Get quick answers to your questions about the article from our AI researcher chatbot
{'id': 'https://openalex.org/W2040059660', 'doi': 'https://doi.org/10.1097/mph.0b013e3180547136', 'title': 'Leukemia in Cardio-facio-cutaneous (CFC) Syndrome: A Patient With a Germline Mutation in BRAF Proto-oncogene', 'display_name': 'Leukemia in Cardio-facio-cutaneous (CFC) Syndrome: A Patient With a Germline Mutation in BRAF Proto-oncogene', 'publication_year': 2007, 'publication_date': '2007-04-30', 'ids': {'openalex': 'https://openalex.org/W2040059660', 'doi': 'https://doi.org/10.1097/mph.0b013e3180547136', 'mag': '2040059660', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/17483702'}, 'language': 'en', 'primary_location': {'is_oa': False, 'landing_page_url': 'https://doi.org/10.1097/mph.0b013e3180547136', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S15952725', 'display_name': 'Journal of Pediatric Hematology/Oncology', 'issn_l': '1077-4114', 'issn': ['1077-4114', '1536-3678'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310315671', 'host_organization_name': 'Lippincott Williams & Wilkins', 'host_organization_lineage': ['https://openalex.org/P4310315671', 'https://openalex.org/P4310318547'], 'host_organization_lineage_names': ['Lippincott Williams & Wilkins', 'Wolters Kluwer'], 'type': 'journal'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}, 'type': 'article', 'type_crossref': 'journal-article', 'indexed_in': ['crossref', 'pubmed'], 'open_access': {'is_oa': True, 'oa_status': 'green', 'oa_url': 'http://amcor.asahikawa-med.ac.jp/modules/xoonips/download.php?id=17483702', 'any_repository_has_fulltext': True}, 'authorships': [{'author_position': 'first', 'author': {'id': 'https://openalex.org/A5005242725', 'display_name': 'Yoshio Makita', 'orcid': 'https://orcid.org/0000-0002-0341-5709'}, 'institutions': [{'id': 'https://openalex.org/I127036137', 'display_name': 'Asahikawa Medical College Hospital', 'ror': 'https://ror.org/00ftrxq20', 'country_code': 'JP', 'type': 'healthcare', 'lineage': ['https://openalex.org/I127036137']}], 'countries': ['JP'], 'is_corresponding': True, 'raw_author_name': 'Yoshio Makita', 'raw_affiliation_strings': ['Department of Pediatrics, Asahikawa Medical College, Asahikawa'], 'affiliations': [{'raw_affiliation_string': 'Department of Pediatrics, Asahikawa Medical College, Asahikawa', 'institution_ids': ['https://openalex.org/I127036137']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5047682660', 'display_name': 'Yoko Narumi', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I201537933', 'display_name': 'Tohoku University', 'ror': 'https://ror.org/01dq60k83', 'country_code': 'JP', 'type': 'education', 'lineage': ['https://openalex.org/I201537933']}], 'countries': ['JP'], 'is_corresponding': False, 'raw_author_name': 'Yoko Narumi', 'raw_affiliation_strings': ['Department of Medical Genetics, Tohoku University School of Medicine'], 'affiliations': [{'raw_affiliation_string': 'Department of Medical Genetics, Tohoku University School of Medicine', 'institution_ids': ['https://openalex.org/I201537933']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5022406738', 'display_name': 'Makoto Yoshida', 'orcid': 'https://orcid.org/0000-0001-6367-3470'}, 'institutions': [{'id': 'https://openalex.org/I127036137', 'display_name': 'Asahikawa Medical College Hospital', 'ror': 'https://ror.org/00ftrxq20', 'country_code': 'JP', 'type': 'healthcare', 'lineage': ['https://openalex.org/I127036137']}], 'countries': ['JP'], 'is_corresponding': True, 'raw_author_name': 