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  1. Article ; Online: Response to Metcalfe et al.

    Dimmock, David P

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

    2017  Volume 20, Issue 9, Page(s) 1093

    Language English
    Publishing date 2017-12-14
    Publishing country United States
    Document type Letter ; Comment
    ZDB-ID 1455352-1
    ISSN 1530-0366 ; 1098-3600
    ISSN (online) 1530-0366
    ISSN 1098-3600
    DOI 10.1038/gim.2017.208
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  2. Article ; Online: Should we implement population screening for fragile X?

    Dimmock, David P

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

    2017  Volume 19, Issue 12, Page(s) 1295–1299

    MeSH term(s) Fragile X Syndrome/genetics ; Genetic Testing
    Language English
    Publishing date 2017-08-03
    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.2017.81
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  3. Article ; Online: Better and faster is cheaper.

    Sanford Kobayashi, Erica F / Dimmock, David P

    Human mutation

    2022  Volume 43, Issue 11, Page(s) 1495–1506

    Abstract: The rapid pace of advancement in genomic sequencing technology has recently reached a new milestone, with a record-setting time to molecular diagnosis of a mere 8 h. The catalyst behind this achievement is the accumulation of evidence indicating that ... ...

    Abstract The rapid pace of advancement in genomic sequencing technology has recently reached a new milestone, with a record-setting time to molecular diagnosis of a mere 8 h. The catalyst behind this achievement is the accumulation of evidence indicating that quicker results more often make an impact on patient care and lead to healthcare cost savings. Herein, we review the diagnostic and clinical utility of rapid whole genome and rapid whole exome sequencing, the associated reduction in healthcare costs, and the relationship between these outcome measures and time-to-diagnosis.
    MeSH term(s) Chromosome Mapping ; Genetic Testing/methods ; Humans ; Whole Exome Sequencing/methods
    Language English
    Publishing date 2022-06-27
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 1126646-6
    ISSN 1098-1004 ; 1059-7794
    ISSN (online) 1098-1004
    ISSN 1059-7794
    DOI 10.1002/humu.24422
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  4. Article ; Online: Should states adopt newborn screening for early infantile Krabbe disease?

    Dimmock, David P

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

    2016  Volume 18, Issue 3, Page(s) 217–220

    Abstract: The published experience to date regarding implementing NBS for EIKD has been dramatically enhanced by the data presented in this issue by Orsini et al. Although much has been written about the potential harms to individuals with an abnormal NBS for EIKD ...

    Abstract The published experience to date regarding implementing NBS for EIKD has been dramatically enhanced by the data presented in this issue by Orsini et al. Although much has been written about the potential harms to individuals with an abnormal NBS for EIKD who do not have EIKD, several commentators have also asked whether screening provides a benefit when it leads to early identification of the disorder. Orsini and colleagues’ data suggest that the state-mandated, multimillion-dollar NBS program for EIKD in New York has failed to provide significant benefit to children with EIKD. Indeed, in addition to the potential harm to families receiving false-positive test results, NBS for EIKD appears to have resulted in a reduction in survival in individuals who have the disease. The data from the New York program suggest that NBS for EIKD should be abandoned, pending the development of improved screening or therapies shown to confer both survival and quality-of-life benefits over supportive care. The results of this experience suggest that research efforts should be focused on improving presymptomatic treatment outcomes in children identified by NBS prior to the redeployment of mandatory presymptomatic screening.
    MeSH term(s) Humans ; Infant, Newborn ; Leukodystrophy, Globoid Cell ; Neonatal Screening ; New York ; Research ; Treatment Outcome
    Language English
    Publishing date 2016-02-04
    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.2016.6
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  5. Article: Genomic sequencing has a high diagnostic yield in children with congenital anomalies of the heart and urinary system.

    Allred, Erika T / Perens, Elliot A / Coufal, Nicole G / Sanford Kobayashi, Erica / Kingsmore, Stephen F / Dimmock, David P

    Frontiers in pediatrics

    2023  Volume 11, Page(s) 1157630

    Abstract: Background: Congenital heart defects (CHD) and congenital anomalies of the kidney and urinary tract (CAKUT) account for significant morbidity and mortality in childhood. Dozens of monogenic causes of anomalies in each organ system have been identified. ... ...

