{"id":"https://openalex.org/W3193202467","doi":"https://doi.org/10.1101/2021.08.05.21261553","title":"Analysis of Whole Genome Sequencing in a Cohort of Individuals with PHACE Syndrome Suggests Dysregulation of RAS/PI3K Signaling","display_name":"Analysis of Whole Genome Sequencing in a Cohort of Individuals with PHACE Syndrome Suggests Dysregulation of RAS/PI3K Signaling","publication_year":2021,"publication_date":"2021-08-09","ids":{"openalex":"https://openalex.org/W3193202467","doi":"https://doi.org/10.1101/2021.08.05.21261553","mag":"3193202467"},"language":"en","primary_location":{"id":"doi:10.1101/2021.08.05.21261553","doi":"https://doi.org/10.1101/2021.08.05.21261553","is_oa":true,"landing_page_url":"https://doi.org/10.1101/2021.08.05.21261553","pdf_url":"https://www.medrxiv.org/content/medrxiv/early/2021/08/09/2021.08.05.21261553.full.pdf","source":{"id":"https://openalex.org/S3005729997","display_name":"medRxiv","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":["https://openalex.org/P4310315909"],"host_organization_lineage_names":["Cold Spring Harbor Laboratory Press"],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"medRxiv","raw_type":"posted-content"},"volume":null,"type":"preprint","is_traditional":true,"indexed_in":["crossref"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.medrxiv.org/content/medrxiv/early/2021/08/09/2021.08.05.21261553.full.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5035901945","display_name":"Elizabeth S. Partan","orcid":"https://orcid.org/0000-0002-3995-6742","observed_orcids":["https://orcid.org/0000-0002-3995-6742"]},"institutions":[{"id":"https://openalex.org/I145311948","display_name":"Johns Hopkins University","ror":"https://ror.org/00za53h95","country_code":"US","type":"education","lineage":["https://openalex.org/I145311948"]},{"id":"https://openalex.org/I2799853436","display_name":"Johns Hopkins Medicine","ror":"https://ror.org/037zgn354","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2799853436"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Elizabeth S. Partan","raw_affiliation_strings":["McKusick-Nathans Department of Genetic Medicine","Predoctoral Training Program in Human Genetics, Johns Hopkins School of Medicine","McKusick-Nathans Department of Genetic Medicine, Johns Hopkins Medicine, Baltimore, MD","Predoctoral Training Program in Human Genetics, Johns Hopkins School of Medicine, Baltimore, MD"],"raw_orcid":"https://orcid.org/0000-0002-3995-6742","affiliations":[{"raw_affiliation_string":"McKusick-Nathans Department of Genetic Medicine","institution_ids":[]},{"raw_affiliation_string":"Predoctoral Training Program in Human Genetics, Johns Hopkins School of Medicine","institution_ids":["https://openalex.org/I145311948","https://openalex.org/I2799853436"]},{"raw_affiliation_string":"McKusick-Nathans Department of Genetic Medicine, Johns Hopkins Medicine, Baltimore, MD","institution_ids":["https://openalex.org/I145311948","https://openalex.org/I2799853436"]},{"raw_affiliation_string":"Predoctoral Training Program in Human Genetics, Johns Hopkins School of Medicine, Baltimore, MD","institution_ids":["https://openalex.org/I145311948","https://openalex.org/I2799853436"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5004367674","display_name":"Francine Blei","orcid":"https://orcid.org/0000-0001-6726-2361","observed_orcids":["https://orcid.org/0000-0001-6726-2361"]},"institutions":[{"id":"https://openalex.org/I4210086933","display_name":"NYU Langone Health","ror":"https://ror.org/005dvqh91","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210086933"]},{"id":"https://openalex.org/I57206974","display_name":"New York University","ror":"https://ror.org/0190ak572","country_code":"US","type":"education","lineage":["https://openalex.org/I57206974"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Francine Blei","raw_affiliation_strings":["Department of Pediatrics / Vascular Anomalies Program, NYU Langone Health, Grossman School of Medicine","Department of Pediatrics / Vascular Anomalies Program, NYU Langone Health, Grossman School of Medicine, New York, NY"],"raw_orcid":"https://orcid.org/0000-0001-6726-2361","affiliations":[{"raw_affiliation_string":"Department of Pediatrics / Vascular Anomalies Program, NYU Langone Health, Grossman School of Medicine","institution_ids":["https://openalex.org/I4210086933","https://openalex.org/I57206974"]},{"raw_affiliation_string":"Department of Pediatrics / Vascular Anomalies Program, NYU Langone Health, Grossman School of Medicine, New York, NY","institution_ids":["https://openalex.org/I4210086933","https://openalex.org/I57206974"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5038176283","display_name":"Sarah L. Chamlin","orcid":"https://orcid.org/0000-0002-0845-2306","observed_orcids":["https://orcid.org/0000-0002-0845-2306"]},"institutions":[{"id":"https://openalex.org/I111979921","display_name":"Northwestern