Get quick answers to your questions about the article from our AI researcher chatbot
{'id': 'https://openalex.org/W2170784416', 'doi': 'https://doi.org/10.1002/(sici)1098-1004(1999)13:4<301::aid-humu7>3.0.co;2-v', 'title': 'Novel KCNQ1 and HERG missense mutations in Dutch long-QT families', 'display_name': 'Novel KCNQ1 and HERG missense mutations in Dutch long-QT families', 'publication_year': 1999, 'publication_date': '1999-01-01', 'ids': {'openalex': 'https://openalex.org/W2170784416', 'doi': 'https://doi.org/10.1002/(sici)1098-1004(1999)13:4<301::aid-humu7>3.0.co;2-v', 'mag': '2170784416', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/10220144'}, 'language': 'en', 'primary_location': {'is_oa': True, 'landing_page_url': 'https://doi.org/10.1002/(sici)1098-1004(1999)13:4<301::aid-humu7>3.0.co;2-v', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S98809561', 'display_name': 'Human Mutation', 'issn_l': '1059-7794', 'issn': ['1059-7794', '1098-1004'], 'is_oa': True, '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': 'publishedVersion', 'is_accepted': True, 'is_published': True}, 'type': 'article', 'type_crossref': 'journal-article', 'indexed_in': ['crossref', 'pubmed'], 'open_access': {'is_oa': True, 'oa_status': 'gold', 'oa_url': 'https://doi.org/10.1002/(sici)1098-1004(1999)13:4<301::aid-humu7>3.0.co;2-v', 'any_repository_has_fulltext': False}, 'authorships': [{'author_position': 'first', 'author': {'id': 'https://openalex.org/A5110273582', 'display_name': 'R. J. E. Jongbloed', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I34352273', 'display_name': 'Maastricht University', 'ror': 'https://ror.org/02jz4aj89', 'country_code': 'NL', 'type': 'education', 'lineage': ['https://openalex.org/I34352273']}], 'countries': ['NL'], 'is_corresponding': True, 'raw_author_name': 'R.J.E. Jongbloed', 'raw_affiliation_strings': ['Cardiovascular Research Institute Maastricht (CARIM), University of Maastricht, The Netherlands', 'Department of Molecular Cell Biology and Genetics, University of Maastricht, The Netherlands'], 'affiliations': [{'raw_affiliation_string': 'Department of Molecular Cell Biology and Genetics, University of Maastricht, The Netherlands', 'institution_ids': ['https://openalex.org/I34352273']}, {'raw_affiliation_string': 'Cardiovascular Research Institute Maastricht (CARIM), University of Maastricht, The Netherlands', 'institution_ids': ['https://openalex.org/I34352273']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5002151074', 'display_name': 'Arthur A.M. Wilde', 'orcid': 'https://orcid.org/0000-0002-0528-0852'}, 'institutions': [{'id': 'https://openalex.org/I2802928900', 'display_name': 'Academic Medical Center', 'ror': 'https://ror.org/03t4gr691', 'country_code': 'NL', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2802928900', 'https://openalex.org/I4210151833']}], 'countries': ['NL'], 'is_corresponding': False, 'raw_author_name': 'A.A.M. Wilde', 'raw_affiliation_strings': ['Department of Clinical and Experimental Cardiology, Academic Medical Center, Amsterdam, The Netherlands', 'Heart Lung Institute, University of Utrecht, Utrecht, The Netherlands'], 'affiliations': [{'raw_affiliation_string': 'Department of Clinical and Experimental Cardiology, Academic Medical Center, Amsterdam, The Netherlands', 'institution_ids': ['https://openalex.org/I2802928900']}, {'raw_affiliation_string': 'Heart Lung Institute, University of Utrecht, Utrecht, The Netherlands', 'institution_ids': []}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5079539467', 'display_name': 'J. L. M. C. Geelen', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I34352273', 'display_name': 'Maastricht University', 'ror': 'https://ror.org/02jz4aj89', 'country_code': 'NL', 'type': 'education', 'lineage': ['https://openalex.org/I34352273']}], 'countries': ['NL'], 'is_corresponding': False, 'raw_author_name': 'J.L.M.C. Geelen', 'raw_affiliation_strings': ['Department