Get quick answers to your questions about the article from our AI researcher chatbot
{'id': 'https://openalex.org/W4388562925', 'doi': 'https://doi.org/10.1101/2023.11.09.23298241', 'title': '<i>ABCA4-</i>Related Retinopathies in Lebanon: a novel mutation and significant heterogeneity', 'display_name': '<i>ABCA4-</i>Related Retinopathies in Lebanon: a novel mutation and significant heterogeneity', 'publication_year': 2023, 'publication_date': '2023-11-10', 'ids': {'openalex': 'https://openalex.org/W4388562925', 'doi': 'https://doi.org/10.1101/2023.11.09.23298241'}, 'language': 'en', 'primary_location': {'is_oa': True, 'landing_page_url': 'https://doi.org/10.1101/2023.11.09.23298241', 'pdf_url': 'https://www.medrxiv.org/content/medrxiv/early/2023/11/10/2023.11.09.23298241.full.pdf', 'source': {'id': 'https://openalex.org/S4306400573', 'display_name': 'medRxiv (Cold Spring Harbor Laboratory)', 'issn_l': None, 'issn': None, 'is_oa': True, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I2750212522', 'host_organization_name': 'Cold Spring Harbor Laboratory', 'host_organization_lineage': ['https://openalex.org/I2750212522'], 'host_organization_lineage_names': ['Cold Spring Harbor Laboratory'], 'type': 'repository'}, 'license': None, 'license_id': None, 'version': 'submittedVersion', 'is_accepted': False, 'is_published': False}, 'type': 'preprint', 'type_crossref': 'posted-content', 'indexed_in': ['crossref'], 'open_access': {'is_oa': True, 'oa_status': 'green', 'oa_url': 'https://www.medrxiv.org/content/medrxiv/early/2023/11/10/2023.11.09.23298241.full.pdf', 'any_repository_has_fulltext': True}, 'authorships': [{'author_position': 'first', 'author': {'id': 'https://openalex.org/A5055712037', 'display_name': 'Mariam Ibrahim', 'orcid': 'https://orcid.org/0000-0001-6471-0237'}, 'institutions': [{'id': 'https://openalex.org/I36314861', 'display_name': 'Beirut Arab University', 'ror': 'https://ror.org/02jya5567', 'country_code': 'LB', 'type': 'education', 'lineage': ['https://openalex.org/I36314861']}, {'id': 'https://openalex.org/I160368002', 'display_name': 'Lebanese University', 'ror': 'https://ror.org/05x6qnc69', 'country_code': 'LB', 'type': 'education', 'lineage': ['https://openalex.org/I160368002']}], 'countries': ['LB'], 'is_corresponding': False, 'raw_author_name': 'Mariam Ibrahim', 'raw_affiliation_strings': ['Medical Testing Laboratory, Department of Medical Laboratory Technology, Faculty of Health Sciences, Beirut Arab University, Beirut, Lebanon', 'Rammal Hassan Rammal Research Laboratory, PhyToxE Research Group, Faculty of Sciences, Lebanese University, Nabatieh, Lebanon'], 'affiliations': [{'raw_affiliation_string': 'Medical Testing Laboratory, Department of Medical Laboratory Technology, Faculty of Health Sciences, Beirut Arab University, Beirut, Lebanon', 'institution_ids': ['https://openalex.org/I36314861']}, {'raw_affiliation_string': 'Rammal Hassan Rammal Research Laboratory, PhyToxE Research Group, Faculty of Sciences, Lebanese University, Nabatieh, Lebanon', 'institution_ids': ['https://openalex.org/I160368002']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5016616074', 'display_name': 'Lama Jaffal', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I911468752', 'display_name': 'Lebanese International University', 'ror': 'https://ror.org/034agrd14', 'country_code': 'LB', 'type': 'education', 'lineage': ['https://openalex.org/I911468752']}], 'countries': ['LB'], 'is_corresponding': False, 'raw_author_name': 'Lama Jaffal', 'raw_affiliation_strings': ['Department of Biological and Chemical Sciences, School of Arts and Sciences, Lebanese International University, Beirut, Lebanon'], 'affiliations': [{'raw_affiliation_string': 