'Makoto Yoshida', 'raw_affiliation_strings': ['Department of Pediatrics, Asahikawa Medical College, Asahikawa'], 'affiliations': [{'raw_affiliation_string': 'Department of Pediatrics, Asahikawa Medical College, Asahikawa', 'institution_ids': ['https://openalex.org/I127036137']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5005615341', 'display_name': 'Tetsuya Niihori', 'orcid': 'https://orcid.org/0000-0002-2118-9776'}, 'institutions': [{'id': 'https://openalex.org/I201537933', 'display_name': 'Tohoku University', 'ror': 'https://ror.org/01dq60k83', 'country_code': 'JP', 'type': 'education', 'lineage': ['https://openalex.org/I201537933']}], 'countries': ['JP'], 'is_corresponding': False, 'raw_author_name': 'Tetsuya Niihori', 'raw_affiliation_strings': ['Department of Medical Genetics, Tohoku University School of Medicine'], 'affiliations': [{'raw_affiliation_string': 'Department of Medical Genetics, Tohoku University School of Medicine', 'institution_ids': ['https://openalex.org/I201537933']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5073879473', 'display_name': 'Shigeo Kure', 'orcid': 'https://orcid.org/0000-0001-8524-4925'}, 'institutions': [{'id': 'https://openalex.org/I201537933', 'display_name': 'Tohoku University', 'ror': 'https://ror.org/01dq60k83', 'country_code': 'JP', 'type': 'education', 'lineage': ['https://openalex.org/I201537933']}], 'countries': ['JP'], 'is_corresponding': False, 'raw_author_name': 'Shigeo Kure', 'raw_affiliation_strings': ['Department of Medical Genetics, Tohoku University School of Medicine'], 'affiliations': [{'raw_affiliation_string': 'Department of Medical Genetics, Tohoku University School of Medicine', 'institution_ids': ['https://openalex.org/I201537933']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5100836670', 'display_name': 'Kenji Fujieda', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I127036137', 'display_name': 'Asahikawa Medical College Hospital', 'ror': 'https://ror.org/00ftrxq20', 'country_code': 'JP', 'type': 'healthcare', 'lineage': ['https://openalex.org/I127036137']}], 'countries': ['JP'], 'is_corresponding': True, 'raw_author_name': 'Kenji Fujieda', 'raw_affiliation_strings': ['Department of Pediatrics, Asahikawa Medical College, Asahikawa'], 'affiliations': [{'raw_affiliation_string': 'Department of Pediatrics, Asahikawa Medical College, Asahikawa', 'institution_ids': ['https://openalex.org/I127036137']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5102725011', 'display_name': 'Yoichi Matsubara', 'orcid': 'https://orcid.org/0000-0001-5990-8214'}, 'institutions': [{'id': 'https://openalex.org/I201537933', 'display_name': 'Tohoku University', 'ror': 'https://ror.org/01dq60k83', 'country_code': 'JP', 'type': 'education', 'lineage': ['https://openalex.org/I201537933']}], 'countries': ['JP'], 'is_corresponding': False, 'raw_author_name': 'Yoichi Matsubara', 'raw_affiliation_strings': ['Department of Medical Genetics, Tohoku University School of Medicine', 'Tohoku University 21st Century COE Program "Comprehensive Research and Education Center for Planning of Drug Development and Clinical Evaluation," Sendai, Japan'], 'affiliations': [{'raw_affiliation_string': 'Tohoku University 21st Century COE Program "Comprehensive Research and Education Center for Planning of Drug Development and Clinical Evaluation," Sendai, Japan', 'institution_ids': ['https://openalex.org/I201537933']}, {'raw_affiliation_string': 'Department of Medical Genetics, Tohoku University School of Medicine', 