of Molecular Cell Biology and Genetics, University of Maastricht, The Netherlands'], 'affiliations': [{'raw_affiliation_string': 'Department of Molecular Cell Biology and Genetics, University of Maastricht, The Netherlands', 'institution_ids': ['https://openalex.org/I34352273']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5081338491', 'display_name': 'Pieter A. Doevendans', 'orcid': 'https://orcid.org/0000-0002-6257-7169'}, 'institutions': [{'id': 'https://openalex.org/I34352273', 'display_name': 'Maastricht University', 'ror': 'https://ror.org/02jz4aj89', 'country_code': 'NL', 'type': 'education', 'lineage': ['https://openalex.org/I34352273']}], 'countries': ['NL'], 'is_corresponding': False, 'raw_author_name': 'P. Doevendans', 'raw_affiliation_strings': ['Cardiovascular Research Institute Maastricht (CARIM), University of Maastricht, The Netherlands'], 'affiliations': [{'raw_affiliation_string': 'Cardiovascular Research Institute Maastricht (CARIM), University of Maastricht, The Netherlands', 'institution_ids': ['https://openalex.org/I34352273']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5000782466', 'display_name': 'C Schaap', 'orcid': 'https://orcid.org/0000-0001-6445-1079'}, 'institutions': [{'id': 'https://openalex.org/I34352273', 'display_name': 'Maastricht University', 'ror': 'https://ror.org/02jz4aj89', 'country_code': 'NL', 'type': 'education', 'lineage': ['https://openalex.org/I34352273']}], 'countries': ['NL'], 'is_corresponding': False, 'raw_author_name': 'C. Schaap', 'raw_affiliation_strings': ['Department of Molecular Cell Biology and Genetics, University of Maastricht, The Netherlands'], 'affiliations': [{'raw_affiliation_string': 'Department of Molecular Cell Biology and Genetics, University of Maastricht, The Netherlands', 'institution_ids': ['https://openalex.org/I34352273']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5016961737', 'display_name': 'Irene M. van Langen', 'orcid': 'https://orcid.org/0000-0002-0960-7154'}, 'institutions': [{'id': 'https://openalex.org/I2802928900', 'display_name': 'Academic Medical Center', 'ror': 'https://ror.org/03t4gr691', 'country_code': 'NL', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2802928900', 'https://openalex.org/I4210151833']}], 'countries': ['NL'], 'is_corresponding': False, 'raw_author_name': 'I. Van Langen', 'raw_affiliation_strings': ['Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands'], 'affiliations': [{'raw_affiliation_string': 'Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands', 'institution_ids': ['https://openalex.org/I2802928900']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5087108967', 'display_name': 'J. Peter van Tintelen', 'orcid': 'https://orcid.org/0000-0003-3854-6749'}, 'institutions': [{'id': 'https://openalex.org/I193662353', 'display_name': 'Utrecht University', 'ror': 'https://ror.org/04pp8hn57', 'country_code': 'NL', 'type': 'education', 'lineage': ['https://openalex.org/I193662353']}], 'countries': ['NL'], 'is_corresponding': False, 'raw_author_name': 'J.P. van Tintelen', 'raw_affiliation_strings': ['Clinical Genetic Center, University of Utrecht, Utrecht, The Netherlands'], 'affiliations': [{'raw_affiliation_string': 'Clinical Genetic Center, University of Utrecht, Utrecht, The Netherlands', 'institution_ids': ['https://openalex.org/I193662353']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5108497448', 'display_name': 'J. M. Cobben', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I169381384', 'display_name': 'University of Groningen', 'ror': 'https://ror.org/012p63287', 'country_code': 'NL', 'type': 'education', 'lineage': ['https://openalex.org/I169381384']}], 'countries': ['NL'], 'is_corresponding': False, 'raw_author_name': 'J.M. Cobben', 'raw_affiliation_strings': ['Department of Medical Genetics, University of Groningen, Groningen, The Netherlands'], 'affiliations': [{'raw_affiliation_string': 