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  1. Article ; Online: Internet resources in medical genetics.

    Waggoner, Darrel J

    Current protocols in human genetics

    2014  Volume 80, Page(s) Unit 9.12.

    Abstract: This unit presents an overview of the most commonly used Web-based information resources for clinicians seeking to apply molecular or array-based genetic testing to patient care, learn more about newborn screening, or understand the molecular basis of ... ...

    Abstract This unit presents an overview of the most commonly used Web-based information resources for clinicians seeking to apply molecular or array-based genetic testing to patient care, learn more about newborn screening, or understand the molecular basis of inherited diseases. It is also for consumers seeking advocacy or scientific/management information, and for genetics professional societies.
    MeSH term(s) Databases, Nucleic Acid ; Genetic Counseling ; Genetic Testing ; Genetics, Medical ; High-Throughput Nucleotide Sequencing ; Humans ; Information Services ; Internet
    Language English
    Publishing date 2014-01-21
    Publishing country United States
    Document type Journal Article
    ISSN 1934-8258
    ISSN (online) 1934-8258
    DOI 10.1002/0471142905.hg0912s80
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: Mechanisms of disease: epigenesis.

    Waggoner, Darrel

    Seminars in pediatric neurology

    2007  Volume 14, Issue 1, Page(s) 7–14

    Abstract: Genome-wide epigenetic modification plays a pivotal role in regulating gene expression through chromatin structure and stability, tissue-specific and embryonic developmental specific gene regulation, and genomic imprinting. Mechanisms include chromatin ... ...

    Abstract Genome-wide epigenetic modification plays a pivotal role in regulating gene expression through chromatin structure and stability, tissue-specific and embryonic developmental specific gene regulation, and genomic imprinting. Mechanisms include chromatin remodeling through histone modification and DNA methylation, RNA associated gene silencing and chromosome inactivation, and genomic imprinting. These epigenetic mechanisms provide an added layer of transcriptional control of gene expression beyond those associated with variation in the sequence of the DNA. Variation in epigenetic regulation helps explain genetic diversity, but significant changes in epigenetic regulation can produce diseases. Advances in understanding epigenetic mechanisms have been accompanied by new therapeutic options and targets for treatment. This review focuses on a basic understanding of epigenetics and some of the diseases associated with epigenetic alterations.
    MeSH term(s) Animals ; Chromatin Assembly and Disassembly/physiology ; Epigenesis, Genetic/physiology ; Gene Silencing ; Genetic Diseases, Inborn/etiology ; Genomic Imprinting ; Humans ; Models, Biological ; X Chromosome Inactivation
    Language English
    Publishing date 2007-03
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 1290000-x
    ISSN 1558-0776 ; 1071-9091
    ISSN (online) 1558-0776
    ISSN 1071-9091
    DOI 10.1016/j.spen.2006.11.004
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  3. Article ; Online: Novel

    Salguero, Maria V / Chan, Karen / Greeley, Siri Atma W / Dyamenahalli, Umesh / Waggoner, Darrel / Del Gaudio, Daniela / Rajiyah, Tara / Lemelman, Michelle

    Journal of the Endocrine Society

    2022  Volume 6, Issue 4, Page(s) bvac015

    Abstract: Kabuki syndrome (KS) is a multisystem disorder estimated to occur in 1:32 000 newborns. Pathogenic mutations cause the majority but not all cases of KS in ... ...

    Abstract Kabuki syndrome (KS) is a multisystem disorder estimated to occur in 1:32 000 newborns. Pathogenic mutations cause the majority but not all cases of KS in either
    Language English
    Publishing date 2022-02-07
    Publishing country United States
    Document type Case Reports
    ISSN 2472-1972
    ISSN (online) 2472-1972
    DOI 10.1210/jendso/bvac015
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  4. Article ; Online: Professional medical education and genomics.

    Demmer, Laurie A / Waggoner, Darrel J

    Annual review of genomics and human genetics

    2014  Volume 15, Page(s) 507–516

    Abstract: Genomic medicine is a relatively new concept that involves using individual patients' genomic results in their clinical care. Genetic technology has advanced swiftly over the past decade, and most providers have been left behind without an understanding ... ...

    Abstract Genomic medicine is a relatively new concept that involves using individual patients' genomic results in their clinical care. Genetic technology has advanced swiftly over the past decade, and most providers have been left behind without an understanding of this complex field. To realize its full potential, genomic medicine must be both understood and accepted by the greater medical community. The current state of professional medical education in genomics and genomic medicine is reviewed, including ongoing plans to expand educational efforts for medical students, clinical geneticists, and nongeneticist physicians.
    MeSH term(s) Education, Medical ; Genetic Testing ; Genetics, Medical/education ; Genomics/education ; Humans ; Physicians ; Precision Medicine/methods
    Language English
    Publishing date 2014
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 2037670-4
    ISSN 1545-293X ; 1527-8204
    ISSN (online) 1545-293X
    ISSN 1527-8204
    DOI 10.1146/annurev-genom-090413-025522
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  5. Article ; Online: Medical genetics and genomics education: how do we define success? Where do we focus our resources?

