Get quick answers to your questions about the article from our AI researcher chatbot
{'id': 'https://openalex.org/W1994454263', 'doi': 'https://doi.org/10.1002/(sici)1098-1004(1997)9:1<53::aid-humu9>3.0.co;2-q', 'title': 'Two new mutations in exon 3 of theNDP gene: S73X and S101F associated with severe and less severe ocular phenotype, respectively', 'display_name': 'Two new mutations in exon 3 of theNDP gene: S73X and S101F associated with severe and less severe ocular phenotype, respectively', 'publication_year': 1997, 'publication_date': '1997-01-01', 'ids': {'openalex': 'https://openalex.org/W1994454263', 'doi': 'https://doi.org/10.1002/(sici)1098-1004(1997)9:1<53::aid-humu9>3.0.co;2-q', 'mag': '1994454263', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/8990009'}, 'language': 'en', 'primary_location': {'is_oa': True, 'landing_page_url': 'https://doi.org/10.1002/(sici)1098-1004(1997)9:1<53::aid-humu9>3.0.co;2-q', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S98809561', 'display_name': 'Human Mutation', 'issn_l': '1059-7794', 'issn': ['1059-7794', '1098-1004'], 'is_oa': True, 'is_in_doaj': False, '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': 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': 'gold', 'oa_url': 'https://doi.org/10.1002/(sici)1098-1004(1997)9:1<53::aid-humu9>3.0.co;2-q', 'any_repository_has_fulltext': False}, 'authorships': [{'author_position': 'first', 'author': {'id': 'https://openalex.org/A5103154997', 'display_name': 'Jennifer L. Walker', 'orcid': 'https://orcid.org/0000-0003-1220-1574'}, 'institutions': [{'id': 'https://openalex.org/I40120149', 'display_name': 'University of Oxford', 'ror': 'https://ror.org/052gg0110', 'country_code': 'GB', 'type': 'education', 'lineage': ['https://openalex.org/I40120149']}], 'countries': ['GB'], 'is_corresponding': False, 'raw_author_name': 'Jennifer L. Walker', 'raw_affiliation_strings': ['Genetics Laboratory, Department of Biochemistry, University of Oxford, Oxford, OXI 3QU, UK'], 'affiliations': [{'raw_affiliation_string': 'Genetics Laboratory, Department of Biochemistry, University of Oxford, Oxford, OXI 3QU, UK', 'institution_ids': ['https://openalex.org/I40120149']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5037382759', 'display_name': 'Joanne Dixon', 'orcid': 'https://orcid.org/0000-0002-5648-680X'}, 'institutions': [{'id': 'https://openalex.org/I2801129757', 'display_name': 'Wellington Hospital', 'ror': 'https://ror.org/007n45g27', 'country_code': 'NZ', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2801129757', 'https://openalex.org/I4210125275']}], 'countries': ['NZ'], 'is_corresponding': False, 'raw_author_name': 'Joanne Dixon', 'raw_affiliation_strings': ['Cytogenetics Laboratory, Wellington Hospital, Private Bag 7902, Wellington South, New Zealand'], 'affiliations': [{'raw_affiliation_string': 'Cytogenetics Laboratory, Wellington Hospital, Private Bag 7902, Wellington South, New Zealand', 'institution_ids': ['https://openalex.org/I2801129757']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5057837340', 'display_name': 'Colin R. Fenton', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I4210102886', 'display_name': 'Hutt Hospital', 'ror': 