University","ror":"https://ror.org/000e0be47","country_code":"US","type":"education","lineage":["https://openalex.org/I111979921"]},{"id":"https://openalex.org/I1294278766","display_name":"Lurie Children's Hospital","ror":"https://ror.org/03a6zw892","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1294278766"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Sarah L. Chamlin","raw_affiliation_strings":["Department of Dermatology, Northwestern University Feinberg School of Medicine","Department of Pediatrics, Northwestern University Feinberg School of Medicine","Division of Dermatology, Ann & Robert H. Lurie Children\u2019s Hospital of Chicago","Department of Dermatology, Northwestern University Feinberg School of Medicine, Chicago, IL","Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL","Division of Dermatology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL"],"raw_orcid":"https://orcid.org/0000-0002-0845-2306","affiliations":[{"raw_affiliation_string":"Department of Dermatology, Northwestern University Feinberg School of Medicine","institution_ids":["https://openalex.org/I111979921"]},{"raw_affiliation_string":"Department of Pediatrics, Northwestern University Feinberg School of Medicine","institution_ids":["https://openalex.org/I111979921"]},{"raw_affiliation_string":"Division of Dermatology, Ann & Robert H. Lurie Children\u2019s Hospital of Chicago","institution_ids":["https://openalex.org/I1294278766"]},{"raw_affiliation_string":"Department of Dermatology, Northwestern University Feinberg School of Medicine, Chicago, IL","institution_ids":["https://openalex.org/I111979921"]},{"raw_affiliation_string":"Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL","institution_ids":["https://openalex.org/I111979921"]},{"raw_affiliation_string":"Division of Dermatology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL","institution_ids":["https://openalex.org/I1294278766"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5068206996","display_name":"Olivia M. T. Davies","orcid":"https://orcid.org/0000-0001-5428-7279","observed_orcids":["https://orcid.org/0000-0001-5428-7279"]},"institutions":[{"id":"https://openalex.org/I204308271","display_name":"Medical College of Wisconsin","ror":"https://ror.org/00qqv6244","country_code":"US","type":"education","lineage":["https://openalex.org/I204308271"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Olivia M. T. Davies","raw_affiliation_strings":["Medical College of Wisconsin","Medical College of Wisconsin, Milwaukee, WI"],"raw_orcid":"https://orcid.org/0000-0001-5428-7279","affiliations":[{"raw_affiliation_string":"Medical College of Wisconsin","institution_ids":["https://openalex.org/I204308271"]},{"raw_affiliation_string":"Medical College of Wisconsin, Milwaukee, WI","institution_ids":["https://openalex.org/I204308271"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067069531","display_name":"Beth A. Drolet","orcid":"https://orcid.org/0000-0002-0844-7195","observed_orcids":["https://orcid.org/0000-0002-0844-7195"]},"institutions":[{"id":"https://openalex.org/I135310074","display_name":"University of Wisconsin\u2013Madison","ror":"https://ror.org/01y2jtd41","country_code":"US","type":"education","lineage":["https://openalex.org/I135310074"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Beth A. Drolet","raw_affiliation_strings":["Department of Dermatology, University of Wisconsin School of Medicine and Public Health","Department of Dermatology, University of Wisconsin School of Medicine and Public Health, Madison, WI"],"raw_orcid":"https://orcid.org/0000-0002-0844-7195","affiliations":[{"raw_affiliation_string":"Department of Dermatology, University of Wisconsin School of Medicine and Public Health","institution_ids":["https://openalex.org/I135310074"]},{"raw_affiliation_string":"Department of Dermatology, University of Wisconsin School of Medicine and Public Health, Madison, WI","institution_ids":["https://openalex.org/I135310074"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5041484982","display_name":"Ilona J. Frieden","orcid":"https://orcid.org/0000-0001-7305-5940","observed_orcids":["https://orcid.org/0000-0001-7305-5940"]},"institutions":[{"id":"https://openalex.org/I180670191","display_name":"University of California, San Francisco","ror":"https://ror.org/043mz5j54","country_code":"US","type":"education","lineage":["https://openalex.org/I180670191"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ilona J. Frieden","raw_affiliation_strings":["Department of Dermatology, University of California San Francisco","Department of Pediatrics, University of California San Francisco","Department of Dermatology, University of California San Francisco, San Francisco, CA","Department of Pediatrics, University of California San Francisco, San Francisco, CA"],"raw_orcid":"https://orcid.org/0000-0001-7305-5940","affiliations":[{"raw_affiliation_string":"Department