'Department of Medical Genetics, University of Groningen, Groningen, The Netherlands', 'institution_ids': ['https://openalex.org/I169381384']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5108520510', 'display_name': 'G.C.M. Beaufort-Krol', 'orcid': None}, 'institutions': [], 'countries': ['NL'], 'is_corresponding': False, 'raw_author_name': 'G.C.M. Beaufort-Krol', 'raw_affiliation_strings': ['Department of Pediatric Cardiology, University Hospital Groningen, Groningen, The Netherlands'], 'affiliations': [{'raw_affiliation_string': 'Department of Pediatric Cardiology, University Hospital Groningen, Groningen, The Netherlands', 'institution_ids': []}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5054409804', 'display_name': 'Joep Geraedts', 'orcid': 'https://orcid.org/0000-0002-0496-0039'}, 'institutions': [{'id': 'https://openalex.org/I34352273', 'display_name': 'Maastricht University', 'ror': 'https://ror.org/02jz4aj89', 'country_code': 'NL', 'type': 'education', 'lineage': ['https://openalex.org/I34352273']}], 'countries': ['NL'], 'is_corresponding': False, 'raw_author_name': 'J.P.M. Geraedts', 'raw_affiliation_strings': ['Department of Molecular Cell Biology and Genetics, University of Maastricht, The Netherlands'], 'affiliations': [{'raw_affiliation_string': 'Department of Molecular Cell Biology and Genetics, University of Maastricht, The Netherlands', 'institution_ids': ['https://openalex.org/I34352273']}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5029709992', 'display_name': 'Hubert J.M. Smeets', 'orcid': 'https://orcid.org/0000-0003-3859-8522'}, 'institutions': [{'id': 'https://openalex.org/I34352273', 'display_name': 'Maastricht University', 'ror': 'https://ror.org/02jz4aj89', 'country_code': 'NL', 'type': 'education', 'lineage': ['https://openalex.org/I34352273']}], 'countries': ['NL'], 'is_corresponding': False, 'raw_author_name': 'H.J.M. Smeets', 'raw_affiliation_strings': ['Department of Molecular Cell Biology and Genetics, University of Maastricht, The Netherlands'], 'affiliations': [{'raw_affiliation_string': 'Department of Molecular Cell Biology and Genetics, University of Maastricht, The Netherlands', 'institution_ids': ['https://openalex.org/I34352273']}]}], 'institution_assertions': [], 'countries_distinct_count': 1, 'institutions_distinct_count': 4, 'corresponding_author_ids': ['https://openalex.org/A5110273582'], 'corresponding_institution_ids': ['https://openalex.org/I34352273'], 'apc_list': {'value': 2300, 'currency': 'USD', 'value_usd': 2300, 'provenance': 'doaj'}, 'apc_paid': {'value': 2300, 'currency': 'USD', 'value_usd': 2300, 'provenance': 'doaj'}, 'fwci': 3.481, 'has_fulltext': True, 'fulltext_origin': 'ngrams', 'cited_by_count': 62, 'citation_normalized_percentile': {'value': 0.916199, 'is_in_top_1_percent': False, 'is_in_top_10_percent': True}, 'cited_by_percentile_year': {'min': 93, 'max': 94}, 'biblio': {'volume': '13', 'issue': '4', 'first_page': '301', 'last_page': '310'}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T10217', 'display_name': 'Cardiac electrophysiology and arrhythmias', 'score': 0.9999, 'subfield': {'id': 'https://openalex.org/subfields/2705', 'display_name': 'Cardiology and Cardiovascular Medicine'}, 'field': {'id': 'https://openalex.org/fields/27', 'display_name': 'Medicine'}, 'domain': {'id': 'https://openalex.org/domains/4', 'display_name': 'Health Sciences'}}, 'topics': [{'id': 'https://openalex.org/T10217', 'display_name': 'Cardiac electrophysiology and arrhythmias', 'score': 0.9999, 'subfield': {'id': 'https://openalex.org/subfields/2705', 'display_name': 'Cardiology and Cardiovascular Medicine'}, '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/T10493', 'display_name': 'Ion channel regulation and function', 'score': 0.999, '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/T10521', 'display_name': 'RNA and protein synthesis mechanisms', 'score': 