{"id":"https://openalex.org/W4404858368","doi":"https://doi.org/10.1007/978-3-031-62945-7_4","title":"Noonan Syndrome","display_name":"Noonan Syndrome","publication_year":2024,"publication_date":"2024-01-01","ids":{"openalex":"https://openalex.org/W4404858368","doi":"https://doi.org/10.1007/978-3-031-62945-7_4"},"language":"en","primary_location":{"id":"doi:10.1007/978-3-031-62945-7_4","doi":"https://doi.org/10.1007/978-3-031-62945-7_4","is_oa":false,"landing_page_url":"https://doi.org/10.1007/978-3-031-62945-7_4","pdf_url":null,"source":{"id":"https://openalex.org/S4306463937","display_name":"Springer eBooks","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"ebook platform"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The RASopathies","raw_type":"book-chapter"},"volume":{"id":"https://openalex.org/W4404858175","display_name":"The RASopathies"},"type":"book-chapter","indexed_in":["crossref"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5056459227","display_name":"Amy E. Roberts","orcid":"https://orcid.org/0000-0001-5827-8521","observed_orcids":["https://orcid.org/0000-0001-5827-8521"]},"institutions":[{"id":"https://openalex.org/I1288882113","display_name":"Boston Children's Hospital","ror":"https://ror.org/00dvg7y05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1288882113"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Amy E. Roberts","raw_affiliation_strings":["Department of Cardiology and Department of Pediatrics, Division of Genetics, Boston Children\u2019s Hospital, Boston, MA, USA","Harvard Medical School, Boston, MA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cardiology and Department of Pediatrics, Division of Genetics, Boston Children\u2019s Hospital, Boston, MA, USA","institution_ids":["https://openalex.org/I1288882113"]},{"raw_affiliation_string":"Harvard Medical School, Boston, MA, USA","institution_ids":["https://openalex.org/I136199984"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5056459227"],"corresponding_institution_ids":["https://openalex.org/I1288882113","https://openalex.org/I136199984"],"apc_list":null,"apc_paid":null,"fwci":1.7251,"has_fulltext":false,"cited_by_count":2,"citation_normalized_percentile":{"value":0.85739561,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":90,"max":96},"biblio":{"volume":null,"issue":null,"first_page":"79","last_page":"105"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12104","display_name":"Protein Tyrosine Phosphatases","score":0.9740999937057495,"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"}},"topics":[{"id":"https://openalex.org/T12104","display_name":"Protein Tyrosine Phosphatases","score":0.9740999937057495,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.014499999582767487,"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":0.0012000000569969416,"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/noonan-syndrome","display_name":"Noonan syndrome","score":1.0},{"id":"https://openalex.org/keywords/autosomal-dominant-disorder","display_name":"autosomal dominant disorder","score":0.8220000267028809},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.8709999918937683},{"id":"https://openalex.org/keywords/developmental-delay","display_name":"developmental delay","score":0.7570000290870667},{"id":"https://openalex.org/keywords/short-stature","display_name":"short stature","score":0.7459999918937683},{"id":"https://openalex.org/keywords/congenital-heart-disease","display_name":"congenital heart disease","score":0.8029999732971191},{"id":"https://openalex.org/keywords/renal-anomalies","display_name":"renal anomalies","score":0.8240000009536743},{"id":"https://openalex.org/keywords/lymphatic-malformation","display_name":"lymphangioma","score":0.972000002861023},{"id":"https://openalex.org/keywords/genotype-testing","display_name":"genotype testing","score":0.6959999799728394},{"id":"https://openalex.org/keywords/pathway-inhibitors","display_name":"pathway inhibitors","score":0.7670000195503235},{"id":"https://openalex.org/keywords/neurodevelopmental-complications","display_name":"neurodevelopmental complications","score":0.9350000023841858},{"id":"https://openalex.org/keywords/neuropsychological-assessment","display_name":"neuropsychological assessment","score":0.7670000195503235},{"id":"https://openalex.org/keywords/anticipatory-guidance","display_name":"anticipatory guidance","score":0.6179999709129333},{"id":"https://openalex.org/keywords/chylous-effusion","display_name":"chylous