'https://ror.org/01cgbsh11', 'country_code': 'NZ', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210102886']}], 'countries': ['NZ'], 'is_corresponding': False, 'raw_author_name': 'Colin R. Fenton', 'raw_affiliation_strings': ['Ropata Medical Centre, Lower Hutt, New Zealand'], 'affiliations': [{'raw_affiliation_string': 'Ropata Medical Centre, Lower Hutt, New Zealand', 'institution_ids': ['https://openalex.org/I4210102886']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5111900141', 'display_name': 'John L. Hungerford', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I1307195382', 'display_name': "St Bartholomew's Hospital", 'ror': 'https://ror.org/00nh9x179', 'country_code': 'GB', 'type': 'healthcare', 'lineage': ['https://openalex.org/I1307195382', 'https://openalex.org/I225661044']}], 'countries': ['GB'], 'is_corresponding': False, 'raw_author_name': 'John Hungerford', 'raw_affiliation_strings': ["Department of Ophthalmology, St. Bartholomew's Hospital, West Smithfield, London, ECIA 7BE, UK", 'Fax: 44-1865-275318'], 'affiliations': [{'raw_affiliation_string': "Department of Ophthalmology, St. Bartholomew's Hospital, West Smithfield, London, ECIA 7BE, UK", 'institution_ids': ['https://openalex.org/I1307195382']}, {'raw_affiliation_string': 'Fax: 44-1865-275318', 'institution_ids': []}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5082143264', 'display_name': 'Sally Ann Lynch', 'orcid': 'https://orcid.org/0000-0003-3540-1333'}, 'institutions': [{'id': 'https://openalex.org/I2800516725', 'display_name': 'Royal Victoria Infirmary', 'ror': 'https://ror.org/01p19k166', 'country_code': 'GB', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2800516725', 'https://openalex.org/I2801663869']}], 'countries': ['GB'], 'is_corresponding': False, 'raw_author_name': 'Sally A. Lynch', 'raw_affiliation_strings': ['Northern Region Genetics Service, Royal Victoria Infirmary, 19, Newcastle upon Tyne, NE2 4AA, UK'], 'affiliations': [{'raw_affiliation_string': 'Northern Region Genetics Service, Royal Victoria Infirmary, 19, Newcastle upon Tyne, NE2 4AA, UK', 'institution_ids': ['https://openalex.org/I2800516725']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5068061339', 'display_name': 'Susan A. R. Stenhouses', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I2800516725', 'display_name': 'Royal Victoria Infirmary', 'ror': 'https://ror.org/01p19k166', 'country_code': 'GB', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2800516725', 'https://openalex.org/I2801663869']}], 'countries': ['GB'], 'is_corresponding': False, 'raw_author_name': 'Susan A. R. Stenhouses', 'raw_affiliation_strings': ['Northern Region Genetics Service, Royal Victoria Infirmary, 19, Newcastle upon Tyne, NE2 4AA, UK'], 'affiliations': [{'raw_affiliation_string': 'Northern Region Genetics Service, Royal Victoria Infirmary, 19, Newcastle upon Tyne, NE2 4AA, UK', 'institution_ids': ['https://openalex.org/I2800516725']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5013526131', 'display_name': 'Christian Aimé Kayath', 'orcid': 'https://orcid.org/0000-0002-4075-4726'}, 'institutions': [{'id': 'https://openalex.org/I2801129757', 'display_name': 'Wellington Hospital', 'ror': 'https://ror.org/007n45g27', 