Publication Information

{'id': 'https://openalex.org/W2064747174', 'doi': 'https://doi.org/10.1086/302095', 'title': 'X Chromosome Inactivation in Carriers of Barth Syndrome', 'display_name': 'X Chromosome Inactivation in Carriers of Barth Syndrome', 'publication_year': 1998, 'publication_date': '1998-11-01', 'ids': {'openalex': 'https://openalex.org/W2064747174', 'doi': 'https://doi.org/10.1086/302095', 'mag': '2064747174', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/9792874', 'pmcid': 'https://www.ncbi.nlm.nih.gov/pmc/articles/1377557'}, 'language': 'en', 'primary_location': {'is_oa': True, 'landing_page_url': 'https://doi.org/10.1086/302095', 'pdf_url': 'http://www.cell.com/article/S000292970761578X/pdf', 'source': {'id': 'https://openalex.org/S134425043', 'display_name': 'The American Journal of Human Genetics', 'issn_l': '0002-9297', 'issn': ['0002-9297', '1537-6605'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320990', 'host_organization_name': 'Elsevier BV', 'host_organization_lineage': ['https://openalex.org/P4310320990'], 'host_organization_lineage_names': ['Elsevier BV'], 'type': 'journal'}, 'license': 'cc-by-nc-nd', 'license_id': 'https://openalex.org/licenses/cc-by-nc-nd', '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': 'hybrid', 'oa_url': 'http://www.cell.com/article/S000292970761578X/pdf', 'any_repository_has_fulltext': True}, 'authorships': [{'author_position': 'first', 'author': {'id': 'https://openalex.org/A5029946646', 'display_name': 'Karen Helene Ørstavik', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I1281400175', 'display_name': 'Oslo University Hospital', 'ror': 'https://ror.org/00j9c2840', 'country_code': 'NO', 'type': 'healthcare', 'lineage': ['https://openalex.org/I1281400175']}], 'countries': ['NO'], 'is_corresponding': False, 'raw_author_name': 'Karen Helene Ørstavik', 'raw_affiliation_strings': ['Department of Medical Genetics, Ullevål University Hospital, Oslo'], 'affiliations': [{'raw_affiliation_string': 'Department of Medical Genetics, Ullevål University Hospital, Oslo', 'institution_ids': ['https://openalex.org/I1281400175']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5002503034', 'display_name': 'Ragnhild Ørstavik', 'orcid': 'https://orcid.org/0000-0003-2640-3273'}, 'institutions': [{'id': 'https://openalex.org/I1281400175', 'display_name': 'Oslo University Hospital', 'ror': 'https://ror.org/00j9c2840', 'country_code': 'NO', 'type': 'healthcare', 'lineage': ['https://openalex.org/I1281400175']}], 'countries': ['NO'], 'is_corresponding': False, 'raw_author_name': 'Ragnhild E. Ørstavik', 'raw_affiliation_strings': ['Department of Medical Genetics, Ullevål University Hospital, Oslo'], 'affiliations': [{'raw_affiliation_string': 'Department of Medical Genetics, Ullevål University Hospital, Oslo', 'institution_ids': ['https://openalex.org/I1281400175']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5032254629', 'display_name': 'Anna K. Naumova', 'orcid': 'https://orcid.org/0000-0001-8481-5765'}, 'institutions': [{'id': 'https://openalex.org/I84392919', 'display_name': 'Temple University', 'ror': 'https://ror.org/00kx1jb78', 'country_code': 'US', 'type': 'education', 'lineage': ['https://openalex.org/I84392919']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Anna K. Naumova', 'raw_affiliation_strings': ['The Fels Institute of Cancer Research, Temple University, Philadelphia'], 'affiliations': [{'raw_affiliation_string': 'The Fels Institute of Cancer Research, Temple University, Philadelphia', 'institution_ids': ['https://openalex.org/I84392919']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5031274884', 'display_name': 'Patrizia D’Adamo', 'orcid': 'https://orcid.org/0000-0002-0312-5541'}, 'institutions': [{'id': 'https://openalex.org/I25217355', 'display_name': 'University of Pavia', 'ror': 'https://ror.org/00s6t1f81', 'country_code': 'IT', 'type': 'education', 'lineage': ['https://openalex.org/I25217355']}], 'countries': ['IT'], 'is_corresponding': False, 'raw_author_name': "Patrizia D'Adamo", 'raw_affiliation_strings': ['Istituto di Genetica, Biochimica ed