Publication Information

{'id': 'https://openalex.org/W1557918162', 'doi': 'https://doi.org/10.1385/0896033465', 'title': 'Molecular Diagnosis of Genetic Diseases', 'display_name': 'Molecular Diagnosis of Genetic Diseases', 'publication_year': 1996, 'publication_date': '1996-07-19', 'ids': {'openalex': 'https://openalex.org/W1557918162', 'doi': 'https://doi.org/10.1385/0896033465', 'mag': '1557918162'}, 'language': 'en', 'primary_location': {'is_oa': False, 'landing_page_url': 'https://doi.org/10.1385/0896033465', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S4306463399', 'display_name': 'Humana Press eBooks', 'issn_l': None, 'issn': None, 'is_oa': False, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/P4310315801', 'host_organization_name': 'Humana Press', 'host_organization_lineage': ['https://openalex.org/P4310315801'], 'host_organization_lineage_names': ['Humana Press'], 'type': 'ebook platform'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}, 'type': 'book', 'type_crossref': 'edited-book', 'indexed_in': ['crossref'], 'open_access': {'is_oa': True, 'oa_status': 'green', 'oa_url': 'https://link.springer.com/content/pdf/bfm:978-1-59259-432-0/1', 'any_repository_has_fulltext': True}, 'authorships': [{'author_position': 'first', 'author': {'id': 'https://openalex.org/A5111894535', 'display_name': 'Rob Elles', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I4210166773', 'display_name': "St. Mary's Hospital", 'ror': 'https://ror.org/05x8xdg58', 'country_code': 'GB', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210090003', 'https://openalex.org/I4210166773']}], 'countries': ['GB'], 'is_corresponding': True, 'raw_author_name': 'Rob Elles', 'raw_affiliation_strings': ["Regional Molecular Genetics Laboratory, St. Mary's Hospital, Manchester, UK"], 'affiliations': [{'raw_affiliation_string': "Regional Molecular Genetics Laboratory, St. Mary's Hospital, Manchester, UK", 'institution_ids': ['https://openalex.org/I4210166773']}]}], 'institution_assertions': [], 'countries_distinct_count': 1, 'institutions_distinct_count': 1, 'corresponding_author_ids': ['https://openalex.org/A5111894535'], 'corresponding_institution_ids': ['https://openalex.org/I4210166773'], 'apc_list': None, 'apc_paid': None, 'fwci': 1.02, 'has_fulltext': True, 'fulltext_origin': 'pdf', 'cited_by_count': 33, 'citation_normalized_percentile': {'value': 0.685185, 'is_in_top_1_percent': False, 'is_in_top_10_percent': False}, 'cited_by_percentile_year': {'min': 89, 'max': 90}, 'biblio': {'volume': None, 'issue': None, 'first_page': None, 'last_page': None}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T11642', 'display_name': 'Genomics and Rare Diseases', 'score': 0.9369, '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/T11642', 'display_name': 'Genomics and Rare Diseases', 'score': 0.9369, '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/T12400', 'display_name': 'Neurogenetic and Muscular Disorders Research', 'score': 0.9049, 'subfield': {'id': 'https://openalex.org/subfields/2716', 'display_name': 'Genetics'}, '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/C70721500', 'wikidata': 'https://www.wikidata.org/wiki/Q177005', 'display_name': 'Computational biology', 'level': 1, 'score': 0.43104547}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.37232846}, {'id': 'https://openalex.org/C54355233', 'wikidata': 'https://www.wikidata.org/wiki/Q7162', 'display_name': 'Genetics', 'level': 1, 'score': 0.3513528}, {'id': 'https://openalex.org/C71924100', 'wikidata': 'https://www.wikidata.org/wiki/Q11190', 'display_name': 'Medicine', 'level': 0, 'score': 0.3510642}], 'mesh': [], 'locations_count': 2, 'locations': [{'is_oa': False, 'landing_page_url': 'https://doi.org/10.1385/0896033465', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S4306463399', 'display_name': 'Humana Press eBooks', 'issn_l': None, 'issn': None, 'is_oa': False, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/P4310315801', 'host_organization_name': 'Humana Press', 'host_organization_lineage': ['https://openalex.org/P4310315801'], 'host_organization_lineage_names': ['Humana Press'], 'type': 'ebook platform'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}, {'is_oa': True, 'landing_page_url': 'https://doi.org/10.1385/1592594328', 'pdf_url': 'https://link.springer.com/content/pdf/bfm:978-1-59259-432-0/1', 'source': {'id': 'https://openalex.org/S4308707206', 'display_name': 'Library Union Catalog of Bavaria, Berlin and Brandenburg (B3Kat Repository)', 'issn_l': None, 'issn': None, 'is_oa': True, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I157725225', 'host_organization_name': 'University of Illinois Urbana-Champaign', 'host_organization_lineage': ['https://openalex.org/I157725225'], 'host_organization_lineage_names': ['University of Illinois Urbana-Champaign'], 'type': 'repository'}, 'license': 'other-oa', 'license_id': 'https://openalex.org/licenses/other-oa', 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}], 'best_oa_location': {'is_oa': True, 'landing_page_url': 'https://doi.org/10.1385/1592594328', 'pdf_url': 'https://link.springer.com/content/pdf/bfm:978-1-59259-432-0/1', 'source': {'id': 'https://openalex.org/S4308707206', 'display_name': 'Library Union Catalog of Bavaria, Berlin and Brandenburg (B3Kat Repository)', 'issn_l': None, 'issn': None, 'is_oa': True, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I157725225', 'host_organization_name': 'University of Illinois Urbana-Champaign', 'host_organization_lineage': ['https://openalex.org/I157725225'], 'host_organization_lineage_names': ['University of Illinois Urbana-Champaign'], 'type': 'repository'}, 'license': 'other-oa', 'license_id': 'https://openalex.org/licenses/other-oa', 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, 'sustainable_development_goals': [], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 0, 'referenced_works': [], 'related_works': ['https://openalex.org/W4389568370', 'https://openalex.org/W3108674512', 'https://openalex.org/W3032375762', 'https://openalex.org/W3031052312', 'https://openalex.org/W2748952813', 'https://openalex.org/W2586801360', 'https://openalex.org/W2080531066', 'https://openalex.org/W1995515455', 'https://openalex.org/W1506200166', 'https://openalex.org/W1489783725'], 'abstract_inverted_index': {'Optimizing': [0], 'PCR': [1], 'for': [2, 12, 20, 32, 46, 56], 'Clinical': [3, 34, 48, 58, 209], 'Diagnosis': [4], 'Michael': [5], 'P.': [6], 'Bulman': [7], 'Current': [8], 'and': [9, 26, 40, 73, 97, 116, 135, 148, 166, 171, 182, 201], 'Emerging': [10], 'Techniques': [11], 'Diagnostic': [13], 'Mutation': [14, 21, 30, 44, 54], 'Detection:': [15], 'An': [16], 'Overview': [17], 'of': [18, 103, 205], 'Methods': [19], 'Detection': [22, 102], 'Claire': [23], 'F.': [24, 38], 'Taylor': [25, 29], 'Graham': [27], 'R.': [28, 42], 'Scanning': [31, 45, 55], 'the': [33, 47, 57], 'Laboratory:': [35, 59], 'DHPLC': [36], 'John': [37, 84, 126], 'Harvey': [39], 'Julian': [41], 'Sampson': [43], 'Laboratory-Protein': [49], 'Truncation': [50], 'Test': [51], 'Yvonne': [52], 'Wallis': [53], 'Automated': [60], 'Fluorescent': [61], 'Sequencing': [62], 'Andrew': [63], 'J.': [64, 92, 177, 199], 'Wallace': [65], 'Comparative': [66], 'Sequence': [67], 'Analysis': [68, 78], 'Chris': [69], 'Mattocks,': [70], 'Patrick': [71], 'Tarpey,': [72], 'Jo': [74], 'Whittaker': [75], 'Gene': [76], 'Dosage': [77], 'by': [79, 106], 'Multiplex': [80], 'Amplifiable': [81], 'Probe': [82], 'Hybridization': [83], 'A.': [85, 89], 'L.': [86, 176, 198], 'Armour,': [87], 'Isa': [88], 'Rad,': [90], 'Ed': [91], 'Hollox,': [93], 'Seyed': [94], 'M.': [95, 127], 'Akrami,': [96], 'Gareth': [98], 'S.': [99], 'Cross': [100], 'Prenatal': [101], 'Chromosome': [104], 'Aneuploidy': [105], 'Quantitative': [107], 'Fluorescence-PCR': [108], 'Kathy': [109], 'Mann': [110], 'Fragile': [111], 'X': [112], 'Disease': [113, 120], 'Valerie': [114], 'Biancalana': [115], 'James': [117], 'Macpherson': [118], "Huntington's": [119], 'Linda': [121], 'Meredith': [122], 'Hematological': [123], 'Applications:': [124], 'Hemoglobinopathies': [125], 'Old': [128], 'Cystic': [129], 'Fibrosis': [130], 'Harry': [131], 'Cuppens,': [132], 'Elisabeth': [133], 'Dequeker,': [134], 'Jean-Jacques': [136], 'Cassiman': [137], 'Familial': [138, 157], 'Adenomatous': [139], 'Polyposis': [140], 'Fiona': [141], 'Macdonald': [142], 'Multiple': [143], 'Endocrine': [144], 'Neoplasia': [145], 'Types': [146], '1': [147], '2': [149], 'Sian': [150], 'Ellard': [151], 'Neurofibromatosis': [152], 'Type': [153], '1:': [154], 'A': [155], 'Common': [156], 'Cancer': [158], 'Syndrome': [159], 'Meena': [160], 'Upadhyaya,': [161], 'Peter': [162], 'Thompson,': [163], 'Song': [164], 'Han,': [165], 'David': [167], 'N.': [168], 'Cooper': [169], 'Duchenne': [170], 'Becker': [172], 'Muscular': [173, 186], 'Dystrophy': [174], 'Alexander': [175, 197], 'Kneppers,': [178, 200], 'Ieke': [179], 'B.': [180], 'Ginjaar,': [181], 'Egbert': [183], 'Bakker': [184], 'Spinal': [185], 'Atrophy': [187], 'Hans': [188], 'Scheffer': [189], 'Quality': [190], 'Management': [191], 'in': [192, 208], 'Molecular': [193], 'Genetics': [194], 'Els': [195], 'Voorhoeve,': [196], 'Simon': [202], 'Patton': [203], 'Regulation': [204], 'Genetic': [206], 'Testing': [207], 'Practice': [210], 'Ulf': [211], 'Kristoffersson': [212], 'Index': [213]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W1557918162', 'counts_by_year': [{'year': 2017, 'cited_by_count': 1}, {'year': 2013, 'cited_by_count': 1}], 'updated_date': '2024-12-09T12:06:29.998460', 'created_date': '2016-06-24'}