'country_code': 'NZ', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2801129757', 'https://openalex.org/I4210125275']}], 'countries': ['NZ'], 'is_corresponding': False, 'raw_author_name': 'A Christian', 'raw_affiliation_strings': ['Cytogenetics Laboratory, Wellington Hospital, Private Bag 7902, Wellington South, New Zealand'], 'affiliations': [{'raw_affiliation_string': 'Cytogenetics Laboratory, Wellington Hospital, Private Bag 7902, Wellington South, New Zealand', 'institution_ids': ['https://openalex.org/I2801129757']}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5043641502', 'display_name': 'Ian Craig', 'orcid': 'https://orcid.org/0000-0002-4063-1005'}, 'institutions': [{'id': 'https://openalex.org/I40120149', 'display_name': 'University of Oxford', 'ror': 'https://ror.org/052gg0110', 'country_code': 'GB', 'type': 'education', 'lineage': ['https://openalex.org/I40120149']}], 'countries': ['GB'], 'is_corresponding': True, 'raw_author_name': 'Ian W. Craig', 'raw_affiliation_strings': ['Genetics Laboratory, Department of Biochemistry, University of Oxford, Oxford, OXI 3QU, UK'], 'affiliations': [{'raw_affiliation_string': 'Genetics Laboratory, Department of Biochemistry, University of Oxford, Oxford, OXI 3QU, UK', 'institution_ids': ['https://openalex.org/I40120149']}]}], 'institution_assertions': [], 'countries_distinct_count': 2, 'institutions_distinct_count': 5, 'corresponding_author_ids': ['https://openalex.org/A5043641502'], 'corresponding_institution_ids': ['https://openalex.org/I40120149'], 'apc_list': {'value': 2300, 'currency': 'USD', 'value_usd': 2300, 'provenance': 'doaj'}, 'apc_paid': {'value': 2300, 'currency': 'USD', 'value_usd': 2300, 'provenance': 'doaj'}, 'fwci': 0.239, 'has_fulltext': True, 'fulltext_origin': 'ngrams', 'cited_by_count': 9, 'citation_normalized_percentile': {'value': 0.522924, 'is_in_top_1_percent': False, 'is_in_top_10_percent': False}, 'cited_by_percentile_year': {'min': 77, 'max': 78}, 'biblio': {'volume': '9', 'issue': '1', 'first_page': '53', 'last_page': '56'}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T11480', 'display_name': 'Connexins and lens biology', 'score': 0.9905, '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'}}, 'topics': [{'id': 'https://openalex.org/T11480', 'display_name': 'Connexins and lens biology', 'score': 0.9905, '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/T12989', 'display_name': 'Ocular Disorders and Treatments', 'score': 0.9888, '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/T12287', 'display_name': 'Fibroblast Growth Factor Research', 'score': 0.9838, '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': [], 'concepts': [{'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.93378687}, {'id': 'https://openalex.org/C127716648', 'wikidata': 'https://www.wikidata.org/wiki/Q104053', 'display_name': 'Phenotype', 'level': 3, 'score': 0.8218195}, {'id': 'https://openalex.org/C36823959', 'wikidata': 'https://www.wikidata.org/wiki/Q373027', 'display_name': 'Exon', 'level': 3, 'score': 0.77734315}, {'id': 'https://openalex.org/C54355233', 'wikidata': 'https://www.wikidata.org/wiki/Q7162', 'display_name': 'Genetics', 'level': 1, 'score': 0.69652545}, {'id': 