Get quick answers to your questions about the article from our AI researcher chatbot
{'id': 'https://openalex.org/W2101590985', 'doi': 'https://doi.org/10.1681/asn.2013080912', 'title': 'Improving Mutation Screening in Familial Hematuric Nephropathies through Next Generation Sequencing', 'display_name': 'Improving Mutation Screening in Familial Hematuric Nephropathies through Next Generation Sequencing', 'publication_year': 2014, 'publication_date': '2014-12-01', 'ids': {'openalex': 'https://openalex.org/W2101590985', 'doi': 'https://doi.org/10.1681/asn.2013080912', 'mag': '2101590985', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/24854265', 'pmcid': 'https://www.ncbi.nlm.nih.gov/pmc/articles/4243343'}, 'language': 'en', 'primary_location': {'is_oa': True, 'landing_page_url': 'https://doi.org/10.1681/asn.2013080912', 'pdf_url': 'https://jasn.asnjournals.org/content/jnephrol/25/12/2740.full.pdf', 'source': {'id': 'https://openalex.org/S115693375', 'display_name': 'Journal of the American Society of Nephrology', 'issn_l': '1046-6673', 'issn': ['1046-6673', '1533-3450'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310315620', 'host_organization_name': 'American Society of Nephrology', 'host_organization_lineage': ['https://openalex.org/P4310315620'], 'host_organization_lineage_names': ['American Society of Nephrology'], '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://jasn.asnjournals.org/content/jnephrol/25/12/2740.full.pdf', 'any_repository_has_fulltext': True}, 'authorships': [{'author_position': 'first', 'author': {'id': 'https://openalex.org/A5042405446', 'display_name': 'Vincent Morinière', 'orcid': 'https://orcid.org/0000-0003-1795-222X'}, 'institutions': [{'id': 'https://openalex.org/I4210097159', 'display_name': 'Assistance Publique – Hôpitaux de Paris', 'ror': 'https://ror.org/00pg5jh14', 'country_code': 'FR', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210097159']}], 'countries': ['FR'], 'is_corresponding': True, 'raw_author_name': 'Vincent Morinière', 'raw_affiliation_strings': ['Assistance Publique des Hôpitaux de Paris, Reference Center for Renal Hereditary Disease for Children and Adults (MARHEA), Paris, France', 'Departments of Genetics, and'], 'affiliations': [{'raw_affiliation_string': 'Assistance Publique des Hôpitaux de Paris, Reference Center for Renal Hereditary Disease for Children and Adults (MARHEA), Paris, France', 'institution_ids': ['https://openalex.org/I4210097159']}, {'raw_affiliation_string': 'Departments of Genetics, and', 'institution_ids': []}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5017975921', 'display_name': 'Karin Dahan', 'orcid': 'https://orcid.org/0000-0003-3036-7981'}, 'institutions': [{'id': 'https://openalex.org/I4210099787', 'display_name': 'Institute of Pathology and Genetics', 'ror': 'https://ror.org/00zam0e96', 'country_code': 'BE', 'type': 'nonprofit', 'lineage': ['https://openalex.org/I4210099787']}], 'countries': ['BE'], 'is_corresponding': False, 'raw_author_name': 'Karin Dahan', 'raw_affiliation_strings': ['Department of Genetics, Institute of Pathology and Genetics, Gosselies, Belgium'], 'affiliations': [{'raw_affiliation_string': 'Department of Genetics, Institute of Pathology and Genetics, Gosselies, Belgium', 'institution_ids': ['https://openalex.org/I4210099787']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5016348712', 'display_name': 'Pascale Hilbert', 'orcid': 'https://orcid.org/0000-0003-4540-4538'}, 'institutions': [{'id': 'https://openalex.org/I4210099787', 'display_name': 'Institute of Pathology and Genetics', 'ror': 'https://ror.org/00zam0e96', 'country_code': 'BE', 'type': 'nonprofit', 'lineage': ['https://openalex.org/I4210099787']}], 'countries': ['BE'], 'is_corresponding': False, 'raw_author_name': 'Pascale Hilbert', 'raw_affiliation_strings': ['Department of Genetics, Institute of