Publication Information

{'id': 'https://openalex.org/W2153330367', 'doi': 'https://doi.org/10.1136/jmg.35.12.1009', 'title': 'The C677T mutation of the 5,10-methylenetetrahydrofolate reductase gene is a moderate risk factor for spina bifida in Italy.', 'display_name': 'The C677T mutation of the 5,10-methylenetetrahydrofolate reductase gene is a moderate risk factor for spina bifida in Italy.', 'publication_year': 1998, 'publication_date': '1998-12-01', 'ids': {'openalex': 'https://openalex.org/W2153330367', 'doi': 'https://doi.org/10.1136/jmg.35.12.1009', 'mag': '2153330367', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/9863598', 'pmcid': 'https://www.ncbi.nlm.nih.gov/pmc/articles/1051513'}, 'language': 'en', 'primary_location': {'is_oa': True, 'landing_page_url': 'https://doi.org/10.1136/jmg.35.12.1009', 'pdf_url': 'https://jmg.bmj.com/content/jmedgenet/35/12/1009.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': 'article', 'type_crossref': 'journal-article', 'indexed_in': ['crossref', 'pubmed'], 'open_access': {'is_oa': True, 'oa_status': 'bronze', 'oa_url': 'https://jmg.bmj.com/content/jmedgenet/35/12/1009.full.pdf', 'any_repository_has_fulltext': True}, 'authorships': [{'author_position': 'first', 'author': {'id': 'https://openalex.org/A5080314905', 'display_name': 'R. de Franchis', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I4210117450', 'display_name': 'Federico II University Hospital', 'ror': 'https://ror.org/02jr6tp70', 'country_code': 'IT', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210117450', 'https://openalex.org/I71267560']}], 'countries': ['IT'], 'is_corresponding': False, 'raw_author_name': 'R de Franchis', 'raw_affiliation_strings': ['Department of Paediatrics, Federico II University, Napoli, Italy.'], 'affiliations': [{'raw_affiliation_string': 'Department of Paediatrics, Federico II University, Napoli, Italy.', 'institution_ids': ['https://openalex.org/I4210117450']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5055160076', 'display_name': 'Anna Buoninconti', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I4210117450', 'display_name': 'Federico II University Hospital', 'ror': 'https://ror.org/02jr6tp70', 'country_code': 'IT', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210117450', 'https://openalex.org/I71267560']}], 'countries': ['IT'], 'is_corresponding': False, 'raw_author_name': 'A Buoninconti', 'raw_affiliation_strings': ['Department of Paediatrics, Federico II University, Napoli, Italy.'], 'affiliations': [{'raw_affiliation_string': 'Department of Paediatrics, Federico II University, Napoli, Italy.', 'institution_ids': ['https://openalex.org/I4210117450']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5031935586', 'display_name': 'Claudia Mandato', 'orcid': 'https://orcid.org/0000-0003-2425-5449'}, 'institutions': [{'id': 'https://openalex.org/I4210117450', 'display_name': 'Federico II University Hospital', 'ror': 'https://ror.org/02jr6tp70', 'country_code': 'IT', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210117450', 'https://openalex.org/I71267560']}], 'countries': ['IT'], 'is_corresponding': False, 'raw_author_name': 'C Mandato', 'raw_affiliation_strings': ['Department of Paediatrics, Federico II University, Napoli, Italy.'], 'affiliations': [{'raw_affiliation_string': 'Department of Paediatrics, Federico II University, Napoli, Italy.', 'institution_ids': ['https://openalex.org/I4210117450']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5016528606', 'display_name': 'Alessia Pepe', 'orcid': 'https://orcid.org/0000-0001-6401-3829'}, 'institutions': [{'id': 'https://openalex.org/I4210117450', 'display_name': 'Federico II University Hospital', 'ror': 'https://ror.org/02jr6tp70', 'country_code': 'IT', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210117450', 'https://openalex.org/I71267560']}], 'countries': ['IT'], 'is_corresponding': False, 'raw_author_name': 'A Pepe', 'raw_affiliation_strings': ['Department of Paediatrics, Federico II University, Napoli, Italy.'], 'affiliations': [{'raw_affiliation_string': 'Department of Paediatrics, Federico II University, Napoli, Italy.', 