{"id":"https://openalex.org/W4390741414","doi":"https://doi.org/10.1038/s41525-023-00389-2","title":"Kagami Ogata syndrome: a small deletion refines critical region for imprinting","display_name":"Kagami Ogata syndrome: a small deletion refines critical region for imprinting","publication_year":2024,"publication_date":"2024-01-11","ids":{"openalex":"https://openalex.org/W4390741414","doi":"https://doi.org/10.1038/s41525-023-00389-2","pmid":"https://pubmed.ncbi.nlm.nih.gov/38212313","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/10784583"},"language":"en","primary_location":{"id":"doi:10.1038/s41525-023-00389-2","doi":"https://doi.org/10.1038/s41525-023-00389-2","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s41525-023-00389-2","pdf_url":"https://www.nature.com/articles/s41525-023-00389-2.pdf","source":{"id":"https://openalex.org/S2737523697","display_name":"npj Genomic Medicine","issn_l":"2056-7944","issn":["2056-7944"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-1","norway-1","oarl","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319908","host_organization_name":"Nature Portfolio","host_organization_lineage":["https://openalex.org/P4310319908","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Nature Portfolio","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"npj Genomic Medicine","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://www.nature.com/articles/s41525-023-00389-2.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5001036638","display_name":"Gonench Kilich","orcid":"https://orcid.org/0009-0006-5043-6066","observed_orcids":["https://orcid.org/0009-0006-5043-6066"]},"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"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Gonench Kilich","raw_affiliation_strings":["Division of Allergy and Immunology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA"],"raw_orcid":"https://orcid.org/0009-0006-5043-6066","affiliations":[{"raw_affiliation_string":"Division of Allergy and Immunology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5051294697","display_name":"Kelly Hassey","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"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kelly Hassey","raw_affiliation_strings":["Division of Allergy and Immunology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Allergy and Immunology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067266858","display_name":"Edward M. Behrens","orcid":"https://orcid.org/0000-0002-4603-7963","observed_orcids":["https://orcid.org/0000-0002-4603-7963","https://orcid.org/0000-0003-3837-5337"]},"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":"Edward M. Behrens","raw_affiliation_strings":["Division of Rheumatology, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Rheumatology, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5052597982","display_name":"Marni J. Falk","orcid":"https://orcid.org/0000-0002-1723-6728","observed_orcids":["https://orcid.org/0000-0002-1723-6728"]},"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":"Marni Falk","raw_affiliation_strings":["Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, and Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, and Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013089390","display_name":"Adeline L. Vanderver","orcid":"https://orcid.org/0000-0002-6290-6751","observed_orcids":["https://orcid.org/0000-0002-6290-6751"]},"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":"Adeline Vanderver","raw_affiliation_strings":["Division of Neurology, Children's Hospital of Philadelphia and Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Neurology, Children's Hospital of Philadelphia and Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067149045","display_name":"Daniel James Rader","orcid":"https://orcid.org/0000-0002-9245-9876","observed_orcids":["https://orcid.org/0000-0002-9245-9876"]},"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"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Daniel J. Rader","raw_affiliation_strings":["Departments of Medicine, Pediatrics and Genetics, Perelman School of Medicine and Children's Hospital of Philadelphia, Philadelphia, PA, USA"],"raw_orcid":"https://orcid.org/0000-0002-9245-9876","affiliations":[{"raw_affiliation_string":"Departments of Medicine, Pediatrics and Genetics, Perelman School of Medicine and Children's Hospital of Philadelphia, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5017467779","display_name":"Patrick J. Cahill","orcid":"https://orcid.org/0000-0002-7129-1007","observed_orcids":["https://orcid.org/0000-0002-7129-1007"]},"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"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Patrick J. Cahill","raw_affiliation_strings":["Division of Orthopedic Surgery, The Children's Hospital of Philadelphia, Philadelphia, PA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Orthopedic Surgery, The Children's Hospital of Philadelphia, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000401057","display_name":"Anna C. Raper","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2799810409","display_name":"Hospital