Evoluzionistica, Pavia, Italy.'], 'affiliations': [{'raw_affiliation_string': 'Istituto di Genetica, Biochimica ed Evoluzionistica, Pavia, Italy.', 'institution_ids': ['https://openalex.org/I25217355']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5066595661', 'display_name': 'Ági K. Gedeon', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I2801308011', 'display_name': "Women's and Children's Hospital", 'ror': 'https://ror.org/03kwrfk72', 'country_code': 'AU', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2801308011']}], 'countries': ['AU'], 'is_corresponding': False, 'raw_author_name': 'Agi Gedeon', 'raw_affiliation_strings': ["Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, North Adelaide, Australia."], 'affiliations': [{'raw_affiliation_string': "Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, North Adelaide, Australia.", 'institution_ids': ['https://openalex.org/I2801308011']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5113549139', 'display_name': 'Pieter A. Bolhuis', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I887064364', 'display_name': 'University of Amsterdam', 'ror': 'https://ror.org/04dkp9463', 'country_code': 'NL', 'type': 'education', 'lineage': ['https://openalex.org/I887064364']}], 'countries': ['NL'], 'is_corresponding': False, 'raw_author_name': 'Pieter A. Bolhuis', 'raw_affiliation_strings': ['Department of Neurology, University of Amsterdam, Amsterdam'], 'affiliations': [{'raw_affiliation_string': 'Department of Neurology, University of Amsterdam, Amsterdam', 'institution_ids': ['https://openalex.org/I887064364']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5025943767', 'display_name': 'P. G. Barth', 'orcid': 'https://orcid.org/0000-0002-9025-5677'}, 'institutions': [{'id': 'https://openalex.org/I887064364', 'display_name': 'University of Amsterdam', 'ror': 'https://ror.org/04dkp9463', 'country_code': 'NL', 'type': 'education', 'lineage': ['https://openalex.org/I887064364']}], 'countries': ['NL'], 'is_corresponding': False, 'raw_author_name': 'Peter G. Barth', 'raw_affiliation_strings': ['Department of Pediatrics, University of Amsterdam, Amsterdam'], 'affiliations': [{'raw_affiliation_string': 'Department of Pediatrics, University of Amsterdam, Amsterdam', 'institution_ids': ['https://openalex.org/I887064364']}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5048435323', 'display_name': 'Daniela Toniolo', 'orcid': 'https://orcid.org/0000-0001-9545-6032'}, 'institutions': [{'id': 'https://openalex.org/I25217355', 'display_name': 'University of Pavia', 'ror': 'https://ror.org/00s6t1f81', 'country_code': 'IT', 'type': 'education', 'lineage': ['https://openalex.org/I25217355']}], 'countries': ['IT'], 'is_corresponding': False, 'raw_author_name': 'Daniela Toniolo', 'raw_affiliation_strings': ['Istituto di Genetica, Biochimica ed Evoluzionistica, Pavia, Italy.'], 'affiliations': [{'raw_affiliation_string': 'Istituto di Genetica, Biochimica ed Evoluzionistica, Pavia, Italy.', 'institution_ids': ['https://openalex.org/I25217355']}]}], 'institution_assertions': [], 'countries_distinct_count': 5, 'institutions_distinct_count': 5, 'corresponding_author_ids': [], 'corresponding_institution_ids': [], 'apc_list': {'value': 5150, 'currency': 'USD', 'value_usd': 5150, 'provenance': 'doaj'}, 'apc_paid': {'value': 5150, 'currency': 'USD', 'value_usd': 5150, 'provenance': 'doaj'}, 'fwci': 3.232, 'has_fulltext': True, 'fulltext_origin': 'ngrams', 'cited_by_count': 74, 'citation_normalized_percentile': {'value': 0.912041, 'is_in_top_1_percent': False, 'is_in_top_10_percent': True}, 'cited_by_percentile_year': {'min': 94, 'max': 95}, 'biblio': {'volume': '63', 'issue': '5', 'first_page': '1457', 'last_page': '1463'}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T11772', 'display_name': 'Genetics and Neurodevelopmental Disorders', 'score': 0.9999, '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': 'Genetics and Neurodevelopmental Disorders', 'score': 0.9999, '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/T11482', 'display_name': 'RNA modifications and cancer', 'score': 0.9969, 