{"id":"https://openalex.org/W2807737986","doi":"https://doi.org/10.1101/mcs.a003145","title":"9p24 triplication in syndromic hydrocephalus with diffuse villous hyperplasia of the choroid plexus","display_name":"9p24 triplication in syndromic hydrocephalus with diffuse villous hyperplasia of the choroid plexus","publication_year":2018,"publication_date":"2018-06-12","ids":{"openalex":"https://openalex.org/W2807737986","doi":"https://doi.org/10.1101/mcs.a003145","mag":"2807737986","pmid":"https://pubmed.ncbi.nlm.nih.gov/29895553","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/6169828"},"language":"en","primary_location":{"id":"doi:10.1101/mcs.a003145","doi":"https://doi.org/10.1101/mcs.a003145","is_oa":true,"landing_page_url":"https://doi.org/10.1101/mcs.a003145","pdf_url":"http://molecularcasestudies.cshlp.org/content/4/5/a003145.full.pdf","source":{"id":"https://openalex.org/S4210220596","display_name":"Molecular Case Studies","issn_l":"2373-2865","issn":["2373-2865","2373-2873"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","jufo-1","ki-jl-1","norway-1","poland-70","russia-white-list-1"],"host_organization":"https://openalex.org/P4310315909","host_organization_name":"Cold Spring Harbor Laboratory Press","host_organization_lineage":["https://openalex.org/P4310315909"],"host_organization_lineage_names":["Cold Spring Harbor Laboratory Press"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular Case Studies","raw_type":"journal-article"},"volume":null,"type":"preprint","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"diamond","oa_url":"http://molecularcasestudies.cshlp.org/content/4/5/a003145.full.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5074110191","display_name":"Charuta Gavankar Furey","orcid":"https://orcid.org/0000-0003-3313-2563","observed_orcids":["https://orcid.org/0000-0003-3313-2563"]},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Charuta Furey","raw_affiliation_strings":["Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06510, USA","Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut 06510, USA","1Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06510, USA","2Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut 06510, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06510, USA","institution_ids":["https://openalex.org/I32971472"]},{"raw_affiliation_string":"Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut 06510, USA","institution_ids":["https://openalex.org/I32971472"]},{"raw_affiliation_string":"1Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06510, USA","institution_ids":["https://openalex.org/I32971472"]},{"raw_affiliation_string":"2Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut 06510, USA","institution_ids":["https://openalex.org/I32971472"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5049925288","display_name":"Prince Antwi","orcid":"https://orcid.org/0000-0002-6076-2600","observed_orcids":["https://orcid.org/0000-0002-6076-2600"]},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Prince Antwi","raw_affiliation_strings":["Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut 06510, USA","2Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut 06510, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut 06510, USA","institution_ids":["https://openalex.org/I32971472"]},{"raw_affiliation_string":"2Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut 06510, USA","institution_ids":["https://openalex.org/I32971472"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5004827243","display_name":"Daniel Dur\u00e1n","orcid":"https://orcid.org/0000-0001-6888-252X","observed_orcids":["https://orcid.org/0000-0001-6888-252X"]},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Daniel Duran","raw_affiliation_strings":["Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06510, USA","Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut 06510, USA","1Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06510, USA","2Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut 06510, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06510, USA","institution_ids":["https://openalex.org/I32971472"]},{"raw_affiliation_string":"Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut 06510, USA","institution_ids":["https://openalex.org/I32971472"]},{"raw_affiliation_string":"1Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06510, USA","institution_ids":["https://openalex.org/I32971472"]},{"raw_affiliation_string":"2Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut 06510, USA","institution_ids":["https://openalex.org/I32971472"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5008027998","display_name":"Andrew T. Timberlake","orcid":"https://orcid.org/0000-0002-8926-9692","observed_orcids":["https://orcid.org/0000-0002-8926-9692"]},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Andrew