'Department of Biological and Chemical Sciences, School of Arts and Sciences, Lebanese International University, Beirut, Lebanon', 'institution_ids': ['https://openalex.org/I911468752']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5084760789', 'display_name': 'Alexandre Assi', 'orcid': None}, 'institutions': [], 'countries': ['LB'], 'is_corresponding': False, 'raw_author_name': 'Alexandre Assi', 'raw_affiliation_strings': ['Beirut Eye Clinic, Beirut, Lebanon'], 'affiliations': [{'raw_affiliation_string': 'Beirut Eye Clinic, Beirut, Lebanon', 'institution_ids': []}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5040983971', 'display_name': 'Charles Helou', 'orcid': 'https://orcid.org/0000-0001-5549-9695'}, 'institutions': [], 'countries': ['LB'], 'is_corresponding': False, 'raw_author_name': 'Charles Helou', 'raw_affiliation_strings': ['Retinal Service, Beirut Eye & ENT Specialist Hospital, Beirut, Lebanon'], 'affiliations': [{'raw_affiliation_string': 'Retinal Service, Beirut Eye & ENT Specialist Hospital, Beirut, Lebanon', 'institution_ids': []}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5032089630', 'display_name': 'Saïd El Shamieh', 'orcid': 'https://orcid.org/0000-0002-8522-0445'}, 'institutions': [{'id': 'https://openalex.org/I36314861', 'display_name': 'Beirut Arab University', 'ror': 'https://ror.org/02jya5567', 'country_code': 'LB', 'type': 'education', 'lineage': ['https://openalex.org/I36314861']}], 'countries': ['LB'], 'is_corresponding': True, 'raw_author_name': 'Said El Shamieh', 'raw_affiliation_strings': ['Medical Testing Laboratory, Department of Medical Laboratory Technology, Faculty of Health Sciences, Beirut Arab University, Beirut, Lebanon'], 'affiliations': [{'raw_affiliation_string': 'Medical Testing Laboratory, Department of Medical Laboratory Technology, Faculty of Health Sciences, Beirut Arab University, Beirut, Lebanon', 'institution_ids': ['https://openalex.org/I36314861']}]}], 'institution_assertions': [], 'countries_distinct_count': 1, 'institutions_distinct_count': 3, 'corresponding_author_ids': ['https://openalex.org/A5032089630'], 'corresponding_institution_ids': ['https://openalex.org/I36314861'], 'apc_list': None, 'apc_paid': None, 'fwci': None, 'has_fulltext': True, 'fulltext_origin': 'pdf', 'cited_by_count': 0, 'citation_normalized_percentile': {'value': 0.0, 'is_in_top_1_percent': False, 'is_in_top_10_percent': False}, 'cited_by_percentile_year': {'min': 0, 'max': 67}, 'biblio': {'volume': None, 'issue': None, 'first_page': None, 'last_page': None}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T10691', 'display_name': 'Retinal Development and Disorders', 'score': 0.9997, '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/T10691', 'display_name': 'Retinal Development and Disorders', 'score': 0.9997, '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/T10831', 'display_name': 'Cell Adhesion Molecules Research', 'score': 0.9986, 'subfield': {'id': 'https://openalex.org/subfields/2723', 'display_name': 'Immunology and Allergy'}, '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/T10617', 'display_name': 'Cellular transport and secretion', 'score': 0.9973, 'subfield': {'id': 'https://openalex.org/subfields/1307', 'display_name': 'Cell 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/abca4', 'display_name': 'ABCA4', 'score': 0.9979161}, {'id': 'https://openalex.org/keywords/stargardt-disease', 'display_name': 'Stargardt disease', 'score': 0.96849257}], 'concepts': [{'id': 'https://openalex.org/C2779460726', 'wikidata': 'https://www.wikidata.org/wiki/Q21115224', 'display_name': 'ABCA4', 'level': 4, 'score': 0.9979161}, {'id': 'https://openalex.org/C2780604041', 'wikidata': 