Functional genomics analysis of Phelan-McDermid syndrome 22q13 region during human neurodevelopment - Ziats, Catherine A.; Grosvenor, Luke P.; Sarasua, Sara M.; Thurm, Audrey E.; Swedo, Susan E.; Mahfouz, Ahmed; Rennert, Owen M.; Ziats, Mark N. (PloS one, 2019)
Keywords: Adolescent; Adult; Amygdala; Analysis; Autism; Biology and Life Sciences; Brain; Brain - embryology; Brain - growth & development; Brain - metabolism; Brain research; Care and treatment; Cerebellum; Child; Child, Preschool; Childrens health; Chromosome 22; Chromosome Deletion; Chromosome Disorders - embryology; Chromosome Disorders - genetics; Chromosome Disorders - pathology; Chromosomes, Human, Pair 22 - genetics; Datasets; Disease; Exons; Female; Gene deletion; Gene expression; Gene Expression Regulation, Developmental; Gene sequencing; Genes; Genetic research; Genetics; Genomics; Genotype & phenotype; Health aspects; Heterogeneity; Humans; Infant; Infant, Newborn; Intellectual disabilities; Isoforms; Language acquisition; Male; Medicine; Medicine and Health Sciences; Mental health; Nerve Tissue Proteins - genetics; Nervous system diseases; Neurodevelopmental disorders; Neurological diseases; Neurology; Neurosciences; Organ Specificity - genetics; Pediatrics; Phelan-McDermid syndrome; Phenotype; Phenotypes; Pregnant women; Ribonucleic acid; RNA; Signs and symptoms; Spatial analysis; Transcriptome; Young Adult; New York; United States--US; Maryland; Michigan