'https://openalex.org/C104317684', 'wikidata': 'https://www.wikidata.org/wiki/Q7187', 'display_name': 'Gene', 'level': 2, 'score': 0.61622834}, {'id': 'https://openalex.org/C501734568', 'wikidata': 'https://www.wikidata.org/wiki/Q42918', 'display_name': 'Mutation', 'level': 3, 'score': 0.48080364}], 'mesh': [{'descriptor_ui': 'D005091', 'descriptor_name': 'Exons', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D005124', 'descriptor_name': 'Eye Abnormalities', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D005136', 'descriptor_name': 'Eye Proteins', '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': 'D009419', 'descriptor_name': 'Nerve Tissue Proteins', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D001766', 'descriptor_name': 'Blindness', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D001766', 'descriptor_name': 'Blindness', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D005124', 'descriptor_name': 'Eye Abnormalities', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D005136', 'descriptor_name': 'Eye Proteins', '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': 'D006801', 'descriptor_name': 'Humans', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D007223', 'descriptor_name': 'Infant', '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': 'D009419', 'descriptor_name': 'Nerve Tissue Proteins', '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}], 'locations_count': 2, 'locations': [{'is_oa': True, 'landing_page_url': 'https://doi.org/10.1002/(sici)1098-1004(1997)9:1<53::aid-humu9>3.0.co;2-q', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S98809561', 'display_name': 'Human Mutation', 'issn_l': '1059-7794', 'issn': ['1059-7794', '1098-1004'], 'is_oa': True, 'is_in_doaj': False, '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': None, 'license_id': None, 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, {'is_oa': False, 'landing_page_url': 'https://pubmed.ncbi.nlm.nih.gov/8990009', '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/(sici)1098-1004(1997)9:1<53::aid-humu9>3.0.co;2-q', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S98809561', 'display_name': 'Human Mutation', 'issn_l': '1059-7794', 'issn': ['1059-7794', '1098-1004'], 'is_oa': True, 'is_in_doaj': False, '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': None, 'license_id': None, 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, 'sustainable_development_goals': [], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 20, 'referenced_works': ['https://openalex.org/W1931330302', 'https://openalex.org/W1983268153', 'https://openalex.org/W1988362237', 'https://openalex.org/W1996027687', 'https://openalex.org/W2007363579', 'https://openalex.org/W2010257109', 'https://openalex.org/W2010541063', 'https://openalex.org/W2022887664', 'https://openalex.org/W2036348617', 'https://openalex.org/W2040995502', 'https://openalex.org/W2044322648', 'https://openalex.org/W2046194964', 'https://openalex.org/W2052742602', 'https://openalex.org/W2059275042', 'https://openalex.org/W2066094294', 'https://openalex.org/W2068776261', 'https://openalex.org/W2075089097', 'https://openalex.org/W2078458577', 'https://openalex.org/W2083873648', 