{"id":"https://openalex.org/W2079701909","doi":"https://doi.org/10.1038/ng.2329","title":"De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly","display_name":"De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly","publication_year":2012,"publication_date":"2012-06-24","ids":{"openalex":"https://openalex.org/W2079701909","doi":"https://doi.org/10.1038/ng.2329","mag":"2079701909","pmid":"https://pubmed.ncbi.nlm.nih.gov/22729223","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/4417942"},"language":"en","primary_location":{"id":"doi:10.1038/ng.2329","doi":"https://doi.org/10.1038/ng.2329","is_oa":false,"landing_page_url":"https://doi.org/10.1038/ng.2329","pdf_url":null,"source":{"id":"https://openalex.org/S137905309","display_name":"Nature Genetics","issn_l":"1061-4036","issn":["1061-4036","1546-1718"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nature Genetics","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4417942","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5100366264","display_name":"Jeong Ho Lee","orcid":"https://orcid.org/0000-0002-2299-630X","observed_orcids":["https://orcid.org/0000-0002-2299-630X","https://orcid.org/0000-0001-7248-3214"]},"institutions":[{"id":"https://openalex.org/I36258959","display_name":"University of California San Diego","ror":"https://ror.org/0168r3w48","country_code":"US","type":"education","lineage":["https://openalex.org/I36258959"]},{"id":"https://openalex.org/I4210087384","display_name":"Rady Children's Hospital-San Diego","ror":"https://ror.org/00414dg76","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087384"]},{"id":"https://openalex.org/I4405267242","display_name":"Rady Children's Institute for Genomic Medicine","ror":"https://ror.org/01v97x551","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4405267242"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jeong Ho Lee","raw_affiliation_strings":["Institute for Genomic Medicine, Rady Children's Hospital, University of California, San Diego, La Jolla, California, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute for Genomic Medicine, Rady Children's Hospital, University of California, San Diego, La Jolla, California, USA","institution_ids":["https://openalex.org/I36258959","https://openalex.org/I4210087384","https://openalex.org/I4405267242"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111826442","display_name":"My N. Huynh","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I161318765","display_name":"University of California, Los Angeles","ror":"https://ror.org/046rm7j60","country_code":"US","type":"education","lineage":["https://openalex.org/I161318765"]},{"id":"https://openalex.org/I4210134385","display_name":"Mattel Children's Hospital","ror":"https://ror.org/04p5baq95","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2799798094","https://openalex.org/I4210134385"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"My Huynh","raw_affiliation_strings":["Department of Neurosurgery, Mattel Children's Hospital, David Geffen School of Medicine, University of California, Los Angeles, California, USA","Department of Psychiatry and Biobehavioral Sciences, Mattel Children's Hospital, David Geffen School of Medicine, University of California, Los Angeles, California, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurosurgery, Mattel Children's Hospital, David Geffen School of Medicine, University of California, Los Angeles, California, USA","institution_ids":["https://openalex.org/I161318765","https://openalex.org/I4210134385"]},{"raw_affiliation_string":"Department of Psychiatry and Biobehavioral Sciences, Mattel Children's Hospital, David Geffen School of Medicine, University of California, Los Angeles, California, USA","institution_ids":["https://openalex.org/I161318765","https://openalex.org/I4210134385"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108610447","display_name":"Jennifer L. Silhavy","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1344073410","display_name":"Howard Hughes Medical Institute","ror":"https://ror.org/006w34k90","country_code":"US","type":"facility","lineage":["https://openalex.org/I1344073410"]},{"id":"https://openalex.org/I36258959","display_name":"University of California San Diego","ror":"https://ror.org/0168r3w48","country_code":"US","type":"education","lineage":["https://openalex.org/I36258959"]},{"id":"https://openalex.org/I4210087384","display_name":"Rady Children's Hospital-San Diego","ror":"https://ror.org/00414dg76","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087384"]},{"id":"https://openalex.org/I4405267242","display_name":"Rady Children's Institute for Genomic Medicine","ror":"https://ror.org/01v97x551","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4405267242"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jennifer