{"id":"https://openalex.org/W2329401245","doi":"https://doi.org/10.1097/00004703-199810000-00004","title":"Developmental Presentation of 22q11.2 Deletion (DiGeorge/Velocardiofacial Syndrome)","display_name":"Developmental Presentation of 22q11.2 Deletion (DiGeorge/Velocardiofacial Syndrome)","publication_year":1998,"publication_date":"1998-10-01","ids":{"openalex":"https://openalex.org/W2329401245","doi":"https://doi.org/10.1097/00004703-199810000-00004","mag":"2329401245","pmid":"https://pubmed.ncbi.nlm.nih.gov/9809264"},"language":"en","primary_location":{"id":"doi:10.1097/00004703-199810000-00004","doi":"https://doi.org/10.1097/00004703-199810000-00004","is_oa":false,"landing_page_url":"https://doi.org/10.1097/00004703-199810000-00004","pdf_url":null,"source":{"id":"https://openalex.org/S116305490","display_name":"Journal of Developmental & Behavioral Pediatrics","issn_l":"0196-206X","issn":["0196-206X","1536-7312"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","erih-plus","jufo-1","medline","norway-1","poland-70","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Developmental & Behavioral Pediatrics","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"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/A5042224273","display_name":"Paul P. Wang","orcid":"https://orcid.org/0000-0002-9602-5979","observed_orcids":["https://orcid.org/0000-0002-9602-5979"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]},{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"PAUL P. WANG","raw_affiliation_strings":["Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, USA","Divisions of Child Development and Neurology, Department of Pediatrics, University of Pennsylvania School of Medicine and Children's Hospital of Philadelphia, and Children's Seashore House"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, USA","institution_ids":["https://openalex.org/I79576946"]},{"raw_affiliation_string":"Divisions of Child Development and Neurology, Department of Pediatrics, University of Pennsylvania School of Medicine and Children's Hospital of Philadelphia, and Children's Seashore House","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5032099926","display_name":"Cynthia B. Solot","orcid":"https://orcid.org/0000-0003-3259-9575","observed_orcids":["https://orcid.org/0000-0003-3259-9575"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"CYNTHIA SOLOT","raw_affiliation_strings":["Children's Seashore House"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Children's Seashore House","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020064925","display_name":"Edward Moss","orcid":"https://orcid.org/0000-0002-5722-6356","observed_orcids":["https://orcid.org/0000-0002-5722-6356"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"EDWARD M. MOSS","raw_affiliation_strings":["Children's Seashore House"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Children's Seashore House","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5028958116","display_name":"Marsha Gerdes","orcid":"https://orcid.org/0000-0001-8961-2537","observed_orcids":["https://orcid.org/0000-0001-8961-2537"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]},{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"MARSHA GERDES","raw_affiliation_strings":["Division of Child Development, Department of Pediatrics, University of Pennsylvania School of Medicine and Children's Hospital of Philadelphia, and Children's Seashore House"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Child Development, Department of Pediatrics, University of Pennsylvania School of Medicine and Children's Hospital of Philadelphia, and Children's Seashore House","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5042183876","display_name":"Donna M. McDonald\u2010McGinn","orcid":"https://orcid.org/0000-0003-4077-250X","observed_orcids":["https://orcid.org/0000-0003-4077-250X"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]},{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"DONNA M. McDONALD-McGINN","raw_affiliation_strings":["Division of Human Genetics and Molecular Biology, Department of Pediatrics, University of Pennsylvania School of Medicine and Children's Hospital of Philadelphia, Philadelphia, Pennsylvania"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Human Genetics and Molecular Biology, Department of Pediatrics, University of Pennsylvania School of Medicine and Children's Hospital of Philadelphia, Philadelphia, Pennsylvania","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080605394","display_name":"Deborah A. Driscoll","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]},{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"DEBORAH A. DRISCOLL","raw_affiliation_strings":["Division of Human Genetics and Molecular Biology, Department of Pediatrics, University of Pennsylvania School of Medicine and Children's Hospital of Philadelphia, Philadelphia, Pennsylvania"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Human Genetics and Molecular Biology, Department of Pediatrics, University of Pennsylvania School of Medicine and Children's Hospital of Philadelphia, Philadelphia, Pennsylvania","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023255205","display_name":"Beverly S. Emanuel","orcid":"https://orcid.org/0000-0002-9207-6955","observed_orcids":["https://orcid.org/0000-0002-9207-6955"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]},{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"BEVERLY S. EMANUEL","raw_affiliation_strings":["Division of Human Genetics and Molecular Biology, Department of Pediatrics, University of Pennsylvania School of Medicine and Children's Hospital of Philadelphia, Philadelphia, Pennsylvania"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Human Genetics and Molecular Biology, Department of Pediatrics, University of Pennsylvania School of Medicine and Children's Hospital of Philadelphia, Philadelphia, Pennsylvania","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5008262289","display_name":"Elaine H. Zackai","orcid":"https://orcid.org/0000-0002-8002-893X","observed_orcids":["https://orcid.org/0000-0002-8002-893X"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]},{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"ELAINE H. ZACKAI","raw_affiliation_strings":["Division of Human Genetics and Molecular Biology, Department of Pediatrics, University of Pennsylvania School of Medicine and Children's Hospital of Philadelphia, Philadelphia, Pennsylvania"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Human Genetics and Molecular Biology, Department of Pediatrics, University of Pennsylvania School of Medicine and Children's Hospital of