'subfield': {'id': 'https://openalex.org/subfields/1312', 'display_name': 'Molecular Biology'}, 'field': {'id': 'https://openalex.org/fields/13', 'display_name': 'Biochemistry, Genetics and Molecular Biology'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}, {'id': 'https://openalex.org/T10521', 'display_name': 'RNA and protein synthesis mechanisms', 'score': 0.9954, 'subfield': {'id': 'https://openalex.org/subfields/1312', 'display_name': 'Molecular Biology'}, 'field': {'id': 'https://openalex.org/fields/13', 'display_name': 'Biochemistry, Genetics and Molecular Biology'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}], 'keywords': [{'id': 'https://openalex.org/keywords/skewed-x-inactivation', 'display_name': 'Skewed X-inactivation', 'score': 0.78318727}], 'concepts': [{'id': 'https://openalex.org/C2590687', 'wikidata': 'https://www.wikidata.org/wiki/Q7534814', 'display_name': 'Skewed X-inactivation', 'level': 5, 'score': 0.78318727}, {'id': 'https://openalex.org/C84597430', 'wikidata': 'https://www.wikidata.org/wiki/Q106227', 'display_name': 'Locus (genetics)', 'level': 3, 'score': 0.7179531}, {'id': 'https://openalex.org/C35158069', 'wikidata': 'https://www.wikidata.org/wiki/Q61333', 'display_name': 'X chromosome', 'level': 3, 'score': 0.70147884}, {'id': 'https://openalex.org/C4323932', 'wikidata': 'https://www.wikidata.org/wiki/Q898914', 'display_name': 'X-inactivation', 'level': 4, 'score': 0.69259286}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.67306453}, {'id': 'https://openalex.org/C54355233', 'wikidata': 'https://www.wikidata.org/wiki/Q7162', 'display_name': 'Genetics', 'level': 1, 'score': 0.6701071}, {'id': 'https://openalex.org/C180754005', 'wikidata': 'https://www.wikidata.org/wiki/Q80726', 'display_name': 'Allele', 'level': 3, 'score': 0.5529459}, {'id': 'https://openalex.org/C104317684', 'wikidata': 'https://www.wikidata.org/wiki/Q7187', 'display_name': 'Gene', 'level': 2, 'score': 0.4133384}, {'id': 'https://openalex.org/C153911025', 'wikidata': 'https://www.wikidata.org/wiki/Q7202', 'display_name': 'Molecular biology', 'level': 1, 'score': 0.34096634}], 'mesh': [{'descriptor_ui': 'D009202', 'descriptor_name': 'Cardiomyopathies', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D006580', 'descriptor_name': 'Genetic Carrier Screening', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D006130', 'descriptor_name': 'Growth Disorders', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D009135', 'descriptor_name': 'Muscular Diseases', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D020125', 'descriptor_name': 'Mutation, Missense', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D009419', 'descriptor_name': 'Nerve Tissue Proteins', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D009503', 'descriptor_name': 'Neutropenia', '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': 'D012729', 'descriptor_name': 'Sex Chromosome Aberrations', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D014960', 'descriptor_name': 'X Chromosome', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D000293', 'descriptor_name': 'Adolescent', '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': 'D000368', 'descriptor_name': 'Aged', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D001827', 'descriptor_name': 'Body Height', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D009202', 'descriptor_name': 'Cardiomyopathies', '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': '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': 'D051860', 'descriptor_name': 'Fragile X Mental Retardation Protein', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D005808', 'descriptor_name': 'Genes, Recessive', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D006130', 'descriptor_name': 'Growth Disorders', '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': 'D008875', 'descriptor_name': 'Middle Aged', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D009135', 'descriptor_name': 'Muscular Diseases', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D009419', 'descriptor_name': 'Nerve Tissue