[HTML][HTML] A guide for the diagnosis of rare and undiagnosed disease: beyond the exome
Rare diseases affect 30 million people in the USA and more than 300–400 million
worldwide, often causing chronic illness, disability, and premature death. Traditional …
worldwide, often causing chronic illness, disability, and premature death. Traditional …
DNA hypermethylation in disease: mechanisms and clinical relevance
M Ehrlich - Epigenetics, 2019 - Taylor & Francis
Increasing numbers of studies implicate abnormal DNA methylation in cancer and many non-
malignant diseases. This is consistent with numerous findings about differentiation …
malignant diseases. This is consistent with numerous findings about differentiation …
[HTML][HTML] Genetic testing in neurodevelopmental disorders
Neurodevelopmental disorders are the most prevalent chronic medical conditions
encountered in pediatric primary care. In addition to identifying appropriate descriptive …
encountered in pediatric primary care. In addition to identifying appropriate descriptive …
[HTML][HTML] Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders
Purpose We describe the clinical implementation of genome-wide DNA methylation analysis
in rare disorders across the EpiSign diagnostic laboratory network and the assessment of …
in rare disorders across the EpiSign diagnostic laboratory network and the assessment of …
[HTML][HTML] Evaluation of DNA methylation episignatures for diagnosis and phenotype correlations in 42 Mendelian neurodevelopmental disorders
E Aref-Eshghi, J Kerkhof, VP Pedro… - The American Journal of …, 2020 - cell.com
Genetic syndromes frequently present with overlapping clinical features and inconclusive or
ambiguous genetic findings which can confound accurate diagnosis and clinical …
ambiguous genetic findings which can confound accurate diagnosis and clinical …
The interplay between DNA and histone methylation: molecular mechanisms and disease implications
Methylation of cytosine in CpG dinucleotides and histone lysine and arginine residues is a
chromatin modification that critically contributes to the regulation of genome integrity …
chromatin modification that critically contributes to the regulation of genome integrity …
Beyond the exome: what's next in diagnostic testing for Mendelian conditions
Despite advances in clinical genetic testing, including the introduction of exome sequencing
(ES), more than 50% of individuals with a suspected Mendelian condition lack a precise …
(ES), more than 50% of individuals with a suspected Mendelian condition lack a precise …
[HTML][HTML] Epigenomic signatures reveal mechanistic clues and predictive markers for autism spectrum disorder
JM LaSalle - Molecular psychiatry, 2023 - nature.com
Autism spectrum disorder (ASD) comprises a heterogeneous group of neurodevelopmental
outcomes in children with a commonality in deficits in social communication and language …
outcomes in children with a commonality in deficits in social communication and language …
[HTML][HTML] Machine learning and clinical epigenetics: a review of challenges for diagnosis and classification
Background Machine learning is a sub-field of artificial intelligence, which utilises large data
sets to make predictions for future events. Although most algorithms used in machine …
sets to make predictions for future events. Although most algorithms used in machine …
[HTML][HTML] Diagnostic utility of genome-wide DNA methylation testing in genetically unsolved individuals with suspected hereditary conditions
E Aref-Eshghi, EG Bend, S Colaiacovo… - The American Journal of …, 2019 - cell.com
Conventional genetic testing of individuals with neurodevelopmental presentations and
congenital anomalies (ND/CAs), ie, the analysis of sequence and copy number variants …
congenital anomalies (ND/CAs), ie, the analysis of sequence and copy number variants …