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Barbara R. DuPont

Jackson Laboratory ·
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Area of research
Genetics · Pediatrics, Perinatology and Child Health
Research interest
Research focused on DNA methylation and Genetics, with related work in Microarray, Epigenetics, Genome. Notable publications include 'Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders', 'Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders', and 'Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases'.
h-index
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citations
387
works
7
NIH funding
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primary concept
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email
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Recent publications

Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases
Genetics in Medicine 2024cited by 63position: middledoi
Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders
Human Mutation 2022cited by 79position: middledoi
Optical Genome Mapping and Single Nucleotide Polymorphism Microarray: An Integrated Approach for Investigating Products of Conception
Genes 2022cited by 3position: middledoi
Optical Genome Mapping And Single Nucleotide Polymorphism Microarray: An Integrated Approach For Investigating Challenging Cases Of Products Of Conception
medRxiv 2022cited by 1position: middledoi
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders
Human Genetics and Genomics Advances 2021cited by 155position: middledoi
Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type
Journal of Medical Genetics 2015cited by 32position: middledoi
19q13.32 microdeletion syndrome: Three new cases
European Journal of Medical Genetics 2014cited by 54position: middledoi

Grants

No grants ingested yet.

Frequent collaborators

— · 2 papers (2022–2022)— · 2 papers (2022–2022)Alka Chaubey · Jackson Laboratory2 papers (2022–2022)— · 2 papers (2022–2022)Alex Hastie · University of Washington2 papers (2022–2022)— · 2 papers (2022–2022)— · 2 papers (2022–2022)Ravindra Kolhe · Jackson Laboratory2 papers (2022–2022)— · 2 papers (2022–2022)— · 2 papers (2022–2022)Ashis K. Mondal · Wake Forest University2 papers (2022–2022)— · 2 papers (2022–2022)Amanda Weissman · Wake Forest University2 papers (2022–2022)Chetan Pundkar · Walter Reed Army Institute of Research2 papers (2022–2022)Colin Williams · University of Georgia2 papers (2022–2022)— · 2 papers (2022–2022)Alka Dwivedi · Center for Cancer Research1 papers (2015–2015)— · 1 papers (2015–2015)Ravi Savarirayan · Royal Children's Hospital1 papers (2015–2015)Michael J. Lyons · Greenwood Genetic Center1 papers (2015–2015)
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