Philadelphia, Philadelphia, Pennsylvania","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":1.2602,"has_fulltext":false,"cited_by_count":28,"citation_normalized_percentile":{"value":0.79834389,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"19","issue":"5","first_page":"342","last_page":"345"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9765999913215637,"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9765999913215637,"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/T11679","display_name":"Craniofacial Disorders and Treatments","score":0.0026000000070780516,"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/T11725","display_name":"Immunodeficiency and Autoimmune Disorders","score":0.0019000000320374966,"subfield":{"id":"https://openalex.org/subfields/2403","display_name":"Immunology"},"field":{"id":"https://openalex.org/fields/24","display_name":"Immunology and Microbiology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/22q11-2-deletion-syndrome","display_name":"22q11.2 deletion syndrome","score":0.984000027179718},{"id":"https://openalex.org/keywords/developmental-delay","display_name":"developmental delay","score":0.5509999990463257},{"id":"https://openalex.org/keywords/speech-and-language-development","display_name":"speech and language development","score":0.6620000004768372}],"concepts":[{"id":"https://openalex.org/C2779688345","wikidata":"https://www.wikidata.org/wiki/Q525642","display_name":"DiGeorge syndrome","level":2,"score":0.7890428304672241},{"id":"https://openalex.org/C2777601897","wikidata":"https://www.wikidata.org/wiki/Q3409113","display_name":"Presentation (obstetrics)","level":2,"score":0.4469458758831024},{"id":"https://openalex.org/C11171543","wikidata":"https://www.wikidata.org/wiki/Q41630","display_name":"Psychoanalysis","level":1,"score":0.3817981481552124},{"id":"https://openalex.org/C53553401","wikidata":"https://www.wikidata.org/wiki/Q47307","display_name":"Genealogy","level":1,"score":0.3374617099761963},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.32293352484703064},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.31301093101501465},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.2542533874511719},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.22555384039878845},{"id":"https://openalex.org/C95457728","wikidata":"https://www.wikidata.org/wiki/Q309","display_name":"History","level":0,"score":0.18782782554626465},{"id":"https://openalex.org/C141071460","wikidata":"https://www.wikidata.org/wiki/Q40821","display_name":"Surgery","level":1,"score":0.061524778604507446}],"mesh":[{"descriptor_ui":"D001519","descriptor_name":"Behavior","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":"D002658","descriptor_name":"Developmental Disabilities","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D002658","descriptor_name":"Developmental Disabilities","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D002658","descriptor_name":"Developmental Disabilities","qualifier_ui":"Q000523","qualifier_name":"psychology","is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002872","descriptor_name":"Chromosome Deletion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D002892","descriptor_name":"Chromosomes, Human, Pair 22","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D004062","descriptor_name":"DiGeorge Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004062","descriptor_name":"DiGeorge Syndrome","qualifier_ui":"Q000523","qualifier_name":"psychology","is_major_topic":true},{"descriptor_ui":"D005145","descriptor_name":"Face","qualifier_ui":"Q000002","qualifier_name":"abnormalities","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":"D007805","descriptor_name":"Language Development Disorders","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D007805","descriptor_name":"Language Development Disorders","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D007805","descriptor_name":"Language Development Disorders","qualifier_ui":"Q000523","qualifier_name":"psychology","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}],"locations_count":2,"locations":[{"id":"doi:10.1097/00004703-199810000-00004","doi":"https://doi.org/10.1097/00004703-199810000-00004","is_oa":false,"landing_page_url":"https://doi.org/10.1097/00004703-199810000-00004","pdf_url":null,"source":{"id":"https://openalex.org/S116305490","display_name":"Journal of Developmental & Behavioral Pediatrics","issn_l":"0196-206X","issn":["0196-206X","1536-7312"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","erih-plus","jufo-1","medline","norway-1","poland-70","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Developmental & Behavioral Pediatrics","raw_type":"journal-article"},{"id":"pmid:9809264","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/9809264","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 developmental and behavioral pediatrics : JDBP","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9074000120162964,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G4384097924","display_name":"VELOCARDIOFACIAL SYNDROME-MOLECULAR AND CLINICAL STUDIES","funder_award_id":"P01DC002027","funder_id":"https://openalex.org/F4320337352","funder_display_name":"National Institute on Deafness and Other Communication Disorders"},{"id":"https://openalex.org/G497475009","display_name":"NEUROPSYCHOLOGY OF WORKING MEMORY IN GENETIC SYNDROMES","funder_award_id":"K08HD001174","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/F4320337352","display_name":"National Institute on Deafness and Other Communication Disorders","ror":"https://ror.org/04mhx6838"},{"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":0,"referenced_works":[],"related_works":["https://openalex.org/W2047774377","https://openalex.org/W2032275846","https://openalex.org/W2031745533","https://openalex.org/W2467778529","https://openalex.org/W2063900804","https://openalex.org/W2135934912","https://openalex.org/W4406933840","https://openalex.org/W3198066238","https://openalex.org/W7095739611","https://openalex.org/W74099739"],"abstract_inverted_index":{"WANG,":[0],"PAUL":[1],"P.":[2],"M.D.1;":[3],"SOLOT,":[4],"CYNTHIA":[5],"M.S.,":[6],"C.C.C.-S.L.P.2;":[7],"MOSS,":[8],"EDWARD":[9],"M.":[10,17],"Ph.D.2;":[11],"GERDES,":[12],"MARSHA":[13],"Ph.D.3;":[14],"McDONALD-McGINN,":[15],"DONNA":[16],"M.S.4;":[18],"DRISCOLL,":[19],"DEBORAH":[20],"A.":[21],"M.D.4;":[22],"EMANUEL,":[23],"BEVERLY":[24],"S.":[25],"Ph.D.4;":[26],"ZACKAI,":[27],"ELAINE":[28],"H.":[29],"M.D.4":[30],"Author":[31],"Information":[32]},"counts_by_year":[{"year":2025,"cited_by_count":2},{"year":2023,"cited_by_count":1},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":2},{"year":2015,"cited_by_count":2},{"year":2014,"cited_by_count":3}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}