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38 results on '"Tedder, Matthew L."'

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1. Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement

2. The detection of a strong episignature for Chung–Jansen syndrome, partially overlapping with Börjeson–Forssman–Lehmann and White–Kernohan syndromes

3. Identification of a DNA methylation episignature for recurrent constellations of embryonic malformations

4. Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome

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

7. Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome, caused by variants in the CTCF gene

8. DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency

9. Recurrent carotid paragangliomas in a syndromic patient with a heterozygous missense variant in DNA Methyltransferase 3 Alpha.

10. Blepharophimosis with intellectual disability and Helsmoortel‐Van Der Aa Syndrome share episignature and phenotype.

11. DNA methylation episignature in Gabriele-de Vries syndrome

12. Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711

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

14. The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8

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

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

17. The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes

18. Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome

19. DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants

20. Episignature Mapping of TRIP12 Provides Functional Insight into Clark–Baraitser Syndrome

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

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

24. The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8

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

26. 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)

27. Near complete deletion ofKMT2Din a college student

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

30. Near complete deletion of KMT2D in a college student.

31. Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses.

33. Correction: Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711

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

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

36. Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature.

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

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