L Silhavy","raw_affiliation_strings":["Howard Hughes Medical Institute, Chevy Chase, Maryland, USA","Institute for Genomic Medicine, Rady Children's Hospital, University of California, San Diego, La Jolla, California, USA.,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Howard Hughes Medical Institute, Chevy Chase, Maryland, USA","institution_ids":["https://openalex.org/I1344073410"]},{"raw_affiliation_string":"Institute for Genomic Medicine, Rady Children's Hospital, University of California, San Diego, La Jolla, California, USA.,","institution_ids":["https://openalex.org/I36258959","https://openalex.org/I4210087384","https://openalex.org/I4405267242"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100452154","display_name":"Sangwoo Kim","orcid":"https://orcid.org/0000-0001-5356-0827","observed_orcids":["https://orcid.org/0000-0001-5356-0827","https://orcid.org/0009-0009-8380-631X"]},"institutions":[{"id":"https://openalex.org/I36258959","display_name":"University of California San Diego","ror":"https://ror.org/0168r3w48","country_code":"US","type":"education","lineage":["https://openalex.org/I36258959"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Sangwoo Kim","raw_affiliation_strings":["Department of Computer Sciences, School of Engineering, University of California, San Diego, La Jolla, California, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Computer Sciences, School of Engineering, University of California, San Diego, La Jolla, California, USA","institution_ids":["https://openalex.org/I36258959"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5011266080","display_name":"Tracy Dixon\u2010Salazar","orcid":"https://orcid.org/0000-0002-7801-1741","observed_orcids":["https://orcid.org/0000-0002-7801-1741"]},"institutions":[{"id":"https://openalex.org/I1344073410","display_name":"Howard Hughes Medical Institute","ror":"https://ror.org/006w34k90","country_code":"US","type":"facility","lineage":["https://openalex.org/I1344073410"]},{"id":"https://openalex.org/I36258959","display_name":"University of California San Diego","ror":"https://ror.org/0168r3w48","country_code":"US","type":"education","lineage":["https://openalex.org/I36258959"]},{"id":"https://openalex.org/I4210087384","display_name":"Rady Children's Hospital-San Diego","ror":"https://ror.org/00414dg76","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087384"]},{"id":"https://openalex.org/I4405267242","display_name":"Rady Children's Institute for Genomic Medicine","ror":"https://ror.org/01v97x551","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4405267242"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Tracy Dixon-Salazar","raw_affiliation_strings":["Howard Hughes Medical Institute, Chevy Chase, Maryland, USA","Institute for Genomic Medicine, Rady Children's Hospital, University of California, San Diego, La Jolla, California, USA.,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Howard Hughes Medical Institute, Chevy Chase, Maryland, USA","institution_ids":["https://openalex.org/I1344073410"]},{"raw_affiliation_string":"Institute for Genomic Medicine, Rady Children's Hospital, University of California, San Diego, La Jolla, California, USA.,","institution_ids":["https://openalex.org/I36258959","https://openalex.org/I4210087384","https://openalex.org/I4405267242"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5029175321","display_name":"Andrew Heiberg","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1344073410","display_name":"Howard Hughes Medical Institute","ror":"https://ror.org/006w34k90","country_code":"US","type":"facility","lineage":["https://openalex.org/I1344073410"]},{"id":"https://openalex.org/I36258959","display_name":"University of California San Diego","ror":"https://ror.org/0168r3w48","country_code":"US","type":"education","lineage":["https://openalex.org/I36258959"]},{"id":"https://openalex.org/I4210087384","display_name":"Rady Children's Hospital-San Diego","ror":"https://ror.org/00414dg76","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087384"]},{"id":"https://openalex.org/I4405267242","display_name":"Rady Children's Institute for Genomic Medicine","ror":"https://ror.org/01v97x551","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4405267242"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Andrew Heiberg","raw_affiliation_strings":["Howard Hughes Medical Institute, Chevy Chase, Maryland, USA","Institute for Genomic Medicine, Rady Children's Hospital, University of California, San Diego, La Jolla, California, USA.,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Howard Hughes Medical Institute, Chevy Chase, Maryland, USA","institution_ids":["https://openalex.org/I1344073410"]},{"raw_affiliation_string":"Institute