'institution_ids': ['https://openalex.org/I4210117450']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5011249729', 'display_name': 'Maria Pia Sperandeo', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I4210117450', 'display_name': 'Federico II University Hospital', 'ror': 'https://ror.org/02jr6tp70', 'country_code': 'IT', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210117450', 'https://openalex.org/I71267560']}], 'countries': ['IT'], 'is_corresponding': False, 'raw_author_name': 'M P Sperandeo', 'raw_affiliation_strings': ['Department of Paediatrics, Federico II University, Napoli, Italy.'], 'affiliations': [{'raw_affiliation_string': 'Department of Paediatrics, Federico II University, Napoli, Italy.', 'institution_ids': ['https://openalex.org/I4210117450']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5007036832', 'display_name': 'Roberto Del Gado', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I4210117450', 'display_name': 'Federico II University Hospital', 'ror': 'https://ror.org/02jr6tp70', 'country_code': 'IT', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210117450', 'https://openalex.org/I71267560']}], 'countries': ['IT'], 'is_corresponding': False, 'raw_author_name': 'R Del Gado', 'raw_affiliation_strings': ['Department of Paediatrics, Federico II University, Napoli, Italy.'], 'affiliations': [{'raw_affiliation_string': 'Department of Paediatrics, Federico II University, Napoli, Italy.', 'institution_ids': ['https://openalex.org/I4210117450']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5030682695', 'display_name': 'Valeria Capra', 'orcid': 'https://orcid.org/0000-0002-3097-0388'}, 'institutions': [{'id': 'https://openalex.org/I4210117450', 'display_name': 'Federico II University Hospital', 'ror': 'https://ror.org/02jr6tp70', 'country_code': 'IT', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210117450', 'https://openalex.org/I71267560']}], 'countries': ['IT'], 'is_corresponding': False, 'raw_author_name': 'V Capra', 'raw_affiliation_strings': ['Department of Paediatrics, Federico II University, Napoli, Italy.'], 'affiliations': [{'raw_affiliation_string': 'Department of Paediatrics, Federico II University, Napoli, Italy.', 'institution_ids': ['https://openalex.org/I4210117450']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5021013536', 'display_name': 'E Salvaggio', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I4210117450', 'display_name': 'Federico II University Hospital', 'ror': 'https://ror.org/02jr6tp70', 'country_code': 'IT', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210117450', 'https://openalex.org/I71267560']}], 'countries': ['IT'], 'is_corresponding': False, 'raw_author_name': 'E Salvaggio', 'raw_affiliation_strings': ['Department of Paediatrics, Federico II University, Napoli, Italy.'], 'affiliations': [{'raw_affiliation_string': 'Department of Paediatrics, Federico II University, Napoli, Italy.', 'institution_ids': ['https://openalex.org/I4210117450']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5039674178', 'display_name': 'Generoso Andria', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I4210117450', 'display_name': 'Federico II University Hospital', 'ror': 'https://ror.org/02jr6tp70', 'country_code': 'IT', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210117450', 'https://openalex.org/I71267560']}], 'countries': ['IT'], 'is_corresponding': False, 'raw_author_name': 'G Andria', 'raw_affiliation_strings': ['Department of Paediatrics, Federico II University, Napoli, Italy.'], 'affiliations': [{'raw_affiliation_string': 'Department of Paediatrics, Federico II University, Napoli, Italy.', 'institution_ids': ['https://openalex.org/I4210117450']}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5113831903', 'display_name': 'P Mastroiacovo', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I4210117450', 'display_name': 'Federico II University Hospital', 'ror': 'https://ror.org/02jr6tp70', 'country_code': 'IT', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210117450', 'https://openalex.org/I71267560']}], 'countries': ['IT'], 'is_corresponding': False, 'raw_author_name': 'P Mastroiacovo', 