Proteins', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D009503', 'descriptor_name': 'Neutropenia', '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': 'D010641', 'descriptor_name': 'Phenotype', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D016601', 'descriptor_name': 'RNA-Binding Proteins', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D016601', 'descriptor_name': 'RNA-Binding Proteins', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D013577', 'descriptor_name': 'Syndrome', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}], 'locations_count': 5, 'locations': [{'is_oa': True, 'landing_page_url': 'https://doi.org/10.1086/302095', 'pdf_url': 'http://www.cell.com/article/S000292970761578X/pdf', 'source': {'id': 'https://openalex.org/S134425043', 'display_name': 'The American Journal of Human Genetics', 'issn_l': '0002-9297', 'issn': ['0002-9297', '1537-6605'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320990', 'host_organization_name': 'Elsevier BV', 'host_organization_lineage': ['https://openalex.org/P4310320990'], 'host_organization_lineage_names': ['Elsevier BV'], 'type': 'journal'}, 'license': 'cc-by-nc-nd', 'license_id': 'https://openalex.org/licenses/cc-by-nc-nd', 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, {'is_oa': True, 'landing_page_url': 'https://europepmc.org/articles/pmc1377557', 'pdf_url': 'https://europepmc.org/articles/pmc1377557?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': 'cc-by-nc-nd', 'license_id': 'https://openalex.org/licenses/cc-by-nc-nd', 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, {'is_oa': True, 'landing_page_url': 'http://dare.uva.nl/personal/pure/en/publications/x-chromosome-inactivation-in-carriers-of-barth-syndrome(03f20f2a-7c93-455b-9164-5149bce25bc7).html', 'pdf_url': 'https://pure.uva.nl/ws/files/3346982/42785_200982y.pdf', 'source': {'id': 'https://openalex.org/S4306401571', 'display_name': 'Wiardi Beckman Foundation (Wiardi Beckman Foundation)', 'issn_l': None, 'issn': None, 'is_oa': True, 'is_in_doaj': False, 'is_core': False, 'host_organization': None, 'host_organization_name': None, 'host_organization_lineage': [], 'host_organization_lineage_names': [], '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/PMC1377557', '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': 'acceptedVersion', 'is_accepted': True, 'is_published': False}, {'is_oa': False, 'landing_page_url': 'https://pubmed.ncbi.nlm.nih.gov/9792874', '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/10.1086/302095', 'pdf_url': 'http://www.cell.com/article/S000292970761578X/pdf', 'source': {'id': 'https://openalex.org/S134425043', 'display_name': 'The American Journal of Human Genetics', 'issn_l': '0002-9297', 'issn': ['0002-9297', '1537-6605'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320990', 'host_organization_name': 'Elsevier BV', 'host_organization_lineage': ['https://openalex.org/P4310320990'], 'host_organization_lineage_names': ['Elsevier BV'], 'type': 'journal'}, 'license': 'cc-by-nc-nd', 'license_id': 'https://openalex.org/licenses/cc-by-nc-nd', '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': 0.57}], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 30, 'referenced_works': ['https://openalex.org/W113984154', 'https://openalex.org/W1223657865', 'https://openalex.org/W122645344', 'https://openalex.org/W1492806079', 'https://openalex.org/W1532105128', 'https://openalex.org/W178899701', 'https://openalex.org/W1939399808', 'https://openalex.org/W1974145389', 'https://openalex.org/W1986382985', 'https://openalex.org/W2017916380', 'https://openalex.org/W2018660197', 'https://openalex.org/W2022221016', 'https://openalex.org/W2024335891', 'https://openalex.org/W2029146706', 'https://openalex.org/W2041982853', 'https://openalex.org/W2051576043', 'https://openalex.org/W2053152186', 'https://openalex.org/W2057175927', 'https://openalex.org/W2072367160', 'https://openalex.org/W2081996533', 'https://openalex.org/W2087277753', 'https://openalex.org/W2089571684', 'https://openalex.org/W2093533550', 'https://openalex.org/W2111972637', 'https://openalex.org/W2143788471', 