{"id":"https://openalex.org/W2162275615","doi":"https://doi.org/10.1007/s00439-014-1522-5","title":"Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5","display_name":"Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5","publication_year":2015,"publication_date":"2015-01-05","ids":{"openalex":"https://openalex.org/W2162275615","doi":"https://doi.org/10.1007/s00439-014-1522-5","mag":"2162275615","pmid":"https://pubmed.ncbi.nlm.nih.gov/25560765"},"language":"en","primary_location":{"id":"doi:10.1007/s00439-014-1522-5","doi":"https://doi.org/10.1007/s00439-014-1522-5","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s00439-014-1522-5","pdf_url":null,"source":{"id":"https://openalex.org/S199832308","display_name":"Human Genetics","issn_l":"0018-7348","issn":["0018-7348","0340-6717","1432-1203"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","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":"Human Genetics","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/A5087268876","display_name":"Daniella Magen","orcid":"https://orcid.org/0000-0001-8825-5259","observed_orcids":["https://orcid.org/0000-0001-8825-5259"]},"institutions":[{"id":"https://openalex.org/I174306211","display_name":"Technion \u2013 Israel Institute of Technology","ror":"https://ror.org/03qryx823","country_code":"IL","type":"education","lineage":["https://openalex.org/I174306211"]},{"id":"https://openalex.org/I2801301638","display_name":"Rambam Health Care Campus","ror":"https://ror.org/01fm87m50","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2801301638"]}],"countries":["IL"],"is_corresponding":true,"raw_author_name":"Daniella Magen","raw_affiliation_strings":["Pediatric Nephrology Institute, Rambam Health Care Campus, Haifa, Israel, danmag@tx.technion.ac.il","Pediatric Nephrology Institute, Rambam Health Care Campus, Haifa, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pediatric Nephrology Institute, Rambam Health Care Campus, Haifa, Israel, danmag@tx.technion.ac.il","institution_ids":["https://openalex.org/I174306211","https://openalex.org/I2801301638"]},{"raw_affiliation_string":"Pediatric Nephrology Institute, Rambam Health Care Campus, Haifa, Israel","institution_ids":["https://openalex.org/I2801301638"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5008648678","display_name":"Ayala Ofir","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I174306211","display_name":"Technion \u2013 Israel Institute of Technology","ror":"https://ror.org/03qryx823","country_code":"IL","type":"education","lineage":["https://openalex.org/I174306211"]},{"id":"https://openalex.org/I4210117163","display_name":"Rappaport Family Institute for Research in the Medical Sciences","ror":"https://ror.org/029hzjx43","country_code":"IL","type":"facility","lineage":["https://openalex.org/I4210117163"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Ayala Ofir","raw_affiliation_strings":["Laboratory of Molecular Medicine, the Rappaport Faculty of Medicine and Research Institute, Technion-Israel Institute of Technology, Haifa, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory of Molecular Medicine, the Rappaport Faculty of Medicine and Research Institute, Technion-Israel Institute of Technology, Haifa, Israel","institution_ids":["https://openalex.org/I174306211","https://openalex.org/I4210117163"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014182533","display_name":"Liron Berger","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I174306211","display_name":"Technion \u2013 Israel Institute of Technology","ror":"https://ror.org/03qryx823","country_code":"IL","type":"education","lineage":["https://openalex.org/I174306211"]},{"id":"https://openalex.org/I4210117163","display_name":"Rappaport Family Institute for Research in the Medical Sciences","ror":"https://ror.org/029hzjx43","country_code":"IL","type":"facility","lineage":["https://openalex.org/I4210117163"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Liron Berger","raw_affiliation_strings":["Laboratory of Molecular Medicine, the Rappaport Faculty of Medicine and Research Institute, Technion-Israel Institute of Technology, Haifa, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory of Molecular Medicine, the Rappaport Faculty of Medicine and Research Institute, Technion-Israel Institute of Technology, Haifa, Israel","institution_ids":["https://openalex.org/I174306211","https://openalex.org/I4210117163"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112144480","display_name":"Dorit Goldsher","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I174306211","display_name":"Technion \u2013 Israel Institute of Technology","ror":"https://ror.org/03qryx823","country_code":"IL","type":"education","lineage":["https://openalex.org/I174306211"]},{"id":"https://openalex.org/I2801301638","display_name":"Rambam Health Care Campus","ror":"https://ror.org/01fm87m50","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2801301638"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Dorit Goldsher","raw_affiliation_strings":["Department of Diagnostic Imaging, Rambam Health Care