of Dermatology, University of California San Francisco","institution_ids":["https://openalex.org/I180670191"]},{"raw_affiliation_string":"Department of Pediatrics, University of California San Francisco","institution_ids":["https://openalex.org/I180670191"]},{"raw_affiliation_string":"Department of Dermatology, University of California San Francisco, San Francisco, CA","institution_ids":["https://openalex.org/I180670191"]},{"raw_affiliation_string":"Department of Pediatrics, University of California San Francisco, San Francisco, CA","institution_ids":["https://openalex.org/I180670191"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5075839695","display_name":"Ioannis Karakikes","orcid":"https://orcid.org/0000-0002-4348-600X","observed_orcids":["https://orcid.org/0000-0002-4348-600X"]},"institutions":[{"id":"https://openalex.org/I4210137306","display_name":"Stanford Medicine","ror":"https://ror.org/03mtd9a03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210137306","https://openalex.org/I97018004"]},{"id":"https://openalex.org/I97018004","display_name":"Stanford University","ror":"https://ror.org/00f54p054","country_code":"US","type":"education","lineage":["https://openalex.org/I97018004"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ioannis Karakikes","raw_affiliation_strings":["Department of Cardiothoracic Surgery, Stanford University","Department of Cardiothoracic Surgery, Stanford University, Palo Alto, CA"],"raw_orcid":"https://orcid.org/0000-0002-4348-600X","affiliations":[{"raw_affiliation_string":"Department of Cardiothoracic Surgery, Stanford University","institution_ids":["https://openalex.org/I4210137306","https://openalex.org/I97018004"]},{"raw_affiliation_string":"Department of Cardiothoracic Surgery, Stanford University, Palo Alto, CA","institution_ids":["https://openalex.org/I97018004"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5058394936","display_name":"Chien\u2010Wei Lin","orcid":"https://orcid.org/0000-0003-4023-7339","observed_orcids":["https://orcid.org/0000-0003-4023-7339"]},"institutions":[{"id":"https://openalex.org/I204308271","display_name":"Medical College of Wisconsin","ror":"https://ror.org/00qqv6244","country_code":"US","type":"education","lineage":["https://openalex.org/I204308271"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Chien-Wei Lin","raw_affiliation_strings":["Division of Biostatistics, Institute for Health and Equity, Medical College of Wisconsin","Division of Biostatistics, Institute for Health and Equity, Medical College of Wisconsin, Milwaukee, WI"],"raw_orcid":"https://orcid.org/0000-0003-4023-7339","affiliations":[{"raw_affiliation_string":"Division of Biostatistics, Institute for Health and Equity, Medical College of Wisconsin","institution_ids":["https://openalex.org/I204308271"]},{"raw_affiliation_string":"Division of Biostatistics, Institute for Health and Equity, Medical College of Wisconsin, Milwaukee, WI","institution_ids":["https://openalex.org/I204308271"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5075969132","display_name":"Anthony J. Mancini","orcid":"https://orcid.org/0000-0003-0903-7734","observed_orcids":["https://orcid.org/0000-0003-0903-7734"]},"institutions":[{"id":"https://openalex.org/I111979921","display_name":"Northwestern University","ror":"https://ror.org/000e0be47","country_code":"US","type":"education","lineage":["https://openalex.org/I111979921"]},{"id":"https://openalex.org/I1294278766","display_name":"Lurie Children's Hospital","ror":"https://ror.org/03a6zw892","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1294278766"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Anthony J. Mancini","raw_affiliation_strings":["Department of Dermatology, Northwestern University Feinberg School of Medicine","Department of Pediatrics, Northwestern University Feinberg School of Medicine","Division of Dermatology, Ann & Robert H. Lurie Children\u2019s Hospital of Chicago","Department of Dermatology, Northwestern University Feinberg School of Medicine, Chicago, IL","Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL","Division of Dermatology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL"],"raw_orcid":"https://orcid.org/0000-0003-0903-7734","affiliations":[{"raw_affiliation_string":"Department of Dermatology, Northwestern University Feinberg School of Medicine","institution_ids":["https://openalex.org/I111979921"]},{"raw_affiliation_string":"Department of Pediatrics, Northwestern University Feinberg School of Medicine","institution_ids":["https://openalex.org/I111979921"]},{"raw_affiliation_string":"Division of Dermatology, Ann & Robert H. Lurie Children\u2019s Hospital of Chicago","institution_ids":["https://openalex.org/I1294278766"]},{"raw_affiliation_string":"Department of Dermatology, Northwestern University Feinberg School of