Get quick answers to your questions about the article from our AI researcher chatbot
{'id': 'https://openalex.org/W4246639364', 'doi': 'https://doi.org/10.1136/jmg.34.8.656', 'title': 'Waardenburg syndrome.', 'display_name': 'Waardenburg syndrome.', 'publication_year': 1997, 'publication_date': '1997-08-01', 'ids': {'openalex': 'https://openalex.org/W4246639364', 'doi': 'https://doi.org/10.1136/jmg.34.8.656', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/9279758'}, 'language': 'en', 'primary_location': {'is_oa': True, 'landing_page_url': 'https://doi.org/10.1136/jmg.34.8.656', 'pdf_url': 'https://jmg.bmj.com/content/jmedgenet/34/8/656.full.pdf', 'source': {'id': 'https://openalex.org/S112540174', 'display_name': 'Journal of Medical Genetics', 'issn_l': '0022-2593', 'issn': ['0022-2593', '1468-6244'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310319945', 'host_organization_name': 'BMJ', 'host_organization_lineage': ['https://openalex.org/P4310319945'], 'host_organization_lineage_names': ['BMJ'], 'type': 'journal'}, 'license': None, 'license_id': None, 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, 'type': 'review', 'type_crossref': 'journal-article', 'indexed_in': ['crossref', 'pubmed'], 'open_access': {'is_oa': True, 'oa_status': 'bronze', 'oa_url': 'https://jmg.bmj.com/content/jmedgenet/34/8/656.full.pdf', 'any_repository_has_fulltext': True}, 'authorships': [{'author_position': 'first', 'author': {'id': 'https://openalex.org/A5076954312', 'display_name': 'Andrew Read', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I4210087748', 'display_name': "St Mary's Hospital", 'ror': 'https://ror.org/001x4vz59', 'country_code': 'GB', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2800602287', 'https://openalex.org/I4210087748', 'https://openalex.org/I4210092852']}], 'countries': ['GB'], 'is_corresponding': False, 'raw_author_name': 'A P Read', 'raw_affiliation_strings': ["Department of Medical Genetics, St Mary's Hospital, Manchester, UK."], 'affiliations': [{'raw_affiliation_string': "Department of Medical Genetics, St Mary's Hospital, Manchester, UK.", 'institution_ids': ['https://openalex.org/I4210087748']}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5018752517', 'display_name': 'Valerie Newton', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I4210087748', 'display_name': "St Mary's Hospital", 'ror': 'https://ror.org/001x4vz59', 'country_code': 'GB', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2800602287', 'https://openalex.org/I4210087748', 'https://openalex.org/I4210092852']}], 'countries': ['GB'], 'is_corresponding': False, 'raw_author_name': 'V E Newton', 'raw_affiliation_strings': ["Department of Medical Genetics, St Mary's Hospital, Manchester, UK."], 'affiliations': [{'raw_affiliation_string': "Department of Medical Genetics, St Mary's Hospital, Manchester, UK.", 'institution_ids': ['https://openalex.org/I4210087748']}]}], 'institution_assertions': [], 'countries_distinct_count': 1, 'institutions_distinct_count': 1, 'corresponding_author_ids': [], 'corresponding_institution_ids': [], 'apc_list': None, 'apc_paid': None, 'fwci': 6.624, 'has_fulltext': True, 'fulltext_origin': 'pdf', 'cited_by_count': 431, 'citation_normalized_percentile': {'value': 0.964411, 'is_in_top_1_percent': False, 'is_in_top_10_percent': True}, 'cited_by_percentile_year': {'min': 99, 'max': 100}, 'biblio': {'volume': '34', 'issue': '8', 'first_page': '656', 'last_page': '665'}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T12237', 'display_name': 'Hirschsprung Disease and Enteric Nervous System Development', 'score': 0.9965, 'subfield': {'id': 'https://openalex.org/subfields/2746', 'display_name': 'Surgery'}, '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/T12237', 'display_name': 'Hirschsprung Disease and Enteric Nervous System Development', 'score': 0.9965, 'subfield': {'id': 'https://openalex.org/subfields/2746', 'display_name': 'Surgery'}, '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/T11144', 'display_name': 'Melanin Pigmentation in Mammalian Skin', 'score': 0.9718, 'subfield': {'id': 'https://openalex.org/subfields/1307', 'display_name': 'Cell 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/T13199', 'display_name': 'Genetic Adaptation of Lactase Persistence in Humans', 