David I. Rodenhiser

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

Erfan Aref‐Eshghi, Jennifer Kerkhof, Victor P. Pedro, Groupe DI France et autres

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

Erfan Aref‐Eshghi, Jennifer Kerkhof, Victor P. Pedro, Mouna Barat‐Houari et autres

ca, fr, nl, it, jp, us, au (code pays fourni par la source)

Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome

Eric G. Bend, Erfan Aref‐Eshghi, David B. Everman, R. Curtis Rogers et autres

BACKGROUND: ADNP syndrome is a rare Mendelian disorder characterized by global developmental delay, intellectual disability, and autism. It is caused by truncating mutations in ADNP, which is involved in chromatin regulation. We hypothesized that the disruption of chromatin regulation might result in …

us, ca (code pays fourni par la source)

Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions

Erfan Aref‐Eshghi, Eric G. Bend, Samantha Colaiacovo, Michelle Caudle et autres

ca, us (code pays fourni par la source)

DNA Methylation Signatures in Mendelian Developmental Disorders as a Diagnostic Bridge Between Genotype and Phenotype

Bekim Sadiković, Erfan Aref‐Eshghi, Michael A. Levy, David I. Rodenhiser

Epigenetic and genetic mechanisms regulate the establishment and maintenance of gene expression in its proper context. Recent genome-wide mapping approaches have identified DNA methylation (DNAm) signatures in patients clinically diagnosed with syndromes manifesting as developmental disabilities with intellectual impairments. Here, we review …

ca (code pays fourni par la source)

Additional file 2: of Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome

Eric G. Bend, Erfan Aref‐Eshghi, David B. Everman, R. Curtis Rogers et autres

Table S1. CpG sites differentially methylated between ADNP-1 and controls. Table S2. CpG sites differentially methylated between ADNP-2 and controls. Table S3. Differentially methylated regions in ADNP-1. Table S4. Differentially methylated regions in ADNP-2. Table S5. Gene ontology (GO) terms in ADNP-1 …

BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes

Erfan Aref‐Eshghi, Eric G. Bend, Rebecca L. Hood, Laila Cigana Schenkel et autres

Coffin-Siris and Nicolaides-Baraitser syndromes (CSS and NCBRS) are Mendelian disorders caused by mutations in subunits of the BAF chromatin remodeling complex. We report overlapping peripheral blood DNA methylation epi-signatures in individuals with various subtypes of CSS (ARID1B, SMARCB1, and SMARCA4) and NCBRS …

ca, us, au, nl (code pays fourni par la source)

Genomic DNA Methylation-Derived Algorithm Enables Accurate Detection of Malignant Prostate Tissues

Erfan Aref‐Eshghi, Laila Cigana Schenkel, Peter Ainsworth, Hanxin Lin et autres

INTRODUCTION: The current methodology involving diagnosis of prostate cancer (PCa) relies on the pathology examination of prostate needle biopsies, a method with high false negative rates partly due to temporospatial, molecular, and morphological heterogeneity of prostate adenocarcinoma. It is postulated that molecular …

ca (code pays fourni par la source)

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

Laila Cigana Schenkel, Erfan Aref‐Eshghi, Cindy D. Skinner, Peter Ainsworth et autres

Claes-Jensen syndrome is an X-linked inherited intellectual disability caused by mutations in the KDM5C gene. Kdm5c is a histone lysine demethylase involved in histone modifications and chromatin remodeling. Males with hemizygous mutations in KDM5C present with intellectual disability and facial dysmorphism, while …

ca, us (code pays fourni par la source)

Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes

Erfan Aref‐Eshghi, David I. Rodenhiser, Laila Cigana Schenkel, Hanxin Lin et autres

ca, us (code pays fourni par la source)

Epigenomic Mechanisms of Human Developmental Disorders

Erfan Aref‐Eshghi, Laila Cigana Schenkel, Deanna Alexis Carere, David I. Rodenhiser et autres

ca (code pays fourni par la source)

List of Contributors

Neha Aggarwal, Yasuto Araki, Erfan Aref‐Eshghi, Takahiro Arima et autres

us, jp, ca, gb, tw, pr, it, au, nl (code pays fourni par la source)