Get quick answers to your questions about the article from our AI researcher chatbot
{'id': 'https://openalex.org/W2474421695', 'doi': None, 'title': 'Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease.', 'display_name': 'Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease.', 'publication_year': 1997, 'publication_date': '1997-07-01', 'ids': {'openalex': 'https://openalex.org/W2474421695', 'mag': '2474421695', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/9359047'}, 'language': 'en', 'primary_location': {'is_oa': False, 'landing_page_url': 'https://pubmed.ncbi.nlm.nih.gov/9359047', '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}, 'type': 'article', 'type_crossref': 'journal-article', 'indexed_in': ['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/A5045999518', 'display_name': 'Christelle Bonod‐Bidaud', 'orcid': 'https://orcid.org/0000-0002-7180-2727'}, 'institutions': [{'id': 'https://openalex.org/I4210146666', 'display_name': 'Hôpital des Enfants', 'ror': 'https://ror.org/044hb6b32', 'country_code': 'FR', 'type': 'healthcare', 'lineage': ['https://openalex.org/I3019448017', 'https://openalex.org/I4210146666']}, {'id': 'https://openalex.org/I154526488', 'display_name': 'Inserm', 'ror': 'https://ror.org/02vjkv261', 'country_code': 'FR', 'type': 'government', 'lineage': ['https://openalex.org/I154526488']}], 'countries': ['FR'], 'is_corresponding': False, 'raw_author_name': 'Christelle Bidaud', 'raw_affiliation_strings': ['Unité de Recherches sur les Handicaps Génétiques de l’Enfant, INSERM U-393, Département de Génétique, and Clinique Chirurgicale Infantile, Hôpital des Enfants-Malades, Paris Cedex 15, France'], 'affiliations': [{'raw_affiliation_string': 'Unité de Recherches sur les Handicaps Génétiques de l’Enfant, INSERM U-393, Département de Génétique, and Clinique Chirurgicale Infantile, Hôpital des Enfants-Malades, Paris Cedex 15, France', 'institution_ids': ['https://openalex.org/I4210146666', 'https://openalex.org/I154526488']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5045427122', 'display_name': 'Rémi Salomon', 'orcid': 'https://orcid.org/0000-0002-3030-9506'}, 'institutions': [{'id': 'https://openalex.org/I4210146666', 'display_name': 'Hôpital des Enfants', 'ror': 'https://ror.org/044hb6b32', 'country_code': 'FR', 'type': 'healthcare', 'lineage': ['https://openalex.org/I3019448017', 'https://openalex.org/I4210146666']}, {'id': 'https://openalex.org/I154526488', 'display_name': 'Inserm', 'ror': 'https://ror.org/02vjkv261', 'country_code': 'FR', 'type': 'government', 'lineage': ['https://openalex.org/I154526488']}], 'countries': ['FR'], 'is_corresponding': False, 'raw_author_name': 'Rémi Salomon', 'raw_affiliation_strings': ['Unité de Recherches sur les Handicaps Génétiques de l’Enfant, INSERM U-393, Département de Génétique, and Clinique Chirurgicale Infantile, Hôpital des Enfants-Malades, Paris Cedex 15, France'], 'affiliations': [{'raw_affiliation_string': 'Unité de Recherches sur les Handicaps Génétiques de l’Enfant, INSERM U-393, Département de Génétique, and Clinique Chirurgicale Infantile, Hôpital des Enfants-Malades, Paris Cedex 15, France', 'institution_ids': ['https://openalex.org/I4210146666', 'https://openalex.org/I154526488']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5000137807', 'display_name': 'Guy Van Camp', 'orcid': 'https://orcid.org/0000-0001-5105-9000'}, 'institutions': [{'id': 'https://openalex.org/I149213910', 'display_name': 'University of Antwerp', 'ror': 'https://ror.org/008x57b05', 'country_code': 'BE', 'type': 'education', 'lineage': ['https://openalex.org/I149213910']}], 'countries': ['BE'], 'is_corresponding': False, 