'https://openalex.org/W4256511845'], 'related_works': ['https://openalex.org/W3097153535', 'https://openalex.org/W2951456844', 'https://openalex.org/W2388007221', 'https://openalex.org/W2352780564', 'https://openalex.org/W2146849562', 'https://openalex.org/W2060169551', 'https://openalex.org/W2049803706', 'https://openalex.org/W2034625591', 'https://openalex.org/W2028961943', 'https://openalex.org/W1964168685'], 'abstract_inverted_index': {'Human': [0], 'MutationVolume': [1], '9,': [2], 'Issue': [3], '1': [4], 'p.': [5], '53-56': [6, 1158], 'Mutations': [7, 563], 'in': [8, 13, 564, 686, 717, 785, 818, 823, 889, 894, 921, 991, 995, 1052, 1123, 1144], 'Brief': [9], 'Two': [10], 'new': [11], 'mutations': [12, 814, 990, 1074], 'exon': [14], '3': [15], 'of': [16, 41, 44, 98, 199, 202, 210, 213, 234, 237, 291, 392, 395, 403, 406, 444, 454, 467, 478, 524, 626, 658, 679, 780, 811, 847, 969, 1002, 1028, 1050, 1072, 1111, 1118, 1139], 'the': [17, 460, 470, 565, 683, 718, 781, 819, 848, 886, 890, 922, 992, 1029, 1079, 1119, 1140], 'NDP': [18, 684, 993], 'gene:': [19], 'S73X': [20], 'and': [21, 26, 442, 446, 458, 465, 484, 600, 624, 660, 750, 816, 1069, 1075], 'S101F': [22], 'associated': [23, 723, 916], 'with': [24, 481, 689, 724, 790, 917, 997], 'severe': [25, 28, 1000], 'less': [27, 999], 'ocular': [29], 'phenotype,': [30], 'respectively': [31], 'Jennifer': [32, 35, 225, 228], 'L.': [33, 36, 226, 229], 'Walker,': [34, 227], 'Walker': [37, 230], 'Genetics': [38, 124, 151, 196, 231, 317, 344, 389], 'Laboratory,': [39, 60, 173, 197, 208, 232, 253, 366, 390, 401], 'Department': [40, 97, 198, 209, 233, 290, 391, 402], 'Biochemistry,': [42, 200, 211, 235, 393, 404], 'University': [43, 201, 212, 236, 394, 405], 'Oxford,': [45, 46, 203, 204, 214, 215, 238, 239, 396, 397, 407, 408], 'OXI': [47, 205, 216, 240, 398, 409], '3QU,': [48, 206, 217, 241, 399, 410], 'UKSearch': [49, 135, 162, 218, 242, 328, 355, 411], 'for': [50, 70, 88, 111, 136, 163, 183, 219, 243, 263, 281, 304, 329, 356, 376, 412, 528, 568, 630], 'more': [51, 71, 89, 112, 137, 164, 184, 220, 244, 264, 282, 305, 330, 357, 377, 413], 'papers': [52, 72, 90, 113, 138, 165, 185, 221, 245, 265, 283, 306, 331, 358, 378, 414], 'by': [53, 73, 91, 114, 139, 166, 186, 222, 246, 266, 284, 307, 332, 359, 379, 415, 531, 593, 857, 960], 'this': [54, 74, 92, 115, 140, 167, 187, 223, 247, 267, 285, 308, 333, 360, 380, 416, 479], 'authorJoanne': [55, 248], 'Dixon,': [56, 249], 'Joanne': [57, 250], 'Dixon': [58, 251], 'Cytogenetics': [59, 172, 252, 365], 'Wellington': [61, 66, 174, 179, 254, 259, 367, 372], 'Hospital,': [62, 102, 175, 255, 295, 368], 'Private': [63, 176, 256, 369], 'Bag': [64, 177, 257, 370], '7902,': [65, 178, 258, 371], 'South,': [67, 180, 260, 373], 'New': [68, 86, 181, 261, 279, 374], 'ZealandSearch': [69, 87, 182, 262, 280, 375], 'authorColin': [75, 268], 'R.': [76, 79, 143, 147, 269, 272, 336, 340], 'Fenton,': [77, 270], 'Colin': [78, 271], 'Fenton': [80, 273], 'Ropata': [81, 274], 'Medical': [82, 275], 'Centre,': [83, 276], 'Lower': [84, 277], 'Hutt,': [85, 278], 'authorJohn': [93, 286], 'Hungerford,': [94, 287], 'John': [95, 288], 'Hungerford': [96, 289], 'Ophthalmology,': [99, 292], 'St.': [100, 293], "Bartholomew's": [101, 