Get quick answers to your questions about the article from our AI researcher chatbot
{'id': 'https://openalex.org/W1974990209', 'doi': 'https://doi.org/10.1002/ajmg.a.31547', 'title': 'A variable combination of features of Noonan syndrome and neurofibromatosis type I are caused by mutations in the <i>NF1</i> gene', 'display_name': 'A variable combination of features of Noonan syndrome and neurofibromatosis type I are caused by mutations in the <i>NF1</i> gene', 'publication_year': 2006, 'publication_date': '2006-11-13', 'ids': {'openalex': 'https://openalex.org/W1974990209', 'doi': 'https://doi.org/10.1002/ajmg.a.31547', 'mag': '1974990209', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/17103458'}, 'language': 'en', 'primary_location': {'is_oa': False, 'landing_page_url': 'https://doi.org/10.1002/ajmg.a.31547', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S180901878', 'display_name': 'American Journal of Medical Genetics Part A', 'issn_l': '1552-4825', 'issn': ['1552-4825', '1552-4833'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320595', 'host_organization_name': 'Wiley', 'host_organization_lineage': ['https://openalex.org/P4310320595'], 'host_organization_lineage_names': ['Wiley'], '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': False, 'oa_status': 'closed', 'oa_url': None, 'any_repository_has_fulltext': False}, 'authorships': [{'author_position': 'first', 'author': {'id': 'https://openalex.org/A5023113317', 'display_name': 'Ulrike Hüffmeier', 'orcid': 'https://orcid.org/0000-0001-6448-4671'}, 'institutions': [{'id': 'https://openalex.org/I181369854', 'display_name': 'Friedrich-Alexander-Universität Erlangen-Nürnberg', 'ror': 'https://ror.org/00f7hpc57', 'country_code': 'DE', 'type': 'education', 'lineage': ['https://openalex.org/I181369854']}], 'countries': ['DE'], 'is_corresponding': False, 'raw_author_name': 'Ulrike Hüffmeier', 'raw_affiliation_strings': ['Institute of Human Genetics, University Erlangen-Nuremberg, Erlangen, Germany.'], 'affiliations': [{'raw_affiliation_string': 'Institute of Human Genetics, University Erlangen-Nuremberg, Erlangen, Germany.', 'institution_ids': ['https://openalex.org/I181369854']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5019664227', 'display_name': 'Martin Zenker', 'orcid': 'https://orcid.org/0000-0003-1618-9269'}, 'institutions': [{'id': 'https://openalex.org/I181369854', 'display_name': 'Friedrich-Alexander-Universität Erlangen-Nürnberg', 'ror': 'https://ror.org/00f7hpc57', 'country_code': 'DE', 'type': 'education', 'lineage': ['https://openalex.org/I181369854']}], 'countries': ['DE'], 'is_corresponding': False, 'raw_author_name': 'Martin Zenker', 'raw_affiliation_strings': ['Institute of Human Genetics, University Erlangen-Nuremberg, Erlangen, Germany.'], 'affiliations': [{'raw_affiliation_string': 'Institute of Human Genetics, University Erlangen-Nuremberg, Erlangen, Germany.', 'institution_ids': ['https://openalex.org/I181369854']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5033033652', 'display_name': 'Juliane Hoyer', 'orcid': 'https://orcid.org/0000-0002-9368-0767'}, 'institutions': [{'id': 'https://openalex.org/I181369854', 'display_name': 'Friedrich-Alexander-Universität Erlangen-Nürnberg', 'ror': 'https://ror.org/00f7hpc57', 'country_code': 'DE', 'type': 'education', 'lineage': ['https://openalex.org/I181369854']}], 'countries': ['DE'], 'is_corresponding': False, 'raw_author_name': 'Juliane Hoyer', 'raw_affiliation_strings': ['Institute of Human Genetics, University Erlangen-Nuremberg, Erlangen, Germany.'], 'affiliations': [{'raw_affiliation_string': 'Institute of Human Genetics, University Erlangen-Nuremberg, Erlangen, Germany.', 'institution_ids': ['https://openalex.org/I181369854']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5064219003', 'display_name': 'Raimund Fahsold', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I4210116470', 'display_name': 'Medical Genetics Center', 'ror': 'https://ror.org/027nwsc63', 'country_code': 'DE', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210116470']}], 'countries': ['DE'], 'is_corresponding': False, 'raw_author_name': 'Raimund Fahsold', 'raw_affiliation_strings': ['Clinic for Medical Genetics, Dresden, Germany'], 'affiliations': [{'raw_affiliation_string': 'Clinic for Medical Genetics, Dresden, Germany', 