'institution_ids': ['https://openalex.org/I201537933']}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5060474613', 'display_name': 'Yoko Aoki', 'orcid': 'https://orcid.org/0000-0002-1194-6972'}, 'institutions': [{'id': 'https://openalex.org/I201537933', 'display_name': 'Tohoku University', 'ror': 'https://ror.org/01dq60k83', 'country_code': 'JP', 'type': 'education', 'lineage': ['https://openalex.org/I201537933']}], 'countries': ['JP'], 'is_corresponding': False, 'raw_author_name': 'Yoko Aoki', 'raw_affiliation_strings': ['Department of Medical Genetics, Tohoku University School of Medicine'], 'affiliations': [{'raw_affiliation_string': 'Department of Medical Genetics, Tohoku University School of Medicine', 'institution_ids': ['https://openalex.org/I201537933']}]}], 'institution_assertions': [], 'countries_distinct_count': 1, 'institutions_distinct_count': 2, 'corresponding_author_ids': ['https://openalex.org/A5005242725', 'https://openalex.org/A5022406738', 'https://openalex.org/A5100836670'], 'corresponding_institution_ids': ['https://openalex.org/I127036137', 'https://openalex.org/I127036137', 'https://openalex.org/I127036137'], 'apc_list': None, 'apc_paid': None, 'fwci': 3.7, 'has_fulltext': True, 'fulltext_origin': 'pdf', 'cited_by_count': 60, 'citation_normalized_percentile': {'value': 0.876241, 'is_in_top_1_percent': False, 'is_in_top_10_percent': False}, 'cited_by_percentile_year': {'min': 94, 'max': 95}, 'biblio': {'volume': '29', 'issue': '5', 'first_page': '287', 'last_page': '290'}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T12104', 'display_name': 'Protein Tyrosine Phosphatases', 'score': 1.0, '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': 1.0, '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/T12387', 'display_name': 'Galectins and Cancer Biology', 'score': 0.9907, 'subfield': {'id': 'https://openalex.org/subfields/2403', 'display_name': 'Immunology'}, 'field': {'id': 'https://openalex.org/fields/24', 'display_name': 'Immunology and Microbiology'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}, {'id': 'https://openalex.org/T12505', 'display_name': 'Peptidase Inhibition and Analysis', 'score': 0.9846, 'subfield': {'id': 'https://openalex.org/subfields/2730', 'display_name': 'Oncology'}, '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/hras', 'display_name': 'HRAS', 'score': 0.902625}, {'id': 'https://openalex.org/keywords/ptpn11', 'display_name': 'PTPN11', 'score': 0.86127007}, {'id': 'https://openalex.org/keywords/noonan-syndrome', 'display_name': 'Noonan Syndrome', 'score': 0.76267254}, {'id': 'https://openalex.org/keywords/costello-syndrome', 'display_name': 'Costello syndrome', 'score': 0.74472815}], 'concepts': [{'id': 'https://openalex.org/C1167327', 'wikidata': 'https://www.wikidata.org/wiki/Q14884140', 'display_name': 'HRAS', 'level': 5, 'score': 0.902625}, {'id': 'https://openalex.org/C31734879', 'wikidata': 'https://www.wikidata.org/wiki/Q14905494', 'display_name': 'PTPN11', 'level': 5, 'score': 0.86127007}, {'id': 'https://openalex.org/C2781187634', 'wikidata': 'https://www.wikidata.org/wiki/Q20969980', 'display_name': 'KRAS', 'level': 4, 'score': 0.82725936}, {'id': 'https://openalex.org/C71924100', 'wikidata': 'https://www.wikidata.org/wiki/Q11190', 'display_name': 'Medicine', 'level': 0, 'score': 0.79731154}, {'id': 'https://openalex.org/C2776149932', 'wikidata': 'https://www.wikidata.org/wiki/Q1543446', 'display_name': 'Noonan syndrome', 'level': 2, 'score': 0.76267254}, {'id': 'https://openalex.org/C2779944767', 'wikidata': 'https://www.wikidata.org/wiki/Q1136492', 