'raw_affiliation_strings': ['Department of Paediatrics, Federico II University, Napoli, Italy.'], 'affiliations': [{'raw_affiliation_string': 'Department of Paediatrics, Federico II University, Napoli, Italy.', 'institution_ids': ['https://openalex.org/I4210117450']}]}], 'institution_assertions': [], 'countries_distinct_count': 1, 'institutions_distinct_count': 1, 'corresponding_author_ids': [], 'corresponding_institution_ids': [], 'apc_list': None, 'apc_paid': None, 'fwci': 4.015, 'has_fulltext': True, 'fulltext_origin': 'ngrams', 'cited_by_count': 75, 'citation_normalized_percentile': {'value': 0.891058, 'is_in_top_1_percent': False, 'is_in_top_10_percent': False}, 'cited_by_percentile_year': {'min': 94, 'max': 95}, 'biblio': {'volume': '35', 'issue': '12', 'first_page': '1009', 'last_page': '1013'}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T10499', 'display_name': 'Folate and B Vitamins Research', 'score': 0.9944, 'subfield': {'id': 'https://openalex.org/subfields/2745', 'display_name': 'Rheumatology'}, '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/T10499', 'display_name': 'Folate and B Vitamins Research', 'score': 0.9944, 'subfield': {'id': 'https://openalex.org/subfields/2745', 'display_name': 'Rheumatology'}, '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/T12552', 'display_name': 'Fetal and Pediatric Neurological Disorders', 'score': 0.9285, 'subfield': {'id': 'https://openalex.org/subfields/2735', 'display_name': 'Pediatrics, Perinatology and Child Health'}, '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/T10978', 'display_name': 'Prenatal Screening and Diagnostics', 'score': 0.9276, 'subfield': {'id': 'https://openalex.org/subfields/2735', 'display_name': 'Pediatrics, Perinatology and Child Health'}, 'field': {'id': 'https://openalex.org/fields/27', 'display_name': 'Medicine'}, 'domain': {'id': 'https://openalex.org/domains/4', 'display_name': 'Health Sciences'}}], 'keywords': [], 'concepts': [{'id': 'https://openalex.org/C2778478650', 'wikidata': 'https://www.wikidata.org/wiki/Q844717', 'display_name': 'Spina bifida', 'level': 2, 'score': 0.95807165}, {'id': 'https://openalex.org/C156957248', 'wikidata': 'https://www.wikidata.org/wiki/Q1862216', 'display_name': 'Odds ratio', 'level': 2, 'score': 0.7441386}, {'id': 'https://openalex.org/C43563269', 'wikidata': 'https://www.wikidata.org/wiki/Q424709', 'display_name': 'Methylenetetrahydrofolate reductase', 'level': 4, 'score': 0.6295758}, {'id': 'https://openalex.org/C135763542', 'wikidata': 'https://www.wikidata.org/wiki/Q106016', 'display_name': 'Genotype', 'level': 3, 'score': 0.6115333}, {'id': 'https://openalex.org/C50440223', 'wikidata': 'https://www.wikidata.org/wiki/Q1475848', 'display_name': 'Risk factor', 'level': 2, 'score': 0.5969284}, {'id': 'https://openalex.org/C71924100', 'wikidata': 'https://www.wikidata.org/wiki/Q11190', 'display_name': 'Medicine', 'level': 0, 'score': 0.5930227}, {'id': 'https://openalex.org/C187212893', 'wikidata': 'https://www.wikidata.org/wiki/Q123028', 'display_name': 'Pediatrics', 'level': 1, 'score': 0.54593825}, {'id': 'https://openalex.org/C2779234561', 'wikidata': 'https://www.wikidata.org/wiki/Q11995', 'display_name': 'Pregnancy', 'level': 2, 'score': 0.43964702}, {'id': 'https://openalex.org/C131872663', 'wikidata': 'https://www.wikidata.org/wiki/Q5284418', 'display_name': 'Obstetrics', 'level': 1, 'score': 0.3803725}, {'id': 'https://openalex.org/C54355233', 'wikidata': 'https://www.wikidata.org/wiki/Q7162', 'display_name': 'Genetics', 'level': 1, 'score': 0.3159635}, {'id': 'https://openalex.org/C126322002', 'wikidata': 'https://www.wikidata.org/wiki/Q11180', 'display_name': 'Internal medicine', 'level': 1, 'score': 0.3037177}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.2452294}, {'id': 'https://openalex.org/C104317684', 'wikidata': 'https://www.wikidata.org/wiki/Q7187', 'display_name': 'Gene', 'level': 2, 'score': 0.102344304}], 'mesh': [{'descriptor_ui': 'D003545', 'descriptor_name': 'Cysteine', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D008754', 'descriptor_name': 'Methylenetetrahydrofolate Dehydrogenase (NADP)', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D017354', 'descriptor_name': 'Point Mutation', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D016135', 'descriptor_name': 'Spinal Dysraphism', 'qualifier_ui': 'Q000201', 'qualifier_name': 'enzymology', 'is_major_topic': True}, {'descriptor_ui': 'D016135', 'descriptor_name': 'Spinal Dysraphism', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D013912', 'descriptor_name': 'Threonine', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D045103', 'descriptor_name': '5,10-Methylenetetrahydrofolate Reductase (FADH2)', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D000328', 'descriptor_name': 'Adult', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D016022', 'descriptor_name': 'Case-Control Studies', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D002648', 'descriptor_name': 'Child', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D003545', 'descriptor_name': 'Cysteine', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D005838', 'descriptor_name': 'Genotype', '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': 'D007231', 'descriptor_name': 'Infant, Newborn', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D007558', 'descriptor_name': 'Italy', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D007558', 'descriptor_name': 'Italy', 'qualifier_ui': 'Q000453', 'qualifier_name': 'epidemiology', 'is_major_topic': False}, {'descriptor_ui': 'D015201', 'descriptor_name': 'Meta-Analysis as Topic', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D045102', 'descriptor_name': 'Methylenetetrahydrofolate Dehydrogenase (NAD+)', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D008754', 'descriptor_name': 'Methylenetetrahydrofolate Dehydrogenase (NADP)', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D042965', 'descriptor_name': 'Methylenetetrahydrofolate Reductase (NADPH2)', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D008875', 'descriptor_name': 'Middle Aged', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D010088', 'descriptor_name': 'Oxidoreductases', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D000587', 'descriptor_name': 'Oxidoreductases Acting on CH-NH Group Donors', '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': 'D012307', 'descriptor_name': 'Risk Factors', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D016135', 'descriptor_name': 'Spinal Dysraphism', 'qualifier_ui': 'Q000453', 'qualifier_name': 'epidemiology', 'is_major_topic': False}, {'descriptor_ui': 'D016135', 'descriptor_name': 'Spinal Dysraphism', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D013912', 'descriptor_name': 'Threonine', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}], 'locations_count': 4, 'locations': [{'is_oa': True, 'landing_page_url': 'https://doi.org/10.1136/jmg.35.12.1009', 'pdf_url': 'https://jmg.bmj.com/content/jmedgenet/35/12/1009.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/pmc1051513', 'pdf_url': 'https://europepmc.org/articles/pmc1051513?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/PMC1051513', '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/9863598', '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.35.12.1009', 'pdf_url': 'https://jmg.bmj.com/content/jmedgenet/35/12/1009.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': [], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 21, 'referenced_works': ['https://openalex.org/W1258952978', 'https://openalex.org/W1538773603', 'https://openalex.org/W1550382262', 'https://openalex.org/W1678102432', 'https://openalex.org/W1953501928', 'https://openalex.org/W1975442331', 'https://openalex.org/W1986984290', 'https://openalex.org/W1989790579', 'https://openalex.org/W2009637815', 'https://openalex.org/W2032984942', 'https://openalex.org/W2035815331', 'https://openalex.org/W2036493913', 'https://openalex.org/W2039569970', 'https://openalex.org/W2051136548', 'https://openalex.org/W2053975243', 'https://openalex.org/W2081306295', 'https://openalex.org/W2089786626', 'https://openalex.org/W2139158679', 'https://openalex.org/W2144062723', 'https://openalex.org/W2165715420', 'https://openalex.org/W2410662570'], 