Campus, Haifa, Israel","The Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Diagnostic Imaging, Rambam Health Care Campus, Haifa, Israel","institution_ids":["https://openalex.org/I2801301638"]},{"raw_affiliation_string":"The Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel","institution_ids":["https://openalex.org/I174306211"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023779980","display_name":"Ayelet Eran","orcid":"https://orcid.org/0000-0003-1439-7881","observed_orcids":["https://orcid.org/0000-0003-1439-7881"]},"institutions":[{"id":"https://openalex.org/I174306211","display_name":"Technion \u2013 Israel Institute of Technology","ror":"https://ror.org/03qryx823","country_code":"IL","type":"education","lineage":["https://openalex.org/I174306211"]},{"id":"https://openalex.org/I2801301638","display_name":"Rambam Health Care Campus","ror":"https://ror.org/01fm87m50","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2801301638"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Ayelet Eran","raw_affiliation_strings":["Department of Diagnostic Imaging, Rambam Health Care Campus, Haifa, Israel","The Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Diagnostic Imaging, Rambam Health Care Campus, Haifa, Israel","institution_ids":["https://openalex.org/I2801301638"]},{"raw_affiliation_string":"The Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel","institution_ids":["https://openalex.org/I174306211"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5097831122","display_name":"Nassser Katib","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I64767286","display_name":"Clalit Health Services","ror":"https://ror.org/04zjvnp94","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I64767286"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Nassser Katib","raw_affiliation_strings":["Department of Family Medicine, Clalit Health Services, Ozer, Lower Galilee, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Family Medicine, Clalit Health Services, Ozer, Lower Galilee, Israel","institution_ids":["https://openalex.org/I64767286"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013260666","display_name":"Yousif Nijem","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2799893378","display_name":"Nazareth Hospital EMMS","ror":"https://ror.org/02a2hb496","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2799893378"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Yousif Nijem","raw_affiliation_strings":["Pediatric and Neonatal Unit, Nazareth Hospital EMMS, Nazareth, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pediatric and Neonatal Unit, Nazareth Hospital EMMS, Nazareth, Israel","institution_ids":["https://openalex.org/I2799893378"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080559727","display_name":"Euvgeni Vlodavsky","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I174306211","display_name":"Technion \u2013 Israel Institute of Technology","ror":"https://ror.org/03qryx823","country_code":"IL","type":"education","lineage":["https://openalex.org/I174306211"]},{"id":"https://openalex.org/I2801301638","display_name":"Rambam Health Care Campus","ror":"https://ror.org/01fm87m50","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2801301638"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Euvgeni Vlodavsky","raw_affiliation_strings":["Department of Pathology, Rambam Health Care Campus, Haifa, Israel","The Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology, Rambam Health Care Campus, Haifa, Israel","institution_ids":["https://openalex.org/I2801301638"]},{"raw_affiliation_string":"The Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel","institution_ids":["https://openalex.org/I174306211"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5097911120","display_name":"Shay Zur","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I174306211","display_name":"Technion \u2013 Israel Institute of Technology","ror":"https://ror.org/03qryx823","country_code":"IL","type":"education","lineage":["https://openalex.org/I174306211"]},{"id":"https://openalex.org/I4210117163","display_name":"Rappaport Family Institute for Research in the Medical Sciences","ror":"https://ror.org/029hzjx43","country_code":"IL","type":"facility","lineage":["https://openalex.org/I4210117163"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Shay Zur","raw_affiliation_strings":["Laboratory of Molecular Medicine, the Rappaport Faculty of Medicine and Research Institute, Technion-Israel Institute of Technology, Haifa, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory of Molecular Medicine, the Rappaport Faculty of Medicine and Research Institute, Technion-Israel Institute of Technology, Haifa, Israel","institution_ids":["https://openalex.org/I174306211","https://openalex.org/I4210117163"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5059150190","display_name":"Doron M. Behar","orcid":"https://orcid.org/0000-0002-2623-4599","observed_orcids":["https://orcid.org/0000-0002-2623-4599"]},"institutions":[{"id":"https://openalex.org/I174306211","display_name":"Technion \u2013 Israel Institute of