294], 'West': [103, 296], 'Smithfield,': [104, 297], 'London,': [105, 298], 'ECIA': [106, 299], '7BE,': [107, 300], 'UK;': [108, 301], 'Fax:': [109, 302], '44-1865-275318Search': [110, 303], 'authorSally': [116, 309], 'A.': [117, 120, 142, 146, 310, 313, 335, 339], 'Lynch,': [118, 311], 'Sally': [119, 312], 'Lynch': [121, 314], 'Northern': [122, 149, 315, 342], 'Region': [123, 150, 316, 343], 'Service,': [125, 152, 318, 345], 'Royal': [126, 153, 319, 346], 'Victoria': [127, 154, 320, 347], 'Infirmary,': [128, 155, 321, 348], '19,': [129, 156, 322, 349], 'Newcastle': [130, 157, 323, 350], 'upon': [131, 158, 324, 351], 'Tyne,': [132, 159, 325, 352], 'NE2': [133, 160, 326, 353], '4AA,': [134, 161, 327, 354], 'authorSusan': [141, 334], 'Stenhouses,': [144, 337], 'Susan': [145, 338], 'Stenhouses': [148, 341], 'authorA': [168, 361], 'Christian,': [169, 362], 'A': [170, 363, 715, 773, 775, 1092], 'Christian': [171, 364], 'authorIan': [188, 381], 'W.': [189, 194, 382, 387], 'Craig,': [190, 383], 'Corresponding': [191, 384], 'Author': [192, 385], 'Ian': [193, 386], 'Craig': [195, 388, 620, 652, 675, 712], 'UKGenetics': [207, 400], 'author': [224, 417], 'First': [418], 'published:': [419], '07': [420], 'January': [421], '1999': [422], 'https://doi.org/10.1002/(SICI)1098-1004(1997)9:1<53::AID-HUMU9>3.0.CO;2-QCitations:': [423], '7AboutPDF': [424], 'ToolsRequest': [425], 'permissionExport': [426], 'citationAdd': [427], 'to': [428, 450, 473], 'favoritesTrack': [429], 'citation': [430], 'ShareShare': [431], 'Give': [432], 'accessShare': [433, 436], 'full': [434], 'text': [435], 'full-text': [437, 452, 476], 'accessPlease': [438], 'review': [439], 'our': [440], 'Terms': [441, 464], 'Conditions': [443, 466], 'Use': [445], 'check': [447], 'box': [448], 'below': [449, 472], 'share': [451, 474], 'version': [453, 477], 'article.I': [455], 'have': [456], 'read': [457], 'accept': [459], 'Wiley': [461], 'Online': [462], 'Library': [463], 'UseShareable': [468], 'LinkUse': [469], 'link': [471], 'a': [475, 525, 594, 627, 680, 687, 690, 745, 786, 852, 918, 998, 1034, 1112, 1124], 'article': [480], 'your': [482], 'friends': [483], 'colleagues.': [485], 'Learn': [486], 'more.Copy': [487], 'URL': [488], 'References': [489], 'Berger': [490, 539, 933], 'W,': [491, 540, 934], 'Meindl': [492, 554, 931, 976, 1013], 'A,': [493, 503, 505, 517, 548, 555, 580, 705, 769, 834, 932, 950, 977, 1014], 'van': [494, 937], 'de': [495, 542, 577, 938], 'Pol': [496, 543, 939], 'TJR,': [497], 'Cremers': [498, 558, 951], 'FPM,': [499], 'Ropers': [500, 560, 841, 953], 'HH,': [501], 'Doerner': [502], 'Monaco': [504], 'Bergen': [506], 'AAB,': [507], 'Lebo': [508], 'R,': [509], 'Warburg': [510, 545, 1087], 'M,': [511, 546, 584, 764, 766, 879, 946, 1022, 1060], 'Zergollern': [512], 'L,': [513, 550], 'Lorenz': [514, 978], 'B,': [515, 836, 979, 1018], 'Gal': [516, 547, 772, 833, 949], 'Bleeker-Wagermakers': [518, 549], 'EM,': [519, 641, 670, 703], 'Meitinger': [520, 556, 935, 986, 1011], 'T': [521, 987], '(1992a)': [522], 'Isolation': [523, 623], 'candidate': [526, 566, 628], 'gene': [527, 567, 595, 629, 685, 721, 746, 784, 822, 893, 994, 1122, 1143], 'Norrie': [529, 569, 590, 631, 655, 719, 741, 782, 791, 820, 858, 