{"id":"https://openalex.org/W4409537404","doi":"https://doi.org/10.1016/j.gimo.2025.103430","title":"Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panels","display_name":"Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panels","publication_year":2025,"publication_date":"2025-01-01","ids":{"openalex":"https://openalex.org/W4409537404","doi":"https://doi.org/10.1016/j.gimo.2025.103430","pmid":"https://pubmed.ncbi.nlm.nih.gov/40496714","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/12151217"},"language":"en","primary_location":{"id":"doi:10.1016/j.gimo.2025.103430","doi":"https://doi.org/10.1016/j.gimo.2025.103430","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.gimo.2025.103430","pdf_url":null,"source":{"id":"https://openalex.org/S4387287141","display_name":"Genetics in Medicine Open","issn_l":"2949-7744","issn":["2949-7744"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","jufo-1","ki-jl-1"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genetics in Medicine Open","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://doi.org/10.1016/j.gimo.2025.103430","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5035538920","display_name":"Emma H. Wilcox","orcid":"https://orcid.org/0000-0003-4972-2947","observed_orcids":["https://orcid.org/0000-0003-4972-2947"]},"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"]},{"id":"https://openalex.org/I27804330","display_name":"Brown University","ror":"https://ror.org/05gq02987","country_code":"US","type":"education","lineage":["https://openalex.org/I27804330"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Emma H. Wilcox","raw_affiliation_strings":["Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA","The Warren Alpert Medical School of Brown University, Providence, RI"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA","institution_ids":["https://openalex.org/I107606265"]},{"raw_affiliation_string":"The Warren Alpert Medical School of Brown University, Providence, RI","institution_ids":["https://openalex.org/I27804330"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102919802","display_name":"Ryan Webb","orcid":"https://orcid.org/0009-0003-2127-3550","observed_orcids":["https://orcid.org/0009-0003-2127-3550"]},"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":"Ryan F. Webb","raw_affiliation_strings":["Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082547460","display_name":"Kezang C. Tshering","orcid":"https://orcid.org/0000-0001-9619-3625","observed_orcids":["https://orcid.org/0000-0001-9619-3625"]},"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":"Kezang C. Tshering","raw_affiliation_strings":["Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5060855977","display_name":"Madeline Y. Hughes","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":"Madeline Y. Hughes","raw_affiliation_strings":["Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5009969425","display_name":"H\u00e9l\u00e8ne Cav\u00e9","orcid":"https://orcid.org/0000-0003-2840-1511","observed_orcids":["https://orcid.org/0000-0003-2840-1511"]},"institutions":[{"id":"https://openalex.org/I204730241","display_name":"Universit\u00e9 Paris Cit\u00e9","ror":"https://ror.org/05f82e368","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4210126712","display_name":"H\u00f4pital Robert-Debr\u00e9","ror":"https://ror.org/02dcqy320","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210126712"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"H\u00e9l\u00e8ne Cav\u00e9","raw_affiliation_strings":["D\u00e9partement de G\u00e9n\u00e9tique, H\u00f4pital Robert Debr\u00e9 (AP-HP), and Universit\u00e9 Paris-Cit\u00e9, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"D\u00e9partement de G\u00e9n\u00e9tique, H\u00f4pital Robert Debr\u00e9 (AP-HP), and Universit\u00e9 Paris-Cit\u00e9, Paris, France","institution_ids":["https://openalex.org/I204730241","https://openalex.org/I4210097159","https://openalex.org/I4210126712"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5021940035","display_name":"Marina T. DiStefano","orcid":"https://orcid.org/0000-0002-8218-5111","observed_orcids":["https://orcid.org/0000-0002-8218-5111"]},"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":"Marina T. DiStefano","raw_affiliation_strings":["Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5095894606","display_name":"Hannah Dziadzio","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":"Hannah Dziadzio","raw_affiliation_strings":["Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110881502","display_name":"Kate Garber","orcid":"https://orcid.org/0000-0001-9069-3901","observed_orcids":["https://orcid.org/0000-0001-9069-3901"]},"institutions":[{"id":"https://openalex.org/I150468666","display_name":"Emory