0.938, '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'}}], 'keywords': [{'id': 'https://openalex.org/keywords/herg', 'display_name': 'hERG', 'score': 0.97445863}, {'id': 'https://openalex.org/keywords/sudden-death', 'display_name': 'Sudden Death', 'score': 0.6081735}], 'concepts': [{'id': 'https://openalex.org/C2779362680', 'wikidata': 'https://www.wikidata.org/wiki/Q905000', 'display_name': 'hERG', 'level': 3, 'score': 0.97445863}, {'id': 'https://openalex.org/C75563809', 'wikidata': 'https://www.wikidata.org/wiki/Q2656896', 'display_name': 'Missense mutation', 'level': 4, 'score': 0.9395386}, {'id': 'https://openalex.org/C2779703243', 'wikidata': 'https://www.wikidata.org/wiki/Q653924', 'display_name': 'Long QT syndrome', 'level': 3, 'score': 0.857666}, {'id': 'https://openalex.org/C54355233', 'wikidata': 'https://www.wikidata.org/wiki/Q7162', 'display_name': 'Genetics', 'level': 1, 'score': 0.6600438}, {'id': 'https://openalex.org/C2993353509', 'wikidata': 'https://www.wikidata.org/wiki/Q411867', 'display_name': 'Sudden death', 'level': 2, 'score': 0.6081735}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.5937763}, {'id': 'https://openalex.org/C118441451', 'wikidata': 'https://www.wikidata.org/wiki/Q12074763', 'display_name': 'QT interval', 'level': 2, 'score': 0.58768404}, {'id': 'https://openalex.org/C501734568', 'wikidata': 'https://www.wikidata.org/wiki/Q42918', 'display_name': 'Mutation', 'level': 3, 'score': 0.5680983}, {'id': 'https://openalex.org/C2777910003', 'wikidata': 'https://www.wikidata.org/wiki/Q1707292', 'display_name': 'Asymptomatic', 'level': 2, 'score': 0.52420366}, {'id': 'https://openalex.org/C2775935837', 'wikidata': 'https://www.wikidata.org/wiki/Q202837', 'display_name': 'Sudden cardiac death', 'level': 2, 'score': 0.4488285}, {'id': 'https://openalex.org/C104317684', 'wikidata': 'https://www.wikidata.org/wiki/Q7187', 'display_name': 'Gene', 'level': 2, 'score': 0.3482738}, {'id': 'https://openalex.org/C126322002', 'wikidata': 'https://www.wikidata.org/wiki/Q11180', 'display_name': 'Internal medicine', 'level': 1, 'score': 0.30597836}, {'id': 'https://openalex.org/C83743174', 'wikidata': 'https://www.wikidata.org/wiki/Q423778', 'display_name': 'Potassium channel', 'level': 2, 'score': 0.24561936}, {'id': 'https://openalex.org/C71924100', 'wikidata': 'https://www.wikidata.org/wiki/Q11190', 'display_name': 'Medicine', 'level': 0, 'score': 0.21208695}, {'id': 'https://openalex.org/C134018914', 'wikidata': 'https://www.wikidata.org/wiki/Q162606', 'display_name': 'Endocrinology', 'level': 1, 'score': 0.16512573}], 'mesh': [{'descriptor_ui': 'D027682', 'descriptor_name': 'Cation Transport Proteins', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D004268', 'descriptor_name': 'DNA-Binding Proteins', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D008133', 'descriptor_name': 'Long QT Syndrome', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D020125', 'descriptor_name': 'Mutation, Missense', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D015221', 'descriptor_name': 'Potassium Channels', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D024642', 'descriptor_name': 'Potassium Channels, Voltage-Gated', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D015534', 'descriptor_name': 'Trans-Activators', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D004252', 'descriptor_name': 'DNA Mutational Analysis', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D000072237', 'descriptor_name': 'ERG1 Potassium Channel', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D051638', 'descriptor_name': 'Ether-A-Go-Go Potassium Channels', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D008040', 'descriptor_name': 'Genetic Linkage', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D006239', 'descriptor_name': 'Haplotypes', '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': 'D051656', 'descriptor_name': 'KCNQ Potassium