T. Timberlake","raw_affiliation_strings":["Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06510, USA","Department of Surgery, Section of Plastic and Reconstructive Surgery, Yale University School of Medicine, New Haven, Connecticut 06510, USA","1Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06510, USA","3Department of Surgery, Section of Plastic and Reconstructive Surgery, Yale University School of Medicine, New Haven, Connecticut 06510, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06510, USA","institution_ids":["https://openalex.org/I32971472"]},{"raw_affiliation_string":"Department of Surgery, Section of Plastic and Reconstructive Surgery, Yale University School of Medicine, New Haven, Connecticut 06510, USA","institution_ids":["https://openalex.org/I32971472"]},{"raw_affiliation_string":"1Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06510, USA","institution_ids":["https://openalex.org/I32971472"]},{"raw_affiliation_string":"3Department of Surgery, Section of Plastic and Reconstructive Surgery, Yale University School of Medicine, New Haven, Connecticut 06510, USA","institution_ids":["https://openalex.org/I32971472"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5034442407","display_name":"Carol J. Nelson-Williams","orcid":"https://orcid.org/0000-0003-0768-4751","observed_orcids":["https://orcid.org/0000-0003-0768-4751"]},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Carol Nelson-Williams","raw_affiliation_strings":["Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06510, USA","1Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06510, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06510, USA","institution_ids":["https://openalex.org/I32971472"]},{"raw_affiliation_string":"1Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06510, USA","institution_ids":["https://openalex.org/I32971472"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5089032910","display_name":"Charles Christian Matouk","orcid":"https://orcid.org/0000-0003-3234-9541","observed_orcids":["https://orcid.org/0000-0003-3234-9541"]},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Charles C. Matouk","raw_affiliation_strings":["Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut 06510, USA","2Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut 06510, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut 06510, USA","institution_ids":["https://openalex.org/I32971472"]},{"raw_affiliation_string":"2Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut 06510, USA","institution_ids":["https://openalex.org/I32971472"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5044932231","display_name":"Michael L. DiLuna","orcid":"https://orcid.org/0000-0002-6896-3837","observed_orcids":["https://orcid.org/0000-0002-6896-3837"]},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Michael L. DiLuna","raw_affiliation_strings":["Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut 06510, USA","Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut 06510, USA","2Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut 06510, USA","4Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut 06510, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut 06510, USA","institution_ids":["https://openalex.org/I32971472"]},{"raw_affiliation_string":"Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut 06510, USA","institution_ids":["https://openalex.org/I32971472"]},{"raw_affiliation_string":"2Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut 06510, USA","institution_ids":["https://openalex.org/I32971472"]},{"raw_affiliation_string":"4Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut 06510, USA","institution_ids":["https://openalex.org/I32971472"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013113053","display_name":"Murat G\u00fcnel","orcid":"https://orcid.org/0000-0002-2290-7055","observed_orcids":["https://orcid.org/0000-0002-2290-7055","https://orcid.org/0000-0003-3481-2026"]},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Murat G\u00fcnel","raw_affiliation_strings":["Department of Cellular and Molecular Physiology, Yale University School of Medicine, New Haven, Connecticut 06510, USA","Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06510, USA","Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut 06510, USA","1Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06510, USA","2Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut 06510, USA","5Department of Cellular and Molecular Physiology, Yale University School of Medicine, New Haven, Connecticut 06510, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cellular and Molecular Physiology, Yale University School of Medicine, New Haven, Connecticut 06510, USA","institution_ids":["https://openalex.org/I32971472"]},{"raw_affiliation_string":"Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06510, USA","institution_ids":["https://openalex.org/I32971472"]},{"raw_affiliation_string":"Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut 06510, USA","institution_ids":["https://openalex.org/I32971472"]},{"raw_affiliation_string":"1Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06510, USA","institution_ids":["https://openalex.org/I32971472"]},{"raw_affiliation_string":"2Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut 06510, USA","institution_ids":["https://openalex.org/I32971472"]},{"raw_affiliation_string":"5Department of Cellular and Molecular Physiology, Yale University School of Medicine, New Haven, Connecticut 06510, USA","institution_ids":["https://openalex.org/I32971472"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5058936141","display_name":"Kristopher Thomas Kahle","orcid":"https://orcid.org/0000-0002-5922-7547","observed_orcids":["https://orcid.org/0000-0002-5922-7547"]},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kristopher T. Kahle","raw_affiliation_strings":["Department of Cellular and Molecular Physiology, Yale University School of Medicine, New Haven, Connecticut 06510, USA","Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06510, USA","Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut 06510, USA","Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut 06510, USA","1Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06510, USA","2Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut 06510, USA","4Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut 06510, USA","5Department of Cellular and Molecular Physiology, Yale University School of Medicine, New Haven, Connecticut 06510, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cellular and Molecular Physiology, Yale University School of Medicine, New Haven, Connecticut 06510, USA","institution_ids":["https://openalex.org/I32971472"]},{"raw_affiliation_string":"Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06510, USA","institution_ids":["https://openalex.org/I32971472"]},{"raw_affiliation_string":"Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut 06510, USA","institution_ids":["https://openalex.org/I32971472"]},{"raw_affiliation_string":"Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut 06510, USA","institution_ids":["https://openalex.org/I32971472"]},{"raw_affiliation_string":"1Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06510, USA","institution_ids":["https://openalex.org/I32971472"]},{"raw_affiliation_string":"2Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut 06510, USA","institution_ids":["https://openalex.org/I32971472"]},{"raw_affiliation_string":"4Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut 06510, USA","institution_ids":["https://openalex.org/I32971472"]},{"raw_affiliation_string":"5Department of Cellular and Molecular Physiology, Yale University School of Medicine, New Haven, Connecticut 06510, USA","institution_ids":["https://openalex.org/I32971472"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I32971472"],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":true,"cited_by_count":9,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":"4","issue":"5","first_page":"a003145","last_page":"a003145"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11406","display_name":"Cerebrospinal fluid and hydrocephalus","score":0.989300012588501,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11406","display_name":"Cerebrospinal fluid and hydrocephalus","score":0.989300012588501,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.005400000140070915,"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/T12552","display_name":"Fetal and Pediatric Neurological Disorders","score":0.0017000000225380063,"subfield":{"id":"https://openalex.org/subfields/2735","display_name":"Pediatrics, Perinatology and Child Health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/choroid-plexus","display_name":"choroid plexus","score":0.7620000243186951}],"concepts":[{"id":"https://openalex.org/C2776538271","wikidata":"https://www.wikidata.org/wiki/Q926250","display_name":"Choroid plexus","level":3,"score":0.8414133787155151},{"id":"https://openalex.org/C2778134817","wikidata":"https://www.wikidata.org/wiki/Q193003","display_name":"Hydrocephalus","level":2,"score":0.8094930052757263},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6521170139312744},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.5915617346763611},{"id":"https://openalex.org/C2779343474","wikidata":"https://www.wikidata.org/wiki/Q3109175","display_name":"Context (archaeology)","level":2,"score":0.5684256553649902},{"id":"https://openalex.org/C2779651940","wikidata":"https://www.wikidata.org/wiki/Q54196","display_name":"Cerebrospinal