University","ror":"https://ror.org/03czfpz43","country_code":"US","type":"education","lineage":["https://openalex.org/I150468666"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kate Garber","raw_affiliation_strings":["Department of Human Genetics, Emory School of Medicine, Atlanta, GA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, Emory School of Medicine, Atlanta, GA","institution_ids":["https://openalex.org/I150468666"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086328119","display_name":"Bruce D. Gelb","orcid":"https://orcid.org/0000-0001-8527-5027","observed_orcids":["https://orcid.org/0000-0001-8527-5027"]},"institutions":[{"id":"https://openalex.org/I98704320","display_name":"Icahn School of Medicine at Mount Sinai","ror":"https://ror.org/04a9tmd77","country_code":"US","type":"education","lineage":["https://openalex.org/I1320796813","https://openalex.org/I98704320"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Bruce D. Gelb","raw_affiliation_strings":["Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY","institution_ids":["https://openalex.org/I98704320"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5063661244","display_name":"Karen Webster Gripp","orcid":"https://orcid.org/0000-0001-8200-1733","observed_orcids":["https://orcid.org/0000-0001-8200-1733"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Karen W. Gripp","raw_affiliation_strings":["Division of Medical Genetics, Nemours Children's Hospital, Wilmington, DE"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Medical Genetics, Nemours Children's Hospital, Wilmington, DE","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5028894460","display_name":"Shoji Ichikawa","orcid":"https://orcid.org/0000-0001-6477-0520","observed_orcids":["https://orcid.org/0000-0001-6477-0520"]},"institutions":[{"id":"https://openalex.org/I4210151459","display_name":"Ambry Genetics (United States)","ror":"https://ror.org/051ae8e94","country_code":"US","type":"company","lineage":["https://openalex.org/I4210151459"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Shoji Ichikawa","raw_affiliation_strings":["Ambry Genetics, Aliso Viejo, CA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ambry Genetics, Aliso Viejo, CA","institution_ids":["https://openalex.org/I4210151459"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101739575","display_name":"Jennifer A. Lee","orcid":"https://orcid.org/0000-0003-2890-7483","observed_orcids":["https://orcid.org/0000-0003-2890-7483"]},"institutions":[{"id":"https://openalex.org/I4210149064","display_name":"Greenwood Genetic Center","ror":"https://ror.org/03p64mj41","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210149064"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jennifer A. Lee","raw_affiliation_strings":["Greenwood Genetic Center, Greenwood, SC"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Greenwood Genetic Center, Greenwood, SC","institution_ids":["https://openalex.org/I4210149064"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5022448525","display_name":"Hannah R. McCurry","orcid":"https://orcid.org/0000-0002-8135-6070","observed_orcids":["https://orcid.org/0000-0002-8135-6070"]},"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":"Hannah McCurry","raw_affiliation_strings":["Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048934823","display_name":"Marco Tartaglia","orcid":"https://orcid.org/0000-0001-7736-9672","observed_orcids":["https://orcid.org/0000-0001-7736-9672"]},"institutions":[{"id":"https://openalex.org/I4210123352","display_name":"Bambino Ges\u00f9 Children's Hospital","ror":"https://ror.org/02sy42d13","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210123352","https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Marco Tartaglia","raw_affiliation_strings":["Ospedale Pediatrico Bambino Ges\u00f9, IRCCS, Rome, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ospedale Pediatrico Bambino Ges\u00f9, IRCCS, Rome, Italy","institution_ids":["https://openalex.org/I4210123352"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Bradley Williams","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Bradley Williams","raw_affiliation_strings":["GeneDx, Gaithersburg, MD"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"GeneDx, Gaithersburg, MD","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5019664227","display_name":"Martin Zenker","orcid":"https://orcid.org/0000-0003-1618-9269","observed_orcids":["https://orcid.org/0000-0003-1618-9269"]},"institutions":[{"id":"https://openalex.org/I4210138551","display_name":"University Hospital