for Genomic Medicine, Rady Children's Hospital, University of California, San Diego, La Jolla, California, USA.,","institution_ids":["https://openalex.org/I36258959","https://openalex.org/I4210087384","https://openalex.org/I4405267242"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5056526906","display_name":"Eric Scott","orcid":"https://orcid.org/0000-0001-7301-0152","observed_orcids":["https://orcid.org/0000-0001-7301-0152","https://orcid.org/0000-0002-2730-0893"]},"institutions":[{"id":"https://openalex.org/I1344073410","display_name":"Howard Hughes Medical Institute","ror":"https://ror.org/006w34k90","country_code":"US","type":"facility","lineage":["https://openalex.org/I1344073410"]},{"id":"https://openalex.org/I36258959","display_name":"University of California San Diego","ror":"https://ror.org/0168r3w48","country_code":"US","type":"education","lineage":["https://openalex.org/I36258959"]},{"id":"https://openalex.org/I4210087384","display_name":"Rady Children's Hospital-San Diego","ror":"https://ror.org/00414dg76","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087384"]},{"id":"https://openalex.org/I4405267242","display_name":"Rady Children's Institute for Genomic Medicine","ror":"https://ror.org/01v97x551","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4405267242"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Eric Scott","raw_affiliation_strings":["Howard Hughes Medical Institute, Chevy Chase, Maryland, USA","Institute for Genomic Medicine, Rady Children's Hospital, University of California, San Diego, La Jolla, California, USA.,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Howard Hughes Medical Institute, Chevy Chase, Maryland, USA","institution_ids":["https://openalex.org/I1344073410"]},{"raw_affiliation_string":"Institute for Genomic Medicine, Rady Children's Hospital, University of California, San Diego, La Jolla, California, USA.,","institution_ids":["https://openalex.org/I36258959","https://openalex.org/I4210087384","https://openalex.org/I4405267242"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5028801735","display_name":"Vineet Bafna","orcid":"https://orcid.org/0000-0002-5810-6241","observed_orcids":["https://orcid.org/0000-0002-5810-6241"]},"institutions":[{"id":"https://openalex.org/I36258959","display_name":"University of California San Diego","ror":"https://ror.org/0168r3w48","country_code":"US","type":"education","lineage":["https://openalex.org/I36258959"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Vineet Bafna","raw_affiliation_strings":["Department of Computer Sciences, School of Engineering, University of California, San Diego, La Jolla, California, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Computer Sciences, School of Engineering, University of California, San Diego, La Jolla, California, USA","institution_ids":["https://openalex.org/I36258959"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5040547375","display_name":"Kiley J. Hill","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1344073410","display_name":"Howard Hughes Medical Institute","ror":"https://ror.org/006w34k90","country_code":"US","type":"facility","lineage":["https://openalex.org/I1344073410"]},{"id":"https://openalex.org/I36258959","display_name":"University of California San Diego","ror":"https://ror.org/0168r3w48","country_code":"US","type":"education","lineage":["https://openalex.org/I36258959"]},{"id":"https://openalex.org/I4210087384","display_name":"Rady Children's Hospital-San Diego","ror":"https://ror.org/00414dg76","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087384"]},{"id":"https://openalex.org/I4405267242","display_name":"Rady Children's Institute for Genomic Medicine","ror":"https://ror.org/01v97x551","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4405267242"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kiley J Hill","raw_affiliation_strings":["Howard Hughes Medical Institute, Chevy Chase, Maryland, USA","Institute for Genomic Medicine, Rady Children's Hospital, University of California, San Diego, La Jolla, California, USA.,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Howard Hughes Medical Institute, Chevy Chase, Maryland, USA","institution_ids":["https://openalex.org/I1344073410"]},{"raw_affiliation_string":"Institute for Genomic Medicine, Rady Children's Hospital, University of California, San Diego, La Jolla, California, USA.,","institution_ids":["https://openalex.org/I36258959","https://openalex.org/I4210087384","https://openalex.org/I4405267242"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5045156823","display_name":"Adrienne Elena Collazo","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1344073410","display_name":"Howard Hughes Medical