Channels', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D051657', 'descriptor_name': 'KCNQ1 Potassium Channel', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D008133', 'descriptor_name': 'Long QT Syndrome', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D018895', 'descriptor_name': 'Microsatellite Repeats', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D009426', 'descriptor_name': 'Netherlands', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D010375', 'descriptor_name': 'Pedigree', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D011110', 'descriptor_name': 'Polymorphism, Genetic', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D015221', 'descriptor_name': 'Potassium Channels', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D017386', 'descriptor_name': 'Sequence Homology, Amino Acid', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D000071230', 'descriptor_name': 'Transcriptional Regulator ERG', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}], 'locations_count': 2, 'locations': [{'is_oa': True, 'landing_page_url': 'https://doi.org/10.1002/(sici)1098-1004(1999)13:4<301::aid-humu7>3.0.co;2-v', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S98809561', 'display_name': 'Human Mutation', 'issn_l': '1059-7794', 'issn': ['1059-7794', '1098-1004'], 'is_oa': True, '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': 'publishedVersion', 'is_accepted': True, 'is_published': True}, {'is_oa': False, 'landing_page_url': 'https://pubmed.ncbi.nlm.nih.gov/10220144', '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': 'https://doi.org/10.1002/(sici)1098-1004(1999)13:4<301::aid-humu7>3.0.co;2-v', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S98809561', 'display_name': 'Human Mutation', 'issn_l': '1059-7794', 'issn': ['1059-7794', '1098-1004'], 'is_oa': True, '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': 'publishedVersion', 'is_accepted': True, 'is_published': True}, 'sustainable_development_goals': [{'score': 0.47, 'display_name': 'Good health and well-being', 'id': 'https://metadata.un.org/sdg/3'}], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 42, 'referenced_works': ['https://openalex.org/W1521731378', 'https://openalex.org/W1967880298', 'https://openalex.org/W1968095129', 'https://openalex.org/W1975060837', 'https://openalex.org/W1976464425', 'https://openalex.org/W1981468825', 'https://openalex.org/W1986157799', 'https://openalex.org/W1988107445', 'https://openalex.org/W1991662012', 'https://openalex.org/W2005240974', 'https://openalex.org/W2018409817', 'https://openalex.org/W2021438486', 'https://openalex.org/W2022414157', 'https://openalex.org/W2036194714', 'https://openalex.org/W2036335848', 'https://openalex.org/W2037472725', 'https://openalex.org/W2038427514', 'https://openalex.org/W2041596890', 'https://openalex.org/W2046508780', 'https://openalex.org/W2049210460', 'https://openalex.org/W2053351731', 'https://openalex.org/W2065288202', 'https://openalex.org/W2068713060', 'https://openalex.org/W2074705578', 'https://openalex.org/W2079285233', 'https://openalex.org/W2079459139', 'https://openalex.org/W2080243979', 'https://openalex.org/W2086848699', 'https://openalex.org/W2088143209', 'https://openalex.org/W2091298387', 'https://openalex.org/W2092288620', 'https://openalex.org/W2092520275', 'https://openalex.org/W2093214695', 'https://openalex.org/W2097022235', 'https://openalex.org/W2117216522', 'https://openalex.org/W2125779119', 'https://openalex.org/W2129910735', 'https://openalex.org/W2147957488', 'https://openalex.org/W2330959938', 'https://openalex.org/W2988734029', 'https://openalex.org/W4237792091', 'https://openalex.org/W645285876'], 'related_works': ['https://openalex.org/W3215962282', 'https://openalex.org/W2625585441', 'https://openalex.org/W2369460048', 'https://openalex.org/W2169618136', 'https://openalex.org/W2129393568', 'https://openalex.org/W2040319666', 