{"id":"https://openalex.org/W4401667294","doi":"https://doi.org/10.1007/s10803-024-06500-5","title":"Expanding the Neuropsychological Phenotype of KAT6B Disorders: Overlapping Features with KAT6A Syndrome","display_name":"Expanding the Neuropsychological Phenotype of KAT6B Disorders: Overlapping Features with KAT6A Syndrome","publication_year":2024,"publication_date":"2024-08-17","ids":{"openalex":"https://openalex.org/W4401667294","doi":"https://doi.org/10.1007/s10803-024-06500-5","pmid":"https://pubmed.ncbi.nlm.nih.gov/39153151"},"language":"en","primary_location":{"id":"doi:10.1007/s10803-024-06500-5","doi":"https://doi.org/10.1007/s10803-024-06500-5","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s10803-024-06500-5","pdf_url":null,"source":{"id":"https://openalex.org/S181451930","display_name":"Journal of Autism and Developmental Disorders","issn_l":"0162-3257","issn":["0162-3257","1573-3432"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-b","doyens","erih-plus","jufo-2","ki-jl-1","medline","norway-1","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Autism and Developmental Disorders","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5040104369","display_name":"Rowena Ng","orcid":"https://orcid.org/0000-0001-7193-4300","observed_orcids":["https://orcid.org/0000-0001-7193-4300","https://orcid.org/0000-0002-9239-112X"]},"institutions":[{"id":"https://openalex.org/I1298154867","display_name":"Kennedy Krieger Institute","ror":"https://ror.org/05q6tgt32","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I1298154867"]},{"id":"https://openalex.org/I145311948","display_name":"Johns Hopkins University","ror":"https://ror.org/00za53h95","country_code":"US","type":"education","lineage":["https://openalex.org/I145311948"]},{"id":"https://openalex.org/I2799853436","display_name":"Johns Hopkins Medicine","ror":"https://ror.org/037zgn354","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2799853436"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Rowena Ng","raw_affiliation_strings":["Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, USA. ngr@kennedykrieger.org","Dept of Neuropsychology, Kennedy Krieger Institute, 1750 E. Fairmount Ave, Baltimore, USA. ngr@kennedykrieger.org","Dept of Neuropsychology, Kennedy Krieger Institute, 1750 E. Fairmount Ave, Baltimore, USA"],"raw_orcid":"https://orcid.org/0000-0001-7193-4300","affiliations":[{"raw_affiliation_string":"Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, USA. ngr@kennedykrieger.org","institution_ids":["https://openalex.org/I145311948","https://openalex.org/I2799853436"]},{"raw_affiliation_string":"Dept of Neuropsychology, Kennedy Krieger Institute, 1750 E. Fairmount Ave, Baltimore, USA. ngr@kennedykrieger.org","institution_ids":["https://openalex.org/I1298154867"]},{"raw_affiliation_string":"Dept of Neuropsychology, Kennedy Krieger Institute, 1750 E. Fairmount Ave, Baltimore, USA","institution_ids":["https://openalex.org/I1298154867"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5033914872","display_name":"Allison J. Kalinousky","orcid":"https://orcid.org/0000-0001-7292-8500","observed_orcids":["https://orcid.org/0000-0001-7292-8500"]},"institutions":[{"id":"https://openalex.org/I145311948","display_name":"Johns Hopkins University","ror":"https://ror.org/00za53h95","country_code":"US","type":"education","lineage":["https://openalex.org/I145311948"]},{"id":"https://openalex.org/I2799853436","display_name":"Johns Hopkins Medicine","ror":"https://ror.org/037zgn354","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2799853436"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Allison Kalinousky","raw_affiliation_strings":["Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, USA","institution_ids":["https://openalex.org/I145311948","https://openalex.org/I2799853436"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5058025908","display_name":"Jacqueline R. Harris","orcid":"https://orcid.org/0000-0001-8465-2142","observed_orcids":["https://orcid.org/0000-0001-8465-2142"]},"institutions":[{"id":"https://openalex.org/I1298154867","display_name":"Kennedy Krieger Institute","ror":"https://ror.org/05q6tgt32","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I1298154867"]},{"id":"https://openalex.org/I145311948","display_name":"Johns Hopkins University","ror":"https://ror.org/00za53h95","country_code":"US","type":"education","lineage":["https://openalex.org/I145311948"]},{"id":"https://openalex.org/I2799853436","display_name":"Johns Hopkins Medicine","ror":"https://ror.org/037zgn354","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2799853436"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jacqueline Harris","raw_affiliation_strings":["Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, USA","Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, USA","Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, USA","Dept of Neuropsychology, Kennedy Krieger Institute, 1750 E. Fairmount Ave, Baltimore, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, USA","institution_ids":["https://openalex.org/I145311948","https://openalex.org/I2799853436"]},{"raw_affiliation_string":"Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, USA","institution_ids":["https://openalex.org/I145311948","https://openalex.org/I2799853436"]},{"raw_affiliation_string":"Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, USA","institution_ids":["https://openalex.org/I145311948","https://openalex.org/I2799853436"]},{"raw_affiliation_string":"Dept of Neuropsychology, Kennedy Krieger Institute, 1750 E. Fairmount Ave, Baltimore, USA","institution_ids":["https://openalex.org/I1298154867"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5040104369"],"corresponding_institution_ids":["https://openalex.org/I1298154867","https://openalex.org/I145311948","https://openalex.org/I2799853436"],"apc_list":{"value":3090,"currency":"USD","value_usd":3090},"apc_paid":null,"fwci":0.2642,"has_fulltext":false,"cited_by_count":1,"citation_normalized_percentile":{"value":0.52228872,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":90,"max":94},"biblio":{"volume":"55","issue":"12","first_page":"4337","last_page":"4346"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.9883000254631042,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.9883000254631042,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.006200000178068876,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.0008999999845400453,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/histone-acetylation","display_name":"histone