Technology","ror":"https://ror.org/03qryx823","country_code":"IL","type":"education","lineage":["https://openalex.org/I174306211"]},{"id":"https://openalex.org/I4210117163","display_name":"Rappaport Family Institute for Research in the Medical Sciences","ror":"https://ror.org/029hzjx43","country_code":"IL","type":"facility","lineage":["https://openalex.org/I4210117163"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Doron M. Behar","raw_affiliation_strings":["Laboratory of Molecular Medicine, the Rappaport Faculty of Medicine and Research Institute, Technion-Israel Institute of Technology, Haifa, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory of Molecular Medicine, the Rappaport Faculty of Medicine and Research Institute, Technion-Israel Institute of Technology, Haifa, Israel","institution_ids":["https://openalex.org/I174306211","https://openalex.org/I4210117163"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016295694","display_name":"Yakov Fellig","orcid":"https://orcid.org/0009-0009-2715-8629","observed_orcids":["https://orcid.org/0009-0009-2715-8629"]},"institutions":[{"id":"https://openalex.org/I2799899409","display_name":"Hadassah Medical Center","ror":"https://ror.org/01cqmqj90","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2799899409"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Yakov Fellig","raw_affiliation_strings":["Department of Pathology, Hadassah Hebrew University Medical Center, Jerusalem, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology, Hadassah Hebrew University Medical Center, Jerusalem, Israel","institution_ids":["https://openalex.org/I2799899409"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5102999526","display_name":"Hanna Mandel","orcid":"https://orcid.org/0000-0002-5230-4247","observed_orcids":["https://orcid.org/0000-0002-5230-4247"]},"institutions":[{"id":"https://openalex.org/I174306211","display_name":"Technion \u2013 Israel Institute of Technology","ror":"https://ror.org/03qryx823","country_code":"IL","type":"education","lineage":["https://openalex.org/I174306211"]},{"id":"https://openalex.org/I2801301638","display_name":"Rambam Health Care Campus","ror":"https://ror.org/01fm87m50","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2801301638"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Hanna Mandel","raw_affiliation_strings":["Metabolic Unit, Rambam Health Care Campus, Haifa, Israel","The Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Metabolic Unit, Rambam Health Care Campus, Haifa, Israel","institution_ids":["https://openalex.org/I2801301638"]},{"raw_affiliation_string":"The Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel","institution_ids":["https://openalex.org/I174306211"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":6,"corresponding_author_ids":["https://openalex.org/A5087268876"],"corresponding_institution_ids":["https://openalex.org/I174306211","https://openalex.org/I2801301638"],"apc_list":{"value":3690,"currency":"USD","value_usd":3690},"apc_paid":null,"fwci":5.8413,"has_fulltext":false,"cited_by_count":72,"citation_normalized_percentile":{"value":0.96264323,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":93,"max":99},"biblio":{"volume":"134","issue":"3","first_page":"305","last_page":"314"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12552","display_name":"Fetal and Pediatric Neurological Disorders","score":0.8798999786376953,"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"}},"topics":[{"id":"https://openalex.org/T12552","display_name":"Fetal and Pediatric Neurological Disorders","score":0.8798999786376953,"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"}},{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.06459999829530716,"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":0.039799999445676804,"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/cdk5","display_name":"cyclin-dependent kinase 5","score":0.9929999709129333},{"id":"https://openalex.org/keywords/loss-of-function-variants","display_name":"loss-of-function mutations","score":0.8679999709129333},{"id":"https://openalex.org/keywords/splice-site-variant","display_name":"splice site mutation","score":0.8730000257492065},{"id":"https://openalex.org/keywords/exon-skipping","display_name":"exon skipping","score":0.8700000047683716},{"id":"https://openalex.org/keywords/frame-shift","display_name":"frame shift","score":0.6069999933242798},{"id":"https://openalex.org/keywords/homozygosity-mapping","display_name":"homozygosity mapping","score":0.8600000143051147},{"id":"https://openalex.org/keywords/consanguinity","display_name":"consanguinity","score":0.8740000128746033},{"id":"https://openalex.org/keywords/nonsense-mediated-mrna-decay","display_name":"nonsense-mediated mRNA decay","score":0.9359999895095825},{"id":"https://openalex.org/keywords/yeast-complementation","display_name":"yeast complementation","score":0.703000009059906},{"id":"https://openalex.org/keywords/conserved-motifs","display_name":"conserved motifs","score":0.8999999761581421},{"id":"https://openalex.org/keywords/conserved-function","display_name":"conserved