{"cited_by_count":553689,"description":"This cluster of papers explores the phenomenon of genomic imprinting, where certain genes are expressed in a parent-of-origin-specific manner. It covers topics such as parental influence on gene expression, epigenetic regulation through DNA methylation, and the role of imprinted genes in syndromes like Prader-Willi and Angelman. Additionally, it delves into the mechanisms of imprint control regions and the involvement of non-coding RNA in regulating imprinted gene networks.","display_name":"Genetic Syndromes and Imprinting","domain_id":"1","external_ids":{"openalex":"https://openalex.org/T11928","wikipedia":"https://en.wikipedia.org/wiki/Genomic_imprinting"},"field_id":"13","id":"T11928","keywords":[{"display_name":"genomic imprinting","id":"genomic-imprinting","score":0.5981,"url":"https://openalex.org/keywords/genomic-imprinting"},{"display_name":"Prader-Willi syndrome","id":"prader-willi-syndrome","score":0.5284,"url":"https://openalex.org/keywords/prader-willi-syndrome"},{"display_name":"Angelman syndrome","id":"angelman-syndrome","score":0.5554,"url":"https://openalex.org/keywords/angelman-syndrome"},{"display_name":"Beckwith-Wiedemann syndrome","id":"beckwith-wiedemann-syndrome","score":0.6028,"url":"https://openalex.org/keywords/beckwith-wiedemann-syndrome"},{"display_name":"imprinted genes","id":"imprinted-genes","score":0.6141,"url":"https://openalex.org/keywords/imprinted-genes"},{"display_name":"Silver-Russell syndrome","id":"silver-russell-syndrome","score":0.6382,"url":"https://openalex.org/keywords/silver-russell-syndrome"},{"display_name":"H19","id":"h19","score":0.2855,"url":"https://openalex.org/keywords/h19"},{"display_name":"monoallelic expression","id":"monoallelic-expression","score":0.5434,"url":"https://openalex.org/keywords/monoallelic-expression"},{"display_name":"uniparental disomy","id":"uniparental-disomy","score":0.3344,"url":"https://openalex.org/keywords/uniparental-disomy"},{"display_name":"imprinting control regions","id":"imprinting-control-regions","score":0.7893,"url":"https://openalex.org/keywords/imprinting-control-regions"},{"display_name":"UBE3A","id":"ube3a","score":0.3368,"url":"https://openalex.org/keywords/ube3a"},{"display_name":"chromosome 15q11-q13","id":"chromosome-15q11-q13","score":0.7229,"url":"https://openalex.org/keywords/chromosome-15q11-q13"},{"display_name":"loss of imprinting","id":"loss-of-imprinting","score":0.7283,"url":"https://openalex.org/keywords/loss-of-imprinting"},{"display_name":"imprinting disorders","id":"imprinting-disorders","score":0.7762,"url":"https://openalex.org/keywords/imprinting-disorders"},{"display_name":"SNRPN","id":"snrpn","score":0.6717,"url":"https://openalex.org/keywords/snrpn"},{"display_name":"Sotos syndrome","id":"sotos-syndrome","score":0.3669,"url":"https://openalex.org/keywords/sotos-syndrome"},{"display_name":"overgrowth syndromes","id":"overgrowth-syndromes","score":0.2938,"url":"https://openalex.org/keywords/overgrowth-syndromes"},{"display_name":"parent-of-origin gene expression","id":"parent-of-origin-gene-expression","score":0.8729,"url":"https://openalex.org/keywords/parent-of-origin-gene-expression"},{"display_name":"paternal uniparental disomy","id":"paternal-uniparental-disomy","score":0.7426,"url":"https://openalex.org/keywords/paternal-uniparental-disomy"},{"display_name":"CDKN1C","id":"cdkn1c","score":0.3538,"url":"https://openalex.org/keywords/cdkn1c"},{"display_name":"maternal uniparental disomy","id":"maternal-uniparental-disomy","score":0.7161,"url":"https://openalex.org/keywords/maternal-uniparental-disomy"},{"display_name":"biallelic expression","id":"biallelic-expression","score":0.705,"url":"https://openalex.org/keywords/biallelic-expression"},{"display_name":"paternally expressed genes","id":"paternally-expressed-genes","score":0.7662,"url":"https://openalex.org/keywords/paternally-expressed-genes"},{"display_name":"parent-of-origin effects","id":"parent-of-origin-effects","score":0.2051,"url":"https://openalex.org/keywords/parent-of-origin-effects"},{"display_name":"IGF2R","id":"igf2r","score":0.2823,"url":"https://openalex.org/keywords/igf2r"}],"legacy_keywords":["Genomic Imprinting","Parental Influence","Epigenetic Regulation","Imprinted Genes","Prader-Willi Syndrome","Angelman Syndrome","DNA Methylation","Gene Expression","Imprint Control Region","Non-coding RNA"],"openalex_id":"https://openalex.org/T11928","source_created_date":"2024-01-23T15:27:12","source_updated_date":"2026-10-17T03:02:00","subfield_id":"1311","url":"/topics/T11928","works_api_url":"https://api.openalex.org/works?filter=topics.id:T11928","works_count":21575,"label":"Genetic Syndromes and Imprinting","provider":"openalex","revision":"58bc9a1bd84b1b58","taxonomy_revision":"f050b5d4780b1289","title":"Genetic Syndromes and Imprinting","kind":"topic-directory","aeo_cohort":"topic-directory","catalogue_revision":"f050b5d4780b1289","numeric_address":"36183297730864711","address_version":"morton4x16-v1","coordinates":[1,13,1311,11928],"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}