'institution_ids': ['https://openalex.org/I4210116470']}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5041254013', 'display_name': 'Anita Rauch', 'orcid': 'https://orcid.org/0000-0003-2930-3163'}, 'institutions': [{'id': 'https://openalex.org/I181369854', 'display_name': 'Friedrich-Alexander-Universität Erlangen-Nürnberg', 'ror': 'https://ror.org/00f7hpc57', 'country_code': 'DE', 'type': 'education', 'lineage': ['https://openalex.org/I181369854']}], 'countries': ['DE'], 'is_corresponding': False, 'raw_author_name': 'Anita Rauch', 'raw_affiliation_strings': ['Institute of Human Genetics, University Erlangen-Nuremberg, Erlangen, Germany.'], 'affiliations': [{'raw_affiliation_string': 'Institute of Human Genetics, University Erlangen-Nuremberg, Erlangen, Germany.', 'institution_ids': ['https://openalex.org/I181369854']}]}], 'institution_assertions': [], 'countries_distinct_count': 1, 'institutions_distinct_count': 2, 'corresponding_author_ids': [], 'corresponding_institution_ids': [], 'apc_list': None, 'apc_paid': None, 'fwci': 2.115, 'has_fulltext': True, 'fulltext_origin': 'ngrams', 'cited_by_count': 50, 'citation_normalized_percentile': {'value': 0.777506, 'is_in_top_1_percent': False, 'is_in_top_10_percent': False}, 'cited_by_percentile_year': {'min': 93, 'max': 94}, 'biblio': {'volume': '140A', 'issue': '24', 'first_page': '2749', 'last_page': '2756'}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T12104', 'display_name': 'Protein Tyrosine Phosphatases in Human Health and Disease', '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 in Human Health and Disease', '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/T11173', 'display_name': 'Neurofibromatosis Type 1 and Type 2', 'score': 0.9925, 'subfield': {'id': 'https://openalex.org/subfields/2728', 'display_name': 'Neurology'}, '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/T12387', 'display_name': 'Role of Galectins in Immunity and Disease', 'score': 0.9712, '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'}}], 'keywords': [{'id': 'https://openalex.org/keywords/ptpn11', 'display_name': 'PTPN11', 'score': 0.94149196}, {'id': 'https://openalex.org/keywords/neurofibromin-1', 'display_name': 'Neurofibromin 1', 'score': 0.8024414}, {'id': 'https://openalex.org/keywords/haploinsufficiency', 'display_name': 'Haploinsufficiency', 'score': 0.76056767}, {'id': 'https://openalex.org/keywords/neurofibromatosis', 'display_name': 'Neurofibromatosis', 'score': 0.568109}, {'id': 'https://openalex.org/keywords/noonan-syndrome', 'display_name': 'Noonan Syndrome', 'score': 0.555029}, {'id': 'https://openalex.org/keywords/neurofibromatosis-type-i', 'display_name': 'Neurofibromatosis type I', 'score': 0.5017967}], 'concepts': [{'id': 'https://openalex.org/C31734879', 'wikidata': 'https://www.wikidata.org/wiki/Q14905494', 'display_name': 'PTPN11', 'level': 5, 'score': 0.94149196}, {'id': 'https://openalex.org/C2776149932', 'wikidata': 'https://www.wikidata.org/wiki/Q1543446', 'display_name': 'Noonan syndrome', 'level': 2, 'score': 0.937951}, {'id': 'https://openalex.org/C2778984943', 'wikidata': 'https://www.wikidata.org/wiki/Q847605', 'display_name': 'Neurofibromatosis', 'level': 2, 'score': 0.8644732}, {'id': 'https://openalex.org/C170932241', 'wikidata': 'https://www.wikidata.org/wiki/Q411610', 'display_name': 'Neurofibromin 1', 'level': 3, 'score': 0.8024414}, {'id': 'https://openalex.org/C68838962', 'wikidata': 'https://www.wikidata.org/wiki/Q852654', 'display_name': 'Haploinsufficiency', 'level': 4, 'score': 0.76056767}, {'id': 'https://openalex.org/C54355233', 'wikidata': 'https://www.wikidata.org/wiki/Q7162', 'display_name': 'Genetics', 'level': 1, 'score': 0.6879638}, {'id': 'https://openalex.org/C127716648', 'wikidata': 'https://www.wikidata.org/wiki/Q104053', 'display_name': 'Phenotype', 'level': 3, 'score': 0.606343}, {'id': 'https://openalex.org/C501734568', 'wikidata': 'https://www.wikidata.org/wiki/Q42918', 'display_name': 'Mutation', 'level': 3, 'score': 0.5288214}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.50968957}, {'id': 'https://openalex.org/C29906990', 'wikidata': 'https://www.wikidata.org/wiki/Q1440688', 'display_name': 'Frameshift mutation', 'level': 4, 'score': 0.50739545}, {'id': 'https://openalex.org/C2778102573', 'wikidata': 'https://www.wikidata.org/wiki/Q7616509', 'display_name': 'Neurofibromatosis