'raw_author_name': 'Guy Van Camp', 'raw_affiliation_strings': ['Department of Medical Genetics, University of Antwerp, Antwerp, Belgium,'], 'affiliations': [{'raw_affiliation_string': 'Department of Medical Genetics, University of Antwerp, Antwerp, Belgium,', 'institution_ids': ['https://openalex.org/I149213910']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5002737264', 'display_name': 'Anna Pelet', 'orcid': 'https://orcid.org/0000-0002-8353-1725'}, 'institutions': [{'id': 'https://openalex.org/I4210146666', 'display_name': 'Hôpital des Enfants', 'ror': 'https://ror.org/044hb6b32', 'country_code': 'FR', 'type': 'healthcare', 'lineage': ['https://openalex.org/I3019448017', 'https://openalex.org/I4210146666']}, {'id': 'https://openalex.org/I154526488', 'display_name': 'Inserm', 'ror': 'https://ror.org/02vjkv261', 'country_code': 'FR', 'type': 'government', 'lineage': ['https://openalex.org/I154526488']}], 'countries': ['FR'], 'is_corresponding': False, 'raw_author_name': 'Anna Pelet', 'raw_affiliation_strings': ['Unité de Recherches sur les Handicaps Génétiques de l’Enfant, INSERM U-393, Département de Génétique, and Clinique Chirurgicale Infantile, Hôpital des Enfants-Malades, Paris Cedex 15, France'], 'affiliations': [{'raw_affiliation_string': 'Unité de Recherches sur les Handicaps Génétiques de l’Enfant, INSERM U-393, Département de Génétique, and Clinique Chirurgicale Infantile, Hôpital des Enfants-Malades, Paris Cedex 15, France', 'institution_ids': ['https://openalex.org/I4210146666', 'https://openalex.org/I154526488']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5001445148', 'display_name': 'Tania Attié‐Bitach', 'orcid': 'https://orcid.org/0000-0002-1155-3626'}, 'institutions': [{'id': 'https://openalex.org/I4210146666', 'display_name': 'Hôpital des Enfants', 'ror': 'https://ror.org/044hb6b32', 'country_code': 'FR', 'type': 'healthcare', 'lineage': ['https://openalex.org/I3019448017', 'https://openalex.org/I4210146666']}, {'id': 'https://openalex.org/I154526488', 'display_name': 'Inserm', 'ror': 'https://ror.org/02vjkv261', 'country_code': 'FR', 'type': 'government', 'lineage': ['https://openalex.org/I154526488']}], 'countries': ['FR'], 'is_corresponding': False, 'raw_author_name': 'Tania Attié', 'raw_affiliation_strings': ['Unité de Recherches sur les Handicaps Génétiques de l’Enfant, INSERM U-393, Département de Génétique, and Clinique Chirurgicale Infantile, Hôpital des Enfants-Malades, Paris Cedex 15, France'], 'affiliations': [{'raw_affiliation_string': 'Unité de Recherches sur les Handicaps Génétiques de l’Enfant, INSERM U-393, Département de Génétique, and Clinique Chirurgicale Infantile, Hôpital des Enfants-Malades, Paris Cedex 15, France', 'institution_ids': ['https://openalex.org/I4210146666', 'https://openalex.org/I154526488']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5038322204', 'display_name': 'Charis Eng', 'orcid': 'https://orcid.org/0000-0002-3693-5145'}, 'institutions': [{'id': 'https://openalex.org/I4210117453', 'display_name': 'Dana-Farber Cancer Institute', 'ror': 'https://ror.org/02jzgtq86', 'country_code': 'US', 'type': 'facility', 'lineage': ['https://openalex.org/I4210117453']}, {'id': 'https://openalex.org/I111088046', 'display_name': 'Boston University', 'ror': 'https://ror.org/05qwgg493', 'country_code': 'US', 'type': 'education', 'lineage': ['https://openalex.org/I111088046']}, {'id': 'https://openalex.org/I136199984', 'display_name': 'Harvard University', 'ror': 'https://ror.org/03vek6s52', 'country_code': 'US', 'type': 'education', 'lineage': ['https://openalex.org/I136199984']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Charts