'https://openalex.org/W2167119720', 'https://openalex.org/W2171013289', 'https://openalex.org/W2418072786', 'https://openalex.org/W344623791', 'https://openalex.org/W4242239767'], 'related_works': ['https://openalex.org/W3135185578', 'https://openalex.org/W2623449671', 'https://openalex.org/W2152439359', 'https://openalex.org/W2066072173', 'https://openalex.org/W2063863648', 'https://openalex.org/W2057739827', 'https://openalex.org/W2026978013', 'https://openalex.org/W1995604642', 'https://openalex.org/W1967520132', 'https://openalex.org/W1512286805'], 'abstract_inverted_index': {'Barth': [0], 'syndrome': [1], '(BTHS)': [2], 'is': [3, 213], 'a': [4, 69, 143, 147, 164, 199, 218], 'rare': [5], 'X-linked': [6], 'recessive': [7], 'disorder': [8], 'characterized': [9], 'by': [10], 'cardiac': [11], 'and': [12, 16, 27, 48, 196], 'skeletal': [13], 'myopathy,': [14], 'neutropenia,': [15], 'short': [17], 'stature.': [18], 'A': [19], 'gene': [20, 225], 'for': [21, 181], 'BTHS,': [22, 94], 'G4.5,': [23], 'was': [24, 116, 130, 150, 175], 'recently': [25], 'cloned': [26], 'encodes': [28], 'several': [29], 'novel': [30], 'proteins,': [31], 'named': [32], '"tafazzins."': [33], 'Unique': [34], 'mutations': [35], 'have': [36, 74], 'been': [37, 54], 'found.': [38, 55, 203], 'No': [39], 'correlation': [40], 'between': [41], 'the': [42, 49, 75, 79, 101, 160, 167, 171, 215, 223, 227, 246, 249, 256], 'location': [43], 'or': [44], 'type': [45], 'of': [46, 51, 58, 93, 155, 170, 210, 217, 248], 'mutation': [47], 'phenotype': [50], 'BTHS': [52, 59, 232], 'has': [53], 'Female': [56], 'carriers': [57, 92, 126, 138, 162, 190, 197, 212], 'seem': [60], 'to': [61, 68, 244], 'be': [62, 66, 185], 'healthy.': [63], 'This': [64], 'could': [65, 184], 'due': [67], 'selection': [70, 219, 257], 'against': [71, 220], 'cells': [72, 221], 'that': [73, 149], 'mutant': [76], 'allele': [77], 'on': [78, 226], 'active': [80, 228], 'X': [81, 86, 173, 206, 229], 'chromosome.': [82, 230], 'We': [83], 'therefore': [84], 'analyzed': [85], 'chromosome': [87, 174], 'inactivation': [88, 207], 'in': [89, 100, 112, 118, 124, 132, 152, 177, 208, 259], '16': [90, 211], 'obligate': [91], 'from': [95, 127, 134, 139], 'six': [96, 119], 'families,': [97, 189, 239], 'using': [98], 'PCR': [99], 'androgen-receptor': [102], 'locus.': [103], 'An': [104], 'extremely': [105, 193], 'skewed': [106, 122, 144, 165, 194, 205], 'X-inactivation': [107], 'pattern': [108, 123, 145, 148, 195, 201], '(>=95:5),': [109], 'not': [110], 'found': [111, 117, 151], '148': [113, 156], 'female': [114, 157], 'controls,': [115], 'carriers.': [120, 260], 'The': [121, 204], 'two': [125, 140, 188], 'one': [128], 'family': [129], 'confirmed': [131], 'DNA': [133], 'cultured': [135], 'fibroblasts.': [136], 'Five': [137], 'families': [141], 'had': [142], '(80:20-<95:5),': [146], 'only': [153], '11': [154, 161, 209], 'controls.': [158], 'Of': [159], 'with': [163, 191, 198, 222], 'pattern,': [166], 'parental': [168], 'origin': [169], 'inactive': [172], 'maternal': [176], 'all': [178], 'seven': [179], 'cases': [180], 'which': [182], 'this': [183], 'determined.': [186], 'In': [187], 'an': [192], 'random': [200], 'were': [202], 'probably': [214], 'result': [216], 'mutated': [224], 'Since': [231], 'also': [233, 254], 'shows': [234], 'great': [235], 'clinical': [236], 'variation': [237], 'within': [238], 'additional': [240], 'factors': [241, 252], 'are': [242], 'likely': [243], 'influence': [245, 255], 'expression': [247], 'phenotype.': [250], 'Such': [251], 'may': [253], 'mechanism': [258]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W2064747174', 'counts_by_year': [{'year': 2023, 'cited_by_count': 2}, {'year': 2021, 'cited_by_count': 3}, {'year': 2020, 'cited_by_count': 2}, {'year': 2019, 'cited_by_count': 3}, {'year': 2018, 'cited_by_count': 1}, {'year': 2017, 'cited_by_count': 2}, {'year': 2016, 'cited_by_count': 1}, {'year': 2015, 'cited_by_count': 3}, {'year': 2014, 'cited_by_count': 2}, {'year': 2013, 'cited_by_count': 4}, {'year': 2012, 'cited_by_count': 2}], 'updated_date': '2024-12-16T09:20:27.744435', 'created_date': '2016-06-24'}