Medicine, Chicago, IL","institution_ids":["https://openalex.org/I111979921"]},{"raw_affiliation_string":"Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL","institution_ids":["https://openalex.org/I111979921"]},{"raw_affiliation_string":"Division of Dermatology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL","institution_ids":["https://openalex.org/I1294278766"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5030586813","display_name":"Denise Walker Metry","orcid":"https://orcid.org/0000-0003-1991-1683","observed_orcids":["https://orcid.org/0000-0003-1991-1683"]},"institutions":[{"id":"https://openalex.org/I181547552","display_name":"Baylor College of Medicine","ror":"https://ror.org/02pttbw34","country_code":"US","type":"education","lineage":["https://openalex.org/I181547552","https://openalex.org/I2801539370"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Denise Metry","raw_affiliation_strings":["Department of Dermatology, Baylor College of Medicine","Department of Dermatology, Baylor College of Medicine, Houston, TX"],"raw_orcid":"https://orcid.org/0000-0003-1991-1683","affiliations":[{"raw_affiliation_string":"Department of Dermatology, Baylor College of Medicine","institution_ids":["https://openalex.org/I181547552"]},{"raw_affiliation_string":"Department of Dermatology, Baylor College of Medicine, Houston, TX","institution_ids":["https://openalex.org/I181547552"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5030774402","display_name":"Anthony E. Oro","orcid":"https://orcid.org/0000-0002-6261-138X","observed_orcids":["https://orcid.org/0000-0002-6261-138X"]},"institutions":[{"id":"https://openalex.org/I97018004","display_name":"Stanford University","ror":"https://ror.org/00f54p054","country_code":"US","type":"education","lineage":["https://openalex.org/I97018004"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Anthony Oro","raw_affiliation_strings":["Department of Dermatology, Stanford University","Department of Dermatology, Stanford University, Palo Alto, CA"],"raw_orcid":"https://orcid.org/0000-0002-6261-138X","affiliations":[{"raw_affiliation_string":"Department of Dermatology, Stanford University","institution_ids":["https://openalex.org/I97018004"]},{"raw_affiliation_string":"Department of Dermatology, Stanford University, Palo Alto, CA","institution_ids":["https://openalex.org/I97018004"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5077651731","display_name":"Nicole S. Stefanko","orcid":"https://orcid.org/0000-0002-3609-3144","observed_orcids":["https://orcid.org/0000-0002-3609-3144"]},"institutions":[{"id":"https://openalex.org/I111979921","display_name":"Northwestern University","ror":"https://ror.org/000e0be47","country_code":"US","type":"education","lineage":["https://openalex.org/I111979921"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Nicole S. Stefanko","raw_affiliation_strings":["Department of Dermatology, Northwestern University Feinberg School of Medicine","Department of Dermatology, Northwestern University Feinberg School of Medicine, Chicago, IL"],"raw_orcid":"https://orcid.org/0000-0002-3609-3144","affiliations":[{"raw_affiliation_string":"Department of Dermatology, Northwestern University Feinberg School of Medicine","institution_ids":["https://openalex.org/I111979921"]},{"raw_affiliation_string":"Department of Dermatology, Northwestern University Feinberg School of Medicine, Chicago, IL","institution_ids":["https://openalex.org/I111979921"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5031103441","display_name":"Laksshman Sundaram","orcid":"https://orcid.org/0000-0002-8953-3940","observed_orcids":["https://orcid.org/0000-0002-8953-3940"]},"institutions":[{"id":"https://openalex.org/I97018004","display_name":"Stanford University","ror":"https://ror.org/00f54p054","country_code":"US","type":"education","lineage":["https://openalex.org/I97018004"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Laksshman Sundaram","raw_affiliation_strings":["Department of Computer Science, Stanford School of Engineering","Department of Computer Science, Stanford School of Engineering, Palo Alto, CA"],"raw_orcid":"https://orcid.org/0000-0002-8953-3940","affiliations":[{"raw_affiliation_string":"Department of Computer Science, Stanford School of Engineering","institution_ids":["https://openalex.org/I97018004"]},{"raw_affiliation_string":"Department of Computer Science, Stanford School of Engineering, Palo Alto, CA","institution_ids":["https://openalex.org/I97018004"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5028945083","display_name":"Monika Tutaj","orcid":"https://orcid.org/0000-0002-0378-4002","observed_orcids":["https://orcid.org/0000-0002-0378-4002"]},"institutions":[{"id":"https://openalex.org/I204308271","display_name":"Medical College of Wisconsin","ror":"https://ror.org/00qqv6244","country_code":"US","type":"education","lineage":["https://openalex.org/I204308271"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Monika