effusion","score":0.7639999985694885},{"id":"https://openalex.org/keywords/cancer-risk","display_name":"cancer risk","score":0.6439999938011169}],"concepts":[{"id":"https://openalex.org/C2776149932","wikidata":"https://www.wikidata.org/wiki/Q1543446","display_name":"Noonan syndrome","level":2,"score":0.7608526945114136},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.3111467659473419},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.05187058448791504}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1007/978-3-031-62945-7_4","doi":"https://doi.org/10.1007/978-3-031-62945-7_4","is_oa":false,"landing_page_url":"https://doi.org/10.1007/978-3-031-62945-7_4","pdf_url":null,"source":{"id":"https://openalex.org/S4306463937","display_name":"Springer eBooks","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"ebook platform"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The RASopathies","raw_type":"book-chapter"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9763000011444092,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":80,"referenced_works":["https://openalex.org/W83722308","https://openalex.org/W1974901078","https://openalex.org/W1990645035","https://openalex.org/W1998218203","https://openalex.org/W2001615549","https://openalex.org/W2007518585","https://openalex.org/W2013486506","https://openalex.org/W2016389607","https://openalex.org/W2024924987","https://openalex.org/W2028416019","https://openalex.org/W2036645740","https://openalex.org/W2041022299","https://openalex.org/W2050333023","https://openalex.org/W2059387110","https://openalex.org/W2074342787","https://openalex.org/W2093023834","https://openalex.org/W2099625528","https://openalex.org/W2101074866","https://openalex.org/W2118518474","https://openalex.org/W2129317874","https://openalex.org/W2134931731","https://openalex.org/W2137844084","https://openalex.org/W2140408745","https://openalex.org/W2143454794","https://openalex.org/W2146107927","https://openalex.org/W2165219392","https://openalex.org/W2168636666","https://openalex.org/W2258963167","https://openalex.org/W2279544526","https://openalex.org/W2587945309","https://openalex.org/W2605742909","https://openalex.org/W2617474288","https://openalex.org/W2739347113","https://openalex.org/W2774320925","https://openalex.org/W2789869568","https://openalex.org/W2807097730","https://openalex.org/W2894688515","https://openalex.org/W2900571779","https://openalex.org/W2904004453","https://openalex.org/W2906820397","https://openalex.org/W2943310425","https://openalex.org/W2950901547","https://openalex.org/W2975118200","https://openalex.org/W2982465660","https://openalex.org/W3004779095","https://openalex.org/W3008038190","https://openalex.org/W3010100984","https://openalex.org/W3023756812","https://openalex.org/W3043540139","https://openalex.org/W3124255476","https://openalex.org/W3132671183","https://openalex.org/W3151702711","https://openalex.org/W3179520877","https://openalex.org/W3192281618","https://openalex.org/W3198539472","https://openalex.org/W3198674942","https://openalex.org/W3200670111","https://openalex.org/W3201017415","https://openalex.org/W4200375913","https://openalex.org/W4200615161","https://openalex.org/W4210616156","https://openalex.org/W4210729786","https://openalex.org/W4213351467","https://openalex.org/W4220893410","https://openalex.org/W4254016404","https://openalex.org/W4280521166","https://openalex.org/W4309245905","https://openalex.org/W4309412695","https://openalex.org/W4309507682","https://openalex.org/W4309679269","https://openalex.org/W4310496970","https://openalex.org/W4311487220","https://openalex.org/W4311927056","https://openalex.org/W4312045825","https://openalex.org/W4315865139","https://openalex.org/W4319311650","https://openalex.org/W4322217338","https://openalex.org/W4324030007","https://openalex.org/W4352998043","https://openalex.org/W4366368403"],"related_works":["https://openalex.org/W2945367316","https://openalex.org/W282581152","https://openalex.org/W2604980806","https://openalex.org/W2014513837","https://openalex.org/W51508446","https://openalex.org/W1552100672","https://openalex.org/W1218556941","https://openalex.org/W7135094851","https://openalex.org/W6888880616","https://openalex.org/W2070103516"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":1}],"updated_date":"2026-10-28T10:33:24.094632","created_date":"2024-11-30T00:00:00"}