    Abstract Background: Congenital heart defects (CHD) and congenital anomalies of the kidney and urinary tract (CAKUT) account for significant morbidity and mortality in childhood. Dozens of monogenic causes of anomalies in each organ system have been identified. However, even though 30% of CHD patients also have a CAKUT and both organs arise from the lateral mesoderm, there is sparse overlap of the genes implicated in the congenital anomalies for these organ systems. We sought to determine whether patients with both CAKUT and CHD have a monogenic etiology, with the long-term goal of guiding future diagnostic work up and improving outcomes.
    Methods: Retrospective review of electronic medical records (EMR), identifying patients admitted to Rady Children's Hospital between January 2015 and July 2020 with both CAKUT and CHD who underwent either whole exome sequencing (WES) or whole genome sequencing (WGS). Data collected included demographics, presenting phenotype, genetic results, and mother's pregnancy history. WGS data was reanalyzed with a specific focus on the CAKUT and CHD phenotype. Genetic results were reviewed to identify causative, candidate, and novel genes for the CAKUT and CHD phenotype. Associated additional structural malformations were identified and categorized.
    Results: Thirty-two patients were identified. Eight patients had causative variants for the CAKUT/CHD phenotype, three patients had candidate variants, and three patients had potential novel variants. Five patients had variants in genes not associated with the CAKUT/CHD phenotype, and 13 patients had no variant identified. Of these, eight patients were identified as having possible alternative causes for their CHD/CAKUT phenotype. Eighty-eight percent of all CAKUT/CHD patients had at least one additional organ system with a structural malformation.
    Conclusions: Overall, our study demonstrated a high rate of monogenic etiologies in hospitalized patients with both CHD and CAKUT, with a diagnostic rate of 44%. Thus, physicians should have a high suspicion for genetic disease in this population. Together, these data provide valuable information on how to approach acutely ill patients with CAKUT and CHD, including guiding diagnostic work up for associated phenotypes, as well as novel insights into the genetics of CAKUT and CHD overlap syndromes in hospitalized children.
    Language English
    Publishing date 2023-03-14
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2711999-3
    ISSN 2296-2360
    ISSN 2296-2360
    DOI 10.3389/fped.2023.1157630
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  6. Article ; Online: Presentation and Diagnostic Evaluation of Mitochondrial Disease.

    Dimmock, David P / Lawlor, Michael W

    Pediatric clinics of North America

    2016  Volume 64, Issue 1, Page(s) 161–171

    Abstract: Mitochondrial disease (MD) occurs when alteration of mitochondrial respiratory chain complex function caused by genetic mutation produces a detectable disease state. These mutations may be found in either the nuclear or mitochondrial genomes, and may ... ...

    Abstract Mitochondrial disease (MD) occurs when alteration of mitochondrial respiratory chain complex function caused by genetic mutation produces a detectable disease state. These mutations may be found in either the nuclear or mitochondrial genomes, and may only be present in a subset of cells or body tissues. Thus, the phenotype of MD is extremely variable and the definitive diagnosis of MD is complex. This article provides a brief description of a strategy used in the diagnosis of MD, by integrating data from clinical, imaging, pathologic, molecular, and enzymatic assessments. Additional information on characteristic findings seen in classic MD syndromes is also provided.
    MeSH term(s) Biomarkers/analysis ; Child ; Diagnosis, Differential ; Genome, Human ; Humans ; Mitochondrial Diseases/diagnosis ; Mitochondrial Diseases/genetics ; Mutation ; Phenotype ; Rare Diseases/diagnosis ; Rare Diseases/genetics ; Syndrome
    Chemical Substances Biomarkers
    Language English
    Publishing date 2016-11-29
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 215711-1
    ISSN 1557-8240 ; 0031-3955
    ISSN (online) 1557-8240
    ISSN 0031-3955
    DOI 10.1016/j.pcl.2016.08.011
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  7. Article ; Online: Correction to: The evolution of the mitochondrial disease diagnostic odyssey.

    Thompson, John L P / Karaa, Amel / Pham, Hung / Yeske, Philip / Krischer, Jeffrey / Xiao, Yi / Long, Yuelin / Kramer, Amanda / Dimmock, David / Holbert, Amy / Gorski, Cliff / Engelstad, Kristin M / Buchsbaum, Richard / Rosales, Xiomara Q / Hirano, Michio

    Orphanet journal of rare diseases

    2023  Volume 18, Issue 1, Page(s) 194

    Language English
    Publishing date 2023-07-20
    Publishing country England
    Document type Published Erratum
    ZDB-ID 2225857-7
    ISSN 1750-1172 ; 1750-1172
    ISSN (online) 1750-1172
    ISSN 1750-1172
    DOI 10.1186/s13023-023-02832-0
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  8. Article: Healthcare Professionals' Attitudes toward Rapid Whole Genome Sequencing in Pediatric Acute Care.

    Franck, Linda S / Scheurer-Monaghan, Andrea / Bupp, Caleb P / Fakhoury, Joseph D / Hoffmann, Thomas J / Deshpandey, Manasi / Arenchild, Madison / Dimmock, David P

    Children (Basel, Switzerland)

    2022  Volume 9, Issue 3

    Abstract: We aimed to characterize knowledge and attitudes about rapid whole genome sequencing (rWGS) implementation of a broad constituency of healthcare professionals at hospitals participating in a statewide initiative to implement rWGS for hospitalized ... ...