891, 923, 956, 1003, 1030, 1046, 1141], 'disease': [530, 591, 720, 742, 783, 821, 892, 924, 957, 1031, 1121, 1142], 'positional': [532], 'cloning.': [533], 'Nature': [534, 633, 729, 971, 1041], 'Genet': [535, 573, 604, 634, 696, 730, 755, 795, 829, 862, 899, 972, 1007, 1042], '1:': [536, 574, 635], '199–': [537], '203.': [538], 'Van': [541], 'D,': [544, 735, 940, 1133], 'De': [551], 'Silva': [552], 'H,': [553, 647, 771, 942, 948, 981, 983], 'T,': [557, 871, 936, 1012, 1064], 'F,': [559, 952, 1104], 'HH': [561, 842, 954], '(1992b)': [562], 'disease.': [570, 632, 792, 859, 1004], 'Hum': [571, 694, 793, 827, 898, 1005], 'Mol': [572, 695, 794, 828, 1006], '461–': [575], '465.': [576], 'la': [578], 'Chapelle': [579], 'Sankila': [581], 'E-M.': [582], 'Lindof': [583], 'Aula': [585], 'P,': [586, 985, 1016], 'Norio': [587], 'R': [588], '(1985)': [589], 'caused': [592, 959], 'deletion': [596, 846], 'allowing': [597], 'carrier': [598], 'detection': [599, 1071], 'prenatal': [601], 'diagnosis.': [602], 'Clin': [603], '28:': [605], '317–': [606], '320.': [607], 'Chen': [608, 638, 667, 700], 'Z-Y,': [609, 639, 668, 701], 'Hendricks': [610, 642], 'RW,': [611, 643], 'Jobling': [612], 'MA,': [613], 'Powell': [614, 644], 'JF,': [615, 645], 'Breakefield': [616, 650, 673, 710], 'XO,': [617, 651, 674, 711], 'Sims': [618, 648, 708], 'KB,': [619, 649], 'IW': [621, 653, 676, 713], '(1992)': [622, 955], 'characterisation': [625, 657], '204–': [636], '208.': [637], 'Batinelli': [640], 'Middleton-Price': [646], '(1993a)': [654], 'disease:': [656, 1091], 'deletions': [659], 'possible': [661], 'function.': [662], 'Genomics': [663, 1083], '16:': [664], '533–': [665], '535.': [666], 'Battinelli': [669, 702], 'Woodruff': [671], 'G,': [672], '(1993b)': [677], 'Characterisation': [678], 'mutation': [681, 716, 778, 884, 920, 1114], 'within': [682], 'family': [688], 'manifesting': [691], 'female': [692], 'carrier.': [693], '2:': [697, 830, 973], '1727–': [698], '11729.': [699], 'Fielder': [704], 'Bundey': [706], 'S,': [707, 760], 'K,': [709, 908], '(1993c)': [714], '(NDP)': [722], 'X-linked': [725], 'familial': [726], 'exudative': [727], 'vitreoretinopathy.': [728], '5:': [731, 1043, 1056, 1084], '180–': [732], '183.': [733], 'Donnai': [734], 'Mountford': [736], 'RC,': [737], 'Read': [738], 'AP': [739], '(1988)': [740], 'resulting': [743], 'from': [744], 'deletion:': [747], 'clinical': [748], 'features': [749], 'DNA': [751, 1076], 'studies.': [752], 'J': [753, 1024], 'Med': [754], '25:': [756], '73–': [757], '78.': [758], 'Fuchs': [759], 'Xu': [761], 'SY,': [762], 'Caballero': [763], 'Salcedo': [765], 'La': [767], 'O': [768], 'Wedemann': [770], '(1994)': [774, 913, 1136], 'missense': [776, 813], 'point': [777, 1073], '(Leul3Arg)': [779], 'large': [787], 'Cuban': [788], 'kindred': [789], '3:': [796], '655–': [797], '656.': [798], 'Fuentes': [799], 'JJ.': [800], 'Volpini': [801], 'V,': [802], 'Torla': [803], 'FF,': [804], 'Coto': [805], 'E,': [806], 'Estivill': [807], 'X': [808, 849], '(1993)': [809, 1025, 1109], 'Identification': [810, 1110], 'two': [812, 824, 895], '(K58N': [815], 'R121Q)': [817], 'Spanish': [825], 'families.': [826, 897, 1146], '1953–': [831], '1955.': [832], 'Wieringa': [835], 