Pathology and Genetics, Gosselies, Belgium'], 'affiliations': [{'raw_affiliation_string': 'Department of Genetics, Institute of Pathology and Genetics, Gosselies, Belgium', 'institution_ids': ['https://openalex.org/I4210099787']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5007578957', 'display_name': 'Marieline Lison', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I4210099787', 'display_name': 'Institute of Pathology and Genetics', 'ror': 'https://ror.org/00zam0e96', 'country_code': 'BE', 'type': 'nonprofit', 'lineage': ['https://openalex.org/I4210099787']}], 'countries': ['BE'], 'is_corresponding': False, 'raw_author_name': 'Marieline Lison', 'raw_affiliation_strings': ['Department of Genetics, Institute of Pathology and Genetics, Gosselies, Belgium'], 'affiliations': [{'raw_affiliation_string': 'Department of Genetics, Institute of Pathology and Genetics, Gosselies, Belgium', 'institution_ids': ['https://openalex.org/I4210099787']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5016701155', 'display_name': 'Saïd Lebbah', 'orcid': 'https://orcid.org/0000-0002-4657-3352'}, 'institutions': [{'id': 'https://openalex.org/I4210097159', 'display_name': 'Assistance Publique – Hôpitaux de Paris', 'ror': 'https://ror.org/00pg5jh14', 'country_code': 'FR', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210097159']}], 'countries': ['FR'], 'is_corresponding': False, 'raw_author_name': 'Said Lebbah', 'raw_affiliation_strings': ['Assistance Publique des Hôpitaux de Paris, Reference Center for Renal Hereditary Disease for Children and Adults (MARHEA), Paris, France'], 'affiliations': [{'raw_affiliation_string': 'Assistance Publique des Hôpitaux de Paris, Reference Center for Renal Hereditary Disease for Children and Adults (MARHEA), Paris, France', 'institution_ids': ['https://openalex.org/I4210097159']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5075517294', 'display_name': 'Alexandra Topa', 'orcid': 'https://orcid.org/0000-0002-7518-1294'}, 'institutions': [{'id': 'https://openalex.org/I2801112325', 'display_name': 'Sahlgrenska University Hospital', 'ror': 'https://ror.org/04vgqjj36', 'country_code': 'SE', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2801112325']}], 'countries': ['SE'], 'is_corresponding': False, 'raw_author_name': 'Alexandra Topa', 'raw_affiliation_strings': ['Department of Clinical Genetics, Sahlgrenska University Hospital, Gothenburg, Sweden'], 'affiliations': [{'raw_affiliation_string': 'Department of Clinical Genetics, Sahlgrenska University Hospital, Gothenburg, Sweden', 'institution_ids': ['https://openalex.org/I2801112325']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5034526107', 'display_name': 'Christine Bôle‐Feysot', 'orcid': 'https://orcid.org/0000-0002-1935-3063'}, 'institutions': [{'id': 'https://openalex.org/I4210165077', 'display_name': 'Institut des Maladies Génétiques Imagine', 'ror': 'https://ror.org/05rq3rb55', 'country_code': 'FR', 'type': 'facility', 'lineage': ['https://openalex.org/I154526488', 'https://openalex.org/I204730241', 'https://openalex.org/I4210100892', 'https://openalex.org/I4210165077']}], 'countries': ['FR'], 'is_corresponding': False, 'raw_author_name': 'Christine Bole-Feysot', 'raw_affiliation_strings': ['Genomics Platform, Imagine Institute, Paris, France'], 'affiliations': [{'raw_affiliation_string': 'Genomics Platform, Imagine Institute, Paris, France', 'institution_ids': ['https://openalex.org/I4210165077']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5019790518', 'display_name': 'Solenn Pruvost', 'orcid': 'https://orcid.org/0000-0001-5536-0642'}, 'institutions': [{'id': 'https://openalex.org/I4210165077', 'display_name': 'Institut des Maladies Génétiques Imagine', 'ror': 'https://ror.org/05rq3rb55', 'country_code': 'FR', 'type': 'facility', 'lineage': ['https://openalex.org/I154526488', 