Publication Information

{'id': 'https://openalex.org/W2152762493', 'doi': 'https://doi.org/10.1034/j.1600-0625.2002.110511.x', 'title': 'Paternal germline mosaicism in Herlitz junctional epidermolysis bullosa', 'display_name': 'Paternal germline mosaicism in Herlitz junctional epidermolysis bullosa', 'publication_year': 2002, 'publication_date': '2002-10-01', 'ids': {'openalex': 'https://openalex.org/W2152762493', 'doi': 'https://doi.org/10.1034/j.1600-0625.2002.110511.x', 'mag': '2152762493', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/12366701'}, 'language': 'en', 'primary_location': {'is_oa': False, 'landing_page_url': 'https://doi.org/10.1034/j.1600-0625.2002.110511.x', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S158010168', 'display_name': 'Experimental Dermatology', 'issn_l': '0906-6705', 'issn': ['0906-6705', '1600-0625'], 'is_oa': False, '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': None, 'is_accepted': False, 'is_published': False}, 'type': 'article', 'type_crossref': 'journal-article', 'indexed_in': ['crossref', 'pubmed'], 'open_access': {'is_oa': False, 'oa_status': 'closed', 'oa_url': None, 'any_repository_has_fulltext': False}, 'authorships': [{'author_position': 'first', 'author': {'id': 'https://openalex.org/A5006491123', 'display_name': 'P. B. Cserhalmi‐Friedman', 'orcid': None}, 'institutions': [], 'countries': [], 'is_corresponding': False, 'raw_author_name': 'Peter B. Cserhalmi‐Friedman', 'raw_affiliation_strings': ['Departments of Dermatology,'], 'affiliations': [{'raw_affiliation_string': 'Departments of Dermatology,', 'institution_ids': []}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5009637115', 'display_name': 'Kwame Anyane‐Yeboa', 'orcid': 'https://orcid.org/0000-0002-4977-9719'}, 'institutions': [{'id': 'https://openalex.org/I78577930', 'display_name': 'Columbia University', 'ror': 'https://ror.org/00hj8s172', 'country_code': 'US', 'type': 'education', 'lineage': ['https://openalex.org/I78577930']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Kwame Anyane‐Yeboa', 'raw_affiliation_strings': ['Pediatrics, Division of Clinical Genetics, College of Physicians and Surgeons, Columbia University, New York, NY'], 'affiliations': [{'raw_affiliation_string': 'Pediatrics, Division of Clinical Genetics, College of Physicians and Surgeons, Columbia University, New York, NY', 'institution_ids': ['https://openalex.org/I78577930']}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5044490713', 'display_name': 'Angela M. Christiano', 'orcid': 'https://orcid.org/0000-0002-6071-9784'}, 'institutions': [{'id': 'https://openalex.org/I4210118410', 'display_name': 'Institut thématique Génétique, génomique et bioinformatique', 'ror': 'https://ror.org/01rfstj90', 'country_code': 'FR', 'type': 'government', 'lineage': ['https://openalex.org/I154526488', 'https://openalex.org/I4210118410']}], 'countries': ['FR'], 'is_corresponding': False, 'raw_author_name': 'Angela M. Christiano', 'raw_affiliation_strings': ['Departments of Dermatology,', 'Genetics and Development, and'], 'affiliations': [{'raw_affiliation_string': 'Genetics and Development, and', 'institution_ids': ['https://openalex.org/I4210118410']}, {'raw_affiliation_string': 'Departments of Dermatology,', 'institution_ids': []}]}], 'institution_assertions': [], 'countries_distinct_count': 2, 'institutions_distinct_count': 2, 'corresponding_author_ids': [], 'corresponding_institution_ids': [], 'apc_list': {'value': 4740, 'currency': 'USD', 'value_usd': 4740, 'provenance': 'doaj'}, 'apc_paid': None, 'fwci': 0.754, 'has_fulltext': True, 'fulltext_origin': 'ngrams', 'cited_by_count': 23, 'citation_normalized_percentile': {'value': 0.626478, 'is_in_top_1_percent': False, 'is_in_top_10_percent': False}, 'cited_by_percentile_year': {'min': 86, 'max': 87}, 'biblio': {'volume': '11', 'issue': '5', 'first_page': '468', 'last_page': '470'}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T11650', 'display_name': 'Biology and Pathology of Keratins and Related Disorders', 'score': 0.9999, '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'}}, 'topics': [{'id': 'https://openalex.org/T11650', 'display_name': 'Biology and Pathology of Keratins and Related Disorders', 'score': 