'Smeets': [837], 'DF,': [838], 'Bleeker-Wagemakers': [839], 'LM,': [840], '(1986)': [843], 'Submicroscopic': [844], 'interstitial': [845], 'chromosome': [850], 'explains': [851], 'complex': [853], 'genetic': [854], 'syndrome': [855], 'dominated': [856], 'Cytogenet': [860], 'Cell': [861], '40:': [863], '219–': [864], '224.': [865], 'Isashiki': [866], 'Y,': [867, 1062], 'Ohba': [868], 'N,': [869, 873, 875], 'Yanagita': [870], 'Hokita': [872], 'Doi': [874], 'Nakagawa': [876], 'M': [877, 1088], 'Ozawa': [878], 'Kuroda': [880], 'N': [881], '(1995)': [882, 988], 'Novel': [883], 'at': [885, 1115], 'initiation': [887], 'codon': [888, 1116], 'Japanese': [896], '95:': [900], '105–': [901], '108.': [902], 'Joos': [903], 'KM,': [904], 'Kimura': [905], 'AK,': [906], 'Vandenburgh': [907], 'Bartly': [909], 'JA,': [910], 'Stone': [911], 'EM': [912], 'Ocular': [914], 'findings': [915], 'Cys39Arg': [919], 'gene.': [925], 'Arch': [926, 1127], 'Ophthalmol': [927, 1055, 1098, 1128, 1148], '112:': [928], '1574–': [929], '1579.': [930], 'Achatz': [941, 980], 'Dorner': [943], 'C,': [944, 1020], 'Hassemann': [945], 'Hellebrand': [947, 982], 'is': [958], 'an': [961], 'extracellular': [962], 'protein': [963, 1032], 'resembling': [964], 'C': [965], 'terminal': [966], 'globular': [967], 'domain': [968], 'mucins.': [970], '139–': [974], '143.': [975], 'Schmitz-Valckenberg': [984], 'Missense': [989], 'patients': [996], 'course': [1001], '4:': [1008], '489–': [1009], '490.': [1010], 'Bork': [1015], 'Rost': [1017], 'Sander': [1019], 'Haasemann': [1021], 'Murken': [1023], 'Molecular': [1026], 'modelling': [1027], 'predicts': [1033], 'cysteine': [1035], 'knot': [1036], 'growth': [1037], 'factor': [1038], 'tertiary': [1039], 'structure.': [1040], '376–': [1044], '380.': [1045], 'G': [1047], '(1927)': [1048], 'Causes': [1049], 'blindness': [1051], 'children.': [1053], 'Acta': [1054, 1097], '357–': [1057], '386.': [1058], 'Orita': [1059], 'Suzuki': [1061], 'Sekiya': [1063], 'Hayashi': [1065], 'K': [1066], '(1989)': [1067], 'Rapid': [1068], 'sensitive': [1070], 'polymorhisms': [1077], 'using': [1078], 'polymerase': [1080], 'chain': [1081], 'reaction.': [1082], '874–': [1085], '879.': [1086], '(1966)': [1089], "Norrie's": [1090, 1120], 'congenital': [1093], 'progressive': [1094], 'oculo-acoustico-cerebral': [1095], 'degeneration.': [1096], '(suppl)': [1099, 1151], '89:': [1100], '1–': [1101], '147.': [1102], 'Wong': [1103], 'Goldberg': [1105], 'MF,': [1106], 'Hao': [1107], 'Y': [1108], 'nonsense': [1113], '128': [1117], 'male': [1125], 'infant.': [1126], '111:': [1129], '1553–': [1130], '1557.': [1131], 'Zhu': [1132], 'Maumenee': [1134], 'IH': [1135], 'Mutation': [1137], 'analysis': [1138], 'eleven': [1145], 'Invest': [1147], 'Vis': [1149], 'Sci': [1150], '35:': [1152], '1265.': [1153], 'Citing': [1154], 'Literature': [1155], 'Volume9,': [1156], 'Issue11997Pages': [1157], 'ReferencesRelatedInformation': [1159]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W1994454263', 'counts_by_year': [{'year': 2022, 'cited_by_count': 1}, {'year': 2021, 'cited_by_count': 1}, {'year': 2020, 'cited_by_count': 1}, {'year': 2012, 'cited_by_count': 1}], 'updated_date': '2024-12-12T21:05:59.646169', 'created_date': '2016-06-24'}