'related_works': ['https://openalex.org/W4322703218', 'https://openalex.org/W3110922012', 'https://openalex.org/W3088529301', 'https://openalex.org/W2400475437', 'https://openalex.org/W2357037093', 'https://openalex.org/W2137015088', 'https://openalex.org/W2094414422', 'https://openalex.org/W2062480975', 'https://openalex.org/W2042184438', 'https://openalex.org/W1546768578'], 'abstract_inverted_index': {'OBJECTIVE:': [0], 'To': [1], 'estimate': [2], 'the': [3, 10, 15, 82, 146, 160, 184, 192, 249], 'risk': [4, 168, 199, 224], 'for': [5, 95, 141, 171, 191], 'spina': [6, 38, 63, 96, 142, 215], 'bifida': [7, 39, 64, 97, 143], 'associated': [8, 144, 221], 'with': [9, 21, 37, 145, 222], 'common': [11], 'mutation': [12, 195], 'C677T': [13, 83, 194], 'of': [14, 26, 81, 91, 105, 132, 136, 214, 231], 'MTHFR': [16, 193], 'gene': [17], 'in': [18, 85, 116, 123, 201, 205, 243], 'a': [19, 22, 197, 210, 228], 'country': [20], 'relatively': [23, 211], 'low': [24, 212], 'prevalence': [25, 104, 213], 'NTDs.': [27], 'DESIGN:': [28], 'Case-control': [29], 'study.': [30], 'SUBJECTS:': [31], 'Cases:': [32, 61], '203': [33], 'living': [34], 'patients': [35, 173], 'affected': [36], '(173': [40], 'myelomeningocele': [41], 'and': [42, 51, 57, 87, 98, 108, 114, 118, 121, 159, 203, 248, 253], '30': [43], 'lipomeningocele);': [44], 'controls:': [45, 68, 72], '583': [46], 'subjects': [47], '(306': [48], 'young': [49, 66], 'adults': [50], '277': [52], 'unselected': [53], 'newborns)': [54], 'from': [55], 'northern': [56], 'central-southern': [58], 'Italy.': [59], 'SETTING:': [60], 'three': [62], 'centres;': [65], 'adult': [67], 'DNA': [69], 'banks;': [70], 'newborn': [71], 'regional': [73], 'neonatal': [74], 'screening': [75], 'centres.': [76], 'MAIN': [77], 'OUTCOME': [78], 'MEASURES:': [79], 'Prevalence': [80], 'genotypes': [84], 'cases': [86, 232], 'controls': [88, 117], 'by': [89, 234], 'place': [90, 135], 'birth;': [92], 'odds': [93, 139], 'ratios': [94], 'estimated': [99, 218], 'attributable': [100, 162, 219], 'fraction.': [101], 'RESULTS:': [102], 'The': [103, 138, 217], 'T/T,': [106], 'T/C,': [107], 'C/C': [109, 150], 'genotype': [110, 148], 'was': [111, 153, 164, 169], '16.6%,': [112], '53.7%,': [113], '29.7%': [115], '25.6%,': [119], '43.8%,': [120], '30.6%': [122], 'cases,': [124], 'respectively.': [125], 'We': [126], 'found': [127, 170], 'no': [128], 'differences': [129], 'between': [130, 251], 'type': [131], 'defect': [133], 'or': [134], 'birth.': [137], 'ratio': [140], 'T/T': [147], 'v': [149], 'plus': [151], 'T/C': [152], '1.73': [154], '(95%': [155], 'CI': [156, 176], '1.15,': [157], '2.59)': [158], 'corresponding': [161], 'fraction': [163, 220], '10.8%.': [165], 'No': [166], 'increased': [167], 'heterozygous': [172], '(OR=0.79,': [174], '95%': [175], '0.53-1.18).': [177], 'CONCLUSION:': [178], 'This': [179], 'study,': [180], 'as': [181, 183], 'well': [182], 'meta-analysis': [185], 'we': [186], 'updated,': [187], 'shows': [188], 'that': [189], 'homozygosity': [190], 'is': [196, 209], 'moderate': [198], 'factor': [200, 225], 'Europe,': [202], 'even': [204], 'Italy': [206], 'where': [207], 'there': [208], 'bifida.': [216], 'this': [223], 'explains': [226], 'only': [227], 'small': [229], 'proportion': [230], 'preventable': [233], 'periconceptional': [235], 'folic': [236], 'acid': [237], 'supplementation.': [238], 'Thus,': [239], 'other': [240], 'genes': [241], 'involved': [242], 'folate-homocysteine': [244], 'metabolism,': [245], 'their': [246], 'interaction,': [247], 'interaction': [250], 'genetic': [252], 'environmental': [254], 'factors': [255], 'should': [256], 'be': [257], 'investigated': [258], 'further.': [259]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W2153330367', 'counts_by_year': [{'year': 2024, 'cited_by_count': 1}, {'year': 2022, 'cited_by_count': 2}, {'year': 2021, 'cited_by_count': 1}, {'year': 2020, 'cited_by_count': 1}, {'year': 2016, 'cited_by_count': 1}, {'year': 2015, 'cited_by_count': 2}, {'year': 2014, 'cited_by_count': 1}, {'year': 2013, 'cited_by_count': 4}, {'year': 2012, 'cited_by_count': 2}], 'updated_date': '2024-12-10T05:01:18.742617', 'created_date': '2016-06-24'}