'display_name': 'Costello syndrome', 'level': 5, 'score': 0.74472815}, {'id': 'https://openalex.org/C13514818', 'wikidata': 'https://www.wikidata.org/wiki/Q5552256', 'display_name': 'Germline mutation', 'level': 4, 'score': 0.6420144}, {'id': 'https://openalex.org/C21790070', 'wikidata': 'https://www.wikidata.org/wiki/Q18030215', 'display_name': 'Neuroblastoma RAS viral oncogene homolog', 'level': 5, 'score': 0.5991386}, {'id': 'https://openalex.org/C502942594', 'wikidata': 'https://www.wikidata.org/wiki/Q3421914', 'display_name': 'Cancer research', 'level': 1, 'score': 0.5883709}, {'id': 'https://openalex.org/C109825262', 'wikidata': 'https://www.wikidata.org/wiki/Q1139164', 'display_name': 'Germline', 'level': 3, 'score': 0.58061403}, {'id': 'https://openalex.org/C2779399171', 'wikidata': 'https://www.wikidata.org/wiki/Q1483951', 'display_name': 'Malignancy', 'level': 2, 'score': 0.48542055}, {'id': 'https://openalex.org/C501734568', 'wikidata': 'https://www.wikidata.org/wiki/Q42918', 'display_name': 'Mutation', 'level': 3, 'score': 0.45196894}, {'id': 'https://openalex.org/C126322002', 'wikidata': 'https://www.wikidata.org/wiki/Q11180', 'display_name': 'Internal medicine', 'level': 1, 'score': 0.31642312}, {'id': 'https://openalex.org/C104317684', 'wikidata': 'https://www.wikidata.org/wiki/Q7187', 'display_name': 'Gene', 'level': 2, 'score': 0.25598973}, {'id': 'https://openalex.org/C121608353', 'wikidata': 'https://www.wikidata.org/wiki/Q12078', 'display_name': 'Cancer', 'level': 2, 'score': 0.2522036}, {'id': 'https://openalex.org/C54355233', 'wikidata': 'https://www.wikidata.org/wiki/Q7162', 'display_name': 'Genetics', 'level': 1, 'score': 0.24524492}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.13674566}, {'id': 'https://openalex.org/C526805850', 'wikidata': 'https://www.wikidata.org/wiki/Q188874', 'display_name': 'Colorectal cancer', 'level': 3, 'score': 0.0836474}], 'mesh': [{'descriptor_ui': 'D000015', 'descriptor_name': 'Abnormalities, Multiple', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D019465', 'descriptor_name': 'Craniofacial Abnormalities', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D018095', 'descriptor_name': 'Germ-Line Mutation', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D006330', 'descriptor_name': 'Heart Defects, Congenital', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D054198', 'descriptor_name': 'Precursor Cell Lymphoblastic Leukemia-Lymphoma', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D048493', 'descriptor_name': 'Proto-Oncogene Proteins B-raf', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D012868', 'descriptor_name': 'Skin Abnormalities', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D000015', 'descriptor_name': 'Abnormalities, Multiple', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D000015', 'descriptor_name': 'Abnormalities, Multiple', 'qualifier_ui': 'Q000628', 'qualifier_name': 'therapy', 'is_major_topic': False}, {'descriptor_ui': 'D000015', 'descriptor_name': 'Abnormalities, Multiple', 'qualifier_ui': 'Q000175', 'qualifier_name': 'diagnosis', 'is_major_topic': False}, {'descriptor_ui': 'D002648', 'descriptor_name': 'Child', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D019465', 'descriptor_name': 'Craniofacial Abnormalities', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D019465', 'descriptor_name': 'Craniofacial Abnormalities', 'qualifier_ui': 'Q000175', 'qualifier_name': 'diagnosis', 'is_major_topic': False}, {'descriptor_ui': 'D019465', 'descriptor_name': 