{"cited_by_count":826845,"description":"This cluster of papers focuses on the molecular basis, genetic mutations, and neurological manifestations of Rett syndrome and related disorders such as Fragile X syndrome. It explores the role of MeCP2, synaptic function, autism-like behaviors, and altered brain development in these conditions.","display_name":"Genetics and Neurodevelopmental Disorders","domain_id":"1","external_ids":{"openalex":"https://openalex.org/T11772","wikipedia":"https://en.wikipedia.org/wiki/Rett_syndrome"},"field_id":"13","id":"T11772","keywords":[{"display_name":"fragile X syndrome","id":"fragile-x-syndrome","score":0.6804,"url":"https://openalex.org/keywords/fragile-x-syndrome"},{"display_name":"Rett syndrome","id":"rett-syndrome","score":0.7143,"url":"https://openalex.org/keywords/rett-syndrome"},{"display_name":"FMR1 gene","id":"fmr1","score":0.7948,"url":"https://openalex.org/keywords/fmr1"},{"display_name":"FMRP","id":"fmrp","score":0.7768,"url":"https://openalex.org/keywords/fmrp"},{"display_name":"MeCP2","id":"mecp2","score":0.5398,"url":"https://openalex.org/keywords/mecp2"},{"display_name":"fragile X premutation","id":"fmr1-premutation","score":0.739,"url":"https://openalex.org/keywords/fmr1-premutation"},{"display_name":"X-linked intellectual disability","id":"x-linked-intellectual-disability","score":0.6059,"url":"https://openalex.org/keywords/x-linked-intellectual-disability"},{"display_name":"CGG repeat expansion","id":"cgg-repeat-expansion","score":0.8198,"url":"https://openalex.org/keywords/cgg-repeat-expansion"},{"display_name":"Fmr1 knockout mice","id":"fmr1-knockout-mice","score":0.8498,"url":"https://openalex.org/keywords/fmr1-knockout-mice"},{"display_name":"fragile X-associated tremor/ataxia syndrome","id":"fragile-x-associated-tremor-ataxia-syndrome","score":0.5815,"url":"https://openalex.org/keywords/fragile-x-associated-tremor-ataxia-syndrome"},{"display_name":"MECP2 mutations","id":"mecp2-mutations","score":0.9107,"url":"https://openalex.org/keywords/mecp2-mutations"},{"display_name":"SHANK3","id":"shank3","score":0.4324,"url":"https://openalex.org/keywords/shank3"},{"display_name":"premutation","id":"premutation","score":0.7911,"url":"https://openalex.org/keywords/premutation"},{"display_name":"full mutation","id":"full-mutation","score":0.9505,"url":"https://openalex.org/keywords/full-mutation"},{"display_name":"MECP2 gene","id":"mecp2-gene","score":0.921,"url":"https://openalex.org/keywords/mecp2-gene"},{"display_name":"Phelan-McDermid syndrome","id":"phelan-mcdermid-syndrome","score":0.4096,"url":"https://openalex.org/keywords/phelan-mcdermid-syndrome"},{"display_name":"FOXP2","id":"foxp2","score":0.2073,"url":"https://openalex.org/keywords/foxp2"},{"display_name":"CDKL5","id":"cdkl5","score":0.4823,"url":"https://openalex.org/keywords/cdkl5"},{"display_name":"Shank2","id":"shank2","score":0.4942,"url":"https://openalex.org/keywords/shank2"},{"display_name":"fragile X chromosome","id":"fragile-x-chromosome","score":0.7329,"url":"https://openalex.org/keywords/fragile-x-chromosome"},{"display_name":"X-linked neurodevelopmental disorder","id":"x-linked-neurodevelopmental-disorder","score":0.7925,"url":"https://openalex.org/keywords/x-linked-neurodevelopmental-disorder"},{"display_name":"MECP2 duplication syndrome","id":"mecp2-duplication-syndrome","score":0.7847,"url":"https://openalex.org/keywords/mecp2-duplication-syndrome"},{"display_name":"Coffin-Lowry syndrome","id":"coffin-lowry-syndrome","score":0.5867,"url":"https://openalex.org/keywords/coffin-lowry-syndrome"},{"display_name":"non-syndromic intellectual disability","id":"non-syndromic-intellectual-disability","score":0.5623,"url":"https://openalex.org/keywords/non-syndromic-intellectual-disability"},{"display_name":"SYNGAP1","id":"syngap1","score":0.4466,"url":"https://openalex.org/keywords/syngap1"}],"legacy_keywords":["Rett Syndrome","Fragile X Syndrome","MeCP2","Neurological Disease","Synaptic Function","Autism","mGluR theory","Dendritic Spines","Brain Development","Genetic Mutations"],"openalex_id":"https://openalex.org/T11772","source_created_date":"2024-01-23T15:27:11","source_updated_date":"2026-10-17T03:02:00","subfield_id":"1311","url":"/topics/T11772","works_api_url":"https://api.openalex.org/works?filter=topics.id:T11772","works_count":37613,"label":"Genetics and Neurodevelopmental Disorders","provider":"openalex","revision":"4f4891c9291bb35a","taxonomy_revision":"f050b5d4780b1289","title":"Genetics and Neurodevelopmental Disorders","kind":"topic-directory","aeo_cohort":"topic-directory","catalogue_revision":"f050b5d4780b1289","numeric_address":"36182782477397575","address_version":"morton4x16-v1","coordinates":[1,13,1311,11772],"answer_status":"Directory metadata; local answer requires separate source review","truth_status":"Subject descriptor, not a factual answer or a demonstrated knowledge gap","reviewed_answer":null}