0.9999, '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'}}, {'id': 'https://openalex.org/T10929', 'display_name': 'Wnt Signaling in Development and Disease', 'score': 0.9882, '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/T12924', 'display_name': 'Genetic Disorders Causing Tissue Mineralization Abnormalities', 'score': 0.9868, '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'}}], 'keywords': [{'id': 'https://openalex.org/keywords/germline-mosaicism', 'display_name': 'Germline mosaicism', 'score': 0.88114023}, {'id': 'https://openalex.org/keywords/nonsense-mutation', 'display_name': 'Nonsense mutation', 'score': 0.6509855}, {'id': 'https://openalex.org/keywords/proband', 'display_name': 'Proband', 'score': 0.63556755}, {'id': 'https://openalex.org/keywords/epidermolysis-bullosa', 'display_name': 'Epidermolysis Bullosa', 'score': 0.50644}], 'concepts': [{'id': 'https://openalex.org/C48720390', 'wikidata': 'https://www.wikidata.org/wiki/Q5552250', 'display_name': 'Germline mosaicism', 'level': 4, 'score': 0.88114023}, {'id': 'https://openalex.org/C2780377952', 'wikidata': 'https://www.wikidata.org/wiki/Q6311810', 'display_name': 'Junctional epidermolysis bullosa (veterinary medicine)', 'level': 4, 'score': 0.73558915}, {'id': 'https://openalex.org/C2781207856', 'wikidata': 'https://www.wikidata.org/wiki/Q923020', 'display_name': 'Epidermolysis bullosa', 'level': 2, 'score': 0.73420143}, {'id': 'https://openalex.org/C109825262', 'wikidata': 'https://www.wikidata.org/wiki/Q1139164', 'display_name': 'Germline', 'level': 3, 'score': 0.68889207}, {'id': 'https://openalex.org/C54355233', 'wikidata': 'https://www.wikidata.org/wiki/Q7162', 'display_name': 'Genetics', 'level': 1, 'score': 0.68410903}, {'id': 'https://openalex.org/C13514818', 'wikidata': 'https://www.wikidata.org/wiki/Q5552256', 'display_name': 'Germline mutation', 'level': 4, 'score': 0.6765243}, {'id': 'https://openalex.org/C96777560', 'wikidata': 'https://www.wikidata.org/wiki/Q518638', 'display_name': 'Nonsense mutation', 'level': 5, 'score': 0.6509855}, {'id': 'https://openalex.org/C188997412', 'wikidata': 'https://www.wikidata.org/wiki/Q1640386', 'display_name': 'Proband', 'level': 4, 'score': 0.63556755}, {'id': 'https://openalex.org/C501734568', 'wikidata': 'https://www.wikidata.org/wiki/Q42918', 'display_name': 'Mutation', 'level': 3, 'score': 0.51024103}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.4978335}, {'id': 'https://openalex.org/C80227256', 'wikidata': 'https://www.wikidata.org/wiki/Q1124169', 'display_name': 'Genetic counseling', 'level': 2, 'score': 0.477992}, {'id': 'https://openalex.org/C75563809', 'wikidata': 'https://www.wikidata.org/wiki/Q2656896', 'display_name': 'Missense mutation', 'level': 4, 'score': 0.27989137}, {'id': 'https://openalex.org/C104317684', 'wikidata': 'https://www.wikidata.org/wiki/Q7187', 'display_name': 'Gene', 'level': 2, 'score': 0.17596552}], 'mesh': [{'descriptor_ui': 'D016109', 'descriptor_name': 'Epidermolysis Bullosa, Junctional', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D018095', 'descriptor_name': 'Germ-Line Mutation', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D009030', 'descriptor_name': 'Mosaicism', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D016109', 'descriptor_name': 'Epidermolysis Bullosa, Junctional', 'qualifier_ui': 'Q000175', 'qualifier_name': 'diagnosis', 'is_major_topic': False}, {'descriptor_ui': 'D016109', 'descriptor_name': 'Epidermolysis Bullosa, Junctional', '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': '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': 'D017354', 'descriptor_name': 'Point Mutation', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D011247', 'descriptor_name': 'Pregnancy', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D011296', 'descriptor_name': 'Prenatal Diagnosis', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D017384', 'descriptor_name': 'Sequence Deletion', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}], 'locations_count': 2, 'locations': [{'is_oa': False, 'landing_page_url': 'https://doi.org/10.1034/j.1600-0625.2002.110511.x', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S158010168', 'display_name': 'Experimental Dermatology', 'issn_l': '0906-6705', 