'Craniofacial Abnormalities', 'qualifier_ui': 'Q000628', 'qualifier_name': 'therapy', 'is_major_topic': False}, {'descriptor_ui': 'D020732', 'descriptor_name': 'Cytogenetic Analysis', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D020732', 'descriptor_name': 'Cytogenetic Analysis', 'qualifier_ui': 'Q000379', 'qualifier_name': 'methods', 'is_major_topic': False}, {'descriptor_ui': 'D005145', 'descriptor_name': 'Face', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D005145', 'descriptor_name': 'Face', 'qualifier_ui': 'Q000002', 'qualifier_name': 'abnormalities', 'is_major_topic': False}, {'descriptor_ui': 'D018095', 'descriptor_name': 'Germ-Line Mutation', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D006330', 'descriptor_name': 'Heart Defects, Congenital', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D006330', 'descriptor_name': 'Heart Defects, Congenital', 'qualifier_ui': 'Q000175', 'qualifier_name': 'diagnosis', 'is_major_topic': False}, {'descriptor_ui': 'D006330', 'descriptor_name': 'Heart Defects, Congenital', 'qualifier_ui': 'Q000628', 'qualifier_name': 'therapy', 'is_major_topic': False}, {'descriptor_ui': 'D006801', 'descriptor_name': 'Humans', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D008607', 'descriptor_name': 'Intellectual Disability', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D008607', 'descriptor_name': 'Intellectual Disability', 'qualifier_ui': 'Q000175', 'qualifier_name': 'diagnosis', 'is_major_topic': False}, {'descriptor_ui': 'D008607', 'descriptor_name': 'Intellectual Disability', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D008607', 'descriptor_name': 'Intellectual Disability', 'qualifier_ui': 'Q000628', 'qualifier_name': 'therapy', 'is_major_topic': False}, {'descriptor_ui': 'D008297', 'descriptor_name': 'Male', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D054198', 'descriptor_name': 'Precursor Cell Lymphoblastic Leukemia-Lymphoma', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D054198', 'descriptor_name': 'Precursor Cell Lymphoblastic Leukemia-Lymphoma', 'qualifier_ui': 'Q000175', 'qualifier_name': 'diagnosis', 'is_major_topic': False}, {'descriptor_ui': 'D054198', 'descriptor_name': 'Precursor Cell Lymphoblastic Leukemia-Lymphoma', 'qualifier_ui': 'Q000628', 'qualifier_name': 'therapy', 'is_major_topic': False}, {'descriptor_ui': 'D000090063', 'descriptor_name': 'Proto-Oncogene Mas', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D048493', 'descriptor_name': 'Proto-Oncogene Proteins B-raf', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D017422', 'descriptor_name': 'Sequence Analysis, DNA', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D017422', 'descriptor_name': 'Sequence Analysis, DNA', 'qualifier_ui': 'Q000379', 'qualifier_name': 'methods', 'is_major_topic': False}, {'descriptor_ui': 'D012868', 'descriptor_name': 'Skin Abnormalities', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D012868', 'descriptor_name': 'Skin Abnormalities', 'qualifier_ui': 'Q000175', 'qualifier_name': 'diagnosis', 'is_major_topic': False}, {'descriptor_ui': 'D012868', 'descriptor_name': 'Skin Abnormalities', 'qualifier_ui': 'Q000628', 'qualifier_name': 'therapy', 'is_major_topic': False}, {'descriptor_ui': 'D013577', 'descriptor_name': 'Syndrome', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}], 'locations_count': 3, 'locations': [{'is_oa': False, 'landing_page_url': 'https://doi.org/10.1097/mph.0b013e3180547136', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S15952725', 'display_name': 'Journal of