BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes
Published 2018 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes
Authors
Keywords
-
Journal
Nature Communications
Volume 9, Issue 1, Pages -
Publisher
Springer Nature America, Inc
Online
2018-11-14
DOI
10.1038/s41467-018-07193-y
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome
- (2018) Georgia Vasileiou et al. AMERICAN JOURNAL OF HUMAN GENETICS
- 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
- DNA methylation markers in combination with skeletal and dental ages to improve age estimation in children
- (2018) Lei Shi et al. Forensic Science International-Genetics
- 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
- Genomic DNA Methylation-Derived Algorithm Enables Accurate Detection of Malignant Prostate Tissues
- (2018) Erfan Aref-Eshghi et al. Frontiers in Oncology
- The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance
- (2017) Erfan Aref-Eshghi et al. Epigenetics
- Validation of copy number variation analysis for next-generation sequencing diagnostics
- (2017) Jamie M Ellingford et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- 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
- Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome
- (2017) Laila C. Schenkel et al. Epigenetics & Chromatin
- Hypomethylation of HOXA4 promoter is common in Silver-Russell syndrome and growth restriction and associates with stature in healthy children
- (2017) Mari Muurinen et al. Scientific Reports
- Clinical features ofSMARCA2duplication overlap with Coffin-Siris syndrome
- (2016) Noriko Miyake et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- 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
- Methylome-wide Analysis of Chronic HIV Infection Reveals Five-Year Increase in Biological Age and Epigenetic Targeting of HLA
- (2016) Andrew M. Gross et al. MOLECULAR CELL
- VarDict: a novel and versatile variant caller for next-generation sequencing in cancer research
- (2016) Zhongwu Lai et al. NUCLEIC ACIDS RESEARCH
- Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy
- (2016) Kristin D. Kernohan et al. Clinical Epigenetics
- 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
- Genome-wide methylation analysis in Silver–Russell syndrome patients
- (2015) A. R. Prickett et al. HUMAN GENETICS
- Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes
- (2015) Nuria C. Bramswig et al. HUMAN GENETICS
- limma powers differential expression analyses for RNA-sequencing and microarray studies
- (2015) Matthew E. Ritchie et al. NUCLEIC ACIDS RESEARCH
- TheARID1Bphenotype: What we have learned so far
- (2014) Gijs W.E. Santen et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
- Minfi: a flexible and comprehensive Bioconductor package for the analysis of Infinium DNA methylation microarrays
- (2014) Martin J. Aryee et al. BIOINFORMATICS
- MutationTaster2: mutation prediction for the deep-sequencing age
- (2014) Jana Marie Schwarz et al. NATURE METHODS
- De novo SOX11 mutations cause Coffin–Siris syndrome
- (2014) Yoshinori Tsurusaki et al. Nature Communications
- Coffin-Siris syndrome is a SWI/SNF complex disorder
- (2013) Y. Tsurusaki et al. CLINICAL GENETICS
- A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling
- (2013) Dagmar Wieczorek et al. HUMAN MOLECULAR GENETICS
- A robust model for read count data in exome sequencing experiments and implications for copy number variant calling
- (2012) Vincent Plagnol et al. BIOINFORMATICS
- DNA methylation arrays as surrogate measures of cell mixture distribution
- (2012) Eugene Houseman et al. BMC BIOINFORMATICS
- SWI/SNF complex in disorder
- (2012) Gijs W.E. Santen et al. Epigenetics
- Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome
- (2012) Jeroen K J Van Houdt et al. NATURE GENETICS
- Differential DNA Methylation in Purified Human Blood Cells: Implications for Cell Lineage and Studies on Disease Susceptibility
- (2012) Lovisa E. Reinius et al. PLoS One
- REVIGO Summarizes and Visualizes Long Lists of Gene Ontology Terms
- (2011) Fran Supek et al. PLoS One
- ConsensusClusterPlus: a class discovery tool with confidence assessments and item tracking
- (2010) Matthew D. Wilkerson et al. BIOINFORMATICS
- Nicolaides-Baraitser syndrome: Delineation of the phenotype
- (2009) Sérgio B. Sousa et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Linking DNA methylation and histone modification: patterns and paradigms
- (2009) Howard Cedar et al. NATURE REVIEWS GENETICS
- An embryonic stem cell chromatin remodeling complex, esBAF, is an essential component of the core pluripotency transcriptional network
- (2009) L. Ho et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Interstitial deletion of 6q25.2–q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss
- (2008) Sandesh Chakravarthy Sreenath Nagamani et al. EUROPEAN JOURNAL OF HUMAN GENETICS
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreDiscover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversation