Publication Information

{'id': 'https://openalex.org/W2739583036', 'doi': 'https://doi.org/10.1002/ajmg.1320530417', 'title': 'Fragile X screening: What is the real issue?', 'display_name': 'Fragile X screening: What is the real issue?', 'publication_year': 1994, 'publication_date': '1994-12-01', 'ids': {'openalex': 'https://openalex.org/W2739583036', 'doi': 'https://doi.org/10.1002/ajmg.1320530417', 'mag': '2739583036', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/7864051'}, 'language': 'en', 'primary_location': {'is_oa': False, 'landing_page_url': 'https://doi.org/10.1002/ajmg.1320530417', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S4210224978', 'display_name': 'American Journal of Medical Genetics', 'issn_l': '0148-7299', 'issn': ['0148-7299', '1096-8628'], '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': 'letter', '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/A5004249329', 'display_name': 'Patricia N. Howard‐Peebles', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I72019824', 'display_name': 'Virginia Commonwealth University Medical Center', 'ror': 'https://ror.org/057xmsr27', 'country_code': 'US', 'type': 'healthcare', 'lineage': ['https://openalex.org/I72019824']}, {'id': 'https://openalex.org/I139821560', 'display_name': 'Genetics and IVF Institute', 'ror': 'https://ror.org/01c20ew23', 'country_code': 'US', 'type': 'facility', 'lineage': ['https://openalex.org/I139821560']}], 'countries': ['US'], 'is_corresponding': True, 'raw_author_name': 'Patricia N. Howard‐Peebles', 'raw_affiliation_strings': ['Genetics & IVF Institute Fairfax Medical College of Virginia Richmond, Virginia'], 'affiliations': [{'raw_affiliation_string': 'Genetics & IVF Institute Fairfax Medical College of Virginia Richmond, Virginia', 'institution_ids': ['https://openalex.org/I72019824', 'https://openalex.org/I139821560']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5110089743', 'display_name': 'Anne Maddalena', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I139821560', 'display_name': 'Genetics and IVF Institute', 'ror': 'https://ror.org/01c20ew23', 'country_code': 'US', 'type': 'facility', 'lineage': ['https://openalex.org/I139821560']}, {'id': 'https://openalex.org/I72019824', 'display_name': 'Virginia Commonwealth University Medical Center', 'ror': 'https://ror.org/057xmsr27', 'country_code': 'US', 'type': 'healthcare', 'lineage': ['https://openalex.org/I72019824']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Anne Maddalena', 'raw_affiliation_strings': ['Genetics & IVF Institute Fairfax Medical College of Virginia Richmond, Virginia'], 'affiliations': [{'raw_affiliation_string': 'Genetics & IVF Institute Fairfax Medical College of Virginia Richmond, Virginia', 'institution_ids': ['https://openalex.org/I139821560', 'https://openalex.org/I72019824']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5108623248', 'display_name': 'W. Christine Spence', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I139821560', 'display_name': 'Genetics and IVF Institute', 'ror': 'https://ror.org/01c20ew23', 'country_code': 'US', 'type': 'facility', 'lineage': ['https://openalex.org/I139821560']}, {'id': 'https://openalex.org/I72019824', 'display_name': 'Virginia Commonwealth University Medical Center', 'ror': 'https://ror.org/057xmsr27', 'country_code': 'US', 'type': 'healthcare', 'lineage': ['https://openalex.org/I72019824']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'W. Christine Spence', 'raw_affiliation_strings': ['Genetics & IVF Institute Fairfax Medical College of Virginia Richmond, Virginia'], 'affiliations': [{'raw_affiliation_string': 'Genetics & IVF Institute Fairfax Medical College of Virginia Richmond, Virginia', 'institution_ids': ['https://openalex.org/I139821560', 'https://openalex.org/I72019824']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5008511016', 