Pediatric Hematology/Oncology', 'issn_l': '1077-4114', 'issn': ['1077-4114', '1536-3678'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310315671', 'host_organization_name': 'Lippincott Williams & Wilkins', 'host_organization_lineage': ['https://openalex.org/P4310315671', 'https://openalex.org/P4310318547'], 'host_organization_lineage_names': ['Lippincott Williams & Wilkins', 'Wolters Kluwer'], 'type': 'journal'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}, {'is_oa': True, 'landing_page_url': 'http://amcor.asahikawa-med.ac.jp/modules/xoonips/download.php?id=17483702', 'pdf_url': 'http://amcor.asahikawa-med.ac.jp/modules/xoonips/download.php?id=17483702', 'source': {'id': 'https://openalex.org/S4306401647', 'display_name': 'Asahikawa Medical University Collection and Research (Asahikawa Medical University)', 'issn_l': None, 'issn': None, 'is_oa': True, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I147809708', 'host_organization_name': 'Asahikawa Medical University', 'host_organization_lineage': ['https://openalex.org/I147809708'], 'host_organization_lineage_names': ['Asahikawa Medical University'], 'type': 'repository'}, 'license': None, 'license_id': None, 'version': 'submittedVersion', 'is_accepted': False, 'is_published': False}, {'is_oa': False, 'landing_page_url': 'https://pubmed.ncbi.nlm.nih.gov/17483702', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S4306525036', 'display_name': 'PubMed', 'issn_l': None, 'issn': None, 'is_oa': False, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I1299303238', 'host_organization_name': 'National Institutes of Health', 'host_organization_lineage': ['https://openalex.org/I1299303238'], 'host_organization_lineage_names': ['National Institutes of Health'], 'type': 'repository'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}], 'best_oa_location': {'is_oa': True, 'landing_page_url': 'http://amcor.asahikawa-med.ac.jp/modules/xoonips/download.php?id=17483702', 'pdf_url': 'http://amcor.asahikawa-med.ac.jp/modules/xoonips/download.php?id=17483702', 'source': {'id': 'https://openalex.org/S4306401647', 'display_name': 'Asahikawa Medical University Collection and Research (Asahikawa Medical University)', 'issn_l': None, 'issn': None, 'is_oa': True, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I147809708', 'host_organization_name': 'Asahikawa Medical University', 'host_organization_lineage': ['https://openalex.org/I147809708'], 'host_organization_lineage_names': ['Asahikawa Medical University'], 'type': 'repository'}, 'license': None, 'license_id': None, 'version': 'submittedVersion', 'is_accepted': False, 'is_published': False}, 'sustainable_development_goals': [{'score': 0.82, 'id': 'https://metadata.un.org/sdg/3', 'display_name': 'Good health and well-being'}], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 35, 'referenced_works': ['https://openalex.org/W1488372279', 'https://openalex.org/W1855520113', 'https://openalex.org/W1862125219', 'https://openalex.org/W1983846697', 'https://openalex.org/W1996274092', 'https://openalex.org/W1998894469', 'https://openalex.org/W2010448925', 'https://openalex.org/W2012558297', 'https://openalex.org/W2015253486', 'https://openalex.org/W2015528122', 'https://openalex.org/W2020678778', 'https://openalex.org/W2022248034', 'https://openalex.org/W2027443611', 'https://openalex.org/W2043526463', 'https://openalex.org/W2044961658', 'https://openalex.org/W2045045176', 'https://openalex.org/W2046765223', 'https://openalex.org/W2049171090', 'https://openalex.org/W2051832425', 