Get quick answers to your questions about the article from our AI researcher chatbot
{'id': 'https://openalex.org/W4285592178', 'doi': 'https://doi.org/10.1002/jcla.24587', 'title': 'Whole‐exome sequencing identified five novel <i>de novo</i> variants in patients with unexplained intellectual disability', 'display_name': 'Whole‐exome sequencing identified five novel <i>de novo</i> variants in patients with unexplained intellectual disability', 'publication_year': 2022, 'publication_date': '2022-07-15', 'ids': {'openalex': 'https://openalex.org/W4285592178', 'doi': 'https://doi.org/10.1002/jcla.24587', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/35837997'}, 'language': 'en', 'primary_location': {'is_oa': True, 'landing_page_url': 'https://doi.org/10.1002/jcla.24587', 'pdf_url': 'https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/jcla.24587', 'source': {'id': 'https://openalex.org/S28295008', 'display_name': 'Journal of Clinical Laboratory Analysis', 'issn_l': '0887-8013', 'issn': ['0887-8013', '1098-2825'], 'is_oa': True, 'is_in_doaj': True, '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': 'cc-by-nc', 'license_id': 'https://openalex.org/licenses/cc-by-nc', '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://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/jcla.24587', 'any_repository_has_fulltext': True}, 'authorships': [{'author_position': 'first', 'author': {'id': 'https://openalex.org/A5013015306', 'display_name': 'Wenqiu Zhang', 'orcid': 'https://orcid.org/0009-0000-5240-1373'}, 'institutions': [{'id': 'https://openalex.org/I178232147', 'display_name': 'Guizhou University', 'ror': 'https://ror.org/02wmsc916', 'country_code': 'CN', 'type': 'education', 'lineage': ['https://openalex.org/I178232147']}, {'id': 'https://openalex.org/I4210154454', 'display_name': "Guizhou Provincial People's Hospital", 'ror': 'https://ror.org/046q1bp69', 'country_code': 'CN', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210154454']}], 'countries': ['CN'], 'is_corresponding': False, 'raw_author_name': 'Wenqiu Zhang', 'raw_affiliation_strings': ["Prenatal Diagnosis Center, Guizhou Provincial People's hospital, Guiyang, China", 'School of Medicine, Guizhou University, Guiyang, China'], 'affiliations': [{'raw_affiliation_string': 'School of Medicine, Guizhou University, Guiyang, China', 'institution_ids': ['https://openalex.org/I178232147']}, {'raw_affiliation_string': "Prenatal Diagnosis Center, Guizhou Provincial People's hospital, Guiyang, China", 'institution_ids': ['https://openalex.org/I4210154454']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5103452489', 'display_name': 'Li Hu', 'orcid': 'https://orcid.org/0009-0009-4972-8047'}, 'institutions': [{'id': 'https://openalex.org/I4210154454', 'display_name': "Guizhou Provincial People's Hospital", 'ror': 'https://ror.org/046q1bp69', 'country_code': 'CN', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210154454']}], 'countries': ['CN'], 'is_corresponding': False, 'raw_author_name': 'Li Hu', 'raw_affiliation_strings': ["Prenatal Diagnosis Center, Guizhou Provincial People's hospital, Guiyang, China"], 'affiliations': [{'raw_affiliation_string': "Prenatal Diagnosis Center, Guizhou Provincial People's hospital, Guiyang, China", 'institution_ids': ['https://openalex.org/I4210154454']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5103016324', 'display_name': 'Xinyi Huang', 'orcid': 'https://orcid.org/0000-0002-0610-2054'}, 'institutions': [{'id': 'https://openalex.org/I53411278', 'display_name': 'Chengdu University of Traditional Chinese Medicine', 'ror': 'https://ror.org/00pcrz470', 'country_code': 'CN', 'type': 'education', 'lineage': ['https://openalex.org/I53411278']}], 'countries': ['CN'], 'is_corresponding': False, 'raw_author_name': 'Xinyi Huang', 'raw_affiliation_strings': ['School of Medical and Life Sciences, Chengdu University of Traditional Chinese Medicine, Chengdu, China'], 'affiliations': [{'raw_affiliation_string': 'School of Medical and Life Sciences, Chengdu University of Traditional Chinese Medicine, Chengdu, China', 