Tutaj","raw_affiliation_strings":["Department of Biomedical Engineering, Medical College of Wisconsin","Department of Biomedical Engineering, Medical College of Wisconsin, Milwaukee, WI"],"raw_orcid":"https://orcid.org/0000-0002-0378-4002","affiliations":[{"raw_affiliation_string":"Department of Biomedical Engineering, Medical College of Wisconsin","institution_ids":["https://openalex.org/I204308271"]},{"raw_affiliation_string":"Department of Biomedical Engineering, Medical College of Wisconsin, Milwaukee, WI","institution_ids":["https://openalex.org/I204308271"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003270170","display_name":"Alexander Eckehart Urban","orcid":"https://orcid.org/0000-0001-9772-933X","observed_orcids":["https://orcid.org/0000-0001-9772-933X"]},"institutions":[{"id":"https://openalex.org/I4210137306","display_name":"Stanford Medicine","ror":"https://ror.org/03mtd9a03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210137306","https://openalex.org/I97018004"]},{"id":"https://openalex.org/I97018004","display_name":"Stanford University","ror":"https://ror.org/00f54p054","country_code":"US","type":"education","lineage":["https://openalex.org/I97018004"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Alexander E. Urban","raw_affiliation_strings":["Department of Genetics, Stanford University","Department of Psychiatry and Behavioral Sciences, Stanford University","Department of Genetics, Stanford University, Palo Alto, CA","Department of Psychiatry and Behavioral Sciences, Stanford University, Palo Alto, CA"],"raw_orcid":"https://orcid.org/0000-0001-9772-933X","affiliations":[{"raw_affiliation_string":"Department of Genetics, Stanford University","institution_ids":["https://openalex.org/I97018004"]},{"raw_affiliation_string":"Department of Psychiatry and Behavioral Sciences, Stanford University","institution_ids":["https://openalex.org/I4210137306","https://openalex.org/I97018004"]},{"raw_affiliation_string":"Department of Genetics, Stanford University, Palo Alto, CA","institution_ids":["https://openalex.org/I97018004"]},{"raw_affiliation_string":"Department of Psychiatry and Behavioral Sciences, Stanford University, Palo Alto, CA","institution_ids":["https://openalex.org/I97018004"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5041332430","display_name":"Ke Wang","orcid":"https://orcid.org/0000-0002-5305-6791","observed_orcids":["https://orcid.org/0000-0002-5305-6791"]},"institutions":[{"id":"https://openalex.org/I1322918889","display_name":"United States Department of Veterans Affairs","ror":"https://ror.org/05rsv9s98","country_code":"US","type":"government","lineage":["https://openalex.org/I1322918889"]},{"id":"https://openalex.org/I204866599","display_name":"VA Palo Alto Health Care System","ror":"https://ror.org/00nr17z89","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1322918889","https://openalex.org/I204866599","https://openalex.org/I2799886695","https://openalex.org/I4210125474"]},{"id":"https://openalex.org/I97018004","display_name":"Stanford University","ror":"https://ror.org/00f54p054","country_code":"US","type":"education","lineage":["https://openalex.org/I97018004"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kevin C. Wang","raw_affiliation_strings":["Department of Dermatology, Stanford University","Veterans Affairs Healthcare System","Department of Dermatology, Stanford University, Palo Alto, CA","Veterans Affairs Healthcare System, Palo Alto, CA"],"raw_orcid":"https://orcid.org/0000-0002-5305-6791","affiliations":[{"raw_affiliation_string":"Department of Dermatology, Stanford University","institution_ids":["https://openalex.org/I97018004"]},{"raw_affiliation_string":"Veterans Affairs Healthcare System","institution_ids":["https://openalex.org/I1322918889"]},{"raw_affiliation_string":"Department of Dermatology, Stanford University, Palo Alto, CA","institution_ids":["https://openalex.org/I97018004"]},{"raw_affiliation_string":"Veterans Affairs Healthcare System, Palo Alto, CA","institution_ids":["https://openalex.org/I204866599"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5025808877","display_name":"Xiaowei Zhu","orcid":"https://orcid.org/0000-0002-5731-3177","observed_orcids":["https://orcid.org/0000-0002-5731-3177"]},"institutions":[{"id":"https://openalex.org/I4210137306","display_name":"Stanford Medicine","ror":"https://ror.org/03mtd9a03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210137306","https://openalex.org/I97018004"]},{"id":"https://openalex.org/I97018004","display_name":"Stanford University","ror":"https://ror.org/00f54p054","country_code":"US","type":"education","lineage":["https://openalex.org/I97018004"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Xiaowei Zhu","raw_affiliation_strings":["Department of Genetics, Stanford University","Department of Psychiatry