BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes
出版年份 2018 全文链接
标题
BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes
作者
关键词
-
出版物
Nature Communications
Volume 9, Issue 1, Pages -
出版商
Springer Nature America, Inc
发表日期
2018-11-14
DOI
10.1038/s41467-018-07193-y
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- 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
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