Genome‐wide DNA methylation and RNA analyses enable reclassification of two variants of uncertain significance in a patient with clinical Kabuki syndrome
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Title
Genome‐wide DNA methylation and RNA analyses enable reclassification of two variants of uncertain significance in a patient with clinical Kabuki syndrome
Authors
Keywords
-
Journal
HUMAN MUTATION
Volume -, Issue -, Pages -
Publisher
Wiley
Online
2019-07-03
DOI
10.1002/humu.23833
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Note: Only part of the references are listed.- Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions
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- (2016) Laura M. Amendola et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools
- (2016) Omar Soukarieh et al. PLoS Genetics
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- In silico prediction of splice-altering single nucleotide variants in the human genome
- (2014) Xueqiu Jian et al. NUCLEIC ACIDS RESEARCH
- Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome
- (2011) Damien Lederer et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
- (2010) Sarah B Ng et al. NATURE GENETICS
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