'https://openalex.org/W2029811900', 'https://openalex.org/W2028521745', 'https://openalex.org/W1997071795', 'https://openalex.org/W1969847472'], 'abstract_inverted_index': {'Congenital': [0], 'long': [1], 'QT': [2, 11], 'syndrome': [3], '(cLQTS)': [4], 'is': [5], 'electrocardiographically': [6], 'characterized': [7], 'by': [8], 'a': [9, 210], 'prolonged': [10], 'interval': [12], 'and': [13, 49, 88, 101, 118, 130, 132, 143, 149, 181, 199], 'polymorphic': [14], 'ventricular': [15], 'arrhythmias': [16, 22], '(torsade': [17], 'de': [18], 'pointes).': [19], 'These': [20], 'cardiac': [21, 67, 195], 'may': [23], 'result': [24], 'in': [25, 53, 83, 99, 116, 120, 125, 136, 156, 168, 171, 183], 'recurrent': [26], 'syncopes,': [27], 'seizure,': [28], 'or': [29, 42], 'sudden': [30], 'death.': [31], 'LQTS': [32, 78, 95], 'can': [33], 'occur': [34], 'either': [35], 'as': [36, 43, 192], 'an': [37, 44], 'autosomal': [38, 45], 'dominant': [39], '(Romano': [40], 'Ward)': [41], 'recessive': [46], 'disorder': [47], '(Jervell': [48], 'Lange-Nielsen': [50], 'syndrome).': [51], 'Mutations': [52], 'at': [54, 223], 'least': [55], 'five': [56, 119], 'genes': [57, 86], 'have': [58, 70, 91], 'been': [59, 71], 'associated': [60], 'with': [61, 242], 'the': [62, 84, 150, 162, 174, 177, 184, 205, 226, 232], 'LQTS.': [63, 243], 'Four': [64], 'genes,': [65], 'encoding': [66], 'ion': [68], 'channels,': [69], 'identified.': [72, 107, 218], 'The': [73, 145, 159], 'most': [74], 'common': [75], 'forms': [76], 'of': [77, 109, 161, 176, 194, 212, 225, 228, 234, 240], 'are': [79, 221], 'due': [80], 'to': [81], 'mutations': [82, 98, 105, 112, 124, 135, 163], 'potassium-channel': [85], 'KCNQ1': [87, 100, 117, 126, 146], 'HERG.': [89, 102, 121], 'We': [90], 'screened': [92], '24': [93], 'Dutch': [94], 'families': [96], 'for': [97, 237], 'Fourteen': [103], 'missense': [104, 111, 123, 134], 'were': [106, 113, 127, 138, 154, 217], 'Eight': [108], 'these': [110], 'novel:': [114], 'three': [115], 'Novel': [122], 'Y184S,': [128], 'S373P,': [129], 'W392R': [131], 'novel': [133], 'HERG': [137, 151], 'A558P,': [139], 'R582C,': [140], 'G604S,': [141], 'T613M,': [142], 'F640L.': [144], 'mutation': [147, 152], 'G189R': [148], 'R582C': [153], 'detected': [155], 'two': [157], 'families.': [158], 'pathogenicity': [160], 'was': [164, 204], 'based': [165], 'on': [166], 'segregation': [167], 'families,': [169], 'absence': [170], 'control': [172], 'individuals,': [173], 'nature': [175], 'amino': [178], 'acid': [179], 'substitution,': [180], 'localization': [182], 'protein.': [185], 'Genotype-phenotype': [186], 'studies': [187], 'indicated': [188], 'that': [189], 'auditory': [190], 'stimuli': [191], 'trigger': [193], 'events': [196], 'differentiate': [197], 'LQTS2': [198], 'LQTS1.': [200], 'In': [201, 208], 'LQTS1,': [202], 'exercise': [203], 'predominant': [206], 'trigger.': [207], 'addition,': [209], 'number': [211], 'asymptomatic': [213], 'gene': [214], 'defect': [215], 'carriers': [216, 220], 'Asymptomatic': [219], 'still': [222], 'risk': [224], 'development': [227], 'life-threatening': [229], 'arrhythmias,': [230], 'underlining': [231], 'importance': [233], 'DNA': [235], 'analyses': [236], 'unequivocal': [238], 'diagnosis': [239], 'patients': [241], 'Hum': [244], 'Mutat': [245], '13:301–310,': [246], '1999.': [247], '©': [248], '1999': [249], 'Wiley-Liss,': [250], 'Inc.': [251]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W2170784416', 'counts_by_year': [{'year': 2024, 'cited_by_count': 1}, {'year': 2023, 'cited_by_count': 1}, {'year': 2022, 'cited_by_count': 2}, {'year': 2020, 'cited_by_count': 3}, {'year': 2018, 'cited_by_count': 2}, {'year': 2017, 'cited_by_count': 4}, {'year': 2016, 'cited_by_count': 4}, {'year': 2015, 'cited_by_count': 1}, {'year': 2014, 'cited_by_count': 1}, {'year': 2013, 'cited_by_count': 1}, {'year': 2012, 'cited_by_count': 1}], 'updated_date': '2024-12-17T11:05:26.853615', 'created_date': '2016-06-24'}