Genome‐wide <scp>DNA</scp> methylation profiling confirms a case of low‐level mosaic Kabuki syndrome 1-Reference-Cited by-同舟云学术

Genome‐wide DNA methylation profiling confirms a case of low‐level mosaic Kabuki syndrome 1

Published:2022-04-06 Issue:7 Volume:188 Page:2217-2225
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Montano Carolina¹^ORCID,Britton Jacquelyn F.²,Harris Jacqueline R.²³⁴,Kerkhof Jennifer⁵,Barnes Benjamin T.³,Lee Jennifer A.⁶,Sadikovic Bekim⁵⁷^ORCID,Sobreira Nara²³^ORCID,Fahrner Jill A.²³^ORCID

Affiliation:

1. National Human Genome Research Institute National Institutes of Health Bethesda Maryland USA

2. Department of Genetic Medicine Johns Hopkins University School of Medicine Baltimore Maryland USA

3. Department of Pediatrics Johns Hopkins University School of Medicine Baltimore Maryland USA

4. Department of Neurogenetics Kennedy Krieger Institute Baltimore Maryland USA

5. Molecular Genetics Laboratory, Molecular Diagnostics Division London Health Sciences Centre London Ontario Canada

6. Greenwood Genetic Center Greenwood South Carolina USA

7. Department of Pathology and Laboratory Medicine Western University London Ontario Canada

Funder

Hartwell Foundation

National Institute of Child Health and Human Development

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62754

Reference31 articles.

1. Kabuki syndrome: international consensus diagnostic criteria

2. Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions

3. Genome‐wide DNA methylation and RNA analyses enable reclassification of two variants of uncertain significance in a patient with clinical Kabuki syndrome

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

5. Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes

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