fluid","level":2,"score":0.5589181184768677},{"id":"https://openalex.org/C2780942790","wikidata":"https://www.wikidata.org/wiki/Q372016","display_name":"Pathogenesis","level":2,"score":0.5210637450218201},{"id":"https://openalex.org/C207886595","wikidata":"https://www.wikidata.org/wiki/Q1456138","display_name":"Pathological","level":2,"score":0.5083207488059998},{"id":"https://openalex.org/C2777562237","wikidata":"https://www.wikidata.org/wiki/Q835051","display_name":"Hyperplasia","level":2,"score":0.48125168681144714},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.18414604663848877},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.16868171095848083},{"id":"https://openalex.org/C126838900","wikidata":"https://www.wikidata.org/wiki/Q77604","display_name":"Radiology","level":1,"score":0.13758417963981628},{"id":"https://openalex.org/C529278444","wikidata":"https://www.wikidata.org/wiki/Q47273","display_name":"Central nervous system","level":2,"score":0.08183369040489197},{"id":"https://openalex.org/C151730666","wikidata":"https://www.wikidata.org/wiki/Q7205","display_name":"Paleontology","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D002557","descriptor_name":"Cerebrospinal Fluid Shunts","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002831","descriptor_name":"Choroid Plexus","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D002899","descriptor_name":"Chromosomes, Human, Pair 9","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006849","descriptor_name":"Hydrocephalus","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006965","descriptor_name":"Hyperplasia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D007223","descriptor_name":"Infant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008279","descriptor_name":"Magnetic Resonance Imaging","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":"D014057","descriptor_name":"Tomography, X-Ray Computed","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020440","descriptor_name":"Gene Duplication","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020547","descriptor_name":"Lateral Ventricles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1101/mcs.a003145","doi":"https://doi.org/10.1101/mcs.a003145","is_oa":true,"landing_page_url":"https://doi.org/10.1101/mcs.a003145","pdf_url":"http://molecularcasestudies.cshlp.org/content/4/5/a003145.full.pdf","source":{"id":"https://openalex.org/S4210220596","display_name":"Molecular Case Studies","issn_l":"2373-2865","issn":["2373-2865","2373-2873"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","jufo-1","ki-jl-1","norway-1","poland-70","russia-white-list-1"],"host_organization":"https://openalex.org/P4310315909","host_organization_name":"Cold Spring Harbor Laboratory Press","host_organization_lineage":["https://openalex.org/P4310315909"],"host_organization_lineage_names":["Cold Spring Harbor Laboratory Press"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular Case Studies","raw_type":"journal-article"},{"id":"pmh:oai:europepmc.org:5131584","doi":null,"is_oa":true,"landing_page_url":"http://europepmc.org/pmc/articles/PMC6169828","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"","raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:6169828","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/6169828","pdf_url":null,"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-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Cold Spring Harb Mol Case Stud","raw_type":"Text"},{"id":"pmid:29895553","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/29895553","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":"Cold Spring Harbor molecular case studies","raw_type":"Case Reports"}],"best_oa_location":{"id":"doi:10.1101/mcs.a003145","doi":"https://doi.org/10.1101/mcs.a003145","is_oa":true,"landing_page_url":"https://doi.org/10.1101/mcs.a003145","pdf_url":"http://molecularcasestudies.cshlp.org/content/4/5/a003145.full.pdf","source":{"id":"https://openalex.org/S4210220596","display_name":"Molecular Case Studies","issn_l":"2373-2865","issn":["2373-2865","2373-2873"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","jufo-1","ki-jl-1","norway-1","poland-70","russia-white-list-1"],"host_organization":"https://openalex.org/P4310315909","host_organization_name":"Cold Spring Harbor Laboratory Press","host_organization_lineage":["https://openalex.org/P4310315909"],"host_organization_lineage_names":["Cold Spring Harbor Laboratory Press"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular Case Studies","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.9537000060081482,"display_name":"Good health and well-being","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/G5684704359","display_name":"High Performance Computing Instrumentation for the Yale Center for Genome Analysi","funder_award_id":"1s10od018521-01","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G8608510567","display_name":"High Performance Computing Instrumentation for the Yale Center for Genome Analysis","funder_award_id":"1s10od030363-01a1","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"}],"funders":[{"id":"https://openalex.org/F4320306182","display_name":"March