'https://openalex.org/I204730241', 'https://openalex.org/I4210100892', 'https://openalex.org/I4210165077']}], 'countries': ['FR'], 'is_corresponding': False, 'raw_author_name': 'Solenn Pruvost', 'raw_affiliation_strings': ['Genomics Platform, Imagine Institute, Paris, France'], 'affiliations': [{'raw_affiliation_string': 'Genomics Platform, Imagine Institute, Paris, France', 'institution_ids': ['https://openalex.org/I4210165077']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5028326580', 'display_name': 'Patrick Nitschké', 'orcid': 'https://orcid.org/0000-0002-2094-3298'}, 'institutions': [{'id': 'https://openalex.org/I204730241', 'display_name': 'Université Paris Cité', 'ror': 'https://ror.org/05f82e368', 'country_code': 'FR', 'type': 'education', 'lineage': ['https://openalex.org/I204730241']}, {'id': 'https://openalex.org/I4210091437', 'display_name': 'Sorbonne Paris Cité', 'ror': 'https://ror.org/001z21q04', 'country_code': 'FR', 'type': 'other', 'lineage': ['https://openalex.org/I4210091437']}, {'id': 'https://openalex.org/I110736937', 'display_name': 'Délégation Paris 5', 'ror': 'https://ror.org/02e0y6e06', 'country_code': 'FR', 'type': 'government', 'lineage': ['https://openalex.org/I110736937', 'https://openalex.org/I154526488']}], 'countries': ['FR'], 'is_corresponding': False, 'raw_author_name': 'Patrick Nitschke', 'raw_affiliation_strings': ['Bioinformatics Platform, Paris Descartes-Sorbonne Paris Cité University, Paris, France'], 'affiliations': [{'raw_affiliation_string': 'Bioinformatics Platform, Paris Descartes-Sorbonne Paris Cité University, Paris, France', 'institution_ids': ['https://openalex.org/I204730241', 'https://openalex.org/I4210091437', 'https://openalex.org/I110736937']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5075857334', 'display_name': 'Emmanuelle Plaisier', 'orcid': None}, 'institutions': [], 'countries': [], 'is_corresponding': True, 'raw_author_name': 'Emmanuelle Plaisier', 'raw_affiliation_strings': ['Departments of Genetics, and'], 'affiliations': [{'raw_affiliation_string': 'Departments of Genetics, and', 'institution_ids': []}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5025976062', 'display_name': 'Bertrand Knebelmann', 'orcid': 'https://orcid.org/0000-0002-8115-7303'}, 'institutions': [{'id': 'https://openalex.org/I4210097159', 'display_name': 'Assistance Publique – Hôpitaux de Paris', 'ror': 'https://ror.org/00pg5jh14', 'country_code': 'FR', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210097159']}], 'countries': ['FR'], 'is_corresponding': False, 'raw_author_name': 'Bertrand Knebelmann', 'raw_affiliation_strings': ['Assistance Publique des Hôpitaux de Paris, Reference Center for Renal Hereditary Disease for Children and Adults (MARHEA), Paris, France'], 'affiliations': [{'raw_affiliation_string': 'Assistance Publique des Hôpitaux de Paris, Reference Center for Renal Hereditary Disease for Children and Adults (MARHEA), Paris, France', 'institution_ids': ['https://openalex.org/I4210097159']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5032012925', 'display_name': 'Marie‐Alice Macher', 'orcid': 'https://orcid.org/0000-0002-8003-6630'}, 'institutions': [{'id': 'https://openalex.org/I4210099787', 'display_name': 'Institute of Pathology and Genetics', 'ror': 'https://ror.org/00zam0e96', 'country_code': 'BE', 'type': 'nonprofit', 'lineage': ['https://openalex.org/I4210099787']}], 'countries': ['BE'], 'is_corresponding': False, 'raw_author_name': 'Marie-Alice Macher', 'raw_affiliation_strings': ['Department of Genetics, Institute of Pathology and Genetics, Gosselies, Belgium'], 'affiliations': [{'raw_affiliation_string': 'Department of Genetics, Institute of Pathology and Genetics, Gosselies, Belgium', 'institution_ids': ['https://openalex.org/I4210099787']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5007735427', 'display_name': 