Institute","ror":"https://ror.org/006w34k90","country_code":"US","type":"facility","lineage":["https://openalex.org/I1344073410"]},{"id":"https://openalex.org/I36258959","display_name":"University of California San Diego","ror":"https://ror.org/0168r3w48","country_code":"US","type":"education","lineage":["https://openalex.org/I36258959"]},{"id":"https://openalex.org/I4210087384","display_name":"Rady Children's Hospital-San Diego","ror":"https://ror.org/00414dg76","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087384"]},{"id":"https://openalex.org/I4405267242","display_name":"Rady Children's Institute for Genomic Medicine","ror":"https://ror.org/01v97x551","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4405267242"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Adrienne Collazo","raw_affiliation_strings":["Howard Hughes Medical Institute, Chevy Chase, Maryland, USA","Institute for Genomic Medicine, Rady Children's Hospital, University of California, San Diego, La Jolla, California, USA.,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Howard Hughes Medical Institute, Chevy Chase, Maryland, USA","institution_ids":["https://openalex.org/I1344073410"]},{"raw_affiliation_string":"Institute for Genomic Medicine, Rady Children's Hospital, University of California, San Diego, La Jolla, California, USA.,","institution_ids":["https://openalex.org/I36258959","https://openalex.org/I4210087384","https://openalex.org/I4405267242"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5029779848","display_name":"Vincent Anthony Funari","orcid":"https://orcid.org/0009-0002-4945-5834","observed_orcids":["https://orcid.org/0009-0002-4945-5834"]},"institutions":[{"id":"https://openalex.org/I1282927834","display_name":"Cedars-Sinai Medical Center","ror":"https://ror.org/02pammg90","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1282927834"]},{"id":"https://openalex.org/I161318765","display_name":"University of California, Los Angeles","ror":"https://ror.org/046rm7j60","country_code":"US","type":"education","lineage":["https://openalex.org/I161318765"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Vincent Funari","raw_affiliation_strings":["Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, California, USA","Institute for Medical Genetics, Cedars-Sinai Medical Center, Los Angeles, California, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, California, USA","institution_ids":["https://openalex.org/I161318765"]},{"raw_affiliation_string":"Institute for Medical Genetics, Cedars-Sinai Medical Center, Los Angeles, California, USA","institution_ids":["https://openalex.org/I1282927834"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111588945","display_name":"Carsten Russ","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Carsten Russ","raw_affiliation_strings":["The Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061030489","display_name":"Stacey Gabriel","orcid":"https://orcid.org/0000-0001-6939-2215","observed_orcids":["https://orcid.org/0000-0001-6939-2215"]},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Stacey B Gabriel","raw_affiliation_strings":["The Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5056220869","display_name":"Gary W. Mathern","orcid":"https://orcid.org/0000-0002-7294-7610","observed_orcids":["https://orcid.org/0000-0002-7294-7610"]},"institutions":[{"id":"https://openalex.org/I161318765","display_name":"University of California, Los Angeles","ror":"https://ror.org/046rm7j60","country_code":"US","type":"education","lineage":["https://openalex.org/I161318765"]},{"id":"https://openalex.org/I4210134385","display_name":"Mattel Children's Hospital","ror":"https://ror.org/04p5baq95","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2799798094","https://openalex.org/I4210134385"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Gary W Mathern","raw_affiliation_strings":["Department of Neurosurgery, Mattel Children's Hospital, David Geffen School of Medicine, University of California, Los Angeles, California, USA","Department of Psychiatry and Biobehavioral Sciences, Mattel Children's Hospital, David Geffen School of Medicine, University of California, Los Angeles, California, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurosurgery, Mattel Children's Hospital, David Geffen School of Medicine, University of California, Los Angeles, California, USA","institution_ids":["https://openalex.org/I161318765","https://openalex.org/I4210134385"]},{"raw_affiliation_string":"Department of Psychiatry and Biobehavioral Sciences, Mattel Children's Hospital, David Geffen School of Medicine, University of California, Los Angeles, California, USA","institution_ids":["https://openalex.org/I161318765","https://openalex.org/I4210134385"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5016278872","display_name":"Joseph