    Bennett, Robin L / Waggoner, Darrel / Blitzer, Miriam G

    Genetics in medicine : official journal of the American College of Medical Genetics

    2017  Volume 19, Issue 7, Page(s) 751–753

    MeSH term(s) Curriculum ; Genetics/education ; Genetics, Medical/education ; Genomics/education ; Humans
    Language English
    Publishing date 2017-06-15
    Publishing country United States
    Document type Journal Article ; Comment
    ZDB-ID 1455352-1
    ISSN 1530-0366 ; 1098-3600
    ISSN (online) 1530-0366
    ISSN 1098-3600
    DOI 10.1038/gim.2017.77
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  6. Article ; Online: The relationship between performance on the medical genetics and genomics in-training and certifying examinations.

    Waggoner, Darrel J / O'Donnell, Francis / Ligon, Azra H / Robin, Nathaniel H / McAllister, Kevin T / Blitzer, Miriam G

    Genetics in medicine : official journal of the American College of Medical Genetics

    2021  Volume 24, Issue 1, Page(s) 225–231

    Abstract: Purpose: The American Board of Medical Genetics and Genomics (ABMGG) certifying examinations (CEs) are designed to assess relevant basic knowledge, clinical knowledge, and diagnostic skills of board-eligible candidates in primary specialty areas. The ... ...

    Abstract Purpose: The American Board of Medical Genetics and Genomics (ABMGG) certifying examinations (CEs) are designed to assess relevant basic knowledge, clinical knowledge, and diagnostic skills of board-eligible candidates in primary specialty areas. The ABMGG in-training examinations (ITEs) provide formative feedback regarding knowledge and learning over time and assess readiness to attempt board certification. This study addresses the validity of the ABMGG ITE by evaluating its relationship with performance on CE utilizing established psychometric approaches.
    Methods: Statistical analysis included bivariate Pearson correlation coefficients and linear regression to evaluate the strength of associations between ITE scores and CE scores. Logistic regression was used to assess the association between ITE scores and the probability of passing each CE.
    Results: Logistic regression results indicated that ITE scores accounted for 22% to 44% of the variability in CE outcomes. Across 3 certification cycles, for every 1-point increase in ITE scores, the odds ratio for earning a passing score increased by a factor of 1.12 to 1.20 for the general CE, 1.14 to 1.25 for the clinical CE, and 1.12 to 1.20 for the laboratory CEs.
    Conclusion: The findings show a positive correlation between performance on the ITE examination and performance on and passing the ABMGG CE.
    MeSH term(s) Certification ; Clinical Competence ; Educational Measurement/methods ; Genetics, Medical ; Genomics ; Humans ; Internship and Residency ; United States
    Language English
    Publishing date 2021-11-30
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1455352-1
    ISSN 1530-0366 ; 1098-3600
    ISSN (online) 1530-0366
    ISSN 1098-3600
    DOI 10.1016/j.gim.2021.09.008
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  7. Article ; Online: BATTEN DISEASE CAUSED BY A NOVEL MUTATION IN THE PPT1 GENE.

    Metelitsina, Tatyana I / Waggoner, Darrel J / Grassi, Michael A

    Retinal cases & brief reports

    2016  Volume 10, Issue 3, Page(s) 211–213

    Abstract: Purpose: To report a case of Batten disease due to a previously unreported mutation in PPT1.: Methods: A 9-year-old girl presented with classic clinical findings of Batten Disease.: Results: Genetic testing for the mutations in the most common ... ...

    Abstract Purpose: To report a case of Batten disease due to a previously unreported mutation in PPT1.
    Methods: A 9-year-old girl presented with classic clinical findings of Batten Disease.
    Results: Genetic testing for the mutations in the most common Batten disease gene, CLN3, was negative. Evaluation of a panel of genes known to be implicated in neuronal ceroid lipofuscinoses revealed disease causing mutations in PPT1, one of which was novel.
    Conclusion: Mutations in PPT1 typically cause the infantile form of neuronal ceroid lipofuscinosis. Clinical diagnosis of the juvenile form of neuronal ceroid lipofuscinosis, Batten disease, should still be considered in cases with negative CLN3 genetic testing. Batten disease can occur due to genetic heterogeneity. Testing of other members of the neuronal ceroid lipofuscinosis gene family can lead to confirmation of the correct diagnosis.
    MeSH term(s) Child ; Female ; Genetic Predisposition to Disease ; Humans ; Membrane Proteins/genetics ; Mutation ; Neuronal Ceroid-Lipofuscinoses/genetics
    Chemical Substances Membrane Proteins ; PPT1 protein, human
    Language English
    Publishing date 2016
    Publishing country United States
    Document type Case Reports ; Journal Article
    ISSN 1937-1578
    ISSN (online) 1937-1578
    DOI 10.1097/ICB.0000000000000227
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  8. Article ; Online: Parents: critical stakeholders in expanding newborn screening.