'Laure‐Hélène Noël', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I2801112325', 'display_name': 'Sahlgrenska University Hospital', 'ror': 'https://ror.org/04vgqjj36', 'country_code': 'SE', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2801112325']}], 'countries': ['SE'], 'is_corresponding': False, 'raw_author_name': 'Laure-Hélène Noel', 'raw_affiliation_strings': ['Department of Clinical Genetics, Sahlgrenska University Hospital, Gothenburg, Sweden'], 'affiliations': [{'raw_affiliation_string': 'Department of Clinical Genetics, Sahlgrenska University Hospital, Gothenburg, Sweden', 'institution_ids': ['https://openalex.org/I2801112325']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5069996257', 'display_name': 'Marie–Claire Gubler', 'orcid': 'https://orcid.org/0000-0002-3526-5661'}, 'institutions': [{'id': 'https://openalex.org/I4210165077', 'display_name': 'Institut des Maladies Génétiques Imagine', 'ror': 'https://ror.org/05rq3rb55', 'country_code': 'FR', 'type': 'facility', 'lineage': ['https://openalex.org/I154526488', 'https://openalex.org/I204730241', 'https://openalex.org/I4210100892', 'https://openalex.org/I4210165077']}], 'countries': ['FR'], 'is_corresponding': False, 'raw_author_name': 'Marie-Claire Gubler', 'raw_affiliation_strings': ['Genomics Platform, Imagine Institute, Paris, France'], 'affiliations': [{'raw_affiliation_string': 'Genomics Platform, Imagine Institute, Paris, France', 'institution_ids': ['https://openalex.org/I4210165077']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5067853725', 'display_name': 'Corinne Antignac', 'orcid': 'https://orcid.org/0000-0002-9934-4940'}, 'institutions': [{'id': 'https://openalex.org/I204730241', 'display_name': 'Université Paris Cité', 'ror': 'https://ror.org/05f82e368', 'country_code': 'FR', 'type': 'education', 'lineage': ['https://openalex.org/I204730241']}, {'id': 'https://openalex.org/I4210097159', 'display_name': 'Assistance Publique – Hôpitaux de Paris', 'ror': 'https://ror.org/00pg5jh14', 'country_code': 'FR', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210097159']}, {'id': 'https://openalex.org/I4210091437', 'display_name': 'Sorbonne Paris Cité', 'ror': 'https://ror.org/001z21q04', 'country_code': 'FR', 'type': 'other', 'lineage': ['https://openalex.org/I4210091437']}, {'id': 'https://openalex.org/I4210165077', 'display_name': 'Institut des Maladies Génétiques Imagine', 'ror': 'https://ror.org/05rq3rb55', 'country_code': 'FR', 'type': 'facility', 'lineage': ['https://openalex.org/I154526488', 'https://openalex.org/I204730241', 'https://openalex.org/I4210100892', 'https://openalex.org/I4210165077']}, {'id': 'https://openalex.org/I154526488', 'display_name': 'Inserm', 'ror': 'https://ror.org/02vjkv261', 'country_code': 'FR', 'type': 'government', 'lineage': ['https://openalex.org/I154526488']}, {'id': 'https://openalex.org/I1288880153', 'display_name': 'Hôpital Necker-Enfants Malades', 'ror': 'https://ror.org/05tr67282', 'country_code': 'FR', 'type': 'healthcare', 'lineage': ['https://openalex.org/I1288880153', 'https://openalex.org/I4210097159', 'https://openalex.org/I4210120235']}, {'id': 'https://openalex.org/I110736937', 'display_name': 'Délégation Paris 5', 'ror': 'https://ror.org/02e0y6e06', 'country_code': 'FR', 'type': 'government', 'lineage': ['https://openalex.org/I110736937', 'https://openalex.org/I154526488']}], 'countries': ['FR'], 'is_corresponding': True, 'raw_author_name': 'Corinne Antignac', 'raw_affiliation_strings': ['Assistance Publique des Hôpitaux de Paris, Reference Center for Renal Hereditary Disease for Children and Adults (MARHEA), Paris, France', 'Bioinformatics Platform, Paris Descartes-Sorbonne Paris Cité University, Paris, France', 'Departments of Genetics, and', 'Dr. Corinne Antignac, APHP, Department of Genetics, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75743 