of the University of Pennsylvania","ror":"https://ror.org/02917wp91","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2799810409","https://openalex.org/I4210143392"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Anna Raper","raw_affiliation_strings":["Division of Translational Medicine and Human Genetics, Department of Medicine, Hospital of the University of Pennsylvania, Philadelphia, PA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Translational Medicine and Human Genetics, Department of Medicine, Hospital of the University of Pennsylvania, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I2799810409"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Zhe Zhang","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"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Zhe Zhang","raw_affiliation_strings":["The Center for Biomedical Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Center for Biomedical Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5093703446","display_name":"Dawn Westerfer","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"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Dawn Westerfer","raw_affiliation_strings":["Division of Allergy and Immunology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Allergy and Immunology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5012129794","display_name":"Tanaya Jadhav","orcid":"https://orcid.org/0000-0003-4163-0271","observed_orcids":["https://orcid.org/0000-0003-4163-0271"]},"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"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Tanaya Jadhav","raw_affiliation_strings":["Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA"],"raw_orcid":"https://orcid.org/0000-0003-4163-0271","affiliations":[{"raw_affiliation_string":"Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5049699006","display_name":"Laura Kathleen Conlin","orcid":"https://orcid.org/0000-0003-2330-8158","observed_orcids":["https://orcid.org/0000-0003-2330-8158"]},"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"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Laura Conlin","raw_affiliation_strings":["Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5073920005","display_name":"Kosuke Izumi","orcid":"https://orcid.org/0000-0002-7922-7480","observed_orcids":["https://orcid.org/0000-0002-7922-7480"]},"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/I867280407","display_name":"The University of Texas Southwestern Medical Center","ror":"https://ror.org/05byvp690","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I867280407"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kosuke Izumi","raw_affiliation_strings":["Division of Genetics and Metabolism, Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, USA","Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Genetics and Metabolism, Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, USA","institution_ids":["https://openalex.org/I867280407"]},{"raw_affiliation_string":"Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5034041074","display_name":"Ramakrishnan Rajagopalan","orcid":"https://orcid.org/0000-0002-5751-9239","observed_orcids":["https://orcid.org/0000-0002-5751-9239"]},"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":"Ramakrishnan Rajagopalan","raw_affiliation_strings":["Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, and Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, and Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5005713194","display_name":"Kathleen E. Sullivan","orcid":"https://orcid.org/0000-0003-4018-1646","observed_orcids":["https://orcid.org/0000-0003-4018-1646"]},"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"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Kathleen E. Sullivan","raw_affiliation_strings":["Division of Allergy and Immunology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. sullivank@chop.edu","Division of Allergy and Immunology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA"],"raw_orcid":"https://orcid.org/0000-0003-4018-1646","affiliations":[{"raw_affiliation_string":"Division of Allergy and Immunology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. sullivank@chop.edu","institution_ids":["https://openalex.org/I1335321130"]},{"raw_affiliation_string":"Division of Allergy and Immunology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I1335321130"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5005713194"],"corresponding_institution_ids":["https://openalex.org/I1335321130"],"apc_list":{"value":3890,"currency":"USD","value_usd":3890},"apc_paid":{"value":3890,"currency":"USD","value_usd":3890},"fwci":1.3226,"has_fulltext":true,"cited_by_count":5,"citation_normalized_percentile":{"value":0.7702018,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":90,"max":97},"biblio":{"volume":"9","issue":"1","first_page":"5","last_page":"5"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11928","display_name":"Genetic Syndromes and Imprinting","score":0.9994999766349792,"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/T11928","display_name":"Genetic