'https://openalex.org/W2070204715', 'https://openalex.org/W2075301039', 'https://openalex.org/W2082109402', 'https://openalex.org/W2082448876', 'https://openalex.org/W2083695927', 'https://openalex.org/W2087209022', 'https://openalex.org/W2094610127', 'https://openalex.org/W2103810478', 'https://openalex.org/W2129901774', 'https://openalex.org/W2139531608', 'https://openalex.org/W2169107409', 'https://openalex.org/W2171529739', 'https://openalex.org/W2313089992', 'https://openalex.org/W2313239467', 'https://openalex.org/W2416975755', 'https://openalex.org/W3135637599'], 'related_works': ['https://openalex.org/W4385423696', 'https://openalex.org/W3033573442', 'https://openalex.org/W2995784627', 'https://openalex.org/W2981165534', 'https://openalex.org/W2084638892', 'https://openalex.org/W2046219371', 'https://openalex.org/W1987413186', 'https://openalex.org/W1982232165', 'https://openalex.org/W1975310448', 'https://openalex.org/W1940200669'], 'abstract_inverted_index': {'Cardio-facio-cutaneous': [0], '(CFC)': [1], 'syndrome': [2, 9, 27, 103, 140], 'is': [3], 'a': [4, 12, 97, 120], 'multiple': [5], 'congenital': [6], 'anomaly/mental': [7], 'retardation': [8], 'characterized': [10], 'by': [11, 34], 'distinctive': [13], 'facial': [14], 'appearance,': [15], 'ectodermal': [16], 'abnormalities,': [17], 'and': [18, 28, 51, 59, 73, 104, 117, 130, 148], 'heart': [19], 'defects.': [20], 'Clinically,': [21], 'it': [22], 'overlaps': [23], 'with': [24, 66, 85, 101, 138], 'both': [25], 'Noonan': [26], 'Costello': [29], 'syndrome,': [30], 'which': [31], 'are': [32], 'caused': [33], 'mutations': [35, 55, 70, 145], 'in': [36, 56, 64, 71, 78, 91, 136, 146], '2': [37], 'genes': [38], 'that': [39], 'encode': [40], 'molecules': [41], 'of': [42, 110, 115], 'the': [43, 83, 111], 'RAS/MAPK': [44], '(mitogen': [45], 'activated': [46], 'protein': [47], 'kinase)': [48], 'pathway': [49], '(PTPN11': [50], 'HRAS,': [52], 'respectively).': [53], 'Recently,': [54], 'KRAS,': [57], 'BRAF,': [58], 'MEK1/2': [60], 'have': [61, 75, 143], 'been': [62, 76, 89], 'identified': [63, 77], 'patients': [65], 'CFC': [67, 92, 102, 139], 'syndrome.': [68, 93], 'Somatic': [69], 'KRAS': [72, 116], 'BRAF': [74, 118, 124], 'various': [79], 'tumors.': [80], 'In': [81], 'contrast,': [82], 'association': [84], 'malignancy': [86], 'has': [87], 'not': [88], 'noticed': [90], 'Here': [94], 'we': [95], 'report': [96], '9-year-old': [98], 'boy': [99], 'diagnosed': [100], 'acute': [105], 'lymphoblastic': [106], 'leukemia.': [107], 'Sequencing': [108], 'analysis': [109], 'entire': [112], 'coding': [113], 'region': [114], 'showed': [119], 'de': [121], 'novo': [122], 'germline': [123, 144], 'E501G': [125], '(1502A-->G)': [126], 'mutation.': [127], 'Molecular': [128], 'diagnosis': [129], 'careful': [131], 'observations': [132], 'should': [133], 'be': [134], 'considered': [135], 'children': [137], 'because': [141], 'they': [142], 'proto-oncogenes': [147], 'might': [149], 'develop': [150], 'malignancy.': [151]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W2040059660', 'counts_by_year': [{'year': 2024, 'cited_by_count': 2}, {'year': 2023, 'cited_by_count': 1}, {'year': 2022, 'cited_by_count': 2}, {'year': 2021, 'cited_by_count': 2}, {'year': 2020, 'cited_by_count': 2}, {'year': 2019, 'cited_by_count': 1}, {'year': 2016, 'cited_by_count': 4}, {'year': 2015, 'cited_by_count': 4}, {'year': 2014, 'cited_by_count': 5}, {'year': 2013, 'cited_by_count': 1}, {'year': 2012, 'cited_by_count': 2}], 'updated_date': '2024-12-15T15:13:04.966627', 'created_date': '2016-06-24'}