Paris Cedex 15, and Inserm UMR 1163, Paris Descartes‐Sorbonne Paris Cité University, Laboratory of Hereditary Kidney Diseases, Imagine Institute, 24 Bd du Montparnasse, 75015 Paris, France. Email: [email\xa0protected]', 'Genomics Platform, Imagine Institute, Paris, France'], 'affiliations': [{'raw_affiliation_string': 'Dr. Corinne Antignac, APHP, Department of Genetics, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75743 Paris Cedex 15, and Inserm UMR 1163, Paris Descartes‐Sorbonne Paris Cité University, Laboratory of Hereditary Kidney Diseases, Imagine Institute, 24 Bd du Montparnasse, 75015 Paris, France. Email: [email\xa0protected]', 'institution_ids': ['https://openalex.org/I204730241', 'https://openalex.org/I4210097159', 'https://openalex.org/I4210091437', 'https://openalex.org/I4210165077', 'https://openalex.org/I154526488', 'https://openalex.org/I1288880153']}, {'raw_affiliation_string': 'Assistance Publique des Hôpitaux de Paris, Reference Center for Renal Hereditary Disease for Children and Adults (MARHEA), Paris, France', 'institution_ids': ['https://openalex.org/I4210097159']}, {'raw_affiliation_string': 'Genomics Platform, Imagine Institute, Paris, France', 'institution_ids': ['https://openalex.org/I4210165077']}, {'raw_affiliation_string': 'Bioinformatics Platform, Paris Descartes-Sorbonne Paris Cité University, Paris, France', 'institution_ids': ['https://openalex.org/I204730241', 'https://openalex.org/I4210091437', 'https://openalex.org/I110736937']}, {'raw_affiliation_string': 'Departments of Genetics, and', 'institution_ids': []}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5070047711', 'display_name': 'Laurence Heidet', 'orcid': 'https://orcid.org/0000-0002-1362-5515'}, 'institutions': [{'id': 'https://openalex.org/I4210097159', 'display_name': 'Assistance Publique – Hôpitaux de Paris', 'ror': 'https://ror.org/00pg5jh14', 'country_code': 'FR', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210097159']}], 'countries': ['FR'], 'is_corresponding': True, 'raw_author_name': 'Laurence Heidet', 'raw_affiliation_strings': ['Assistance Publique des Hôpitaux de Paris, Reference Center for Renal Hereditary Disease for Children and Adults (MARHEA), Paris, France', 'Departments of Genetics, and'], 'affiliations': [{'raw_affiliation_string': 'Departments of Genetics, and', 'institution_ids': []}, {'raw_affiliation_string': 'Assistance Publique des Hôpitaux de Paris, Reference Center for Renal Hereditary Disease for Children and Adults (MARHEA), Paris, France', 'institution_ids': ['https://openalex.org/I4210097159']}]}], 'institution_assertions': [], 'countries_distinct_count': 3, 'institutions_distinct_count': 9, 'corresponding_author_ids': ['https://openalex.org/A5042405446', 'https://openalex.org/A5075857334', 'https://openalex.org/A5067853725', 'https://openalex.org/A5070047711'], 'corresponding_institution_ids': ['https://openalex.org/I4210097159', 'https://openalex.org/I204730241', 'https://openalex.org/I4210097159', 'https://openalex.org/I4210091437', 'https://openalex.org/I4210165077', 'https://openalex.org/I154526488', 'https://openalex.org/I1288880153', 'https://openalex.org/I110736937', 'https://openalex.org/I4210097159'], 'apc_list': None, 'apc_paid': None, 'fwci': 7.233, 'has_fulltext': True, 'fulltext_origin': 'ngrams', 'cited_by_count': 142, 'citation_normalized_percentile': {'value': 0.999604, 'is_in_top_1_percent': True, 'is_in_top_10_percent': True}, 'cited_by_percentile_year': {'min': 98, 'max': 99}, 'biblio': {'volume': '25', 'issue': '12', 'first_page': '2740', 'last_page': '2751'}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T10831', 'display_name': 'Integrin Signaling in Inflammation and Cancer', 'score': 0.9994, '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'}}, 'topics': [{'id': 'https://openalex.org/T10831', 'display_name': 'Integrin