Eng', 'raw_affiliation_strings': ['Division of Cancer Epidemiology and Control, Danna-Farber Cancer Institute, Department of Medicine, Harvard Medical School, Boston, USA'], 'affiliations': [{'raw_affiliation_string': 'Division of Cancer Epidemiology and Control, Danna-Farber Cancer Institute, Department of Medicine, Harvard Medical School, Boston, USA', 'institution_ids': ['https://openalex.org/I4210117453', 'https://openalex.org/I111088046', 'https://openalex.org/I136199984']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5058013204', 'display_name': 'M Bonduelle', 'orcid': 'https://orcid.org/0000-0002-1805-9962'}, 'institutions': [{'id': 'https://openalex.org/I13469542', 'display_name': 'Vrije Universiteit Brussel', 'ror': 'https://ror.org/006e5kg04', 'country_code': 'BE', 'type': 'education', 'lineage': ['https://openalex.org/I13469542']}], 'countries': ['BE'], 'is_corresponding': False, 'raw_author_name': 'Maryse Bonduelle', 'raw_affiliation_strings': ['Department of Medical Genetics, University of Brussels (VUB), Brussels, Belgium'], 'affiliations': [{'raw_affiliation_string': 'Department of Medical Genetics, University of Brussels (VUB), Brussels, Belgium', 'institution_ids': ['https://openalex.org/I13469542']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5028823382', 'display_name': 'Jeanne Amiel', 'orcid': 'https://orcid.org/0000-0001-5973-4728'}, 'institutions': [{'id': 'https://openalex.org/I4210146666', 'display_name': 'Hôpital des Enfants', 'ror': 'https://ror.org/044hb6b32', 'country_code': 'FR', 'type': 'healthcare', 'lineage': ['https://openalex.org/I3019448017', 'https://openalex.org/I4210146666']}, {'id': 'https://openalex.org/I154526488', 'display_name': 'Inserm', 'ror': 'https://ror.org/02vjkv261', 'country_code': 'FR', 'type': 'government', 'lineage': ['https://openalex.org/I154526488']}], 'countries': ['FR'], 'is_corresponding': False, 'raw_author_name': 'Jeanne Amiel', 'raw_affiliation_strings': ['Unité de Recherches sur les Handicaps Génétiques de l’Enfant, INSERM U-393, Département de Génétique, and Clinique Chirurgicale Infantile, Hôpital des Enfants-Malades, Paris Cedex 15, France'], 'affiliations': [{'raw_affiliation_string': 'Unité de Recherches sur les Handicaps Génétiques de l’Enfant, INSERM U-393, Département de Génétique, and Clinique Chirurgicale Infantile, Hôpital des Enfants-Malades, Paris Cedex 15, France', 'institution_ids': ['https://openalex.org/I4210146666', 'https://openalex.org/I154526488']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5009372608', 'display_name': 'Claire Nihoul‐Feketé', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I4210146666', 'display_name': 'Hôpital des Enfants', 'ror': 'https://ror.org/044hb6b32', 'country_code': 'FR', 'type': 'healthcare', 'lineage': ['https://openalex.org/I3019448017', 'https://openalex.org/I4210146666']}, {'id': 'https://openalex.org/I154526488', 'display_name': 'Inserm', 'ror': 'https://ror.org/02vjkv261', 'country_code': 'FR', 'type': 'government', 'lineage': ['https://openalex.org/I154526488']}], 'countries': ['FR'], 'is_corresponding': False, 'raw_author_name': 'Claire Nihoul-Fékété', 'raw_affiliation_strings': ['Unité de Recherches sur les Handicaps Génétiques de l’Enfant, INSERM U-393, Département de Génétique, and Clinique Chirurgicale Infantile, Hôpital des Enfants-Malades, Paris Cedex 15, France'], 'affiliations': [{'raw_affiliation_string': 'Unité de Recherches sur les Handicaps Génétiques de l’Enfant, INSERM U-393, Département de Génétique, and Clinique Chirurgicale Infantile, Hôpital des Enfants-Malades, Paris Cedex 15, France', 'institution_ids': ['https://openalex.org/I4210146666', 