'institution_ids': ['https://openalex.org/I53411278']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5101933687', 'display_name': 'Dan Xie', 'orcid': 'https://orcid.org/0000-0003-3173-3920'}, 'institutions': [{'id': 'https://openalex.org/I178232147', 'display_name': 'Guizhou University', 'ror': 'https://ror.org/02wmsc916', 'country_code': 'CN', 'type': 'education', 'lineage': ['https://openalex.org/I178232147']}, {'id': 'https://openalex.org/I4210154454', 'display_name': "Guizhou Provincial People's Hospital", 'ror': 'https://ror.org/046q1bp69', 'country_code': 'CN', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210154454']}], 'countries': ['CN'], 'is_corresponding': False, 'raw_author_name': 'Dan Xie', 'raw_affiliation_strings': ["Prenatal Diagnosis Center, Guizhou Provincial People's hospital, Guiyang, China", 'School of Medicine, Guizhou University, Guiyang, China'], 'affiliations': [{'raw_affiliation_string': 'School of Medicine, Guizhou University, Guiyang, China', 'institution_ids': ['https://openalex.org/I178232147']}, {'raw_affiliation_string': "Prenatal Diagnosis Center, Guizhou Provincial People's hospital, Guiyang, China", 'institution_ids': ['https://openalex.org/I4210154454']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5011738724', 'display_name': 'Jiangfen Wu', 'orcid': 'https://orcid.org/0000-0002-3940-7014'}, 'institutions': [{'id': 'https://openalex.org/I178232147', 'display_name': 'Guizhou University', 'ror': 'https://ror.org/02wmsc916', 'country_code': 'CN', 'type': 'education', 'lineage': ['https://openalex.org/I178232147']}, {'id': 'https://openalex.org/I4210154454', 'display_name': "Guizhou Provincial People's Hospital", 'ror': 'https://ror.org/046q1bp69', 'country_code': 'CN', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210154454']}], 'countries': ['CN'], 'is_corresponding': False, 'raw_author_name': 'Jiangfen Wu', 'raw_affiliation_strings': ["Prenatal Diagnosis Center, Guizhou Provincial People's hospital, Guiyang, China", 'School of Medicine, Guizhou University, Guiyang, China'], 'affiliations': [{'raw_affiliation_string': 'School of Medicine, Guizhou University, Guiyang, China', 'institution_ids': ['https://openalex.org/I178232147']}, {'raw_affiliation_string': "Prenatal Diagnosis Center, Guizhou Provincial People's hospital, Guiyang, China", 'institution_ids': ['https://openalex.org/I4210154454']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5087697853', 'display_name': 'Xiaoling Fu', 'orcid': 'https://orcid.org/0000-0002-4761-8153'}, 'institutions': [{'id': 'https://openalex.org/I4210154454', 'display_name': "Guizhou Provincial People's Hospital", 'ror': 'https://ror.org/046q1bp69', 'country_code': 'CN', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210154454']}], 'countries': ['CN'], 'is_corresponding': True, 'raw_author_name': 'Xiaoling Fu', 'raw_affiliation_strings': ["Department of Pediatrics, Guizhou Provincial People's hospital, Guiyang, China"], 'affiliations': [{'raw_affiliation_string': "Department of Pediatrics, Guizhou Provincial People's hospital, Guiyang, China", 'institution_ids': ['https://openalex.org/I4210154454']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5049126518', 'display_name': 'Liang Dai-yi', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I4210154454', 'display_name': "Guizhou Provincial People's Hospital", 'ror': 'https://ror.org/046q1bp69', 'country_code': 'CN', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210154454']}], 'countries': ['CN'], 'is_corresponding': True, 'raw_author_name': 'Daiyi Liang', 'raw_affiliation_strings': ["Department of Neurology, Guizhou Provincial People's hospital, Guiyang, China"], 'affiliations': [{'raw_affiliation_string': "Department of Neurology, Guizhou Provincial People's hospital, Guiyang, China", 'institution_ids': ['https://openalex.org/I4210154454']}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5058487121', 'display_name': 'Sheng‐Wen Huang', 'orcid': 'https://orcid.org/0000-0003-0394-240X'}, 'institutions': [{'id': 'https://openalex.org/I178232147', 'display_name': 