Signaling in Inflammation and Cancer', 'score': 0.9994, '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/T12140', 'display_name': 'Molecular Mechanisms of Kidney Development and Disease', 'score': 0.9922, '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/T11029', 'display_name': 'Pathophysiology of Glomerular Diseases and Nephrotic Syndromes', 'score': 0.9888, 'subfield': {'id': 'https://openalex.org/subfields/2727', 'display_name': 'Nephrology'}, 'field': {'id': 'https://openalex.org/fields/27', 'display_name': 'Medicine'}, 'domain': {'id': 'https://openalex.org/domains/4', 'display_name': 'Health Sciences'}}], 'keywords': [{'id': 'https://openalex.org/keywords/alport-syndrome', 'display_name': 'Alport syndrome', 'score': 0.8915785}, {'id': 'https://openalex.org/keywords/sanger-sequencing', 'display_name': 'Sanger sequencing', 'score': 0.7387458}, {'id': 'https://openalex.org/keywords/iga-nephropathy', 'display_name': 'IgA Nephropathy', 'score': 0.484787}], 'concepts': [{'id': 'https://openalex.org/C2776908417', 'wikidata': 'https://www.wikidata.org/wiki/Q1331116', 'display_name': 'Alport syndrome', 'level': 4, 'score': 0.8915785}, {'id': 'https://openalex.org/C76818968', 'wikidata': 'https://www.wikidata.org/wiki/Q181940', 'display_name': 'Sanger sequencing', 'level': 4, 'score': 0.7387458}, {'id': 'https://openalex.org/C54355233', 'wikidata': 'https://www.wikidata.org/wiki/Q7162', 'display_name': 'Genetics', 'level': 1, 'score': 0.72118855}, {'id': 'https://openalex.org/C501734568', 'wikidata': 'https://www.wikidata.org/wiki/Q42918', 'display_name': 'Mutation', 'level': 3, 'score': 0.57830447}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.55082655}, {'id': 'https://openalex.org/C16671776', 'wikidata': 'https://www.wikidata.org/wiki/Q5420592', 'display_name': 'Exome sequencing', 'level': 4, 'score': 0.47159207}, {'id': 'https://openalex.org/C51679486', 'wikidata': 'https://www.wikidata.org/wiki/Q380546', 'display_name': 'DNA sequencing', 'level': 3, 'score': 0.46345207}, {'id': 'https://openalex.org/C104317684', 'wikidata': 'https://www.wikidata.org/wiki/Q7187', 'display_name': 'Gene', 'level': 2, 'score': 0.4134152}, {'id': 'https://openalex.org/C2780368995', 'wikidata': 'https://www.wikidata.org/wiki/Q605006', 'display_name': 'Glomerulonephritis', 'level': 3, 'score': 0.26923627}, {'id': 'https://openalex.org/C2780091579', 'wikidata': 'https://www.wikidata.org/wiki/Q9377', 'display_name': 'Kidney', 'level': 2, 'score': 0.07438442}], 'mesh': [{'descriptor_ui': 'D009154', 'descriptor_name': 'Mutation', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D009394', 'descriptor_name': 'Nephritis, Hereditary', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D009394', 'descriptor_name': 'Nephritis, Hereditary', 'qualifier_ui': 'Q000473', 'qualifier_name': 'pathology', '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': 'D001324', 'descriptor_name': 'Autoantigens', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D001324', 'descriptor_name': 'Autoantigens', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D002648', 'descriptor_name': 'Child', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D002675', 'descriptor_name': 'Child, Preschool', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D015331', 'descriptor_name': 'Cohort Studies', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D024141', 'descriptor_name': 'Collagen Type IV', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D024141', 'descriptor_name': 'Collagen Type IV', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D004252', 'descriptor_name': 'DNA Mutational Analysis', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D005192', 'descriptor_name': 'Family Health', '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': 'D005817', 'descriptor_name': 'Genetic Counseling', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D006579', 