acetylation","score":0.8320000171661377},{"id":"https://openalex.org/keywords/epigenetic-disorders","display_name":"epigenetic disorders","score":0.9120000004768372},{"id":"https://openalex.org/keywords/neuropsychological-phenotype","display_name":"neuropsychological phenotype","score":0.9079999923706055},{"id":"https://openalex.org/keywords/nonverbal-cognition","display_name":"nonverbal cognition","score":0.7900000214576721},{"id":"https://openalex.org/keywords/autism-like-behavior","display_name":"autism-like behavior","score":0.7059999704360962},{"id":"https://openalex.org/keywords/adaptive-behavior","display_name":"adaptive behavior","score":0.4959999918937683},{"id":"https://openalex.org/keywords/social-motivation","display_name":"social motivation","score":0.8690000176429749},{"id":"https://openalex.org/keywords/receptive-language","display_name":"receptive language","score":0.8730000257492065}],"concepts":[{"id":"https://openalex.org/C14216870","wikidata":"https://www.wikidata.org/wiki/Q3872","display_name":"Neuropsychology","level":3,"score":0.5927476286888123},{"id":"https://openalex.org/C205778803","wikidata":"https://www.wikidata.org/wiki/Q38404","display_name":"Autism","level":2,"score":0.5148345828056335},{"id":"https://openalex.org/C172467417","wikidata":"https://www.wikidata.org/wiki/Q1670397","display_name":"Neurocognitive","level":3,"score":0.5010263919830322},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.490446537733078},{"id":"https://openalex.org/C70410870","wikidata":"https://www.wikidata.org/wiki/Q199906","display_name":"Clinical psychology","level":1,"score":0.43958547711372375},{"id":"https://openalex.org/C169900460","wikidata":"https://www.wikidata.org/wiki/Q2200417","display_name":"Cognition","level":2,"score":0.40264004468917847},{"id":"https://openalex.org/C138496976","wikidata":"https://www.wikidata.org/wiki/Q175002","display_name":"Developmental psychology","level":1,"score":0.2564099431037903},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.2428337037563324}],"mesh":[{"descriptor_ui":"D000067877","descriptor_name":"Autism Spectrum Disorder","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000067877","descriptor_name":"Autism Spectrum Disorder","qualifier_ui":"Q000523","qualifier_name":"psychology","is_major_topic":true},{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009483","descriptor_name":"Neuropsychological Tests","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051548","descriptor_name":"Histone Acetyltransferases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1007/s10803-024-06500-5","doi":"https://doi.org/10.1007/s10803-024-06500-5","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s10803-024-06500-5","pdf_url":null,"source":{"id":"https://openalex.org/S181451930","display_name":"Journal of Autism and Developmental Disorders","issn_l":"0162-3257","issn":["0162-3257","1573-3432"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-b","doyens","erih-plus","jufo-2","ki-jl-1","medline","norway-1","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Autism and Developmental Disorders","raw_type":"journal-article"},{"id":"pmid:39153151","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/39153151","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of autism and developmental disorders","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9391000270843506,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"sustainable_development_goals_aurora":[{"score":0.47999998927116394,"display_name":"Zero hunger","id":"https://metadata.un.org/sdg/2"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[{"id":"https://openalex.org/G2334413153","display_name":"Intellectual and Developmental Disabilities Research Centers 2020","funder_award_id":"P50HD103538","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"}],"funders":[{"id":"https://openalex.org/F4320337364","display_name":"National Institute of Child Health and Human Development","ror":"https://ror.org/04byxyr05"},{"id":"https://openalex.org/F4320337611","display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","ror":"https://ror.org/04byxyr05"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":34,"referenced_works":["https://openalex.org/W156067940","https://openalex.org/W1971748272","https://openalex.org/W1979317344","https://openalex.org/W1979850030","https://openalex.org/W2014872693","https://openalex.org/W2033005712","https://openalex.org/W2076829837","https://openalex.org/W2092918092","https://openalex.org/W2127027496","https://openalex.org/W2133404976","https://openalex.org/W2342645475","https://openalex.org/W2560767699","https://openalex.org/W2610546458","https://openalex.org/W2805189498","https://openalex.org/W2890142544","https://openalex.org/W2914242805","https://openalex.org/W2945434152","https://openalex.org/W3024906885","https://openalex.org/W3092551341","https://openalex.org/W3186180146","https://openalex.org/W3200730467","https://openalex.org/W4205285540","https://openalex.org/W4234850583","https://openalex.org/W4250523496","https://openalex.org/W4288033923","https://openalex.org/W4292566395","https://openalex.org/W4297777180","https://openalex.org/W4378574177","https://openalex.org/W4378745920","https://openalex.org/W4381618799","https://openalex.org/W4389341948","https://openalex.org/W4394589374","https://openalex.org/W4396858021","https://openalex.org/W7075648313"],"related_works":["https://openalex.org/W4392588903","https://openalex.org/W4396858021","https://openalex.org/W4210507227","https://openalex.org/W4409893089","https://openalex.org/W4324117143","https://openalex.org/W4407367664","https://openalex.org/W7133873328","https://openalex.org/W3213014014","https://openalex.org/W3024906885","https://openalex.org/W1511519051"],"abstract_inverted_index":null,"counts_by_year":[{"year":2025,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2024-08-18T00:00:00"}