'issn': ['0906-6705', '1600-0625'], 'is_oa': False, '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': None, 'is_accepted': False, 'is_published': False}, {'is_oa': False, 'landing_page_url': 'https://pubmed.ncbi.nlm.nih.gov/12366701', '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': None, 'sustainable_development_goals': [{'display_name': 'Good health and well-being', 'id': 'https://metadata.un.org/sdg/3', 'score': 0.82}], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 8, 'referenced_works': ['https://openalex.org/W1602484235', 'https://openalex.org/W1639755981', 'https://openalex.org/W1976537996', 'https://openalex.org/W2111909780', 'https://openalex.org/W2168654245', 'https://openalex.org/W230396661', 'https://openalex.org/W2316509129', 'https://openalex.org/W2418465768'], 'related_works': ['https://openalex.org/W4321482833', 'https://openalex.org/W4309573033', 'https://openalex.org/W4205481836', 'https://openalex.org/W4200049693', 'https://openalex.org/W2415476899', 'https://openalex.org/W2413513791', 'https://openalex.org/W2395307855', 'https://openalex.org/W2243912458', 'https://openalex.org/W2096324381', 'https://openalex.org/W1989599290'], 'abstract_inverted_index': {'We': [0], 'studied': [1], 'a': [2, 33, 101, 115, 162, 192, 204, 213], 'single': [3, 42], 'patient': [4, 24], 'with': [5, 149], 'the': [6, 19, 23, 26, 50, 55, 64, 89, 93, 98, 120, 131, 134, 140, 154, 166, 178, 210], 'lethal': [7], '(Herlitz)': [8], 'type': [9], 'of': [10, 68, 100, 182, 212], 'junctional': [11, 186], 'epidermolysis': [12, 187], 'bullosa': [13], '(H-JEB).': [14], 'Screening': [15], 'for': [16, 114, 153], 'mutations': [17], 'in': [18, 22, 38, 49, 63, 92, 128, 139, 169, 185, 200, 202, 209], 'LAMB3': [20], 'gene': [21], 'revealed': [25], 'previously': [27], 'described': [28], 'hotspot': [29], 'mutation': [30, 57, 90, 122, 135, 156, 206], 'R635X': [31, 58, 91, 136], 'and': [32, 84, 118, 189], 'novel': [34], 'one': [35], 'basepair': [36, 43], 'deletion': [37, 44], 'exon': [39], '10.': [40], 'The': [41, 109, 158], '1094delA': [45, 123], 'could': [46, 59, 124], 'be': [47, 61, 126, 198], 'detected': [48, 127], 'clinically': [51, 214], 'unaffected': [52, 217], 'mother,': [53], 'while': [54, 119], 'nonsense': [56], 'not': [60, 125], 'found': [62, 208], 'peripheral': [65], 'blood': [66], 'DNA': [67, 129], 'either': [69], 'parent.': [70, 218], 'After': [71], 'excluding': [72], 'non-paternity': [73], 'by': [74], 'microsatellite': [75], 'analysis': [76], 'using': [77], 'random': [78], 'markers': [79], 'on': [80, 165], 'chromosomes': [81], '3,': [82], '8': [83], '18,': [85], 'we': [86], 'determined': [87], 'that': [88, 194], 'proband': [94], 'was': [95, 137], 'most': [96, 147], 'likely': [97], 'result': [99], 'de': [102], 'novo': [103], 'event': [104], 'or': [105], 'alternatively,': [106], 'germline': [107, 151, 183, 195], 'mosaicism.': [108], 'parents': [110], 'requested': [111], 'prenatal': [112], 'diagnosis': [113], 'second': [116], 'pregnancy,': [117], 'maternal': [121], 'from': [130], 'fetus,': [132], 'unexpectedly,': [133], 'present': [138], 'chorionic': [141], 'villus': [142], 'DNA.': [143], 'These': [144], 'findings': [145], 'were': [146], 'consistent': [148], 'paternal': [150], 'mosaicism': [152, 184, 196], 'recessive': [155], 'R635X.': [157], 'results': [159], 'have': [160], 'had': [161], 'significant': [163], 'impact': [164], 'genetic': [167], 'counseling': [168], 'this': [170, 175], 'family.': [171], 'To': [172], 'our': [173], 'knowledge,': [174], 'study': [176], 'represents': [177], 'first': [179], 'documented': [180], 'case': [181], 'bullosa,': [188], 'serves': [190], 'as': [191], 'reminder': [193], 'should': [197], 'considered': [199], 'cases': [201], 'which': [203], "'new'": [205], 'is': [207], 'offspring': [211], 'and/or': [215], 'genetically': [216]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W2152762493', 'counts_by_year': [{'year': 2022, 'cited_by_count': 1}, {'year': 2021, 'cited_by_count': 3}, {'year': 2017, 'cited_by_count': 1}, {'year': 2016, 'cited_by_count': 1}, {'year': 2015, 'cited_by_count': 3}, {'year': 2014, 'cited_by_count': 1}, {'year': 2013, 'cited_by_count': 1}, {'year': 2012, 'cited_by_count': 1}], 'updated_date': '2024-09-23T17:28:48.671075', 'created_date': '2016-06-24'}