Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in KDM5C

[1]  Hanxin Lin,et al.  Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes. , 2018, American journal of human genetics.

[2]  C. Skinner,et al.  The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance , 2017, Epigenetics.

[3]  C. Skinner,et al.  Clinical Validation of a Genome-Wide DNA Methylation Assay for Molecular Diagnosis of Imprinting Disorders. , 2017, The Journal of molecular diagnostics : JMD.

[4]  Andrei L. Turinsky,et al.  CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions , 2017, American journal of human genetics.

[5]  C. Skinner,et al.  Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome , 2017, Epigenetics & Chromatin.

[6]  V. Siu,et al.  Constitutional Epi/Genetic Conditions: Genetic, Epigenetic, and Environmental Factors , 2016, Journal of Pediatric Genetics.

[7]  G. Paré,et al.  The defining DNA methylation signature of Floating-Harbor Syndrome , 2016, Scientific Reports.

[8]  C. Skinner,et al.  Clinical Validation of Fragile X Syndrome Screening by DNA Methylation Array. , 2016, The Journal of molecular diagnostics : JMD.

[9]  G. Paré,et al.  Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy , 2016, Clinical Epigenetics.

[10]  G. Paré,et al.  DNA methylation analysis in constitutional disorders: Clinical implications of the epigenome , 2016, Critical reviews in clinical laboratory sciences.

[11]  A L Turinsky,et al.  NSD1 mutations generate a genome-wide DNA methylation signature , 2015, Nature Communications.

[12]  Lukas Burger,et al.  Genomic profiling of DNA methyltransferases reveals a role for DNMT3B in genic methylation , 2015, Nature.

[13]  Matthew E. Ritchie,et al.  limma powers differential expression analyses for RNA-sequencing and microarray studies , 2015, Nucleic acids research.

[14]  Bale,et al.  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, Genetics in Medicine.

[15]  H. Bjornsson,et al.  Mendelian disorders of the epigenetic machinery: tipping the balance of chromatin states. , 2014, Annual review of genomics and human genetics.

[16]  Rafael A. Irizarry,et al.  Minfi: a flexible and comprehensive Bioconductor package for the analysis of Infinium DNA methylation microarrays , 2014, Bioinform..

[17]  G. Scarano,et al.  Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients , 2014, Human mutation.

[18]  Andrei L. Turinsky,et al.  Multilocus loss of DNA methylation in individuals with mutations in the histone H3 Lysine 4 Demethylase KDM5C , 2013, BMC Medical Genomics.

[19]  M. Dawson,et al.  Cancer Epigenetics: From Mechanism to Therapy , 2012, Cell.

[20]  Jeffrey T Leek,et al.  Bump hunting to identify differentially methylated regions in epigenetic epidemiology studies. , 2012, International journal of epidemiology.

[21]  Xiaodong Cheng,et al.  Molecular coupling of DNA methylation and histone methylation. , 2010, Epigenomics.

[22]  J. Gécz,et al.  Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype–phenotype correlation , 2010, European Journal of Human Genetics.

[23]  J. Gécz,et al.  A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C , 2010, PathoGenetics.

[24]  E. Li,et al.  The lysine demethylase LSD1 (KDM1) is required for maintenance of global DNA methylation , 2009, Nature Genetics.

[25]  Max Kuhn,et al.  Building Predictive Models in R Using the caret Package , 2008 .

[26]  R. Stevenson,et al.  Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia , 2008, Journal of Medical Genetics.

[27]  Hanlin Gao,et al.  A novel mutation in JARID1C/SMCX in a patient with autism spectrum disorder (ASD) , 2008, American journal of medical genetics. Part A.

[28]  Max Kuhn,et al.  The caret Package , 2007 .

[29]  J. Gécz,et al.  Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. , 2005, American journal of human genetics.

[30]  Chun Li,et al.  Genome-wide and Ordered-Subset linkage analyses provide support for autism loci on 17q and 19p with evidence of phenotypic and interlocus genetic correlates , 2005, BMC Medical Genetics.

[31]  K. Devriendt,et al.  Novel syndromic form of X-linked complicated spastic paraplegia. , 2000, American journal of medical genetics.