'https://www.wikidata.org/wiki/Q1317319', 'display_name': 'Stargardt disease', 'level': 3, 'score': 0.96849257}, {'id': 'https://openalex.org/C54355233', 'wikidata': 'https://www.wikidata.org/wiki/Q7162', 'display_name': 'Genetics', 'level': 1, 'score': 0.7158827}, {'id': 'https://openalex.org/C64618202', 'wikidata': 'https://www.wikidata.org/wiki/Q3733697', 'display_name': 'Genetic heterogeneity', 'level': 4, 'score': 0.5573136}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.55000156}, {'id': 'https://openalex.org/C501734568', 'wikidata': 'https://www.wikidata.org/wiki/Q42918', 'display_name': 'Mutation', 'level': 3, 'score': 0.47680756}, {'id': 'https://openalex.org/C84597430', 'wikidata': 'https://www.wikidata.org/wiki/Q106227', 'display_name': 'Locus (genetics)', 'level': 3, 'score': 0.43223143}, {'id': 'https://openalex.org/C104317684', 'wikidata': 'https://www.wikidata.org/wiki/Q7187', 'display_name': 'Gene', 'level': 2, 'score': 0.42018434}, {'id': 'https://openalex.org/C135763542', 'wikidata': 'https://www.wikidata.org/wiki/Q106016', 'display_name': 'Genotype', 'level': 3, 'score': 0.41232726}, {'id': 'https://openalex.org/C127716648', 'wikidata': 'https://www.wikidata.org/wiki/Q104053', 'display_name': 'Phenotype', 'level': 3, 'score': 0.35877618}], 'mesh': [], 'locations_count': 1, 'locations': [{'is_oa': True, 'landing_page_url': 'https://doi.org/10.1101/2023.11.09.23298241', 'pdf_url': 'https://www.medrxiv.org/content/medrxiv/early/2023/11/10/2023.11.09.23298241.full.pdf', 'source': {'id': 'https://openalex.org/S4306400573', 'display_name': 'medRxiv (Cold Spring Harbor Laboratory)', 'issn_l': None, 'issn': None, 'is_oa': True, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I2750212522', 'host_organization_name': 'Cold Spring Harbor Laboratory', 'host_organization_lineage': ['https://openalex.org/I2750212522'], 'host_organization_lineage_names': ['Cold Spring Harbor Laboratory'], 'type': 'repository'}, 'license': None, 'license_id': None, 'version': 'submittedVersion', 'is_accepted': False, 'is_published': False}], 'best_oa_location': {'is_oa': True, 'landing_page_url': 'https://doi.org/10.1101/2023.11.09.23298241', 'pdf_url': 'https://www.medrxiv.org/content/medrxiv/early/2023/11/10/2023.11.09.23298241.full.pdf', 'source': {'id': 'https://openalex.org/S4306400573', 'display_name': 'medRxiv (Cold Spring Harbor Laboratory)', 'issn_l': None, 'issn': None, 'is_oa': True, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I2750212522', 'host_organization_name': 'Cold Spring Harbor Laboratory', 'host_organization_lineage': ['https://openalex.org/I2750212522'], 'host_organization_lineage_names': ['Cold Spring Harbor Laboratory'], 'type': 'repository'}, 'license': None, 'license_id': None, 'version': 'submittedVersion', 'is_accepted': False, 'is_published': False}, 'sustainable_development_goals': [{'display_name': 'Good health and well-being', 'id': 'https://metadata.un.org/sdg/3', 'score': 0.46}], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 48, 'referenced_works': ['https://openalex.org/W1526371295', 'https://openalex.org/W162823058', 'https://openalex.org/W1964753793', 'https://openalex.org/W1970413157', 'https://openalex.org/W1980740976', 'https://openalex.org/W1987106155', 'https://openalex.org/W2000105432', 'https://openalex.org/W2005100157', 'https://openalex.org/W2015944929', 'https://openalex.org/W2027567557', 'https://openalex.org/W2035503320', 'https://openalex.org/W2037545232', 'https://openalex.org/W2039557014', 'https://openalex.org/W2045791858', 'https://openalex.org/W2049833320', 'https://openalex.org/W2059145105', 'https://openalex.org/W2076088544', 'https://openalex.org/W2077602259', 'https://openalex.org/W2082541003', 