'https://openalex.org/I154526488']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5020555281', 'display_name': 'Patrick J. Willems', 'orcid': 'https://orcid.org/0000-0003-4667-2294'}, 'institutions': [{'id': 'https://openalex.org/I149213910', 'display_name': 'University of Antwerp', 'ror': 'https://ror.org/008x57b05', 'country_code': 'BE', 'type': 'education', 'lineage': ['https://openalex.org/I149213910']}], 'countries': ['BE'], 'is_corresponding': False, 'raw_author_name': 'Patrick J. Willems', 'raw_affiliation_strings': ['Department of Medical Genetics, University of Antwerp, Antwerp, Belgium,'], 'affiliations': [{'raw_affiliation_string': 'Department of Medical Genetics, University of Antwerp, Antwerp, Belgium,', 'institution_ids': ['https://openalex.org/I149213910']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5029002217', 'display_name': 'Arnold Münnich', 'orcid': 'https://orcid.org/0000-0001-6117-7588'}, 'institutions': [{'id': 'https://openalex.org/I4210146666', 'display_name': 'Hôpital des Enfants', 'ror': 'https://ror.org/044hb6b32', 'country_code': 'FR', 'type': 'healthcare', 'lineage': ['https://openalex.org/I3019448017', 'https://openalex.org/I4210146666']}, {'id': 'https://openalex.org/I154526488', 'display_name': 'Inserm', 'ror': 'https://ror.org/02vjkv261', 'country_code': 'FR', 'type': 'government', 'lineage': ['https://openalex.org/I154526488']}], 'countries': ['FR'], 'is_corresponding': False, 'raw_author_name': 'Arnold Munnich', 'raw_affiliation_strings': ['Unité de Recherches sur les Handicaps Génétiques de l’Enfant, INSERM U-393, Département de Génétique, and Clinique Chirurgicale Infantile, Hôpital des Enfants-Malades, Paris Cedex 15, France'], 'affiliations': [{'raw_affiliation_string': 'Unité de Recherches sur les Handicaps Génétiques de l’Enfant, INSERM U-393, Département de Génétique, and Clinique Chirurgicale Infantile, Hôpital des Enfants-Malades, Paris Cedex 15, France', 'institution_ids': ['https://openalex.org/I4210146666', 'https://openalex.org/I154526488']}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5028202256', 'display_name': 'Stanislas Lyonnet', 'orcid': 'https://orcid.org/0000-0001-5426-9417'}, 'institutions': [{'id': 'https://openalex.org/I4210146666', 'display_name': 'Hôpital des Enfants', 'ror': 'https://ror.org/044hb6b32', 'country_code': 'FR', 'type': 'healthcare', 'lineage': ['https://openalex.org/I3019448017', 'https://openalex.org/I4210146666']}, {'id': 'https://openalex.org/I154526488', 'display_name': 'Inserm', 'ror': 'https://ror.org/02vjkv261', 'country_code': 'FR', 'type': 'government', 'lineage': ['https://openalex.org/I154526488']}], 'countries': ['FR'], 'is_corresponding': False, 'raw_author_name': 'Stanislas Lyonnet', 'raw_affiliation_strings': ['Unité de Recherches sur les Handicaps Génétiques de l’Enfant, INSERM U-393, Département de Génétique, and Clinique Chirurgicale Infantile, Hôpital des Enfants-Malades, Paris Cedex 15, France'], 'affiliations': [{'raw_affiliation_string': 'Unité de Recherches sur les Handicaps Génétiques de l’Enfant, INSERM U-393, Département de Génétique, and Clinique Chirurgicale Infantile, Hôpital des Enfants-Malades, Paris Cedex 15, France', 'institution_ids': ['https://openalex.org/I4210146666', 'https://openalex.org/I154526488']}]}], 'institution_assertions': [], 'countries_distinct_count': 3, 'institutions_distinct_count': 7, 'corresponding_author_ids': [], 'corresponding_institution_ids': [], 'apc_list': {'value': 2990, 'currency': 'EUR', 'value_usd': 3690, 'provenance': 'doaj'}, 'apc_paid': None, 'fwci': 2.082, 'has_fulltext': False, 'cited_by_count': 86, 'citation_normalized_percentile': {'value': 