    Ross, Lainie Friedman / Waggoner, Darrel J

    The Journal of pediatrics

    2012  Volume 161, Issue 3, Page(s) 385–389

    MeSH term(s) Glycogen Storage Disease Type II/diagnosis ; Humans ; Illinois ; Infant, Newborn ; Leukodystrophy, Globoid Cell/diagnosis ; Lysosomal Storage Diseases/diagnosis ; Neonatal Screening/organization & administration ; New York ; Parents
    Language English
    Publishing date 2012-09
    Publishing country United States
    Document type Journal Article
    ZDB-ID 3102-1
    ISSN 1097-6833 ; 0022-3476
    ISSN (online) 1097-6833
    ISSN 0022-3476
    DOI 10.1016/j.jpeds.2012.04.035
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  9. Article ; Online: Expanding newborn screening for lysosomal disorders: opportunities and challenges.

    Waggoner, Darrel J / Tan, Christopher A

    Developmental disabilities research reviews

    2011  Volume 17, Issue 1, Page(s) 9–14

    Abstract: Newborn screening (NBS), since its implementation in the 1960s, has traditionally been successful in reducing mortality and disability in children with a range of different conditions. Lysosomal storage disorders (LSD) are a heterogeneous group of ... ...

    Abstract Newborn screening (NBS), since its implementation in the 1960s, has traditionally been successful in reducing mortality and disability in children with a range of different conditions. Lysosomal storage disorders (LSD) are a heterogeneous group of inherited metabolic diseases that result from lysosomal dysfunction. Based on available treatment and suitable screening methods, the LSDs that are considered for NBS generally include Fabry, Gaucher, Krabbe, MPSI, MPSII, MPSV, Metachromatic leukodystrophy, Niemann-Pick, and Pompe. Utilizing traditional and expanded criteria for consideration of NBS leads to a set of fundamental questions that need to be explored when considering the opportunities and challenges of adding LSDs to NBS panels.
    MeSH term(s) Humans ; Infant, Newborn ; Lysosomal Storage Diseases/diagnosis ; Lysosomal Storage Diseases/therapy ; Neonatal Screening/organization & administration
    Language English
    Publishing date 2011
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 2421523-5
    ISSN 1940-5529 ; 1940-5510
    ISSN (online) 1940-5529
    ISSN 1940-5510
    DOI 10.1002/ddrr.132
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  10. Article ; Online: Training the next generation of genomic medicine providers: trends in medical education and national assessment.

    Dasgupta, Shoumita / Feldman, Gerald L / Powell, Cynthia M / Toriello, Helga V / Westman, Judith / Wilson, William G / Waggoner, Darrel J

    Genetics in medicine : official journal of the American College of Medical Genetics

    2020  Volume 22, Issue 10, Page(s) 1718–1722

    Abstract: Purpose: To assess the utilization of genetics on the United States Medical Licensing Examination (USMLE®).: Methods: A team of clinical genetics educators performed an analysis of the representation of genetics content on a robust sample of recent ... ...

    Abstract Purpose: To assess the utilization of genetics on the United States Medical Licensing Examination (USMLE®).
    Methods: A team of clinical genetics educators performed an analysis of the representation of genetics content on a robust sample of recent Step 1, Step 2 Clinical Knowledge (CK), and Step 3 examination forms. The content of each question was mapped to curriculum recommendations from the peer reviewed Association of Professors of Human and Medical Genetics white paper, Medical School Core Curriculum in Genetics, and the USMLE Content Outline.
    Results: The committee identified 13.4%, 10.4%, and 4.4% of Steps 1, 2 and 3 respectively, as having genetics content. The genetics content of the exams became less pertinent to the questions from Step 1 to 3, with decreasing genetics content by exam and increasing percentages of questions identified as having genetics content in the distractors only.
    Conclusion: The current distribution of genetics in USMLE licensing examinations reflects traditional curricular approaches with genetics as a basic science course in the early years of medical school and de-emphasizes clinical relevance of the field. These observations support the notion that further integration is required to move genetics into the clinical curriculum of medical schools and the clinical content of USMLE Step exams.
    MeSH term(s) Clinical Competence ; Curriculum ; Education, Medical ; Education, Medical, Undergraduate ; Educational Measurement ; Genomics ; Humans ; Licensure, Medical ; United States
    Language English
    Publishing date 2020-06-18
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1455352-1
    ISSN 1530-0366 ; 1098-3600
    ISSN (online) 1530-0366
    ISSN 1098-3600
    DOI 10.1038/s41436-020-0855-9
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