'Guizhou University', 'ror': 'https://ror.org/02wmsc916', 'country_code': 'CN', 'type': 'education', 'lineage': ['https://openalex.org/I178232147']}, {'id': 'https://openalex.org/I4210154454', 'display_name': "Guizhou Provincial People's Hospital", 'ror': 'https://ror.org/046q1bp69', 'country_code': 'CN', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210154454']}], 'countries': ['CN'], 'is_corresponding': True, 'raw_author_name': 'Shengwen Huang', 'raw_affiliation_strings': ["NHC Key Laboratory of Pulmonary Immunological Diseases, Guizhou Provincial People's Hospital, Guiyang, China", "Prenatal Diagnosis Center, Guizhou Provincial People's hospital, Guiyang, China", 'School of Medicine, Guizhou University, Guiyang, China'], 'affiliations': [{'raw_affiliation_string': 'School of Medicine, Guizhou University, Guiyang, China', 'institution_ids': ['https://openalex.org/I178232147']}, {'raw_affiliation_string': "Prenatal Diagnosis Center, Guizhou Provincial People's hospital, Guiyang, China", 'institution_ids': ['https://openalex.org/I4210154454']}, {'raw_affiliation_string': "NHC Key Laboratory of Pulmonary Immunological Diseases, Guizhou Provincial People's Hospital, Guiyang, China", 'institution_ids': ['https://openalex.org/I4210154454']}]}], 'countries_distinct_count': 1, 'institutions_distinct_count': 3, 'corresponding_author_ids': ['https://openalex.org/A5087697853', 'https://openalex.org/A5049126518', 'https://openalex.org/A5058487121'], 'corresponding_institution_ids': ['https://openalex.org/I4210154454', 'https://openalex.org/I4210154454', 'https://openalex.org/I178232147', 'https://openalex.org/I4210154454'], 'apc_list': {'value': 3850, 'currency': 'USD', 'value_usd': 3850, 'provenance': 'doaj'}, 'apc_paid': {'value': 3850, 'currency': 'USD', 'value_usd': 3850, 'provenance': 'doaj'}, 'fwci': 0.282, 'has_fulltext': True, 'fulltext_origin': 'pdf', 'cited_by_count': 1, 'citation_normalized_percentile': {'value': 0.522141, 'is_in_top_1_percent': False, 'is_in_top_10_percent': False}, 'cited_by_percentile_year': {'min': 61, 'max': 72}, 'biblio': {'volume': '36', 'issue': '9', 'first_page': None, 'last_page': None}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T11772', 'display_name': 'Molecular Basis of Rett Syndrome and Related Disorders', 'score': 0.9974, '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'}}, 'topics': [{'id': 'https://openalex.org/T11772', 'display_name': 'Molecular Basis of Rett Syndrome and Related Disorders', 'score': 0.9974, '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'}}, {'id': 'https://openalex.org/T11642', 'display_name': 'Standards and Guidelines for Genetic Variant Interpretation', 'score': 0.9971, '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'}}, {'id': 'https://openalex.org/T11213', 'display_name': 'Genomic Rearrangements and Copy Number Variations', 'score': 0.9869, '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/sanger-sequencing', 'display_name': 'Sanger sequencing', 'score': 0.8081206}, {'id': 'https://openalex.org/keywords/exome', 'display_name': 'Exome', 'score': 0.55949664}, {'id': 'https://openalex.org/keywords/exome-sequencing', 'display_name': 'Exome Sequencing', 'score': 0.486189}, {'id': 'https://openalex.org/keywords/loss-function', 'display_name': 'Loss function', 'score': 0.43298542}], 'concepts': [{'id': 'https://openalex.org/C551499885', 'wikidata': 'https://www.wikidata.org/wiki/Q183560', 'display_name': 'Intellectual disability', 'level': 2, 'score': 0.8719285}, {'id': 'https://openalex.org/C16671776', 'wikidata': 'https://www.wikidata.org/wiki/Q5420592', 'display_name': 'Exome sequencing', 'level': 4, 'score': 0.85855436}, {'id': 'https://openalex.org/C76818968', 'wikidata': 'https://www.wikidata.org/wiki/Q181940', 'display_name': 'Sanger sequencing', 'level': 4, 'score': 0.8081206}, {'id': 'https://openalex.org/C54355233', 'wikidata': 'https://www.wikidata.org/wiki/Q7162', 'display_name': 'Genetics', 'level': 1, 'score': 0.6734681}, {'id': 'https://openalex.org/C10590036', 'wikidata': 'https://www.wikidata.org/wiki/Q417664', 