Magdeburg","ror":"https://ror.org/03m04df46","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210138551"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Martin Zenker","raw_affiliation_strings":["Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany","institution_ids":["https://openalex.org/I4210138551"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5081302325","display_name":"Lisa M. Vincent","orcid":"https://orcid.org/0000-0003-1348-7738","observed_orcids":["https://orcid.org/0000-0003-1348-7738"]},"institutions":[{"id":"https://openalex.org/I4210124610","display_name":"Natera (United States)","ror":"https://ror.org/02anzyy56","country_code":"US","type":"company","lineage":["https://openalex.org/I4210124610"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Lisa M. Vincent","raw_affiliation_strings":["Natera Inc, Austin, TX"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Natera Inc, Austin, TX","institution_ids":["https://openalex.org/I4210124610"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003719393","display_name":"Heather Mason\u2010Suares","orcid":"https://orcid.org/0000-0002-0146-4881","observed_orcids":["https://orcid.org/0000-0002-0146-4881"]},"institutions":[{"id":"https://openalex.org/I48633490","display_name":"Mass General Brigham","ror":"https://ror.org/04py2rh25","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I48633490"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Heather Mason-Suares","raw_affiliation_strings":["Mass General Brigham, Laboratory for Molecular Medicine, Cambridge, MA"],"raw_orcid":"https://orcid.org/0000-0002-0146-4881","affiliations":[{"raw_affiliation_string":"Mass General Brigham, Laboratory for Molecular Medicine, Cambridge, MA","institution_ids":["https://openalex.org/I48633490"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Bradley Williams","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Bradley Williams","raw_affiliation_strings":["GeneDx, Gaithersburg, MD"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"GeneDx, Gaithersburg, MD","institution_ids":[]}]},{"author_position":"middle","author":{"id":null,"display_name":"Bruce Gelb","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I98704320","display_name":"Icahn School of Medicine at Mount Sinai","ror":"https://ror.org/04a9tmd77","country_code":"US","type":"education","lineage":["https://openalex.org/I1320796813","https://openalex.org/I98704320"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Bruce Gelb","raw_affiliation_strings":["Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY","institution_ids":["https://openalex.org/I98704320"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Hannah Dziadzio","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":"Hannah Dziadzio","raw_affiliation_strings":["Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Heather Mason-Suares","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I48633490","display_name":"Mass General Brigham","ror":"https://ror.org/04py2rh25","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I48633490"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Heather Mason-Suares","raw_affiliation_strings":["Mass General Brigham, Laboratory for Molecular Medicine, Cambridge, MA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Mass General Brigham, Laboratory for Molecular Medicine, Cambridge, MA","institution_ids":["https://openalex.org/I48633490"]}]},{"author_position":"middle","author":{"id":null,"display_name":"H\u00e9l\u00e8ne Cav\u00e9","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I204730241","display_name":"Universit\u00e9 Paris Cit\u00e9","ror":"https://ror.org/05f82e368","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4210126712","display_name":"H\u00f4pital Robert-Debr\u00e9","ror":"https://ror.org/02dcqy320","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210126712"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"H\u00e9l\u00e8ne Cav\u00e9","raw_affiliation_strings":["D\u00e9partement de G\u00e9n\u00e9tique, H\u00f4pital Robert Debr\u00e9 (AP-HP), and Universit\u00e9 Paris-Cit\u00e9, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"D\u00e9partement de G\u00e9n\u00e9tique, H\u00f4pital Robert Debr\u00e9 (AP-HP), and Universit\u00e9 Paris-Cit\u00e9, Paris, France","institution_ids":["https://openalex.org/I204730241","https://openalex.org/I4210097159","https://openalex.org/I4210126712"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Jennifer Lee","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210149064","display_name":"Greenwood Genetic Center","ror":"https://ror.org/03p64mj41","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210149064"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jennifer