'display_name': 'Gene Levinson', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I139821560', 'display_name': 'Genetics and IVF Institute', 'ror': 'https://ror.org/01c20ew23', 'country_code': 'US', 'type': 'facility', 'lineage': ['https://openalex.org/I139821560']}, {'id': 'https://openalex.org/I72019824', 'display_name': 'Virginia Commonwealth University Medical Center', 'ror': 'https://ror.org/057xmsr27', 'country_code': 'US', 'type': 'healthcare', 'lineage': ['https://openalex.org/I72019824']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Gene Levinson', 'raw_affiliation_strings': ['Genetics & IVF Institute Fairfax Medical College of Virginia Richmond, Virginia'], 'affiliations': [{'raw_affiliation_string': 'Genetics & IVF Institute Fairfax Medical College of Virginia Richmond, Virginia', 'institution_ids': ['https://openalex.org/I139821560', 'https://openalex.org/I72019824']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5108638193', 'display_name': 'Lee Fallon', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I139821560', 'display_name': 'Genetics and IVF Institute', 'ror': 'https://ror.org/01c20ew23', 'country_code': 'US', 'type': 'facility', 'lineage': ['https://openalex.org/I139821560']}, {'id': 'https://openalex.org/I72019824', 'display_name': 'Virginia Commonwealth University Medical Center', 'ror': 'https://ror.org/057xmsr27', 'country_code': 'US', 'type': 'healthcare', 'lineage': ['https://openalex.org/I72019824']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Lee Fallon', 'raw_affiliation_strings': ['Genetics & IVF Institute Fairfax Medical College of Virginia Richmond, Virginia'], 'affiliations': [{'raw_affiliation_string': 'Genetics & IVF Institute Fairfax Medical College of Virginia Richmond, Virginia', 'institution_ids': ['https://openalex.org/I139821560', 'https://openalex.org/I72019824']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5051040365', 'display_name': 'David Bick', 'orcid': 'https://orcid.org/0000-0002-8750-306X'}, 'institutions': [{'id': 'https://openalex.org/I139821560', 'display_name': 'Genetics and IVF Institute', 'ror': 'https://ror.org/01c20ew23', 'country_code': 'US', 'type': 'facility', 'lineage': ['https://openalex.org/I139821560']}, {'id': 'https://openalex.org/I72019824', 'display_name': 'Virginia Commonwealth University Medical Center', 'ror': 'https://ror.org/057xmsr27', 'country_code': 'US', 'type': 'healthcare', 'lineage': ['https://openalex.org/I72019824']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'David P. Bick', 'raw_affiliation_strings': ['Genetics & IVF Institute Fairfax Medical College of Virginia Richmond, Virginia'], 'affiliations': [{'raw_affiliation_string': 'Genetics & IVF Institute Fairfax Medical College of Virginia Richmond, Virginia', 'institution_ids': ['https://openalex.org/I139821560', 'https://openalex.org/I72019824']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5088717751', 'display_name': 'Susan H. Black', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I139821560', 'display_name': 'Genetics and IVF Institute', 'ror': 'https://ror.org/01c20ew23', 'country_code': 'US', 'type': 'facility', 'lineage': ['https://openalex.org/I139821560']}, {'id': 'https://openalex.org/I72019824', 'display_name': 'Virginia Commonwealth University Medical Center', 'ror': 'https://ror.org/057xmsr27', 'country_code': 'US', 'type': 'healthcare', 'lineage': ['https://openalex.org/I72019824']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Susan H. Black', 'raw_affiliation_strings': ['Genetics & IVF Institute Fairfax Medical College of Virginia Richmond, Virginia'], 'affiliations': [{'raw_affiliation_string': 'Genetics & IVF Institute Fairfax Medical College of Virginia Richmond, Virginia', 'institution_ids': ['https://openalex.org/I139821560', 