'score': 0.9557, '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/waardenburg-syndrome', 'display_name': 'Waardenburg syndrome', 'score': 0.99306417}, {'id': 'https://openalex.org/keywords/pax3', 'display_name': 'PAX3', 'score': 0.92655516}, {'id': 'https://openalex.org/keywords/microphthalmia-associated-transcription-factor', 'display_name': 'Microphthalmia-associated transcription factor', 'score': 0.88739336}, {'id': 'https://openalex.org/keywords/sox10', 'display_name': 'SOX10', 'score': 0.81890357}, {'id': 'https://openalex.org/keywords/hirschsprung-disease', 'display_name': 'Hirschsprung Disease', 'score': 0.481343}], 'concepts': [{'id': 'https://openalex.org/C2777259899', 'wikidata': 'https://www.wikidata.org/wiki/Q1151801', 'display_name': 'Waardenburg syndrome', 'level': 4, 'score': 0.99306417}, {'id': 'https://openalex.org/C168609215', 'wikidata': 'https://www.wikidata.org/wiki/Q14916248', 'display_name': 'PAX3', 'level': 4, 'score': 0.92655516}, {'id': 'https://openalex.org/C177504595', 'wikidata': 'https://www.wikidata.org/wiki/Q336500', 'display_name': 'Microphthalmia-associated transcription factor', 'level': 4, 'score': 0.88739336}, {'id': 'https://openalex.org/C2777302934', 'wikidata': 'https://www.wikidata.org/wiki/Q18031655', 'display_name': 'SOX10', 'level': 4, 'score': 0.81890357}, {'id': 'https://openalex.org/C2778085061', 'wikidata': 'https://www.wikidata.org/wiki/Q1557239', 'display_name': 'Microphthalmia', 'level': 3, 'score': 0.76923597}, {'id': 'https://openalex.org/C54355233', 'wikidata': 'https://www.wikidata.org/wiki/Q7162', 'display_name': 'Genetics', 'level': 1, 'score': 0.6028229}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.55684936}, {'id': 'https://openalex.org/C2780493683', 'wikidata': 'https://www.wikidata.org/wiki/Q16035842', 'display_name': 'Hearing loss', 'level': 2, 'score': 0.49392325}, {'id': 'https://openalex.org/C126749454', 'wikidata': 'https://www.wikidata.org/wiki/Q1348455', 'display_name': 'Neural crest', 'level': 3, 'score': 0.39833307}, {'id': 'https://openalex.org/C104317684', 'wikidata': 'https://www.wikidata.org/wiki/Q7187', 'display_name': 'Gene', 'level': 2, 'score': 0.3828316}, {'id': 'https://openalex.org/C71924100', 'wikidata': 'https://www.wikidata.org/wiki/Q11190', 'display_name': 'Medicine', 'level': 0, 'score': 0.2789121}, {'id': 'https://openalex.org/C86339819', 'wikidata': 'https://www.wikidata.org/wiki/Q407384', 'display_name': 'Transcription factor', 'level': 3, 'score': 0.17985559}, {'id': 'https://openalex.org/C127716648', 'wikidata': 'https://www.wikidata.org/wiki/Q104053', 'display_name': 'Phenotype', 'level': 3, 'score': 0.15035781}, {'id': 'https://openalex.org/C548259974', 'wikidata': 'https://www.wikidata.org/wiki/Q569965', 'display_name': 'Audiology', 'level': 1, 'score': 0.114754766}], 'mesh': [{'descriptor_ui': 'D014849', 'descriptor_name': 'Waardenburg Syndrome', 'qualifier_ui': 'Q000473', 'qualifier_name': 'pathology', 'is_major_topic': True}, {'descriptor_ui': 'D019334', 'descriptor_name': 'Endothelin-3', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D019334', 'descriptor_name': 'Endothelin-3', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D005127', 'descriptor_name': 'Eye Color', 'qualifier_ui': '', 'qualifier_name': None, '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': 'Q000473', 'qualifier_name': 'pathology', 'is_major_topic': False}, {'descriptor_ui': 'D005260', 'descriptor_name': 'Female', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D006720', 'descriptor_name': 'Homozygote', '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': 'D015994', 'descriptor_name': 'Incidence', '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': 'D015995', 'descriptor_name': 'Prevalence', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D017466', 'descriptor_name': 'Receptors, Endothelin', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D017466', 'descriptor_name': 'Receptors, Endothelin', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D014849', 'descriptor_name': 'Waardenburg Syndrome', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D014849', 'descriptor_name': 'Waardenburg Syndrome', 'qualifier_ui': 'Q000453', 'qualifier_name': 'epidemiology', 'is_major_topic': False}, {'descriptor_ui': 'D014849', 