'https://openalex.org/W2084235299', 'https://openalex.org/W2100303227', 'https://openalex.org/W2127846999', 'https://openalex.org/W2128016314', 'https://openalex.org/W2164929411', 'https://openalex.org/W2167069297', 'https://openalex.org/W2414872275', 'https://openalex.org/W2505357900', 'https://openalex.org/W2792615945', 'https://openalex.org/W2801624020', 'https://openalex.org/W2808848006', 'https://openalex.org/W2883657293', 'https://openalex.org/W2912701167', 'https://openalex.org/W2913582298', 'https://openalex.org/W2949583421', 'https://openalex.org/W2963227531', 'https://openalex.org/W2975789835', 'https://openalex.org/W2979357971', 'https://openalex.org/W2990056589', 'https://openalex.org/W3016046095', 'https://openalex.org/W3029661147', 'https://openalex.org/W3039451854', 'https://openalex.org/W30413558', 'https://openalex.org/W3084210898', 'https://openalex.org/W3093945124', 'https://openalex.org/W3124631226', 'https://openalex.org/W3125890710', 'https://openalex.org/W3130172650', 'https://openalex.org/W3181117948'], 'related_works': ['https://openalex.org/W846831161', 'https://openalex.org/W4388562925', 'https://openalex.org/W4384119948', 'https://openalex.org/W4383066835', 'https://openalex.org/W4245430697', 'https://openalex.org/W4235587654', 'https://openalex.org/W3151109984', 'https://openalex.org/W2443366138', 'https://openalex.org/W1979123026', 'https://openalex.org/W1176855676'], 'abstract_inverted_index': {'Abstract': [0], 'Mutations': [1], 'in': [2, 83, 95, 152], 'ATP-binding': [3], 'cassette': [4], 'transporter': [5], 'type': [6], 'A4': [7], '(': [8], 'ABCA4': [9, 31, 33, 71, 78, 113, 143], ')': [10], 'have': [11], 'been': [12, 81], 'linked': [13], 'to': [14, 64, 90], 'several': [15], 'forms': [16, 100], 'of': [17, 49, 58, 101], 'inherited': [18], 'retinal': [19], 'diseases': [20], '(IRDs)': [21], 'besides': [22], 'the': [23, 65, 92], 'classically': [24], 'defined': [25], 'Stargardt': [26], 'disease': [27], '(STGD),': [28], 'known': [29], 'as': [30], 'retinopathies.': [32], 'is': [34, 73], 'a': [35, 46, 141], 'sizeable': [36], 'locus': [37], 'harboring': [38], '50': [39], 'exons;': [40], 'thus,': [41], 'its': [42], 'analysis': [43], 'has': [44, 80], 'revealed': [45, 140], 'rich': [47], 'area': [48], 'genetic': [50, 68], 'information': [51], 'comprising': [52], 'at': [53], 'least': [54], '1,200': [55], 'disease-causing': [56], 'mutations': [57, 114], 'varied': [59], 'severity': [60], 'and': [61, 67, 105, 109, 131, 145, 149], 'types.': [62], 'Due': [63], 'clinical': [66], 'heterogeneity,': [69], 'diagnosing': [70], 'retinopathies': [72], 'challenging.': [74], 'To': [75], 'date,': [76], 'no': [77], '-retinopathy': [79], 'detected': [82], 'Lebanon.': [84, 153], 'Using': [85], 'next-generation': [86], 'sequencing,': [87], 'we': [88], 'sought': [89], 'pinpoint': [91], 'mutation': [93, 144], 'spectrum': [94], 'seven': [96], 'families': [97, 123], 'with': [98, 126, 129, 134], 'different': [99], 'IRDs:': [102], 'STGD,': [103, 130], 'rod-cone': [104], 'cone-rod': [106], 'dystrophies': [107], '(RCD': [108], 'CRD,': [110, 127], 'respectively).': [111], 'Eight': [112], 'were': [115, 124], 'found,': [116], 'including': [117], 'one': [118], 'novel;': [119], 'c.4330G>C;': [120], 'p.(Trp1408Cys).': [121], 'Three': [122], 'diagnosed': [125], 'two': [128, 132], 'others': [133], 'RCD.': [135], 'In': [136], 'conclusion,': [137], 'our': [138], 'study': [139], 'novel': [142], 'showed': [146], 'significant': [147], 'genotypic': [148], 'phenotypic': [150], 'heterogeneity': [151]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W4388562925', 'counts_by_year': [], 'updated_date': '2025-01-04T03:27:26.850881', 'created_date': '2023-11-11'}