'descriptor_name': 'Heterozygote', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D059014', 'descriptor_name': 'High-Throughput Nucleotide Sequencing', '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': 'D009394', 'descriptor_name': 'Nephritis, Hereditary', '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': 'D020641', 'descriptor_name': 'Polymorphism, Single Nucleotide', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D055815', 'descriptor_name': 'Young Adult', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}], 'locations_count': 4, 'locations': [{'is_oa': True, 'landing_page_url': 'https://doi.org/10.1681/asn.2013080912', 'pdf_url': 'https://jasn.asnjournals.org/content/jnephrol/25/12/2740.full.pdf', 'source': {'id': 'https://openalex.org/S115693375', 'display_name': 'Journal of the American Society of Nephrology', 'issn_l': '1046-6673', 'issn': ['1046-6673', '1533-3450'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310315620', 'host_organization_name': 'American Society of Nephrology', 'host_organization_lineage': ['https://openalex.org/P4310315620'], 'host_organization_lineage_names': ['American Society of Nephrology'], '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/pmc4243343', 'pdf_url': None, '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/PMC4243343', '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/24854265', '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/10.1681/asn.2013080912', 'pdf_url': 'https://jasn.asnjournals.org/content/jnephrol/25/12/2740.full.pdf', 'source': {'id': 'https://openalex.org/S115693375', 'display_name': 'Journal of the American Society of Nephrology', 'issn_l': '1046-6673', 'issn': ['1046-6673', '1533-3450'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310315620', 'host_organization_name': 'American Society of Nephrology', 'host_organization_lineage': ['https://openalex.org/P4310315620'], 'host_organization_lineage_names': ['American Society of Nephrology'], 'type': 'journal'}, 'license': None, 'license_id': None, 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, 'sustainable_development_goals': [{'score': 0.61, 'id': 'https://metadata.un.org/sdg/3', 'display_name': 'Good health and well-being'}], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 40, 'referenced_works': ['https://openalex.org/W1887057792', 'https://openalex.org/W1964821165', 'https://openalex.org/W1972022046', 'https://openalex.org/W1976863464', 'https://openalex.org/W1979044332', 'https://openalex.org/W1995101722', 'https://openalex.org/W2002983130', 'https://openalex.org/W2017787965', 'https://openalex.org/W2021341670', 'https://openalex.org/W2022463109', 'https://openalex.org/W2045037802', 'https://openalex.org/W2048584442', 'https://openalex.org/W2053667192', 'https://openalex.org/W2058691614', 'https://openalex.org/W2062754358', 'https://openalex.org/W2065712775', 'https://openalex.org/W2071844844', 'https://openalex.org/W2073640525', 'https://openalex.org/W2080203995', 'https://openalex.org/W2080987838', 'https://openalex.org/W2082040315', 'https://openalex.org/W2084341903', 'https://openalex.org/W2094608156', 'https://openalex.org/W2095091835', 'https://openalex.org/W2096453305', 'https://openalex.org/W2098207011', 'https://openalex.org/W2105964625', 'https://openalex.org/W2106091175', 'https://openalex.org/W2106438012', 'https://openalex.org/W2116444145', 'https://openalex.org/W2118068438', 'https://openalex.org/W2119619243', 'https://openalex.org/W2124474152', 'https://openalex.org/W2125903388', 'https://openalex.org/W2128796050', 'https://openalex.org/W2132123037', 'https://openalex.org/W2137004584', 'https://openalex.org/W2138025953', 'https://openalex.org/W2169992994', 'https://openalex.org/W4211015908'], 'related_works': ['https://openalex.org/W3155789666', 'https://openalex.org/W3011357560', 