'descriptor_name': 'Waardenburg Syndrome', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}], 'locations_count': 4, 'locations': [{'is_oa': True, 'landing_page_url': 'https://doi.org/10.1136/jmg.34.8.656', 'pdf_url': 'https://jmg.bmj.com/content/jmedgenet/34/8/656.full.pdf', 'source': {'id': 'https://openalex.org/S112540174', 'display_name': 'Journal of Medical Genetics', 'issn_l': '0022-2593', 'issn': ['0022-2593', '1468-6244'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310319945', 'host_organization_name': 'BMJ', 'host_organization_lineage': ['https://openalex.org/P4310319945'], 'host_organization_lineage_names': ['BMJ'], 'type': 'journal'}, 'license': None, 'license_id': None, 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, {'is_oa': True, 'landing_page_url': 'https://europepmc.org/articles/pmc1051028', 'pdf_url': 'https://europepmc.org/articles/pmc1051028?pdf=render', 'source': {'id': 'https://openalex.org/S4306400806', 'display_name': 'Europe PMC (PubMed Central)', 'issn_l': None, 'issn': None, 'is_oa': True, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I1303153112', 'host_organization_name': 'European Bioinformatics Institute', 'host_organization_lineage': ['https://openalex.org/I1303153112'], 'host_organization_lineage_names': ['European Bioinformatics Institute'], 'type': 'repository'}, 'license': None, 'license_id': None, 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, {'is_oa': True, 'landing_page_url': 'https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1051028', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S2764455111', 'display_name': 'PubMed Central', 'issn_l': None, 'issn': None, 'is_oa': True, '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': 'publishedVersion', 'is_accepted': True, 'is_published': True}, {'is_oa': False, 'landing_page_url': 'https://pubmed.ncbi.nlm.nih.gov/9279758', '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/10.1136/jmg.34.8.656', 'pdf_url': 'https://jmg.bmj.com/content/jmedgenet/34/8/656.full.pdf', 'source': {'id': 'https://openalex.org/S112540174', 'display_name': 'Journal of Medical Genetics', 'issn_l': '0022-2593', 'issn': ['0022-2593', '1468-6244'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310319945', 'host_organization_name': 'BMJ', 'host_organization_lineage': ['https://openalex.org/P4310319945'], 'host_organization_lineage_names': ['BMJ'], 'type': 'journal'}, 'license': None, 'license_id': None, 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, 'sustainable_development_goals': [{'display_name': 'Good health and well-being', 'id': 'https://metadata.un.org/sdg/3', 'score': 0.51}], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 74, 'referenced_works': ['https://openalex.org/W110925524', 'https://openalex.org/W1207662610', 'https://openalex.org/W135824410', 'https://openalex.org/W138190071', 'https://openalex.org/W141340547', 'https://openalex.org/W1501165471', 'https://openalex.org/W1528548097', 'https://openalex.org/W1566039277', 'https://openalex.org/W1567829440', 'https://openalex.org/W1576876710', 'https://openalex.org/W1902123239', 'https://openalex.org/W1922799898', 'https://openalex.org/W1966566830', 'https://openalex.org/W1968401717', 'https://openalex.org/W196967790', 'https://openalex.org/W1974626654', 'https://openalex.org/W1979441651', 'https://openalex.org/W1981174412', 'https://openalex.org/W1987610617', 'https://openalex.org/W1994881558', 'https://openalex.org/W1997830187', 'https://openalex.org/W2000983532', 'https://openalex.org/W2004228235', 'https://openalex.org/W2004266019', 'https://openalex.org/W2005988643', 'https://openalex.org/W2011686540', 'https://openalex.org/W2021448368', 'https://openalex.org/W2024079916', 'https://openalex.org/W2026773757', 'https://openalex.org/W2030586914', 'https://openalex.org/W2035726326', 'https://openalex.org/W2036673864', 'https://openalex.org/W2045594625', 'https://openalex.org/W2045935952', 'https://openalex.org/W2050328505', 'https://openalex.org/W2050740079', 'https://openalex.org/W2062230646', 'https://openalex.org/W2062390075', 'https://openalex.org/W2062423918', 'https://openalex.org/W2072487362', 'https://openalex.org/W2075990052', 'https://openalex.org/W2076849893', 'https://openalex.org/W2081462173', 'https://openalex.org/W2086771752', 