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4. LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorder

5. Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases

8. Autistic Disorder: A 20 Year Chronicle

10. Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

11. Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders

13. Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

14. Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases

16. Optical Genome Mapping improves detection and streamlines analysis of structural variants in myeloid neoplasms

18. Optical Genome Mapping: Integrating Structural Variations for Precise Homologous Recombination Deficiency Score Calculation

19. The smallest likely pathogenic duplication of a SOX9 enhancer identified to date in a family with 46,XX testicular differences of sex development

20. Clinical findings in individuals with duplication of genes associated with X‐linked intellectual disability.

22. Clinical Utility of Optical Genome Mapping and 523-Gene Next Generation Sequencing Panel for Comprehensive Evaluation of Myeloid Cancers

23. Sleep disturbances in Phelan‐McDermid syndrome: Clinical and metabolic profiling of 56 individuals

28. Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders

33. Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders

34. Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders

35. Optical Genome Mapping and Single Nucleotide Polymorphism Microarray: An Integrated Approach for Investigating Products of Conception

37. Optical Genome Mapping And Single Nucleotide Polymorphism Microarray: An Integrated Approach For Investigating Challenging Cases Of Products Of Conception.

38. Correction: Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders (Genetics in Medicine, (2021), 23, 6, (1065-1074), 10.1038/s41436-020-01096-4)

41. Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

43. Erratum: Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders (The American Journal of Human Genetics (2020) 106(3) (356–370), (S0002929720300197), (10.1016/j.ajhg.2020.01.019))

44. Identification of a DNA Methylation Episignature in the 22q11.2 Deletion Syndrome

50. Clinical utility of the X-chromosome array

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