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Title
DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome
Authors
Keywords
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Journal
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
Volume 23, Issue 14, Pages 8001
Publisher
MDPI AG
Online
2022-07-20
DOI
10.3390/ijms23148001
References
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Related references
Note: Only part of the references are listed.- Phenotypic expansion and variable expressivity in individuals with JARID2 ‐related intellectual disability: A case series
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- (2021) Bekim Sadikovic et al. GENETICS IN MEDICINE
- 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
- JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome
- (2020) Eline A. Verberne et al. GENETICS IN MEDICINE
- 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
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- (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
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- (2018) Erfan Aref-Eshghi et al. Nature Communications
- A de novo variant in ADGRL2 suggests a novel mechanism underlying the previously undescribed association of extreme microcephaly with severely reduced sulcation and rhombencephalosynapsis
- (2018) Myriam Vezain et al. Acta Neuropathologica Communications
- The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance
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- Functional significance of rare neuroligin 1 variants found in autism
- (2017) Moe Nakanishi et al. PLoS Genetics
- Clinical Validation of Fragile X Syndrome Screening by DNA Methylation Array
- (2016) Laila C. Schenkel et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- 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
- The Mendelian disorders of the epigenetic machinery
- (2015) Hans Tomas Bjornsson GENOME RESEARCH
- Minfi: a flexible and comprehensive Bioconductor package for the analysis of Infinium DNA methylation microarrays
- (2014) Martin J. Aryee et al. BIOINFORMATICS
- Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability
- (2013) Tuva Barøy et al. Orphanet Journal of Rare Diseases
- DNA methylation arrays as surrogate measures of cell mixture distribution
- (2012) Eugene Houseman et al. BMC BIOINFORMATICS
- Jarid2 (Jumonji, AT Rich Interactive Domain 2) RegulatesNOTCH1Expression via Histone Modification in the Developing Heart
- (2011) Matthew R. Mysliwiec et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Jarid2 and PRC2, partners in regulating gene expression
- (2010) G. Li et al. GENES & DEVELOPMENT
- JARID2 regulates binding of the Polycomb repressive complex 2 to target genes in ES cells
- (2010) Diego Pasini et al. NATURE
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