'https://openalex.org/W2090364563', 'https://openalex.org/W2090848330', 'https://openalex.org/W2098342899', 'https://openalex.org/W2098533677', 'https://openalex.org/W2104058217', 'https://openalex.org/W2106057386', 'https://openalex.org/W2107601465', 'https://openalex.org/W2108720586', 'https://openalex.org/W2115643821', 'https://openalex.org/W2116306988', 'https://openalex.org/W2117916454', 'https://openalex.org/W2119521084', 'https://openalex.org/W2125842849', 'https://openalex.org/W2134254169', 'https://openalex.org/W2141934953', 'https://openalex.org/W2142653567', 'https://openalex.org/W2143051878', 'https://openalex.org/W2144809232', 'https://openalex.org/W2148060680', 'https://openalex.org/W2150780805', 'https://openalex.org/W2159708017', 'https://openalex.org/W2161699162', 'https://openalex.org/W2276117695', 'https://openalex.org/W2420398969', 'https://openalex.org/W2426946978', 'https://openalex.org/W2439165209', 'https://openalex.org/W257202846', 'https://openalex.org/W263280644', 'https://openalex.org/W304081458', 'https://openalex.org/W4250238036'], 'related_works': ['https://openalex.org/W4239204209', 'https://openalex.org/W4229959478', 'https://openalex.org/W2164927488', 'https://openalex.org/W2070826332', 'https://openalex.org/W2029873355', 'https://openalex.org/W2025637907', 'https://openalex.org/W2000146676', 'https://openalex.org/W1997889534', 'https://openalex.org/W1983536438', 'https://openalex.org/W1977885038'], 'abstract_inverted_index': {'Auditory-pigmentary': [0], 'syndromes': [1], 'are': [2, 27, 73, 110], 'caused': [3, 41, 85], 'by': [4, 37, 42, 86], 'physical': [5], 'absence': [6], 'of': [7, 18, 44, 58, 65, 95, 108], 'melanocytes': [8], 'from': [9], 'the': [10, 15, 19, 48, 59, 89, 115, 140, 149, 159], 'skin,': [11], 'hair,': [12], 'eyes,': [13], 'or': [14, 93], 'stria': [16], 'vascularis': [17], 'cochlea.': [20], 'Dominantly': [21], 'inherited': [22], 'examples': [23], 'with': [24, 56, 80], 'patchy': [25], 'depigmentation': [26], 'usually': [28], 'labelled': [29], 'Waardenburg': [30], 'syndrome': [31, 79], '(WS).': [32], 'Type': [33, 51, 75, 99], 'I': [34], 'WS,': [35], 'characterised': [36], 'dystopia': [38], 'canthorum,': [39], 'is': [40, 61, 102, 135, 146, 151], 'loss': [43], 'function': [45], 'mutations': [46, 87, 113], 'in': [47, 88, 114, 158], 'PAX3': [49], 'gene.': [50, 121], 'III': [52], 'WS': [53, 77, 101], '(Klein-Waardenburg': [54], 'syndrome,': [55], 'abnormalities': [57], 'arms)': [60], 'an': [62], 'extreme': [63], 'presentation': [64], 'type': [66], 'I;': [67], 'some': [68], 'but': [69], 'not': [70, 136], 'all': [71], 'patients': [72], 'homozygotes.': [74], 'IV': [76], '(Shah-Waardenburg': [78], 'Hirschsprung': [81], 'disease)': [82], 'can': [83], 'be': [84], 'genes': [90, 150], 'for': [91, 112], 'endothelin-3': [92], 'one': [94], 'its': [96, 163], 'receptors,': [97], 'EDNRB.': [98], 'II': [100], 'a': [103, 144], 'heterogeneous': [104], 'group,': [105], 'about': [106], '15%': [107], 'whom': [109], 'heterozygous': [111], 'MITF': [116], '(microphthalmia': [117], 'associated': [118], 'transcription': [119], 'factor)': [120], 'All': [122], 'these': [123], 'forms': [124], 'show': [125], 'marked': [126], 'variability': [127], 'even': [128, 142], 'within': [129], 'families,': [130], 'and': [131, 162], 'at': [132], 'present': [133], 'it': [134], 'possible': [137], 'to': [138, 153], 'predict': [139], 'severity,': [141], 'when': [143], 'mutation': [145], 'detected.': [147], 'Characterising': [148], 'helping': [152], 'unravel': [154], 'important': [155], 'developmental': [156], 'pathways': [157], 'neural': [160], 'crest': [161], 'derivatives.': [164]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W4246639364', 'counts_by_year': [{'year': 2024, 'cited_by_count': 13}, {'year': 2023, 'cited_by_count': 22}, {'year': 2022, 'cited_by_count': 20}, {'year': 2021, 'cited_by_count': 23}, {'year': 2020, 'cited_by_count': 27}, {'year': 2019, 'cited_by_count': 14}, {'year': 2018, 'cited_by_count': 25}, {'year': 2017, 'cited_by_count': 20}, {'year': 2016, 'cited_by_count': 19}, {'year': 2015, 'cited_by_count': 20}, {'year': 2014, 'cited_by_count': 17}, {'year': 2013, 'cited_by_count': 18}, {'year': 2012, 'cited_by_count': 17}], 'updated_date': '2024-09-19T08:47:03.461041', 'created_date': '2022-05-12'}