December 11, 2025 review Open access Analysis Methods for Diagnosing Rare Neurodevelopmental Diseases with Episignatures: A Systematic Review of the Literature Biomedicines DOI: 10.3390/biomedicines13123043 Full text (OA) OpenAlex Authors 0 Author list not loaded yet. Cited by 0 stored of 0 References 14 Search Sort Most cited Newest Oldest Patent citations Title Any typearticle review book-chapter conference-paper preprint dissertation book dataset other Any fieldAgricultural and Biological Sciences Arts and Humanities Biochemistry, Genetics and Molecular Biology Business, Management and Accounting Chemical Engineering Chemistry Computer Science Decision Sciences Dentistry Earth and Planetary Sciences Economics, Econometrics and Finance Energy Engineering Environmental Science Health Professions Immunology and Microbiology Materials Science Mathematics Medicine Neuroscience Nursing Pharmacology, Toxicology and Pharmaceutics Physics and Astronomy Psychology Social Sciences Veterinary Open access Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders 2021 Human Genetics and Genomics Advances article Biochemistry, Genetics and Molecular Biology Epigenetics and DNA Methylation Open access 155 citations The Epigenome in Neurodevelopmental Disorders 2021 Frontiers in Neuroscience article Biochemistry, Genetics and Molecular Biology Epigenetics and DNA Methylation Open access 114 citations Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders 2022 Human Mutation article Biochemistry, Genetics and Molecular Biology Epigenetics and DNA Methylation Open access 77 citations Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature 2021 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access 73 citations Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature 2020 Clinical Epigenetics article Biochemistry, Genetics and Molecular Biology Epigenetics and DNA Methylation Open access 61 citations Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood 2021 npj Genomic Medicine article Biochemistry, Genetics and Molecular Biology Epigenetics and DNA Methylation Open access 30 citations Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes 2024 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access 29 citations Epigenotype–genotype–phenotype correlations in SETD1A and SETD2 chromatin disorders 2023 Human Molecular Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access 18 citations Episignature Mapping of TRIP12 Provides Functional Insight into Clark–Baraitser Syndrome 2022 International Journal of Molecular Sciences article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access 15 citations The detection of a strong episignature for Chung–Jansen syndrome, partially overlapping with Börjeson–Forssman–Lehmann and White–Kernohan syndromes 2024 Human Genetics article Biochemistry, Genetics and Molecular Biology Epigenetics and DNA Methylation Open access 12 citations ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature 2025 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access 8 citations Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile 2024 Clinical Genetics article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access 7 citations Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy 2024 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access 6 citations DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants 2024 Human Genetics and Genomics Advances article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access 4 citations 14 results