function","score":0.9390000104904175},{"id":"https://openalex.org/keywords/conserved-binding-sites","display_name":"conserved binding sites","score":0.9470000267028809},{"id":"https://openalex.org/keywords/conserved-sequences","display_name":"conserved sequences","score":0.902999997138977},{"id":"https://openalex.org/keywords/conserved-domains","display_name":"conserved domains","score":0.9089999794960022}],"concepts":[{"id":"https://openalex.org/C2780698589","wikidata":"https://www.wikidata.org/wiki/Q1544416","display_name":"Lissencephaly","level":3,"score":0.8860280513763428},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.8610615134239197},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6343712210655212},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5750553607940674},{"id":"https://openalex.org/C96777560","wikidata":"https://www.wikidata.org/wiki/Q518638","display_name":"Nonsense mutation","level":5,"score":0.5597004294395447},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.4897027313709259},{"id":"https://openalex.org/C130895681","wikidata":"https://www.wikidata.org/wiki/Q5282122","display_name":"Disease gene identification","level":5,"score":0.4627191424369812},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.35137343406677246},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.24649015069007874},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.24456769227981567}],"mesh":[{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002478","descriptor_name":"Cells, Cultured","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002478","descriptor_name":"Cells, Cultured","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002478","descriptor_name":"Cells, Cultured","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002531","descriptor_name":"Cerebellum","qualifier_ui":"Q000002","qualifier_name":"abnormalities","is_major_topic":false},{"descriptor_ui":"D002531","descriptor_name":"Cerebellum","qualifier_ui":"Q000002","qualifier_name":"abnormalities","is_major_topic":false},{"descriptor_ui":"D002531","descriptor_name":"Cerebellum","qualifier_ui":"Q000002","qualifier_name":"abnormalities","is_major_topic":false},{"descriptor_ui":"D002531","descriptor_name":"Cerebellum","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D002531","descriptor_name":"Cerebellum","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D002531","descriptor_name":"Cerebellum","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D002658","descriptor_name":"Developmental Disabilities","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D002658","descriptor_name":"Developmental Disabilities","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D002658","descriptor_name":"Developmental Disabilities","qualifier_ui":"Q000201","qualifier_name":"enzymology","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":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D002658","descriptor_name":"Developmental Disabilities","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D003241","descriptor_name":"Consanguinity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003241","descriptor_name":"Consanguinity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003241","descriptor_name":"Consanguinity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","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":"D005260","descriptor_name":"Female","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":"D005808","descriptor_name":"Genes, Recessive","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005808","descriptor_name":"Genes, Recessive","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005808","descriptor_name":"Genes, Recessive","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005816","descriptor_name":"Genetic Complementation Test","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005816","descriptor_name":"Genetic Complementation Test","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005816","descriptor_name":"Genetic Complementation Test","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006720","descriptor_name":"Homozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006720","descriptor_name":"Homozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006720","descriptor_name":"Homozygote","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":"D006801","descriptor_name":"Humans","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":"D007223","descriptor_name":"Infant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007223","descriptor_name":"Infant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007223","descriptor_name":"Infant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007231","descriptor_name":"Infant, Newborn","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007231","descriptor_name":"Infant, Newborn","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007231","descriptor_name":"Infant, Newborn","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":"D008297","descriptor_name":"Male","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":"D009421","descriptor_name":"Nervous System