Lee","raw_affiliation_strings":["Greenwood Genetic Center, Greenwood, SC"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Greenwood Genetic Center, Greenwood, SC","institution_ids":["https://openalex.org/I4210149064"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Karen Gripp","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Karen Gripp","raw_affiliation_strings":["Division of Medical Genetics, Nemours Children's Hospital, Wilmington, DE"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Medical Genetics, Nemours Children's Hospital, Wilmington, DE","institution_ids":[]}]},{"author_position":"middle","author":{"id":null,"display_name":"Kat Lafferty","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Kat Lafferty","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"Kezang Tshering","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":"Kezang Tshering","raw_affiliation_strings":["Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Lisa Vincent","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210124610","display_name":"Natera (United States)","ror":"https://ror.org/02anzyy56","country_code":"US","type":"company","lineage":["https://openalex.org/I4210124610"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Lisa Vincent","raw_affiliation_strings":["Natera Inc, Austin, TX"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Natera Inc, Austin, TX","institution_ids":["https://openalex.org/I4210124610"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Luis Enrique Gomez","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Luis Enrique Gomez","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"Marco Tartaglia","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210123352","display_name":"Bambino Ges\u00f9 Children's Hospital","ror":"https://ror.org/02sy42d13","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210123352","https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Marco Tartaglia","raw_affiliation_strings":["Ospedale Pediatrico Bambino Ges\u00f9, IRCCS, Rome, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ospedale Pediatrico Bambino Ges\u00f9, IRCCS, Rome, Italy","institution_ids":["https://openalex.org/I4210123352"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Marina DiStefano","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":"Marina DiStefano","raw_affiliation_strings":["Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Martin Zenker","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210138551","display_name":"University Hospital Magdeburg","ror":"https://ror.org/03m04df46","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210138551"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Martin Zenker","raw_affiliation_strings":["Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany","institution_ids":["https://openalex.org/I4210138551"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Reza Ahmadian","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Reza Ahmadian","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102919802","display_name":"Ryan Webb","orcid":"https://orcid.org/0009-0003-2127-3550","observed_orcids":["https://orcid.org/0009-0003-2127-3550"]},"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":"Ryan Webb","raw_affiliation_strings":["Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5028894460","display_name":"Shoji Ichikawa","orcid":"https://orcid.org/0000-0001-6477-0520","observed_orcids":["https://orcid.org/0000-0001-6477-0520"]},"institutions":[{"id":"https://openalex.org/I4210151459","display_name":"Ambry Genetics (United States)","ror":"https://ror.org/051ae8e94","country_code":"US","type":"company","lineage":["https://openalex.org/I4210151459"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Shoji Ichikawa","raw_affiliation_strings":["Ambry Genetics, Aliso Viejo, CA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ambry Genetics, Aliso Viejo, CA","institution_ids":["https://openalex.org/I4210151459"]}]}],"institutions":[],"countries_distinct_count":4,"institutions_distinct_count":13,"corresponding_author_ids":["https://openalex.org/A5003719393"],"corresponding_institution_ids":["https://openalex.org/I48633490"],"apc_list":{"value":3200,"currency":"USD","value_usd":3200},"apc_paid":{"value":3200,"currency":"USD","value_usd":3200},"fwci":8.1234,"has_fulltext":false,"cited_by_count":19,"citation_normalized_percentile":{"value":0.98559198,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":98,"max":100},"biblio":{"volume":"3","issue":null,"first_page":"103430","last_page":"103430"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":1.0,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":1.0,"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/T11310","display_name":"Connective