Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome - Bend, Eric G.; Aref-Eshghi, Erfan; Everman, David B.; Rogers, R. Curtis; Cathey, Sara S.; Prijoles, Eloise J.; Lyons, Michael J.; Davis, Heather; Clarkson, Katie; Gripp, Karen W.; Li, Dong; Bhoj, Elizabeth; et al. (Clinical epigenetics, 2019)
Keywords: ADNP; ADNP protein; Age; Analysis; Autism; Autism Spectrum Disorder - genetics; Bioinformatics; C-Terminus; Causes of; Child; Child, Preschool; Chromatin; Computational Biology - methods; CpG Islands; Deoxyribonucleic acid; Diagnosis; DNA; DNA Methylation; DNA sequencing; Early Diagnosis; Epigenesis, Genetic; Epigenetic inheritance; Epigenetics; Episignature; Female; Gene expression; Genes; Genetic diversity; Genetics; Genomes; Genomics; Helsmoortel-Van der Aa syndrome; Homeodomain Proteins - genetics; Humans; Intellectual disabilities; Intellectual Disability - genetics; Localization; Male; Medical research; Methylation; Models, Genetic; Mutation; Nerve Tissue Proteins - genetics; Neurodevelopmental Disorders - diagnosis; Neurodevelopmental Disorders - genetics; Neurons; Peripheral blood; Pervasive developmental disorders; Proteins; Reclassification; Autism; Intellectual disability; Disease screening; Episignature; DNA methylation; Epigenetics; Helsmoortel-Van der Aa syndrome; ADNP; Unresolved clinical cases