Malformations","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D009421","descriptor_name":"Nervous System Malformations","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D009421","descriptor_name":"Nervous System Malformations","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D009421","descriptor_name":"Nervous System Malformations","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009421","descriptor_name":"Nervous System Malformations","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009421","descriptor_name":"Nervous System Malformations","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051360","descriptor_name":"Cyclin-Dependent Kinase 5","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D051360","descriptor_name":"Cyclin-Dependent Kinase 5","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D051360","descriptor_name":"Cyclin-Dependent Kinase 5","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D054082","descriptor_name":"Lissencephaly","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D054082","descriptor_name":"Lissencephaly","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D054082","descriptor_name":"Lissencephaly","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D054082","descriptor_name":"Lissencephaly","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D054082","descriptor_name":"Lissencephaly","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D054082","descriptor_name":"Lissencephaly","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D056726","descriptor_name":"Genetic Association Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056726","descriptor_name":"Genetic Association Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056726","descriptor_name":"Genetic Association Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1007/s00439-014-1522-5","doi":"https://doi.org/10.1007/s00439-014-1522-5","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s00439-014-1522-5","pdf_url":null,"source":{"id":"https://openalex.org/S199832308","display_name":"Human Genetics","issn_l":"0018-7348","issn":["0018-7348","0340-6717","1432-1203"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","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":"Human Genetics","raw_type":"journal-article"},{"id":"pmid:25560765","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/25560765","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":"Human genetics","raw_type":"Journal Article"},{"id":"pmid:25609191","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/25609191","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":"Human genetics","raw_type":"Published Erratum"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9476000070571899,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"sustainable_development_goals_aurora":[{"score":0.7099999785423279,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":39,"referenced_works":["https://openalex.org/W1914313496","https://openalex.org/W1943809043","https://openalex.org/W1977971438","https://openalex.org/W1986951078","https://openalex.org/W2010568596","https://openalex.org/W2018262243","https://openalex.org/W2021958350","https://openalex.org/W2023010330","https://openalex.org/W2028403872","https://openalex.org/W2031795385","https://openalex.org/W2037835429","https://openalex.org/W2042357077","https://openalex.org/W2049096290","https://openalex.org/W2055422828","https://openalex.org/W2061403614","https://openalex.org/W2061445259","https://openalex.org/W2067735942","https://openalex.org/W2070664595","https://openalex.org/W2073374817","https://openalex.org/W2079505152","https://openalex.org/W2090495610","https://openalex.org/W2097666362","https://openalex.org/W2100583455","https://openalex.org/W2107515023","https://openalex.org/W2109004041","https://openalex.org/W2120468693","https://openalex.org/W2123342169","https://openalex.org/W2128514286","https://openalex.org/W2129708696","https://openalex.org/W2131444337","https://openalex.org/W2134505334","https://openalex.org/W2134831330","https://openalex.org/W2137211311","https://openalex.org/W2138304538","https://openalex.org/W2156126807","https://openalex.org/W2161852533","https://openalex.org/W2165519289","https://openalex.org/W2288472123","https://openalex.org/W2804007336"],"related_works":["https://openalex.org/W2418014508","https://openalex.org/W2384494069","https://openalex.org/W4235834151","https://openalex.org/W2084461086","https://openalex.org/W1594308713","https://openalex.org/W2094181083","https://openalex.org/W2117782292","https://openalex.org/W2096690982","https://openalex.org/W2272212918","https://openalex.org/W2057562966"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":3},{"year":2025,"cited_by_count":5},{"year":2024,"cited_by_count":7},{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":10},{"year":2021,"cited_by_count":14},{"year":2020,"cited_by_count":7},{"year":2019,"cited_by_count":4},{"year":2018,"cited_by_count":9},{"year":2017,"cited_by_count":5},{"year":2016,"cited_by_count":2},{"year":2015,"cited_by_count":4}],"updated_date":"2026-10-10T09:11:00.788812","created_date":"2016-06-24T00:00:00"}