'https://openalex.org/I72019824']}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5032952741', 'display_name': 'Joseph D. Schulman', 'orcid': 'https://orcid.org/0000-0002-8560-3972'}, 'institutions': [{'id': 'https://openalex.org/I139821560', 'display_name': 'Genetics and IVF Institute', 'ror': 'https://ror.org/01c20ew23', 'country_code': 'US', 'type': 'facility', 'lineage': ['https://openalex.org/I139821560']}, {'id': 'https://openalex.org/I72019824', 'display_name': 'Virginia Commonwealth University Medical Center', 'ror': 'https://ror.org/057xmsr27', 'country_code': 'US', 'type': 'healthcare', 'lineage': ['https://openalex.org/I72019824']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Joseph D. Schulman', 'raw_affiliation_strings': ['Genetics & IVF Institute Fairfax Medical College of Virginia Richmond, Virginia'], 'affiliations': [{'raw_affiliation_string': 'Genetics & IVF Institute Fairfax Medical College of Virginia Richmond, Virginia', 'institution_ids': ['https://openalex.org/I139821560', 'https://openalex.org/I72019824']}]}], 'institution_assertions': [], 'countries_distinct_count': 1, 'institutions_distinct_count': 2, 'corresponding_author_ids': ['https://openalex.org/A5004249329'], 'corresponding_institution_ids': ['https://openalex.org/I72019824', 'https://openalex.org/I139821560'], 'apc_list': None, 'apc_paid': None, 'fwci': None, 'has_fulltext': False, 'cited_by_count': 7, 'citation_normalized_percentile': {'value': 0.496109, 'is_in_top_1_percent': False, 'is_in_top_10_percent': False}, 'cited_by_percentile_year': {'min': 74, 'max': 75}, 'biblio': {'volume': '53', 'issue': '4', 'first_page': '382', 'last_page': '382'}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T11772', 'display_name': 'Genetics and Neurodevelopmental Disorders', 'score': 0.9994, 'subfield': {'id': 'https://openalex.org/subfields/1311', 'display_name': 'Genetics'}, 'field': {'id': 'https://openalex.org/fields/13', 'display_name': 'Biochemistry, Genetics and Molecular Biology'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}, 'topics': [{'id': 'https://openalex.org/T11772', 'display_name': 'Genetics and Neurodevelopmental Disorders', 'score': 0.9994, '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/T11677', 'display_name': 'Congenital heart defects research', 'score': 0.9009, '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': [{'id': 'https://openalex.org/keywords/medical-genetics', 'display_name': 'Medical genetics', 'score': 0.57610697}], 'concepts': [{'id': 'https://openalex.org/C64474127', 'wikidata': 'https://www.wikidata.org/wiki/Q1071953', 'display_name': 'Medical genetics', 'level': 3, 'score': 0.57610697}, {'id': 'https://openalex.org/C71924100', 'wikidata': 'https://www.wikidata.org/wiki/Q11190', 'display_name': 'Medicine', 'level': 0, 'score': 0.39195174}, {'id': 'https://openalex.org/C161191863', 'wikidata': 'https://www.wikidata.org/wiki/Q199655', 'display_name': 'Library science', 'level': 1, 'score': 0.3703755}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.17958254}, {'id': 'https://openalex.org/C54355233', 'wikidata': 'https://www.wikidata.org/wiki/Q7162', 'display_name': 'Genetics', 'level': 1, 'score': 0.13662526}, {'id': 'https://openalex.org/C41008148', 'wikidata': 'https://www.wikidata.org/wiki/Q21198', 'display_name': 'Computer science', 'level': 0, 'score': 0.0}, {'id': 'https://openalex.org/C104317684', 'wikidata': 'https://www.wikidata.org/wiki/Q7187', 'display_name': 'Gene', 'level': 2, 'score': 0.0}], 'mesh': [{'descriptor_ui': 'D005600', 'descriptor_name': 'Fragile X Syndrome', 'qualifier_ui': 'Q000175', 'qualifier_name': 'diagnosis', 'is_major_topic': True}, {'descriptor_ui': 'D011296', 'descriptor_name': 'Prenatal Diagnosis', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D005260', 'descriptor_name': 'Female', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D005600', 