type I', 'level': 3, 'score': 0.5017967}, {'id': 'https://openalex.org/C180754005', 'wikidata': 'https://www.wikidata.org/wiki/Q80726', 'display_name': 'Allele', 'level': 3, 'score': 0.46268144}, {'id': 'https://openalex.org/C104317684', 'wikidata': 'https://www.wikidata.org/wiki/Q7187', 'display_name': 'Gene', 'level': 2, 'score': 0.37818322}, {'id': 'https://openalex.org/C2781187634', 'wikidata': 'https://www.wikidata.org/wiki/Q20969980', 'display_name': 'KRAS', 'level': 4, 'score': 0.0}], 'mesh': [{'descriptor_ui': 'D016514', 'descriptor_name': 'Genes, Neurofibromatosis 1', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D009154', 'descriptor_name': 'Mutation', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D009456', 'descriptor_name': 'Neurofibromatosis 1', 'qualifier_ui': 'Q000150', 'qualifier_name': 'complications', 'is_major_topic': True}, {'descriptor_ui': 'D009456', 'descriptor_name': 'Neurofibromatosis 1', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D009634', 'descriptor_name': 'Noonan Syndrome', 'qualifier_ui': 'Q000150', 'qualifier_name': 'complications', 'is_major_topic': True}, {'descriptor_ui': 'D009634', 'descriptor_name': 'Noonan Syndrome', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D000328', 'descriptor_name': 'Adult', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D001483', 'descriptor_name': 'Base Sequence', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D002648', 'descriptor_name': 'Child', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D002675', 'descriptor_name': 'Child, Preschool', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D004247', 'descriptor_name': 'DNA', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D004247', 'descriptor_name': 'DNA', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D004252', 'descriptor_name': 'DNA Mutational Analysis', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D005260', 'descriptor_name': 'Female', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D006801', 'descriptor_name': 'Humans', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D007223', 'descriptor_name': 'Infant', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D007231', 'descriptor_name': 'Infant, Newborn', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D008297', 'descriptor_name': 'Male', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D009456', 'descriptor_name': 'Neurofibromatosis 1', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D009634', 'descriptor_name': 'Noonan Syndrome', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D010641', 'descriptor_name': 'Phenotype', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}], 'locations_count': 2, 'locations': [{'is_oa': False, 'landing_page_url': 'https://doi.org/10.1002/ajmg.a.31547', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S180901878', 'display_name': 'American Journal of Medical Genetics Part A', 'issn_l': '1552-4825', 'issn': ['1552-4825', '1552-4833'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320595', 'host_organization_name': 'Wiley', 'host_organization_lineage': ['https://openalex.org/P4310320595'], 'host_organization_lineage_names': ['Wiley'], 'type': 'journal'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}, {'is_oa': False, 'landing_page_url': 'https://pubmed.ncbi.nlm.nih.gov/17103458', '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': None, 'sustainable_development_goals': [{'score': 0.66, 'id': 'https://metadata.un.org/sdg/3', 'display_name': 'Good health and well-being'}], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 47, 'referenced_works': ['https://openalex.org/W1488372279', 'https://openalex.org/W1881020850', 'https://openalex.org/W1965654023', 'https://openalex.org/W1973573177', 'https://openalex.org/W1974408717', 'https://openalex.org/W1987186315', 'https://openalex.org/W1989981053', 'https://openalex.org/W1993458150', 'https://openalex.org/W1996274092', 'https://openalex.org/W1997129158', 'https://openalex.org/W2002368280', 'https://openalex.org/W2010926229', 'https://openalex.org/W2012645327', 'https://openalex.org/W2023663427', 'https://openalex.org/W2023823280', 'https://openalex.org/W2033486597', 'https://openalex.org/W2045339882', 'https://openalex.org/W2058904389', 'https://openalex.org/W2063769684', 'https://openalex.org/W2065005641', 'https://openalex.org/W2065772477', 