0.772289, 'is_in_top_1_percent': False, 'is_in_top_10_percent': False}, 'cited_by_percentile_year': {'min': 95, 'max': 96}, 'biblio': {'volume': '5', 'issue': '4', 'first_page': '247', 'last_page': '51'}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T12237', 'display_name': 'Hirschsprung Disease and Enteric Nervous System Development', 'score': 0.9999, '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': 0.9999, '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/T12716', 'display_name': 'Etiology and Management of Abdominal Wall Defects', 'score': 0.9439, '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/T13834', 'display_name': "Pathogenesis and Treatment of Whipple's Disease", 'score': 0.9038, 'subfield': {'id': 'https://openalex.org/subfields/2734', 'display_name': 'Pathology and Forensic Medicine'}, '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/endothelin-3', 'display_name': 'Endothelin 3', 'score': 0.72311246}, {'id': 'https://openalex.org/keywords/megacolon', 'display_name': 'Megacolon', 'score': 0.65601075}, {'id': 'https://openalex.org/keywords/hirschsprungs-disease', 'display_name': "Hirschsprung's disease", 'score': 0.5885298}, {'id': 'https://openalex.org/keywords/hirschsprung-disease', 'display_name': 'Hirschsprung Disease', 'score': 0.581043}], 'concepts': [{'id': 'https://openalex.org/C185856081', 'wikidata': 'https://www.wikidata.org/wiki/Q14916286', 'display_name': 'Glial cell line-derived neurotrophic factor', 'level': 4, 'score': 0.8061564}, {'id': 'https://openalex.org/C75563809', 'wikidata': 'https://www.wikidata.org/wiki/Q2656896', 'display_name': 'Missense mutation', 'level': 4, 'score': 0.75830406}, {'id': 'https://openalex.org/C2911175447', 'wikidata': 'https://www.wikidata.org/wiki/Q18023152', 'display_name': 'Endothelin 3', 'level': 5, 'score': 0.72311246}, {'id': 'https://openalex.org/C2779222388', 'wikidata': 'https://www.wikidata.org/wiki/Q1754226', 'display_name': 'Megacolon', 'level': 2, 'score': 0.65601075}, {'id': 'https://openalex.org/C54355233', 'wikidata': 'https://www.wikidata.org/wiki/Q7162', 'display_name': 'Genetics', 'level': 1, 'score': 0.5927702}, {'id': 'https://openalex.org/C2779089422', 'wikidata': 'https://www.wikidata.org/wiki/Q1343645', 'display_name': "Hirschsprung's disease", 'level': 3, 'score': 0.5885298}, {'id': 'https://openalex.org/C180754005', 'wikidata': 'https://www.wikidata.org/wiki/Q80726', 'display_name': 'Allele', 'level': 3, 'score': 0.52092427}, {'id': 'https://openalex.org/C84597430', 'wikidata': 'https://www.wikidata.org/wiki/Q106227', 'display_name': 'Locus (genetics)', 'level': 3, 'score': 0.50604004}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.46743837}, {'id': 'https://openalex.org/C104317684', 'wikidata': 'https://www.wikidata.org/wiki/Q7187', 'display_name': 'Gene', 'level': 2, 'score': 0.44359148}, {'id': 'https://openalex.org/C501734568', 'wikidata': 'https://www.wikidata.org/wiki/Q42918', 'display_name': 'Mutation', 'level': 3, 'score': 0.41195893}, {'id': 'https://openalex.org/C144980905', 'wikidata': 'https://www.wikidata.org/wiki/Q24721308', 'display_name': 'Endothelin receptor', 'level': 3, 'score': 0.39460757}, {'id': 'https://openalex.org/C2909649922', 'wikidata': 'https://www.wikidata.org/wiki/Q106318493', 'display_name': 'Endothelins', 'level': 4, 'score': 0.3569837}, {'id': 'https://openalex.org/C71924100', 'wikidata': 'https://www.wikidata.org/wiki/Q11190', 'display_name': 'Medicine', 'level': 0, 'score': 0.3308568}, {'id': 'https://openalex.org/C2779134260', 'wikidata': 'https://www.wikidata.org/wiki/Q12136', 'display_name': 'Disease', 'level': 2, 'score': 