Syndromes and Imprinting","score":0.9994999766349792,"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":0.00019999999494757503,"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/T10269","display_name":"Epigenetics and DNA Methylation","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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/kagami-ogata-syndrome","display_name":"Kagami-Ogata syndrome","score":0.9909999966621399},{"id":"https://openalex.org/keywords/genomic-imprinting","display_name":"genomic imprinting","score":0.9850000143051147},{"id":"https://openalex.org/keywords/meg3","display_name":"MEG3","score":0.8389999866485596},{"id":"https://openalex.org/keywords/differentially-methylated-regions","display_name":"differentially methylated regions","score":0.8090000152587891},{"id":"https://openalex.org/keywords/small-deletions","display_name":"small deletions","score":0.4410000145435333},{"id":"https://openalex.org/keywords/long-read-sequencing","display_name":"long-read sequencing","score":0.8080000281333923},{"id":"https://openalex.org/keywords/methylation-microarrays","display_name":"methylation microarrays","score":0.7860000133514404},{"id":"https://openalex.org/keywords/uniparental-isodisomy","display_name":"uniparental isodisomy","score":0.8149999976158142},{"id":"https://openalex.org/keywords/epimutations","display_name":"epimutations","score":0.6159999966621399}],"concepts":[{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6881999969482422},{"id":"https://openalex.org/C94715292","wikidata":"https://www.wikidata.org/wiki/Q624349","display_name":"Imprinting (psychology)","level":3,"score":0.6792162656784058},{"id":"https://openalex.org/C201492766","wikidata":"https://www.wikidata.org/wiki/Q84087","display_name":"Genomic imprinting","level":5,"score":0.6790186762809753},{"id":"https://openalex.org/C2780332060","wikidata":"https://www.wikidata.org/wiki/Q1207929","display_name":"Uniparental disomy","level":5,"score":0.6027568578720093},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5999947190284729},{"id":"https://openalex.org/C41091548","wikidata":"https://www.wikidata.org/wiki/Q26939","display_name":"Epigenetics","level":3,"score":0.5892360806465149},{"id":"https://openalex.org/C84597430","wikidata":"https://www.wikidata.org/wiki/Q106227","display_name":"Locus (genetics)","level":3,"score":0.5705112814903259},{"id":"https://openalex.org/C120821319","wikidata":"https://www.wikidata.org/wiki/Q1501491","display_name":"Copy-number variation","level":4,"score":0.5129794478416443},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.4880310595035553},{"id":"https://openalex.org/C186836561","wikidata":"https://www.wikidata.org/wiki/Q1931516","display_name":"Microarray","level":4,"score":0.471352756023407},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.4121400713920593},{"id":"https://openalex.org/C190727270","wikidata":"https://www.wikidata.org/wiki/Q874745","display_name":"DNA methylation","level":4,"score":0.3748186230659485},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.25849249958992004},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.1841481626033783},{"id":"https://openalex.org/C53226629","wikidata":"https://www.wikidata.org/wiki/Q189967","display_name":"Karyotype","level":4,"score":0.09429582953453064},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.0},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.0}],"mesh":[],"locations_count":4,"locations":[{"id":"doi:10.1038/s41525-023-00389-2","doi":"https://doi.org/10.1038/s41525-023-00389-2","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s41525-023-00389-2","pdf_url":"https://www.nature.com/articles/s41525-023-00389-2.pdf","source":{"id":"https://openalex.org/S2737523697","display_name":"npj Genomic Medicine","issn_l":"2056-7944","issn":["2056-7944"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-1","norway-1","oarl","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319908","host_organization_name":"Nature Portfolio","host_organization_lineage":["https://openalex.org/P4310319908","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Nature Portfolio","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"npj Genomic Medicine","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:10784583","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/10784583","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC10784583/pdf/41525_2023_Article_389.pdf","source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"NPJ Genom Med","raw_type":"Text"},{"id":"pmid:38212313","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/38212313","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":"NPJ genomic medicine","raw_type":"Journal Article"},{"id":"pmh:oai:doaj.org/article:18c87511f1c04d91a6e404df341c6e2e","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/18c87511f1c04d91a6e404df341c6e2e","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"npj Genomic Medicine, Vol 9, Iss 1, Pp 1-6 (2024)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1038/s41525-023-00389-2","doi":"https://doi.org/10.1038/s41525-023-00389-2","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s41525-023-00389-2","pdf_url":"https://www.nature.com/articles/s41525-023-00389-2.pdf","source":{"id":"https://openalex.org/S2737523697","display_name":"npj Genomic Medicine","issn_l":"2056-7944","issn":["2056-7944"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-1","norway-1","oarl","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319908","host_organization_name":"Nature Portfolio","host_organization_lineage":["https://openalex.org/P4310319908","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Nature Portfolio","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"npj Genomic Medicine","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.7246000170707703,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[{"id":"https://openalex.org/G1663021542","display_name":"The Intellectual and Developmental Disabilities Research Center at CHOP/Penn","funder_award_id":"U54HD086984","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"},{"id":"https://openalex.org/G7433485449","display_name":null,"funder_award_id":"U01HG010219-04","funder_id":"https://openalex.org/F4320306080","funder_display_name":"Foundation for the National Institutes of Health"},{"id":"https://openalex.org/G746297307","display_name":"Undiagnosed diseases network clinical site","funder_award_id":"U01HG010219","funder_id":"https://openalex.org/F4320337348","funder_display_name":"National Human Genome Research Institute"}],"funders":[{"id":"https://openalex.org/F4320306080","display_name":"Foundation for the National Institutes of Health","ror":"https://ror.org/00k86s890"},{"id":"https://openalex.org/F4320309099","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48"},{"id":"https://openalex.org/F4320337348","display_name":"National Human Genome Research Institute","ror":"https://ror.org/00baak391"},{"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":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4390741414.pdf","grobid_xml":"https://content.openalex.org/works/W4390741414.grobid-xml"},"referenced_works_count":19,"referenced_works":["https://openalex.org/W1919257374","https://openalex.org/W1969670934","https://openalex.org/W2000519327","https://openalex.org/W2021341670","https://openalex.org/W2030111741","https://openalex.org/W2042794051","https://openalex.org/W2170210082","https://openalex.org/W2173045156","https://openalex.org/W2519713895","https://openalex.org/W2677538805","https://openalex.org/W2797730642","https://openalex.org/W2889664156","https://openalex.org/W2969823493","https://openalex.org/W3035684517","https://openalex.org/W3125072712","https://openalex.org/W3129363240","https://openalex.org/W3164633256","https://openalex.org/W4220951840","https://openalex.org/W4284960420"],"related_works":["https://openalex.org/W4377940652","https://openalex.org/W4291009292","https://openalex.org/W4290704145","https://openalex.org/W2463116663","https://openalex.org/W2996494361","https://openalex.org/W3093273774","https://openalex.org/W2892110459","https://openalex.org/W2229623083","https://openalex.org/W2479148540","https://openalex.org/W3126997194"],"abstract_inverted_index":{"Kagami-Ogata":[0,43,131],"syndrome":[1,44,132],"is":[2],"a":[3,40,64,72,100,120],"rare":[4],"imprinting":[5,140],"disorder":[6],"and":[7,45,63,80,92,125],"its":[8],"phenotypic":[9],"overlap":[10],"with":[11,42,50],"multiple":[12],"different":[13],"etiologies":[14,18],"hampers":[15],"diagnosis.":[16],"Genetic":[17],"include":[19],"paternal":[20],"uniparental":[21],"isodisomy":[22],"(upd(14)pat),":[23],"maternal":[24],"allele":[25],"deletions":[26],"of":[27,67,88,95,116,139],"differentially":[28],"methylated":[29],"regions":[30],"(DMR)":[31],"in":[32,99,108],"14q32.2":[33],"or":[34],"pure":[35],"primary":[36],"epimutations.":[37],"We":[38],"report":[39],"patient":[41],"an":[46],"atypical":[47],"diagnostic":[48,123],"odyssey":[49],"several":[51],"negative":[52],"standard-of-care":[53],"genetic":[54,111],"tests":[55],"followed":[56],"by":[57],"epigenetic":[58],"testing":[59,112],"using":[60],"methylation":[61],"microarray":[62],"targeted":[65],"analysis":[66],"whole-genome":[68],"sequencing":[69,83,118],"to":[70],"reveal":[71],"203":[73],"bp":[74],"deletion":[75,129],"involving":[76],"the":[77,85,89,96,106,109,114,126,137],"MEG3":[78],"transcript":[79],"MEG3:TSS-DMR.":[81],"Long-read":[82],"enabled":[84],"simultaneous":[86],"detection":[87],"deletion,":[90],"phasing,":[91],"biallelic":[93],"hypermethylation":[94],"MEG3:TSS-DMR":[97],"region":[98],"single":[101,121],"assay.":[102],"This":[103],"case":[104],"highlights":[105],"challenges":[107],"sequential":[110],"paradigm,":[113],"utility":[115],"long-read":[117],"as":[119],"comprehensive":[122],"assay,":[124],"smallest":[127],"reported":[128],"causing":[130],"allowing":[133],"important":[134],"insights":[135],"into":[136],"mechanism":[138],"effects":[141],"at":[142],"this":[143],"locus.":[144]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":3}],"updated_date":"2026-10-29T09:56:32.521200","created_date":"2024-01-13T00:00:00"}