    Abstract We aimed to characterize knowledge and attitudes about rapid whole genome sequencing (rWGS) implementation of a broad constituency of healthcare professionals at hospitals participating in a statewide initiative to implement rWGS for hospitalized neonates and children up to 18 years of age meeting clinical criteria for testing. We surveyed 307 healthcare professionals from eight hospitals about their knowledge and attitudes regarding rWGS. We examined survey internal reliability using exploratory factor analysis and associations between respondent characteristics and attitudes toward rWGS with linear regression. We thematically analyzed free-text responses. Views about rWGS implementation in respondents' own setting and respondents' personal capability to implement rWGS were generally neutral (M = 3.44 (SD = 0.74); M = 3.30 (SD = 0.85), respectively). Views about the potential for rWGS in clinical practice were overall positive (M = 4.12 (SD = 0.57)). The degree of positivity of attitudes about rWGS was strongly influenced by perceived knowledge, clinical or non-clinical role, concerns about future insurance coverage for rWGS as a first-tier test, and future adverse impact of genomics health information on patients or families. We identified several actionable factors influencing attitudes toward rWGS of pediatric healthcare professionals. Expanded education and ongoing implementation research are needed for the full potential of rWGS in pediatrics to be realized.
    Language English
    Publishing date 2022-03-04
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2732685-8
    ISSN 2227-9067
    ISSN 2227-9067
    DOI 10.3390/children9030357
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  9. Article ; Online: Ethical issues in DNA sequencing in the neonate.

    Dimmock, David P / Bick, David P

    Clinics in perinatology

    2014  Volume 41, Issue 4, Page(s) 993–1000

    Abstract: With the recognition of genetic disorders in the newborn, there is the potential to offer new lifesaving therapies. For other conditions such as hypothyroidism in Down syndrome or hypercalemia in the 22q11 microdeltion syndrome, the early identification ... ...

    Abstract With the recognition of genetic disorders in the newborn, there is the potential to offer new lifesaving therapies. For other conditions such as hypothyroidism in Down syndrome or hypercalemia in the 22q11 microdeltion syndrome, the early identification of an untreatable condition permits prompt screening for potential comorbid conditions. DNA testing for disorders and DNA-based screening are rapidly evolving. With new more powerful tests, there is an increasing ability to see into a potential future and change the outcome for newborns. However, there remain significant ethical and structural issues to be considered before routine implementation of DNA testing.
    MeSH term(s) Abnormalities, Multiple/genetics ; Chromosome Disorders/diagnosis ; Chromosome Disorders/genetics ; Early Diagnosis ; Early Medical Intervention ; Humans ; Infant, Newborn ; Neonatal Screening/ethics ; Sequence Analysis, DNA/ethics ; Severe Combined Immunodeficiency/diagnosis ; Severe Combined Immunodeficiency/genetics
    Language English
    Publishing date 2014-12
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 193116-7
    ISSN 1557-9840 ; 0095-5108
    ISSN (online) 1557-9840
    ISSN 0095-5108
    DOI 10.1016/j.clp.2014.08.016
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  10. Article ; Online: Immune Responses and Immunosuppressive Strategies for Adeno-Associated Virus-Based Gene Therapy for Treatment of Central Nervous System Disorders: Current Knowledge and Approaches.

    Prasad, Suyash / Dimmock, David P / Greenberg, Benjamin / Walia, Jagdeep S / Sadhu, Chanchal / Tavakkoli, Fatemeh / Lipshutz, Gerald S

    Human gene therapy

    2022  Volume 33, Issue 23-24, Page(s) 1228–1245

    Abstract: Adeno-associated viruses (AAVs) are being increasingly used as gene therapy vectors in clinical studies especially targeting central nervous system (CNS) disorders. Correspondingly, host immune responses to the AAV capsid or the transgene-encoded protein ...

    Abstract Adeno-associated viruses (AAVs) are being increasingly used as gene therapy vectors in clinical studies especially targeting central nervous system (CNS) disorders. Correspondingly, host immune responses to the AAV capsid or the transgene-encoded protein have been observed in various clinical and preclinical studies. Such immune responses may adversely impact patients' health, prevent viral transduction, prevent repeated dosing strategies, eliminate transduced cells, and pose a significant barrier to the potential effectiveness of AAV gene therapy. Consequently, multiple immunomodulatory strategies have been used in attempts to limit immune-mediated responses to the vector, enable readministration of AAV gene therapy, prevent end-organ toxicity, and increase the duration of transgene-encoded protein expression. Herein we review the innate and adaptive immune responses that may occur during CNS-targeted AAV gene therapy as well as host- and treatment-specific factors that could impact the immune response. We also summarize the available preclinical and clinical data on immune responses specifically to CNS-targeted AAV gene therapy and discuss potential strategies for incorporating prophylactic immunosuppression regimens to circumvent adverse immune responses.
    Language English
    Publishing date 2022-11-01
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 1028152-6
    ISSN 1557-7422 ; 1043-0342
    ISSN (online) 1557-7422
    ISSN 1043-0342
    DOI 10.1089/hum.2022.138
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