Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders
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Title
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders
Authors
Keywords
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Journal
GENETICS IN MEDICINE
Volume -, Issue -, Pages -
Publisher
Springer Science and Business Media LLC
Online
2021-02-05
DOI
10.1038/s41436-020-01096-4
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Note: Only part of the references are listed.- Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders
- (2020) Erfan Aref-Eshghi et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature
- (2020) Andrea Ciolfi et al. Clinical Epigenetics
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- (2020) Sanaa Choufani et al. AMERICAN JOURNAL OF HUMAN GENETICS
- De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome
- (2020) Gerarda Cappuccio et al. GENETICS IN MEDICINE
- Functional annotation of genomic variation: DNA methylation episignatures in neurodevelopmental Mendelian disorders
- (2020) Bekim Sadikovic et al. HUMAN MOLECULAR GENETICS
- Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions
- (2019) Erfan Aref-Eshghi et al. AMERICAN JOURNAL OF HUMAN GENETICS
- DNA methylation signatures in mendelian developmental disorders as a diagnostic bridge between genotype and phenotype
- (2019) Bekim Sadikovic et al. Epigenomics
- Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome
- (2019) Eric G. Bend et al. Clinical Epigenetics
- Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders
- (2019) Siddharth Srivastava et al. GENETICS IN MEDICINE
- Genome‐wide DNA methylation and RNA analyses enable reclassification of two variants of uncertain significance in a patient with clinical Kabuki syndrome
- (2019) Erfan Aref‐Eshghi et al. HUMAN MUTATION
- Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database
- (2019) Stéphanie Nguengang Wakap et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- A genome-wide DNA methylation signature for SETD1B-related syndrome
- (2019) I. M. Krzyzewska et al. Clinical Epigenetics
- Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework
- (2019) Sarah E. Brnich et al. Genome Medicine
- Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes
- (2018) Erfan Aref-Eshghi et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature
- (2018) Katharina Schwarze et al. GENETICS IN MEDICINE
- Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in KDM5C
- (2018) Laila C. Schenkel et al. Clinical Epigenetics
- BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes
- (2018) Erfan Aref-Eshghi et al. Nature Communications
- Clinical Validation of a Genome-Wide DNA Methylation Assay for Molecular Diagnosis of Imprinting Disorders
- (2017) Erfan Aref-Eshghi et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- DNA methylation analysis in constitutional disorders: Clinical implications of the epigenome
- (2016) Laila C. Schenkel et al. CRITICAL REVIEWS IN CLINICAL LABORATORY SCIENCES
- Clinical Validation of Fragile X Syndrome Screening by DNA Methylation Array
- (2016) Laila C. Schenkel et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic
- (2016) Konstantinos N. Lazaridis et al. MAYO CLINIC PROCEEDINGS
- Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy
- (2016) Kristin D. Kernohan et al. Clinical Epigenetics
- The defining DNA methylation signature of Floating-Harbor Syndrome
- (2016) Rebecca L. Hood et al. Scientific Reports
- 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
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- (2015) Gregory M. Cooper GENOME RESEARCH
- Function and information content of DNA methylation
- (2015) Dirk Schübeler NATURE
- NSD1 mutations generate a genome-wide DNA methylation signature
- (2015) S. Choufani et al. Nature Communications
- ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013
- (2013) Sarah T. South et al. GENETICS IN MEDICINE
- Non-invasive prenatal testing for aneuploidy: current status and future prospects
- (2013) P. Benn et al. ULTRASOUND IN OBSTETRICS & GYNECOLOGY
- DNA methylation age of human tissues and cell types
- (2013) Steve Horvath GENOME BIOLOGY
- Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
- (2010) David T. Miller et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Aging and Environmental Exposures Alter Tissue-Specific DNA Methylation Dependent upon CpG Island Context
- (2009) Brock C. Christensen et al. PLoS Genetics
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