G. Gleeson","orcid":"https://orcid.org/0000-0002-0889-9220","observed_orcids":["https://orcid.org/0000-0002-0889-9220","https://orcid.org/0000-0002-6713-8018"]},"institutions":[{"id":"https://openalex.org/I1344073410","display_name":"Howard Hughes Medical Institute","ror":"https://ror.org/006w34k90","country_code":"US","type":"facility","lineage":["https://openalex.org/I1344073410"]},{"id":"https://openalex.org/I36258959","display_name":"University of California San Diego","ror":"https://ror.org/0168r3w48","country_code":"US","type":"education","lineage":["https://openalex.org/I36258959"]},{"id":"https://openalex.org/I4210087384","display_name":"Rady Children's Hospital-San Diego","ror":"https://ror.org/00414dg76","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087384"]},{"id":"https://openalex.org/I4405267242","display_name":"Rady Children's Institute for Genomic Medicine","ror":"https://ror.org/01v97x551","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4405267242"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Joseph G Gleeson","raw_affiliation_strings":["Howard Hughes Medical Institute, Chevy Chase, Maryland, USA","Institute for Genomic Medicine, Rady Children's Hospital, University of California, San Diego, La Jolla, California, USA.,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Howard Hughes Medical Institute, Chevy Chase, Maryland, USA","institution_ids":["https://openalex.org/I1344073410"]},{"raw_affiliation_string":"Institute for Genomic Medicine, Rady Children's Hospital, University of California, San Diego, La Jolla, California, USA.,","institution_ids":["https://openalex.org/I36258959","https://openalex.org/I4210087384","https://openalex.org/I4405267242"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":8,"corresponding_author_ids":["https://openalex.org/A5016278872","https://openalex.org/A5056220869"],"corresponding_institution_ids":["https://openalex.org/I1344073410","https://openalex.org/I161318765","https://openalex.org/I36258959","https://openalex.org/I4210087384","https://openalex.org/I4210134385","https://openalex.org/I4405267242"],"apc_list":{"value":12690,"currency":"USD","value_usd":12690},"apc_paid":null,"fwci":58.6727,"has_fulltext":false,"cited_by_count":710,"citation_normalized_percentile":{"value":0.99938134,"is_in_top_1_percent":true,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":99,"max":100},"biblio":{"volume":"44","issue":"8","first_page":"941","last_page":"945"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12552","display_name":"Fetal and Pediatric Neurological Disorders","score":0.5189999938011169,"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":0.5189999938011169,"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/T10952","display_name":"PI3K/AKT/mTOR signaling in cancer","score":0.29100000858306885,"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"}},{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.06930000334978104,"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/hemimegalencephaly","display_name":"hemimegalencephaly","score":1.0},{"id":"https://openalex.org/keywords/pik3ca","display_name":"PIK3CA","score":0.8659999966621399},{"id":"https://openalex.org/keywords/akt3","display_name":"AKT3","score":0.9950000047683716},{"id":"https://openalex.org/keywords/mtor","display_name":"mTOR","score":0.984000027179718},{"id":"https://openalex.org/keywords/pi3k-akt-mtor-pathway","display_name":"PI3K/AKT/mTOR pathway","score":0.9549999833106995},{"id":"https://openalex.org/keywords/mtor-signaling","display_name":"mTOR signaling","score":0.5120000243186951},{"id":"https://openalex.org/keywords/drug-resistant-epilepsy","display_name":"drug-resistant epilepsy","score":0.7160000205039978},{"id":"https://openalex.org/keywords/hemispherectomy","display_name":"hemispherectomy","score":0.9679999947547913},{"id":"https://openalex.org/keywords/genetic-mosaicism","display_name":"genetic mosaicism","score":0.8100000023841858},{"id":"https://openalex.org/keywords/gain-of-function","display_name":"gain-of-function","score":0.6639999747276306}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.801720917224884},{"id":"https://openalex.org/C2910338131","wikidata":"https://www.wikidata.org/wiki/Q40103033","display_name":"Hemimegalencephaly","level":4,"score":0.6969085335731506},{"id":"https://openalex.org/C86554907","wikidata":"https://www.wikidata.org/wiki/Q285613","display_name":"PI3K/AKT/mTOR pathway","level":3,"score":0.6538235545158386},{"id":"https://openalex.org/C134305767","wikidata":"https://www.wikidata.org/wiki/Q725508","display_name":"Somatic cell","level":3,"score":0.5862637758255005},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5263617634773254},{"id":"https://openalex.org/C502942594","wikidata":"https://www.wikidata.org/wiki/Q3421914","display_name":"Cancer