'https://openalex.org/W2071208412', 'https://openalex.org/W2072163115', 'https://openalex.org/W2072944463', 'https://openalex.org/W2079171296', 'https://openalex.org/W2084440639', 'https://openalex.org/W2108447730', 'https://openalex.org/W2109487895', 'https://openalex.org/W2111090400', 'https://openalex.org/W2128014524', 'https://openalex.org/W2133770788', 'https://openalex.org/W2139433387', 'https://openalex.org/W2144535561', 'https://openalex.org/W2147878409', 'https://openalex.org/W2148429528', 'https://openalex.org/W2149724253', 'https://openalex.org/W2157083579', 'https://openalex.org/W2166692731', 'https://openalex.org/W2168252439', 'https://openalex.org/W2169208337', 'https://openalex.org/W2227926799', 'https://openalex.org/W3036997304', 'https://openalex.org/W4212980172', 'https://openalex.org/W4230624474', 'https://openalex.org/W4239129777', 'https://openalex.org/W4299926503', 'https://openalex.org/W873453820'], 'related_works': ['https://openalex.org/W4313043664', 'https://openalex.org/W3115145551', 'https://openalex.org/W2972954138', 'https://openalex.org/W2339295258', 'https://openalex.org/W2109552346', 'https://openalex.org/W2102695235', 'https://openalex.org/W2091545134', 'https://openalex.org/W2011083078', 'https://openalex.org/W2000813775', 'https://openalex.org/W1974990209'], 'abstract_inverted_index': {'Abstract': [0], 'Signs': [1], 'of': [2, 34, 44, 74, 91, 116, 148, 154, 159, 163, 171, 176, 194], 'neurofibromatosis': [3], 'type': [4], '1': [5], '(NF1)': [6], 'and': [7, 36, 51, 65, 108, 196], 'Noonan': [8], 'syndrome': [9, 23, 26], '(NS),': [10], 'two': [11], 'distinct': [12], 'autosomal': [13], 'dominant': [14], 'disorders,': [15], 'occur': [16], 'together': [17], 'in': [18, 71, 101, 120, 136, 156], 'patients': [19, 83], 'reported': [20], 'as': [21, 180], 'Watson': [22], '(WS),': [24], 'neurofibromatosis‐Noonan': [25], '(NFNS),': [27], 'partial': [28], 'LEOPARD': [29], 'syndrome,': [30], 'NS': [31, 195], 'with': [32, 38, 88, 133], 'features': [33], 'NF1,': [35], 'NF1': [37, 70, 105, 107, 117, 130, 155], 'Noonan‐like': [39], 'features.': [40], 'The': [41, 129], 'molecular': [42], 'basis': [43], 'these': [45], 'combined': [46], 'phenotypes': [47, 90, 147], 'was': [48, 127], 'poorly': [49], 'understood': [50], 'controversially': [52], 'discussed': [53], 'over': [54], 'several': [55], 'decades.': [56], 'Only': [57], 'recently,': [58], 'there': [59], 'is': [60, 184], 'increasing': [61], 'evidence': [62], 'for': [63, 99, 106, 110], 'WS': [64], 'NFNS': [66], 'being': [67], 'allelic': [68], 'to': [69], 'the': [72, 92, 102, 134, 143, 149, 157, 164, 186, 191], 'majority': [73, 158], 'patients.': [75], 'In': [76], 'this': [77], 'study': [78], 'we': [79], 'describe': [80], 'seven': [81], 'novel': [82], 'from': [84], 'five': [85], 'unrelated': [86], 'families': [87], 'variable': [89, 146], 'NF1‐NS': [93, 150], 'spectrum': [94, 151], 'which': [95, 178], 'were': [96, 118], 'systematically': [97], 'analyzed': [98], 'mutations': [100, 113, 170], 'disease‐causing': [103], 'genes': [104], 'PTPN11': [109, 125, 172], 'NS.': [111], 'Heterozygous': [112], 'or': [114, 173], 'deletions': [115], 'identified': [119], 'all': [121], 'patients,': [122], 'while': [123], 'no': [124], 'mutation': [126, 131], 'found.': [128], 'segregated': [132], 'phenotype': [135], 'both': [137], 'familial': [138], 'cases.': [139, 160], 'These': [140], 'results': [141], 'support': [142], 'hypothesis': [144], 'that': [145], 'represent': [152], 'variants': [153], 'Constitutive': [161], 'deregulation': [162], 'Ras': [165], 'pathway': [166], 'either': [167], 'through': [168, 174], 'activating': [169], 'haploinsufficiency': [175], 'neurofibromin,': [177], 'acts': [179], 'a': [181], 'Ras‐inactivating': [182], 'GTP‐ase,': [183], 'probably': [185], 'common': [187], 'pathogenetic': [188], 'mechanism': [189], 'explaining': [190], 'phenotypic': [192], 'overlap': [193], 'NF1.': [197], '©': [198], '2006': [199], 'Wiley‐Liss,': [200], 'Inc.': [201]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W1974990209', 'counts_by_year': [{'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': 4}, {'year': 2018, 'cited_by_count': 2}, {'year': 2016, 'cited_by_count': 3}, {'year': 2013, 'cited_by_count': 1}, {'year': 2012, 'cited_by_count': 7}], 'updated_date': '2024-09-15T15:55:03.685984', 'created_date': '2016-06-24'}