and Behavioral Sciences, Stanford University","Department of Genetics, Stanford University, Palo Alto, CA","Department of Psychiatry and Behavioral Sciences, Stanford University, Palo Alto, CA"],"raw_orcid":"https://orcid.org/0000-0002-5731-3177","affiliations":[{"raw_affiliation_string":"Department of Genetics, Stanford University","institution_ids":["https://openalex.org/I97018004"]},{"raw_affiliation_string":"Department of Psychiatry and Behavioral Sciences, Stanford University","institution_ids":["https://openalex.org/I4210137306","https://openalex.org/I97018004"]},{"raw_affiliation_string":"Department of Genetics, Stanford University, Palo Alto, CA","institution_ids":["https://openalex.org/I97018004"]},{"raw_affiliation_string":"Department of Psychiatry and Behavioral Sciences, Stanford University, Palo Alto, CA","institution_ids":["https://openalex.org/I97018004"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069575511","display_name":"Nara Lygia de Macena Sobreira","orcid":"https://orcid.org/0000-0002-5228-5613","observed_orcids":["https://orcid.org/0000-0002-5228-5613"]},"institutions":[{"id":"https://openalex.org/I145311948","display_name":"Johns Hopkins University","ror":"https://ror.org/00za53h95","country_code":"US","type":"education","lineage":["https://openalex.org/I145311948"]},{"id":"https://openalex.org/I2799853436","display_name":"Johns Hopkins Medicine","ror":"https://ror.org/037zgn354","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2799853436"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Nara Sobreira","raw_affiliation_strings":["Department of Pediatrics, Johns Hopkins Medicine","McKusick-Nathans Department of Genetic Medicine","Department of Pediatrics, Johns Hopkins Medicine, Baltimore, MD","McKusick-Nathans Department of Genetic Medicine, Johns Hopkins Medicine, Baltimore, MD"],"raw_orcid":"https://orcid.org/0000-0002-5228-5613","affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Johns Hopkins Medicine","institution_ids":["https://openalex.org/I145311948","https://openalex.org/I2799853436"]},{"raw_affiliation_string":"McKusick-Nathans Department of Genetic Medicine","institution_ids":[]},{"raw_affiliation_string":"Department of Pediatrics, Johns Hopkins Medicine, Baltimore, MD","institution_ids":["https://openalex.org/I145311948","https://openalex.org/I2799853436"]},{"raw_affiliation_string":"McKusick-Nathans Department of Genetic Medicine, Johns Hopkins Medicine, Baltimore, MD","institution_ids":["https://openalex.org/I145311948","https://openalex.org/I2799853436"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5014925769","display_name":"Dawn H. Siegel","orcid":"https://orcid.org/0000-0001-6546-2693","observed_orcids":["https://orcid.org/0000-0001-6546-2693"]},"institutions":[{"id":"https://openalex.org/I204308271","display_name":"Medical College of Wisconsin","ror":"https://ror.org/00qqv6244","country_code":"US","type":"education","lineage":["https://openalex.org/I204308271"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Dawn H. Siegel","raw_affiliation_strings":["Department of Dermatology, Medical College of Wisconsin","Department of Dermatology, Medical College of Wisconsin, Milwaukee, WI"],"raw_orcid":"https://orcid.org/0000-0001-6546-2693","affiliations":[{"raw_affiliation_string":"Department of Dermatology, Medical College of Wisconsin","institution_ids":["https://openalex.org/I204308271"]},{"raw_affiliation_string":"Department of Dermatology, Medical College of Wisconsin, Milwaukee, WI","institution_ids":["https://openalex.org/I204308271"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":14,"corresponding_author_ids":["https://openalex.org/A5014925769"],"corresponding_institution_ids":["https://openalex.org/I204308271"],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":true,"cited_by_count":3,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10980","display_name":"Vascular Malformations and Hemangiomas","score":0.9276999831199646,"subfield":{"id":"https://openalex.org/subfields/2746","display_name":"Surgery"},"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/T10980","display_name":"Vascular Malformations and Hemangiomas","score":0.9276999831199646,"subfield":{"id":"https://openalex.org/subfields/2746","display_name":"Surgery"},"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/T11642","display_name":"Genomics and Rare Diseases","score":0.041600000113248825,"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/T12355","display_name":"Genetic and rare skin diseases.","score":0.006800000090152025,"subfield":{"id":"https://openalex.org/subfields/2708","display_name":"Dermatology"},"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/phace-syndrome","display_name":"PHACE syndrome","score":1.0},{"id":"https://openalex.org/keywords/rasopathies","display_name":"RASopathies","score":0.8970000147819519},{"id":"https://openalex.org/keywords/ras-mapk-pathway","display_name":"RAS/MAPK