research","level":1,"score":0.4819714426994324},{"id":"https://openalex.org/C2778234038","wikidata":"https://www.wikidata.org/wiki/Q10748814","display_name":"Megalencephaly","level":2,"score":0.44279202818870544},{"id":"https://openalex.org/C13514818","wikidata":"https://www.wikidata.org/wiki/Q5552256","display_name":"Germline mutation","level":4,"score":0.4237339496612549},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.4197917580604553},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3846660554409027},{"id":"https://openalex.org/C2777060296","wikidata":"https://www.wikidata.org/wiki/Q1316942","display_name":"Cortical dysplasia","level":3,"score":0.37123727798461914},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2473507523536682},{"id":"https://openalex.org/C2778186239","wikidata":"https://www.wikidata.org/wiki/Q41571","display_name":"Epilepsy","level":2,"score":0.20626413822174072},{"id":"https://openalex.org/C62478195","wikidata":"https://www.wikidata.org/wiki/Q828130","display_name":"Signal transduction","level":2,"score":0.16174298524856567},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.10338476300239563}],"mesh":[{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","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":"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":"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":"D009030","descriptor_name":"Mosaicism","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015398","descriptor_name":"Signal Transduction","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D019869","descriptor_name":"Phosphatidylinositol 3-Kinases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D051057","descriptor_name":"Proto-Oncogene Proteins c-akt","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D054220","descriptor_name":"Malformations of Cortical Development","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D054220","descriptor_name":"Malformations of Cortical Development","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D054220","descriptor_name":"Malformations of Cortical Development","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D058534","descriptor_name":"Class I Phosphatidylinositol 3-Kinases","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D058570","descriptor_name":"TOR Serine-Threonine Kinases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D059472","descriptor_name":"Exome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":6,"locations":[{"id":"doi:10.1038/ng.2329","doi":"https://doi.org/10.1038/ng.2329","is_oa":false,"landing_page_url":"https://doi.org/10.1038/ng.2329","pdf_url":null,"source":{"id":"https://openalex.org/S137905309","display_name":"Nature Genetics","issn_l":"1061-4036","issn":["1061-4036","1546-1718"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nature Genetics","raw_type":"journal-article"},{"id":"pmid:22729223","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/22729223","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":"Nature genetics","raw_type":"Journal Article"},{"id":"pmh:oai:europepmc.org:3383119","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4417942","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":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":null,"raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:4417942","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4417942","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":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"Nat Genet","raw_type":"Text"},{"id":"pmh:oai:ir.ymlib.yonsei.ac.kr:22282913/91504","doi":null,"is_oa":true,"landing_page_url":"http://www.nature.com/ng/journal/v44/n8/full/ng.2329.html","pdf_url":null,"source":{"id":"https://openalex.org/S4306400691","display_name":"YUHSpace (Yonsei University Medical Library)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I193775966","host_organization_name":"Yonsei University","host_organization_lineage":["https://openalex.org/I193775966"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Article"},{"id":"mag:2791553102","doi":null,"is_oa":false,"landing_page_url":"https://koasas.kaist.ac.kr/handle/10203/190660","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null}],"best_oa_location":{"id":"pmh:oai:europepmc.org:3383119","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4417942","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":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":null,"raw_type":"Text"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.98580002784729}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[{"id":"https://openalex.org/G1561169380","display_name":"Doublecortin