'https://openalex.org/W2975723627', 'https://openalex.org/W2947195574', 'https://openalex.org/W2883352634', 'https://openalex.org/W2805859037', 'https://openalex.org/W2568725330', 'https://openalex.org/W2403609377', 'https://openalex.org/W2041066325', 'https://openalex.org/W1963926818'], 'abstract_inverted_index': {'Alport': [0, 184, 227], 'syndrome': [1, 185], 'is': [2, 70, 211], 'an': [3], 'inherited': [4], 'nephropathy': [5], 'associated': [6, 25, 40], 'with': [7, 26, 41, 131, 162], 'mutations': [8, 23, 38, 101, 117, 142, 170], 'in': [9, 17, 51, 94, 111, 164, 171, 226], 'genes': [10, 69, 93, 148], 'encoding': [11], 'type': [12], 'IV': [13], 'collagen': [14], 'chains': [15], 'present': [16], 'the': [18, 27, 32, 56, 132, 146, 154, 179, 196, 220], 'glomerular': [19], 'basement': [20], 'membrane.': [21], 'COL4A5': [22], 'are': [24, 39], 'major': [28], 'X-linked': [29], 'form': [30], 'of': [31, 55, 65, 80, 91, 105, 156, 169, 183, 198, 222], 'disease,': [33], 'and': [34, 36, 44, 53, 59, 72, 85, 102, 173, 178, 201, 216, 218], 'COL4A3': [35, 172, 200], 'COL4A4': [37, 174, 202], 'autosomal': [42, 180], 'recessive': [43], 'dominant': [45, 181], 'forms': [46, 182], '(thought': [47], 'to': [48], 'be': [49, 160], 'involved': [50], '15%': [52], '1%–5%': [54], 'families,': [57], 'respectively)': [58], 'benign': [60], 'familial': [61], 'hematuria.': [62], 'Mutation': [63], 'screening': [64, 214], 'these': [66], 'three': [67, 92, 147], 'large': [68, 199], 'time-consuming': [71], 'expensive.': [73], 'Here,': [74], 'we': [75], 'carried': [76], 'out': [77], 'a': [78], 'combination': [79], 'multiplex': [81], 'PCR,': [82], 'amplicon': [83], 'quantification,': [84], 'next': [86], 'generation': [87], 'sequencing': [88], '(NGS)': [89], 'analysis': [90], '101': [95], 'unrelated': [96], 'patients.': [97, 113], 'We': [98, 207], 'identified': [99, 129], '88': [100], '6': [103], 'variations': [104], 'unknown': [106], 'significance': [107], 'on': [108], '116': [109], 'alleles': [110], '83': [112], 'Two': [114], 'additional': [115], 'indel': [116], 'were': [118, 127, 143], 'found': [119], 'only': [120], 'by': [121], 'secondary': [122], 'Sanger': [123], 'sequencing,': [124], 'but': [125], 'they': [126], 'easily': [128], 'retrospectively': [130], 'web-based': [133], 'sequence': [134], 'visualization': [135], 'tool': [136], 'Integrative': [137], 'Genomics': [138], 'Viewer.': [139], 'Altogether,': [140], '75': [141], 'novel.': [144], 'Sequencing': [145], 'simultaneously': [149], 'was': [150, 175], 'particularly': [151], 'advantageous': [152], 'as': [153], 'mode': [155], 'inheritance': [157], 'could': [158], 'not': [159, 204], 'determined': [161], 'certainty': [163], 'many': [165], 'instances.': [166], 'The': [167], 'proportion': [168], 'notably': [176], 'high,': [177], 'appear': [186], 'more': [187], 'frequently': [188], 'than': [189], 'reported': [190], 'previously.': [191, 206], 'Finally,': [192], 'this': [193], 'approach': [194], 'allowed': [195], 'identification': [197], 'rearrangements': [203], 'described': [205], 'conclude': [208], 'that': [209], 'NGS': [210], 'efficient,': [212], 'reduces': [213], 'time': [215], 'cost,': [217], 'facilitates': [219], 'provision': [221], 'appropriate': [223], 'genetic': [224], 'counseling': [225], 'syndrome.': [228]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W2101590985', 'counts_by_year': [{'year': 2024, 'cited_by_count': 7}, {'year': 2023, 'cited_by_count': 14}, {'year': 2022, 'cited_by_count': 18}, {'year': 2021, 'cited_by_count': 23}, {'year': 2020, 'cited_by_count': 17}, {'year': 2019, 'cited_by_count': 11}, {'year': 2018, 'cited_by_count': 15}, {'year': 2017, 'cited_by_count': 14}, {'year': 2016, 'cited_by_count': 9}, {'year': 2015, 'cited_by_count': 9}, {'year': 2014, 'cited_by_count': 5}], 'updated_date': '2024-09-15T21:17:50.439204', 'created_date': '2016-06-24'}