pathway","score":0.9269999861717224},{"id":"https://openalex.org/keywords/pi3k-akt-signaling","display_name":"PI3K/Akt signaling","score":0.9829999804496765},{"id":"https://openalex.org/keywords/de-novo-mutations","display_name":"de novo mutations","score":0.890999972820282},{"id":"https://openalex.org/keywords/rare-germline-variants","display_name":"rare germline variants","score":0.7549999952316284},{"id":"https://openalex.org/keywords/segmental-hemangioma","display_name":"segmental hemangioma","score":0.9269999861717224},{"id":"https://openalex.org/keywords/vascular-birthmarks","display_name":"vascular birthmarks","score":0.5490000247955322},{"id":"https://openalex.org/keywords/posterior-fossa-malformations","display_name":"posterior fossa malformations","score":0.8040000200271606},{"id":"https://openalex.org/keywords/cardiac-defects","display_name":"cardiac defects","score":0.5899999737739563},{"id":"https://openalex.org/keywords/ocular-abnormalities","display_name":"ocular abnormalities","score":0.8489999771118164},{"id":"https://openalex.org/keywords/angiogenesis","display_name":"angiogenesis","score":0.7609999775886536},{"id":"https://openalex.org/keywords/pathway-dysregulation","display_name":"dysregulated pathways","score":0.7289999723434448}],"concepts":[{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5679754614830017},{"id":"https://openalex.org/C188997412","wikidata":"https://www.wikidata.org/wiki/Q1640386","display_name":"Proband","level":4,"score":0.5328184962272644},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5081102848052979},{"id":"https://openalex.org/C2777983448","wikidata":"https://www.wikidata.org/wiki/Q2745322","display_name":"STK11","level":5,"score":0.46808844804763794},{"id":"https://openalex.org/C69991583","wikidata":"https://www.wikidata.org/wiki/Q1423575","display_name":"Candidate gene","level":3,"score":0.4527563750743866},{"id":"https://openalex.org/C86554907","wikidata":"https://www.wikidata.org/wiki/Q285613","display_name":"PI3K/AKT/mTOR pathway","level":3,"score":0.41019850969314575},{"id":"https://openalex.org/C502942594","wikidata":"https://www.wikidata.org/wiki/Q3421914","display_name":"Cancer research","level":1,"score":0.33441537618637085},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2890666723251343},{"id":"https://openalex.org/C62478195","wikidata":"https://www.wikidata.org/wiki/Q828130","display_name":"Signal transduction","level":2,"score":0.1720413863658905},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.16326111555099487},{"id":"https://openalex.org/C2781187634","wikidata":"https://www.wikidata.org/wiki/Q20969980","display_name":"KRAS","level":4,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1101/2021.08.05.21261553","doi":"https://doi.org/10.1101/2021.08.05.21261553","is_oa":true,"landing_page_url":"https://doi.org/10.1101/2021.08.05.21261553","pdf_url":"https://www.medrxiv.org/content/medrxiv/early/2021/08/09/2021.08.05.21261553.full.pdf","source":{"id":"https://openalex.org/S3005729997","display_name":"medRxiv","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":["https://openalex.org/P4310315909"],"host_organization_lineage_names":["Cold Spring Harbor Laboratory Press"],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"medRxiv","raw_type":"posted-content"}],"best_oa_location":{"id":"doi:10.1101/2021.08.05.21261553","doi":"https://doi.org/10.1101/2021.08.05.21261553","is_oa":true,"landing_page_url":"https://doi.org/10.1101/2021.08.05.21261553","pdf_url":"https://www.medrxiv.org/content/medrxiv/early/2021/08/09/2021.08.05.21261553.full.pdf","source":{"id":"https://openalex.org/S3005729997","display_name":"medRxiv","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":["https://openalex.org/P4310315909"],"host_organization_lineage_names":["Cold Spring Harbor Laboratory Press"],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"medRxiv","raw_type":"posted-content"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9763000011444092}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320312687","display_name":"Children\u2019s Hospital of Wisconsin Research Institute","ror":"https://ror.org/058g1h315"},{"id":"https://openalex.org/F4320317662","display_name":"Pediatric Dermatology Research Alliance","ror":"https://ror.org/05jfp8s87"},{"id":"https://openalex.org/F4320337349","display_name":"NIH Office of the Director","ror":"https://ror.org/00fj8a872"},{"id":"https://openalex.org/F4320338403","display_name":"Common