | Hematopoietic Stem Cells - pathology | Cell Lineage - drug effects | Clone Cells | Leukemia, Myeloid, Acute - chemically induced | Cell Lineage - genetics | Hematopoietic Stem Cells - drug effects | Leukemia, Myeloid, Acute - pathology | Hematopoietic Stem Cells - metabolism | Genes, p53 - genetics | Mutation - genetics | Ethylnitrosourea - pharmacology | Drug Resistance, Neoplasm - genetics | Animals | Mutation - drug effects | Hematopoietic Stem Cells - cytology | Alleles | Heterozygote | Mice | Models, Genetic | DNA Damage | Drug Resistance, Neoplasm - drug effects | Evolution, Molecular | Leukemia, Myeloid, Acute - genetics | Chemotherapy | Genes | Leukemia | Cytogenetics | Cytotoxicity | Genomes | Mutation
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20. Full Text Rare Hematopoietic Subclones Harboring Leukemogenic TP53 Mutations Are Detectable Via Error-Corrected Sequencing in Healthy Elderly Individuals
by Young, Andrew and Wong, Terrence Neal and Ley, Timothy J and Link, Daniel C and Druley, Todd E
Blood, ISSN 0006-4971, 12/2014, Volume 124, Issue 21, pp. 2907 - 2907
Abstract Acute myeloid leukemia (AML) is an oligoclonal disease marked by specific somatic genomic alterations. While the leukemia-associated mutations and... 
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