'display_name': 'Exome', 'level': 5, 'score': 0.55949664}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.5177161}, {'id': 'https://openalex.org/C104317684', 'wikidata': 'https://www.wikidata.org/wiki/Q7187', 'display_name': 'Gene', 'level': 2, 'score': 0.51701415}, {'id': 'https://openalex.org/C64618202', 'wikidata': 'https://www.wikidata.org/wiki/Q3733697', 'display_name': 'Genetic heterogeneity', 'level': 4, 'score': 0.5097329}, {'id': 'https://openalex.org/C501734568', 'wikidata': 'https://www.wikidata.org/wiki/Q42918', 'display_name': 'Mutation', 'level': 3, 'score': 0.46765345}, {'id': 'https://openalex.org/C105951970', 'wikidata': 'https://www.wikidata.org/wiki/Q1036748', 'display_name': 'Loss function', 'level': 4, 'score': 0.43298542}, {'id': 'https://openalex.org/C71924100', 'wikidata': 'https://www.wikidata.org/wiki/Q11190', 'display_name': 'Medicine', 'level': 0, 'score': 0.33789703}, {'id': 'https://openalex.org/C127716648', 'wikidata': 'https://www.wikidata.org/wiki/Q104053', 'display_name': 'Phenotype', 'level': 3, 'score': 0.13919139}], 'mesh': [{'descriptor_ui': 'D008607', 'descriptor_name': 'Intellectual Disability', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D002648', 'descriptor_name': 'Child', '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': 'D008607', 'descriptor_name': 'Intellectual Disability', 'qualifier_ui': 'Q000473', 'qualifier_name': 'pathology', 'is_major_topic': False}, {'descriptor_ui': 'D008607', 'descriptor_name': 'Intellectual Disability', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D009154', 'descriptor_name': 'Mutation', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D009154', 'descriptor_name': 'Mutation', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D000073359', 'descriptor_name': 'Whole Exome Sequencing', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}], 'locations_count': 3, 'locations': [{'is_oa': True, 'landing_page_url': 'https://doi.org/10.1002/jcla.24587', 'pdf_url': 'https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/jcla.24587', 'source': {'id': 'https://openalex.org/S28295008', 'display_name': 'Journal of Clinical Laboratory Analysis', 'issn_l': '0887-8013', 'issn': ['0887-8013', '1098-2825'], 'is_oa': True, 'is_in_doaj': True, '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': 'cc-by-nc', 'license_id': 'https://openalex.org/licenses/cc-by-nc', 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, {'is_oa': True, 'landing_page_url': 'https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9459325', '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/35837997', '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/jcla.24587', 'pdf_url': 'https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/jcla.24587', 'source': {'id': 'https://openalex.org/S28295008', 'display_name': 'Journal of Clinical Laboratory Analysis', 'issn_l': '0887-8013', 'issn': ['0887-8013', '1098-2825'], 'is_oa': True, 'is_in_doaj': True, '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': 'cc-by-nc', 'license_id': 'https://openalex.org/licenses/cc-by-nc', 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, 'sustainable_development_goals': [{'id': 'https://metadata.un.org/sdg/4', 'score': 0.72, 'display_name': 'Quality education'}], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 43, 'referenced_works': ['https://openalex.org/W1885358257', 'https://openalex.org/W1966945529', 'https://openalex.org/W1970298553', 'https://openalex.org/W2005215757', 'https://openalex.org/W2012091274', 'https://openalex.org/W2016532227', 'https://openalex.org/W2023713129', 'https://openalex.org/W2050192633', 'https://openalex.org/W2051978340', 'https://openalex.org/W2061303238', 'https://openalex.org/W2064678751', 'https://openalex.org/W2074091738', 'https://openalex.org/W2082432121', 'https://openalex.org/W2085916218', 'https://openalex.org/W2093898516', 'https://openalex.org/W2096252835', 'https://openalex.org/W2101708515', 'https://openalex.org/W2106588029', 'https://openalex.org/W2113209935', 'https://openalex.org/W2126756606', 