Fund","ror":"https://ror.org/001d55x84"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W3193202467.pdf","grobid_xml":"https://content.openalex.org/works/W3193202467.grobid-xml"},"referenced_works_count":83,"referenced_works":["https://openalex.org/W1585895556","https://openalex.org/W1919257374","https://openalex.org/W1965104570","https://openalex.org/W1970884574","https://openalex.org/W1974128502","https://openalex.org/W1979171759","https://openalex.org/W1979599732","https://openalex.org/W1982730503","https://openalex.org/W1984068087","https://openalex.org/W1985000689","https://openalex.org/W1990954164","https://openalex.org/W2005013887","https://openalex.org/W2005018138","https://openalex.org/W2005281324","https://openalex.org/W2006647502","https://openalex.org/W2009671993","https://openalex.org/W2011582941","https://openalex.org/W2012110118","https://openalex.org/W2014103897","https://openalex.org/W2018189081","https://openalex.org/W2036841261","https://openalex.org/W2039707010","https://openalex.org/W2039898357","https://openalex.org/W2047401805","https://openalex.org/W2049188302","https://openalex.org/W2067076362","https://openalex.org/W2069411507","https://openalex.org/W2070989919","https://openalex.org/W2071165238","https://openalex.org/W2077907202","https://openalex.org/W2082044035","https://openalex.org/W2083283637","https://openalex.org/W2086463748","https://openalex.org/W2087121423","https://openalex.org/W2095112712","https://openalex.org/W2100423216","https://openalex.org/W2105732005","https://openalex.org/W2110310870","https://openalex.org/W2115390024","https://openalex.org/W2117792884","https://openalex.org/W2124594265","https://openalex.org/W2130479394","https://openalex.org/W2130949246","https://openalex.org/W2132123037","https://openalex.org/W2134331483","https://openalex.org/W2137390871","https://openalex.org/W2138423846","https://openalex.org/W2145497092","https://openalex.org/W2148105023","https://openalex.org/W2154749163","https://openalex.org/W2155501369","https://openalex.org/W2157132849","https://openalex.org/W2162098329","https://openalex.org/W2163513494","https://openalex.org/W2177545267","https://openalex.org/W2202677458","https://openalex.org/W2225726427","https://openalex.org/W2256016639","https://openalex.org/W2345994763","https://openalex.org/W2440038818","https://openalex.org/W2479046921","https://openalex.org/W2508153157","https://openalex.org/W2558106659","https://openalex.org/W2742600815","https://openalex.org/W2751449867","https://openalex.org/W2783376397","https://openalex.org/W2801491392","https://openalex.org/W2901303766","https://openalex.org/W2905452503","https://openalex.org/W2924136562","https://openalex.org/W2944545583","https://openalex.org/W2949857618","https://openalex.org/W2949992023","https://openalex.org/W2952668681","https://openalex.org/W2965985232","https://openalex.org/W2971971858","https://openalex.org/W2979684492","https://openalex.org/W2984472267","https://openalex.org/W2996171578","https://openalex.org/W3029661147","https://openalex.org/W3049056316","https://openalex.org/W3087475147","https://openalex.org/W3094271951"],"related_works":["https://openalex.org/W4286110650","https://openalex.org/W2906377306","https://openalex.org/W2137390871","https://openalex.org/W2530017684","https://openalex.org/W2770433431","https://openalex.org/W2069411507","https://openalex.org/W4384129591","https://openalex.org/W2157828210","https://openalex.org/W2072224459","https://openalex.org/W1983640071"],"abstract_inverted_index":{"ABSTRACT":[0],"The":[1,21,36],"acronym":[2],"PHACE":[3,125],"stands":[4],"for":[5],"the":[6,45,68,77,90,100,116,120,127],"co-occurrence":[7],"of":[8,23,55,59,76,89,99,130],"posterior":[9],"brain":[10],"fossa":[11],"malformations,":[12],"hemangiomas,":[13],"arterial":[14],"anomalies,":[15],"cardiac":[16],"defects,":[17],"and":[18,29,38,102,110,119],"eye":[19],"abnormalities.":[20],"majority":[22],"patients":[24],"have":[25],"a":[26,51],"segmental":[27],"hemangioma":[28],"at":[30],"least":[31],"one":[32],"developmental":[33,117],"structural":[34],"anomaly.":[35],"etiology":[37],"pathogenesis":[39],"are":[40],"unknown.":[41],"Here":[42],"we":[43],"discuss":[44],"candidate":[46],"causative":[47],"genes":[48,91],"identified":[49],"in":[50,66],"de":[52,94],"novo":[53,95],"analysis":[54,88],"whole":[56],"genome":[57],"sequencing":[58],"germline":[60],"samples":[61],"from":[62],"98":[63],"unrelated":[64],"trios":[65],"which":[67],"probands":[69],"had":[70],"PHACE,":[71],"all":[72],"sequenced":[73],"as":[74],"part":[75],"Gabriella":[78],"Miller":[79],"Kids":[80],"First":[81],"Pediatric":[82],"Research":[83],"Program.":[84],"A":[85],"g:Profiler":[86],"pathway":[87],"with":[92,115],"rare,":[93],"variants":[96],"suggested":[97],"dysregulation":[98],"RAS/MAPK":[101],"PI3K/AKT":[103],"pathways":[104],"that":[105],"regulate":[106],"cell":[107],"growth,":[108],"migration,":[109],"angiogenesis.":[111],"These":[112],"findings,":[113],"along":[114],"anomalies":[118],"vascular":[121],"birthmark,":[122],"support":[123],"including":[124],"within":[126],"RASopathy":[128],"family":[129],"syndromes.":[131]},"counts_by_year":[{"year":2025,"cited_by_count":3}],"updated_date":"2026-11-09T13:22:03.289127","created_date":"2021-08-16T00:00:00"}