Barbara R. DuPont

Greenwood Genetic Center — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

34h-index5.5kcitations172works4.42yr avg
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Research Topics

Genomic variations and chromosomal abnormalities(79), Prenatal Screening and Diagnostics(32), Genetics and Neurodevelopmental Disorders(28), Genomics and Rare Diseases(26), Chromosomal and Genetic Variations(22)

Publications172 total

DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective
European Journal of Human Genetics·2025· 1 citedOpen Access
Characterization of Constitutional Ring Chromosomes over 37 Years of Experience at a Single-Site Institution
Genes·2025· 1 citedOpen Access
Optical genome mapping identifies rare structural variants in neural tube defects
Genome Research·2025· 4 citedOpen Access
Loss of Function <i>SPTAN1</i> Variants Result in Ataxia and Intellectual Disability
Clinical Genetics·2025Open Access
P689: A multi-site study of constitutional ring chromosomes from 14 cytogenetics laboratories in the United States
Genetics in Medicine Open·2025Open Access
6: Exon-level copy-number variants: The penultimate frontier in copy-number analysis?
Genetics in Medicine Open·2025Open Access
15: A search for genetic determinants in neural tube defects using optical genome mapping
Genetics in Medicine Open·2025Open Access
Optical Genome Mapping data from a Cohort of Neural Tube Defect Patients
2024
LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorder
Human Genetics and Genomics Advances·2024· 5 citedOpen Access
Multisite Evaluation and Validation of Optical Genome Mapping for Prenatal Genetic Testing
Journal of Molecular Diagnostics·2024· 8 citedOpen Access
Table of Contents
Genetics in Medicine·2024
Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases
Genetics in Medicine·2024· 55 citedOpen Access
Optical Genome Mapping improves detection and streamlines analysis of structural variants in myeloid neoplasms
2024· 1 citedOpen Access
Diagnostic Methods for Ring Chromosomes
2024
P727: Rare disease diagnostics using RNA-Seq: How an investigational transcriptomic test helped conclude a 12-Year diagnostic odyssey
Genetics in Medicine Open·2024Open Access
Ring Chromosome Y
2024
Ring Chromosome X
2024
Progress Update for the Multisite Optical Genome Mapping Evaluation and Validation Study: Prenatal Applications
2023Open Access
H. Eldon Sutton, PhD (1927–2023): A long and full life
The American Journal of Human Genetics·2023Open Access
47. Optical genome mapping in hematological malignancy: Clinical outcomes in a 2-year follow-up retrospective study
Cancer Genetics·2023
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Frequent Co-authors

Charles E. Schwartz(14), Roger E. Stevenson(11), Robin J. Leach(9), Michael J. Friez(9), Jennifer Kerkhof(8), Bekim Sadiković(8), Michael A. Levy(7), Matthew L. Tedder(7), Alka Dwivedi(7), Mariëlle Alders(6), Marcel M. A. M. Mannens(6), Peter Henneman(6), Jennifer A. Lee(6), Steven A. Skinner(6), Luigi Boccuto(6), Sydney Ladd(5), Anand K. Srivastava(5), Tuğçe B. Balcı(5), Victoria Mok Siu(5), Raymond J. Louie(5)