0.32020405}, {'id': 'https://openalex.org/C170493617', 'wikidata': 'https://www.wikidata.org/wiki/Q208467', 'display_name': 'Receptor', 'level': 2, 'score': 0.29543}, {'id': 'https://openalex.org/C160539049', 'wikidata': 'https://www.wikidata.org/wiki/Q3064187', 'display_name': 'Neurotrophic factors', 'level': 3, 'score': 0.2790057}, {'id': 'https://openalex.org/C126322002', 'wikidata': 'https://www.wikidata.org/wiki/Q11180', 'display_name': 'Internal medicine', 'level': 1, 'score': 0.19192156}], 'mesh': [{'descriptor_ui': 'D019334', 'descriptor_name': 'Endothelin-3', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D006627', 'descriptor_name': 'Hirschsprung Disease', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D009154', 'descriptor_name': 'Mutation', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D019334', 'descriptor_name': 'Endothelin-3', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D005091', 'descriptor_name': 'Exons', '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': 'D006579', 'descriptor_name': 'Heterozygote', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D006627', 'descriptor_name': 'Hirschsprung Disease', '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': 'D008297', 'descriptor_name': 'Male', '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': 'D018807', 'descriptor_name': 'Polymorphism, Single-Stranded Conformational', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D000090063', 'descriptor_name': 'Proto-Oncogene Mas', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D013577', 'descriptor_name': 'Syndrome', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D014849', 'descriptor_name': 'Waardenburg Syndrome', '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}], 'locations_count': 1, 'locations': [{'is_oa': False, 'landing_page_url': 'https://pubmed.ncbi.nlm.nih.gov/9359047', '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': [], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 24, 'referenced_works': ['https://openalex.org/W1971003043', 'https://openalex.org/W1973176928', 'https://openalex.org/W1974626654', 'https://openalex.org/W1981493299', 'https://openalex.org/W1989457545', 'https://openalex.org/W1999693507', 'https://openalex.org/W2001252478', 'https://openalex.org/W2018139276', 'https://openalex.org/W2018214833', 'https://openalex.org/W2024058819', 'https://openalex.org/W2030996806', 'https://openalex.org/W2050963778', 'https://openalex.org/W2062423918', 'https://openalex.org/W2064140701', 'https://openalex.org/W2065855600', 'https://openalex.org/W2074170762', 'https://openalex.org/W2075990052', 'https://openalex.org/W2078128783', 'https://openalex.org/W2083248512', 'https://openalex.org/W2083715717', 'https://openalex.org/W2104058217', 'https://openalex.org/W2134254169', 'https://openalex.org/W2143051878', 'https://openalex.org/W2316883228'], 'related_works': ['https://openalex.org/W2474421695', 'https://openalex.org/W2421165025', 'https://openalex.org/W2171895295', 'https://openalex.org/W2166717297', 'https://openalex.org/W2138405903', 'https://openalex.org/W2057739827', 'https://openalex.org/W2025970721', 'https://openalex.org/W2017189173', 'https://openalex.org/W1965754344', 'https://openalex.org/W153179802'], 'abstract_inverted_index': None, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W2474421695', 'counts_by_year': [{'year': 2023, 'cited_by_count': 2}, {'year': 2021, 'cited_by_count': 2}, {'year': 2015, 'cited_by_count': 1}, {'year': 2014, 'cited_by_count': 1}, {'year': 2013, 'cited_by_count': 1}, {'year': 2012, 'cited_by_count': 6}], 'updated_date': '2024-09-19T09:35:31.412025', 'created_date': '2016-07-22'}