tissue disorders research","score":0.0,"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":0.0,"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/rasopathies","display_name":"RASopathies","score":0.9079999923706055},{"id":"https://openalex.org/keywords/variant-interpretation","display_name":"variant interpretation","score":0.7160000205039978},{"id":"https://openalex.org/keywords/acmg-amp-guidelines","display_name":"ACMG/AMP guidelines","score":0.9110000133514404},{"id":"https://openalex.org/keywords/gene-disease-association","display_name":"gene-disease association","score":0.7860000133514404},{"id":"https://openalex.org/keywords/recessive-inheritance","display_name":"recessive inheritance","score":0.7310000061988831},{"id":"https://openalex.org/keywords/dominant-inheritance","display_name":"dominant inheritance","score":0.7979999780654907},{"id":"https://openalex.org/keywords/rare-mendelian-disorders","display_name":"rare Mendelian disorders","score":0.8889999985694885}],"concepts":[{"id":"https://openalex.org/C527412718","wikidata":"https://www.wikidata.org/wiki/Q855395","display_name":"Interpretation (philosophy)","level":2,"score":0.6949445009231567},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.5206395983695984},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.4628984034061432},{"id":"https://openalex.org/C199360897","wikidata":"https://www.wikidata.org/wiki/Q9143","display_name":"Programming language","level":1,"score":0.309281587600708},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.22126716375350952}],"mesh":[],"locations_count":5,"locations":[{"id":"doi:10.1016/j.gimo.2025.103430","doi":"https://doi.org/10.1016/j.gimo.2025.103430","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.gimo.2025.103430","pdf_url":null,"source":{"id":"https://openalex.org/S4387287141","display_name":"Genetics in Medicine Open","issn_l":"2949-7744","issn":["2949-7744"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","jufo-1","ki-jl-1"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genetics in Medicine Open","raw_type":"journal-article"},{"id":"pmh:oai:europepmc.org:10963971","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/12151217","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:12151217","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/12151217","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genet Med Open","raw_type":"Text"},{"id":"pmid:40496714","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/40496714","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":"Genetics in medicine open","raw_type":"Journal Article"},{"id":"pmh:oai:doaj.org/article:b78eaa9881a3495fa8c8d5da9e6a499c","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/b78eaa9881a3495fa8c8d5da9e6a499c","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Genetics in Medicine Open, Vol 3, Iss , Pp 103430- (2025)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1016/j.gimo.2025.103430","doi":"https://doi.org/10.1016/j.gimo.2025.103430","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.gimo.2025.103430","pdf_url":null,"source":{"id":"https://openalex.org/S4387287141","display_name":"Genetics in Medicine Open","issn_l":"2949-7744","issn":["2949-7744"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","jufo-1","ki-jl-1"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genetics in Medicine Open","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.8048999905586243,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G2719014539","display_name":"Expert curation of clinically significant variants in genes for early onset retinal degeneration","funder_award_id":"U24EY033699","funder_id":"https://openalex.org/F4320337350","funder_display_name":"National Eye Institute"},{"id":"https://openalex.org/G2921227375","display_name":null,"funder_award_id":"IG-28768","funder_id":"https://openalex.org/F4320323054","funder_display_name":"Associazione Italiana per la Ricerca sul Cancro"},{"id":"https://openalex.org/G325310976","display_name":null,"funder_award_id":"5x1000_2024","funder_id":"https://openalex.org/F4320321781","funder_display_name":"Ministero della Salute"},{"id":"https://openalex.org/G3670340239","display_name":"ClinGen Expert Curation Panel for Severe Structural Anomalies and Stillbirth","funder_award_id":"U24HD104588","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"},{"id":"https://openalex.org/G3984118416","display_name":null,"funder_award_id":"101085231","funder_id":"https://openalex.org/F4320320300","funder_display_name":"European Commission"},{"id":"https://openalex.org/G4282310824","display_name":"The Clinical Genome Resource - Expert Curation and EHR Integration","funder_award_id":"U41HG009650","funder_id":"https://openalex.org/F4320337348","funder_display_name":"National Human Genome Research Institute"},{"id":"https://openalex.org/G447412590","display_name":"Congenital Heart Disease Expert Curation Panel","funder_award_id":"U24HD104592","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"},{"id":"https://openalex.org/G5336917635","display_name":"Clinical Genome Resource","funder_award_id":"U41HG006834","funder_id":"https://openalex.org/F4320337348","funder_display_name":"National Human Genome Research Institute"},{"id":"https://openalex.org/G5718668506","display_name":"Gene Curation Expert Panel for Syndromic Disorders","funder_award_id":"U24HD104591","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"},{"id":"https://openalex.org/G5852627093","display_name":"InSiGHT-ClinGen Polyposis/Colon Cancer Variant Curation Expert Panel","funder_award_id":"U24CA258119","funder_id":"https://openalex.org/F4320337351","funder_display_name":"National Cancer Institute"},{"id":"https://openalex.org/G6692007091","display_name":"Genomic Expert Curation Panels for Pediatric Malignancies","funder_award_id":"U24CA258115","funder_id":"https://openalex.org/F4320337351","funder_display_name":"National Cancer Institute"},{"id":"https://openalex.org/G6993661028","display_name":null,"funder_award_id":"FKZ 01GM1902A","funder_id":"https://openalex.org/F4320321114","funder_display_name":"Bundesministerium f\u00fcr Bildung und Forschung"},{"id":"https://openalex.org/G714809597","display_name":"Primary Mitochondrial Disease Expert Curation Panel","funder_award_id":"U24HD093483","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"},{"id":"https://openalex.org/G8561762494","display_name":"Comprehensive gene and DNA variant curation for neuromuscular diseases","funder_award_id":"U24NS120858","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"},{"id":"https://openalex.org/G8906865761","display_name":"Clinical Genome Resource (ClinGen)","funder_award_id":"U41HG009649","funder_id":"https://openalex.org/F4320337348","funder_display_name":"National Human Genome Research Institute"},{"id":"https://openalex.org/G9000862159","display_name":"Broad-Geisinger Clinical Genome Resource","funder_award_id":"U24HG006834","funder_id":"https://openalex.org/F4320337348","funder_display_name":"National Human Genome Research Institute"},{"id":"https://openalex.org/G9000868200","display_name":"Myeloid Malignancy Variant Curation Expert Panel","funder_award_id":"U24CA258118","funder_id":"https://openalex.org/F4320337351","funder_display_name":"National Cancer Institute"},{"id":"https://openalex.org/G9000894322","display_name":"ClinGen Expert Curation Panel for the Epilepsies","funder_award_id":"U24NS120854","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"},{"id":"https://openalex.org/G9000903336","display_name":"Expert curation of sequence variants in the proximal urea cycle genes","funder_award_id":"U24HD108087","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"},{"id":"https://openalex.org/G9000905515","display_name":"Curation Expert Panels for BRCA1/2 and Hereditary Breast, Ovarian and Pancreatic (HBOP) Cancer Genes","funder_award_id":"U24CA258058","funder_id":"https://openalex.org/F4320337351","funder_display_name":"National Cancer Institute"},{"id":"https://openalex.org/G9000907045","display_name":"Curation of genetic defects causing combined immunodeficiency and infections in children","funder_award_id":"U24HD104590","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"},{"id":"https://openalex.org/G9000912422","display_name":"Integrative Curation of Clinically Relevant Variants in X-Linked Inherited Retinal Disease Genes","funder_award_id":"U24EY032451","funder_id":"https://openalex.org/F4320337350","funder_display_name":"National Eye Institute"}],"funders":[{"id":"https://openalex.org/F4320320300","display_name":"European Commission","ror":"https://ror.org/00k4n6c32"},{"id":"https://openalex.org/F4320321114","display_name":"Bundesministerium f\u00fcr Bildung und Forschung","ror":"https://ror.org/04pz7b180"},{"id":"https://openalex.org/F4320321781","display_name":"Ministero della Salute","ror":"https://ror.org/00789fa95"},{"id":"https://openalex.org/F4320323054","display_name":"Associazione Italiana per la Ricerca sul Cancro","ror":"https://ror.org/02g2x7380"},{"id":"https://openalex.org/F4320337348","display_name":"National Human Genome Research Institute","ror":"https://ror.org/00baak391"},{"id":"https://openalex.org/F4320337350","display_name":"National Eye Institute","ror":"https://ror.org/03wkg3b53"},{"id":"https://openalex.org/F4320337351","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81"},{"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":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":43,"referenced_works":["https://openalex.org/W1644197353","https://openalex.org/W1969350453","https://openalex.org/W1994157431","https://openalex.org/W1995612782","https://openalex.org/W2017291824","https://openalex.org/W2026725804","https://openalex.org/W2046775217","https://openalex.org/W2051978340","https://openalex.org/W2053733865","https://openalex.org/W2108100369","https://openalex.org/W2112451232","https://openalex.org/W2121741289","https://openalex.org/W2129901774","https://openalex.org/W2274532044","https://openalex.org/W2356454710","https://openalex.org/W2462226918","https://openalex.org/W2521967673","https://openalex.org/W2575877519","https://openalex.org/W2593308224","https://openalex.org/W2595455619","https://openalex.org/W2789467029","https://openalex.org/W2791145262","https://openalex.org/W2861740549","https://openalex.org/W2896832111","https://openalex.org/W2897067527","https://openalex.org/W2897746710","https://openalex.org/W2898562606","https://openalex.org/W2902760694","https://openalex.org/W2902931447","https://openalex.org/W2951101345","https://openalex.org/W2952668681","https://openalex.org/W2952683165","https://openalex.org/W2952728907","https://openalex.org/W2967605415","https://openalex.org/W2980642377","https://openalex.org/W2986707089","https://openalex.org/W3005785247","https://openalex.org/W3035641165","https://openalex.org/W4210729786","https://openalex.org/W4220902068","https://openalex.org/W4285088425","https://openalex.org/W4309643822","https://openalex.org/W4381620505"],"related_works":["https://openalex.org/W2789467029","https://openalex.org/W7169684692","https://openalex.org/W7169659833","https://openalex.org/W7169664534","https://openalex.org/W7169684411","https://openalex.org/W7169669916","https://openalex.org/W7169666121","https://openalex.org/W7169666782","https://openalex.org/W7169677003","https://openalex.org/W7169673064"],"abstract_inverted_index":{"Purpose:":[0],"The":[1,56,83],"ClinGen":[2,144],"RASopathy":[3,12,77,169],"(RAS)":[4],"Variant":[5,146],"Curation":[6,59],"Expert":[7,60],"Panel":[8,61],"(VCEP)":[9],"previously":[10,94],"established":[11],"specifications":[13,73,78,88,117,170,188],"to":[14,74,108,114,120,138],"the":[15,42,67,71,80,143,172],"American":[16],"College":[17],"of":[18,26,44,85,151,174,186],"Medical":[19],"Genetics":[20],"and":[21,24,36,46,66,97,135,180],"Genomics":[22],"(ACMG)":[23],"Association":[25],"Molecular":[27],"Pathology":[28],"(AMP)":[29],"variant":[30,38],"classification":[31,173],"framework":[32],"for":[33,79,124,132,196],"more":[34],"consistent":[35],"accurate":[37],"classification.":[39],"Advances":[40],"in":[41,157,182],"understanding":[43],"RASopathies":[45],"new":[47,99],"clinical":[48],"genetic":[49],"testing":[50],"algorithms":[51],"required":[52],"updated":[53,76,87],"specifications.":[54],"Methods:":[55],"RAS":[57,68,162],"Gene":[58],"recurated":[62],"6":[63],"gene-disease":[64,104],"relationships,":[65],"VCEP":[69,163],"evaluated":[70],"previous":[72,161],"develop":[75],"ACMG/AMP":[81,122],"framework.":[82],"performance":[84],"these":[86,187],"was":[89,112],"tested":[90],"by":[91],"reassessing":[92],"59":[93],"classified":[95],"variants":[96,152,175],"88":[98],"pilot":[100],"variants.":[101],"Results:":[102],"Five":[103],"relationships":[105],"were":[106,118],"upgraded":[107,113],"Definitive,":[109],"whereas":[110],"1":[111],"Moderate.":[115],"Updated":[116,168],"applied":[119],"11":[121],"criteria":[123,131,137],"disorders":[125],"with":[126,140,160,177],"a":[127,194],"dominant":[128],"inheritance,":[129,134],"3":[130],"recessive":[133,178],"4":[136],"align":[139],"recommendations":[141],"from":[142],"Sequence":[145],"Interpretation":[147],"Working":[148],"Group.":[149],"Assessment":[150],"demonstrated":[153],"no":[154],"major":[155],"shifts":[156],"classifications":[158],"compared":[159],"or":[164],"ClinVar":[165],"classifications.":[166],"Conclusion:":[167],"improve":[171],"associated":[176],"disease":[179],"observed":[181],"exome/genome":[183],"cases.":[184],"Most":[185],"may":[189],"also":[190],"be":[191],"used":[192],"as":[193],"baseline":[195],"other":[197],"rare":[198],"Mendelian":[199],"disorders.":[200]},"counts_by_year":[{"year":2026,"cited_by_count":13},{"year":2025,"cited_by_count":6}],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2025-04-18T00:00:00"}