'https://openalex.org/W2132244902', 'https://openalex.org/W2147843802', 'https://openalex.org/W2149695265', 'https://openalex.org/W2155963584', 'https://openalex.org/W2160547162', 'https://openalex.org/W2172876010', 'https://openalex.org/W2223408969', 'https://openalex.org/W2229627499', 'https://openalex.org/W2255163678', 'https://openalex.org/W2566587656', 'https://openalex.org/W2621205190', 'https://openalex.org/W2794214076', 'https://openalex.org/W2891274817', 'https://openalex.org/W2891355949', 'https://openalex.org/W2893999696', 'https://openalex.org/W2915097788', 'https://openalex.org/W2978435494', 'https://openalex.org/W2980116089', 'https://openalex.org/W2989870787', 'https://openalex.org/W3004386091', 'https://openalex.org/W3045616887', 'https://openalex.org/W3162887009', 'https://openalex.org/W4285592178'], 'related_works': ['https://openalex.org/W3155789666', 'https://openalex.org/W3011357560', 'https://openalex.org/W2975723627', 'https://openalex.org/W2947195574', 'https://openalex.org/W2883352634', 'https://openalex.org/W2568725330', 'https://openalex.org/W2514251678', 'https://openalex.org/W2093932542', 'https://openalex.org/W2041066325', 'https://openalex.org/W1963926818'], 'abstract_inverted_index': {'Intellectual': [0], 'disability': [1], '(ID)': [2], 'represents': [3], 'a': [4], 'neurodevelopmental': [5], 'disorder,': [6], 'which': [7], 'is': [8, 28, 36], 'characterized': [9], 'by': [10, 31], 'marked': [11], 'defects': [12], 'in': [13, 83, 117], 'the': [14, 24, 45, 66, 84, 102, 118, 157, 168, 178, 181], 'intellectual': [15], 'function': [16, 160], 'and': [17, 34, 77, 86, 93, 96, 126, 135, 147, 159, 174, 184], 'adaptive': [18], 'behavior,': [19], 'with': [20, 57], 'an': [21], 'onset': [22], 'during': [23], 'developmental': [25], 'period.': [26], 'ID': [27, 49, 59], 'mainly': [29], 'caused': [30], 'genetic': [32, 46, 182], 'factors,': [33], 'it': [35], 'extremely': [37], 'genetically': [38], 'heterogeneous.': [39], 'This': [40], 'study': [41], 'aims': [42], 'to': [43, 144, 166, 176], 'identify': [44], 'cause': [47], 'of': [48, 68, 161, 171, 180, 186], 'using': [50], 'trio-WES': [51], 'analysis.We': [52], 'recruited': [53], 'four': [54, 113, 119], 'pediatric': [55], 'patients': [56, 85], 'unexplained': [58], 'from': [60, 112], 'non-consanguineous': [61], 'families,': [62], 'who': [63], 'presented': [64], 'at': [65, 150], 'Department': [67], 'Pediatrics,': [69], 'Guizhou': [70], 'Provincial': [71], "People's": [72], 'Hospital.': [73], 'Whole-exome': [74], 'sequencing': [75, 79], '(WES)': [76], 'Sanger': [78], 'validation': [80], 'were': [81, 99, 141, 148], 'performed': [82, 100], 'their': [87], 'unaffected': [88], 'parents.': [89], 'Furthermore,': [90], 'conservative': [91], 'analysis': [92], 'protein': [94], 'structural': [95], 'functional': [97], 'prediction': [98], 'on': [101], 'identified': [103, 106], 'pathogenic': [104], 'variants.We': [105], 'five': [107], 'novel': [108], 'de': [109], 'novo': [110], 'mutations': [111, 140], 'known': [114], 'ID-causing': [115], 'genes': [116, 173], 'included': [120], 'patients,': [121], 'namely': [122], 'COL4A1': [123], '(c.2786T>A,': [124], 'p.V929D': [125], 'c.2797G>A,': [127], 'p.G933S),': [128], 'TBR1': [129], '(c.1639_1640insCCCGCAGTCC,': [130], 'p.Y553Sfs*124),': [131], 'CHD7': [132], '(c.7013A>T,': [133], 'p.Q2338L),': [134], 'TUBA1A': [136], '(c.1350del,': [137], 'p.E450Dfs*34).': [138], 'These': [139], 'all': [142], 'predicted': [143], 'be': [145], 'deleterious': [146], 'located': [149], 'highly': [151], 'conserved': [152], 'domains': [153], 'that': [154], 'might': [155], 'affect': [156], 'structure': [158], 'these': [162], 'proteins.Our': [163], 'findings': [164], 'contribute': [165], 'expanding': [167], 'mutational': [169], 'spectrum': [170], 'ID-related': [172], 'help': [175], 'deepen': [177], 'understanding': [179], 'causes': [183], 'heterogeneity': [185], 'ID.': [187]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W4285592178', 'counts_by_year': [{'year': 2022, 'cited_by_count': 1}], 'updated_date': '2024-09-13T07:08:38.312839', 'created_date': '2022-07-16'}