in Neuronal Migration","funder_award_id":"R01NS041537","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"},{"id":"https://openalex.org/G1913094096","display_name":"Molecular Characterization of Joubert Syndrome","funder_award_id":"R01NS048453","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"},{"id":"https://openalex.org/G1995292980","display_name":"Large Scale Sequencing and Analysis of Genomes","funder_award_id":"U54HG003067","funder_id":"https://openalex.org/F4320337348","funder_display_name":"National Human Genome Research Institute"},{"id":"https://openalex.org/G4175253271","display_name":"Jouberin and Nephrocystin in Joubert Syndrome","funder_award_id":"R01NS052455","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"},{"id":"https://openalex.org/G4639599564","display_name":"Pathophysiology of Developing Dysplastic Human Cortex","funder_award_id":"R01NS038992","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"},{"id":"https://openalex.org/G6196018718","display_name":"University of California San Diego Neuroscience Microscopy Imaging Core","funder_award_id":"P30NS047101","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"},{"id":"https://openalex.org/G6287255509","display_name":"Molecular characterization of Hemimegalencephaly","funder_award_id":"R01NS083823","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"},{"id":"https://openalex.org/G6815575915","display_name":"Developmental Mechanisms of Human Structural Brain Defects","funder_award_id":"P01HD070494","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"}],"funders":[{"id":"https://openalex.org/F4320306082","display_name":"Howard Hughes Medical Institute","ror":"https://ror.org/006w34k90"},{"id":"https://openalex.org/F4320332603","display_name":"University of California, San Diego","ror":"https://ror.org/0168r3w48"},{"id":"https://openalex.org/F4320337348","display_name":"National Human Genome Research Institute","ror":"https://ror.org/00baak391"},{"id":"https://openalex.org/F4320337359","display_name":"National Institute of Neurological Disorders and Stroke","ror":"https://ror.org/01s5ya894"},{"id":"https://openalex.org/F4320337611","display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","ror":"https://ror.org/04byxyr05"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":42,"referenced_works":["https://openalex.org/W198282980","https://openalex.org/W1592348719","https://openalex.org/W1631012263","https://openalex.org/W1965849388","https://openalex.org/W1968980515","https://openalex.org/W1994575781","https://openalex.org/W1998815718","https://openalex.org/W2004688803","https://openalex.org/W2004885137","https://openalex.org/W2004919635","https://openalex.org/W2024824899","https://openalex.org/W2032685334","https://openalex.org/W2039409071","https://openalex.org/W2043092063","https://openalex.org/W2050790870","https://openalex.org/W2055848667","https://openalex.org/W2059549347","https://openalex.org/W2063896837","https://openalex.org/W2067040565","https://openalex.org/W2067458366","https://openalex.org/W2070841378","https://openalex.org/W2083870688","https://openalex.org/W2084459267","https://openalex.org/W2086107539","https://openalex.org/W2096345829","https://openalex.org/W2096738118","https://openalex.org/W2098788339","https://openalex.org/W2099377894","https://openalex.org/W2103304405","https://openalex.org/W2105727230","https://openalex.org/W2111326065","https://openalex.org/W2116753165","https://openalex.org/W2129172946","https://openalex.org/W2131426434","https://openalex.org/W2132630169","https://openalex.org/W2134007691","https://openalex.org/W2138304538","https://openalex.org/W2142093789","https://openalex.org/W2145432319","https://openalex.org/W2147941657","https://openalex.org/W2149681218","https://openalex.org/W2415331265"],"related_works":["https://openalex.org/W2079255707","https://openalex.org/W2401283374","https://openalex.org/W2610835549","https://openalex.org/W7100874015","https://openalex.org/W2998173144","https://openalex.org/W4308052778","https://openalex.org/W7120326001","https://openalex.org/W2121539587","https://openalex.org/W2111043432","https://openalex.org/W2969771542"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":21},{"year":2025,"cited_by_count":31},{"year":2024,"cited_by_count":29},{"year":2023,"cited_by_count":34},{"year":2022,"cited_by_count":35},{"year":2021,"cited_by_count":50},{"year":2020,"cited_by_count":83},{"year":2019,"cited_by_count":57},{"year":2018,"cited_by_count":48},{"year":2017,"cited_by_count":63},{"year":2016,"cited_by_count":56},{"year":2015,"cited_by_count":73},{"year":2014,"cited_by_count":65},{"year":2013,"cited_by_count":52},{"year":2012,"cited_by_count":11}],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2016-06-24T00:00:00"}