of Dimes Foundation","ror":"https://ror.org/04bd5p711"},{"id":"https://openalex.org/F4320316438","display_name":"Georgia Clinical and Translational Science Alliance","ror":"https://ror.org/034hw7m59"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2807737986.pdf","grobid_xml":"https://content.openalex.org/works/W2807737986.grobid-xml"},"referenced_works_count":68,"referenced_works":["https://openalex.org/W9086048","https://openalex.org/W1106124941","https://openalex.org/W1514076436","https://openalex.org/W1515993734","https://openalex.org/W1649091242","https://openalex.org/W1793556073","https://openalex.org/W1797201016","https://openalex.org/W1845889710","https://openalex.org/W1855302692","https://openalex.org/W1899732990","https://openalex.org/W1919257374","https://openalex.org/W1957793353","https://openalex.org/W1980740976","https://openalex.org/W1981289757","https://openalex.org/W1984068087","https://openalex.org/W1987722665","https://openalex.org/W1991481290","https://openalex.org/W1993041070","https://openalex.org/W1993890839","https://openalex.org/W2015115312","https://openalex.org/W2026513362","https://openalex.org/W2027645638","https://openalex.org/W2032036886","https://openalex.org/W2038924056","https://openalex.org/W2039793422","https://openalex.org/W2044405723","https://openalex.org/W2046094677","https://openalex.org/W2048820413","https://openalex.org/W2053550051","https://openalex.org/W2059145105","https://openalex.org/W2060102235","https://openalex.org/W2061233807","https://openalex.org/W2062163141","https://openalex.org/W2068107470","https://openalex.org/W2069995392","https://openalex.org/W2074085388","https://openalex.org/W2076357933","https://openalex.org/W2078424863","https://openalex.org/W2078621540","https://openalex.org/W2082664913","https://openalex.org/W2086852348","https://openalex.org/W2092617947","https://openalex.org/W2094233025","https://openalex.org/W2103441770","https://openalex.org/W2104507509","https://openalex.org/W2104549677","https://openalex.org/W2111326065","https://openalex.org/W2119180969","https://openalex.org/W2122732537","https://openalex.org/W2129952088","https://openalex.org/W2138334412","https://openalex.org/W2143238378","https://openalex.org/W2145187337","https://openalex.org/W2146973661","https://openalex.org/W2153010521","https://openalex.org/W2160995259","https://openalex.org/W2161633633","https://openalex.org/W2168133698","https://openalex.org/W2168568223","https://openalex.org/W2256016639","https://openalex.org/W2322270494","https://openalex.org/W2517075843","https://openalex.org/W2530137271","https://openalex.org/W2547067106","https://openalex.org/W2737795564","https://openalex.org/W2740099763","https://openalex.org/W2755763142","https://openalex.org/W2800040558"],"related_works":["https://openalex.org/W1649091242","https://openalex.org/W4382793528","https://openalex.org/W2800040558","https://openalex.org/W2939079361","https://openalex.org/W3033164661","https://openalex.org/W2078424863","https://openalex.org/W2763180327","https://openalex.org/W4281634893","https://openalex.org/W2061233807","https://openalex.org/W1793556073"],"abstract_inverted_index":{"Hydrocephalus,":[0],"a":[1,48,74,83],"disorder":[2],"of":[3,24,30,34,51,53,98,109,113,119],"impaired":[4],"cerebrospinal":[5],"fluid":[6],"(CSF)":[7],"homeostasis,":[8],"often":[9],"results":[10],"from":[11],"an":[12],"imbalance":[13],"between":[14],"CSF":[15,25],"production":[16],"and":[17,87,95],"reabsorption.":[18],"Rarely,":[19],"hydrocephalus":[20,78,123],"is":[21],"the":[22,28,35,60,92,110,117],"consequence":[23],"hypersecretion":[26],"in":[27,43,56,64],"context":[29],"diffuse":[31],"villous":[32],"hyperplasia":[33],"choroid":[36],"plexus":[37],"(DVHCP).":[38],"The":[39],"limited":[40],"genetic":[41,111],"information":[42],"previously":[44],"reported":[45],"cases":[46],"suggests":[47],"high":[49],"prevalence":[50],"gains":[52],"Chromosome":[54],"9p":[55],"this":[57],"disease,":[58],"although":[59],"critical":[61],"genes":[62],"involved":[63],"DVHCP":[65,80,114],"pathogenesis":[66],"have":[67],"not":[68],"been":[69],"identified.":[70],"Here,":[71],"we":[72],"report":[73],"patient":[75],"with":[76,79,82],"syndromic":[77],"associated":[81],"novel":[84],"9p24.3-11.2":[85],"triplication":[86],"15q13.2-q13.3":[88],"microdeletion.":[89],"We":[90],"review":[91],"clinical,":[93],"radiological,":[94],"pathological":[96],"features":[97],"DVHCP,":[99],"as":[100,102],"well":[101],"its":[103],"surgical":[104],"management.":[105],"A":[106],"better":[107],"understanding":[108],"basis":[112],"could":[115],"spur":[116],"development":[118],"rational,":[120],"targeted":[121],"nonsurgical":[122],"treatments.":[124]},"counts_by_year":[{"year":2024,"cited_by_count":2},{"year":2023,"cited_by_count":4},{"year":2022,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2018-06-21T00:00:00"}