277 results on '"DuPont, Barbara R."'
Search Results
2. Ring Chromosome X
3. Diagnostic Methods for Ring Chromosomes
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
6. 17q25.3 copy number changes: association with neurodevelopmental disorders and cardiac malformation
7. Clinical Validation and Diagnostic Utility of Optical Genome Mapping in Prenatal Diagnostic Testing
8. Autistic Disorder: A 20 Year Chronicle
9. Paternal UPD14 with sSMC derived from chromosome 14 in Kagami–Ogata syndrome
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
12. Neurofibromatosis type 2 in Phelan-McDermid syndrome: Institutional experience and review of the literature
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
15. Copy neutral absence of heterozygosity on chromosome 15 distal long arm: A surrogate marker for Prader–Willi/Angelman syndromes?
16. Optical Genome Mapping improves detection and streamlines analysis of structural variants in myeloid neoplasms
17. Clinical findings in individuals with duplication of genes associated with X‐linked intellectual disability
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.
21. Large Chromosome 2p Duplication-Associated Mechanisms and Clinical Presentations
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
24. 17q25.3 copy number changes: association with neurodevelopmental disorders and cardiac malformation
25. Additional file 1 of 17q25.3 copy number changes: association with neurodevelopmental disorders and cardiac malformation
26. Additional file 2 of 17q25.3 copy number changes: association with neurodevelopmental disorders and cardiac malformation
27. 22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan–McDermid syndrome
28. Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders
29. 7. Optical genome mapping for prenatal diagnostic testing
30. 30. The application of DNA methylation episignatures to resolve variants of uncertain clinical significance
31. Clinical Validation and Diagnostic Utility of Optical Genome Mapping in Prenatal Diagnostic Testing
32. H. Eldon Sutton, PhD (1927–2023): A long and full life.
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
36. Multi‐tissue cytogenetic analysis for the diagnosis of mosaic Down syndrome: A case report
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)
39. Clinical and genomic evaluation of 201 patients with Phelan–McDermid syndrome
40. A SOX3 duplication and lumbosacral spina bifida in three generations
41. Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders
42. Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type
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
45. Alterations in CDH15 and KIRREL3 in Patients with Mild to Severe Intellectual Disability
46. Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities
47. Neurodevelopmental delays and macrocephaly in 17p13.1 microduplication syndrome
48. 19. De novo homozygous variant due to uniparental isodisomy results in a recessive disorder
49. 23. Incidental findings on XON array: Our experience over the last two years
50. Clinical utility of the X-chromosome array
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