'descriptor_name': 'Fragile X Syndrome', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D005600', 'descriptor_name': 'Fragile X Syndrome', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D006580', 'descriptor_name': 'Genetic Carrier Screening', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D006801', 'descriptor_name': 'Humans', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}], 'locations_count': 2, 'locations': [{'is_oa': False, 'landing_page_url': 'https://doi.org/10.1002/ajmg.1320530417', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S4210224978', 'display_name': 'American Journal of Medical Genetics', 'issn_l': '0148-7299', 'issn': ['0148-7299', '1096-8628'], '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/7864051', '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': [], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 1, 'referenced_works': ['https://openalex.org/W2132886891'], 'related_works': ['https://openalex.org/W3108674512', 'https://openalex.org/W3032375762', 'https://openalex.org/W3031052312', 'https://openalex.org/W2899084033', 'https://openalex.org/W2748952813', 'https://openalex.org/W2604872355', 'https://openalex.org/W2080531066', 'https://openalex.org/W2048182022', 'https://openalex.org/W1995515455', 'https://openalex.org/W1506200166'], 'abstract_inverted_index': {'American': [0], 'Journal': [1], 'of': [2, 39, 68, 90, 110, 130, 152, 174, 196, 223, 252, 274, 294, 314, 336, 358, 380, 416, 426, 439, 450], 'Medical': [3, 37, 66, 88, 108, 128, 150, 172, 194, 221, 250, 272, 292, 312, 334, 356, 378], 'GeneticsVolume': [4], '53,': [5], 'Issue': [6], '4': [7], 'p.': [8], '382-382': [9, 478], 'Letter': [10], 'to': [11, 400, 422, 445], 'the': [12, 19, 432, 442], 'Editor': [13], 'Fragile': [14], 'X': [15], 'screening:': [16], 'What': [17], 'is': [18, 468], 'real': [20], 'issue?': [21], 'Dr.': [22, 28, 206, 212], 'Patricia': [23, 29, 207, 213], 'N.': [24, 30, 208, 214], 'Howard-Peebles,': [25, 209], 'Corresponding': [26, 210], 'Author': [27, 211], 'Howard-Peebles': [31, 215], 'Genetics': [32, 61, 83, 103, 123, 145, 167, 189, 216, 245, 267, 287, 307, 329, 351, 373], '&': [33, 43, 62, 84, 104, 124, 146, 168, 190, 217, 227, 246, 268, 288, 308, 330, 352, 374], 'IVF': [34, 44, 63, 85, 105, 125, 147, 169, 191, 218, 228, 247, 269, 289, 309, 331, 353, 375], 'Institute': [35, 64, 86, 106, 126, 148, 170, 192, 219, 248, 270, 290, 310, 332, 354, 376], 'Fairfax': [36, 65, 87, 107, 127, 149, 171, 193, 220, 249, 271, 291, 311, 333, 355, 377], 'College': [38, 67, 89, 109, 129, 151, 173, 195, 222, 251, 273, 293, 313, 335, 357, 379], 'Virginia': [40, 69, 91, 111, 131, 153, 175, 197, 224, 253, 275, 295, 315, 337, 359, 381], 'Richmond,': [41, 70, 92, 112, 132, 154, 176, 198, 225, 254, 276, 296, 316, 338, 360, 382], 'VirginiaGenetics': [42, 226], 'Institute,': [45, 229], '3022': [46, 230], 'Javier': [47, 231], 'Road.': [48, 232], 'Fairfax,': [49, 233], 'VA': [50, 234], '22031Search': [51, 235], 'for': [52, 72, 94, 114, 134, 156, 178, 200, 236, 256, 278, 298, 318, 340, 362, 384, 470], 'more': [53, 73, 95, 115, 135, 157, 179, 201, 237, 257, 279, 299, 319, 341, 363, 385], 'papers': [54, 74, 96, 116, 136, 158, 180, 202, 238, 258, 280, 300, 320, 342, 364, 386], 'by': [55, 75, 97, 117, 137, 159, 181, 203, 239, 259, 281, 301, 321, 343, 365, 387], 'this': [56, 76, 98, 118, 138, 160, 182, 204, 240, 260, 282, 302, 322, 344, 366, 388, 451, 471], 'authorAnne': [57, 241], 'Maddalena,': [58, 242], 'Anne': [59, 243], 'Maddalena': [60, 244], 'VirginiaSearch': [71, 93, 113, 133, 155, 177, 199, 255, 277, 297, 317, 339, 361, 383], 'authorW.': [77, 261], 'Christine': [78, 81, 262, 265], 'Spence,': [79, 263], 'W.': [80, 264], 'Spence': [82, 266], 'authorGene': [99, 283], 'Levinson,': [100, 284], 'Gene': [101, 285], 'Levinson': [102, 286], 'authorLee': [119, 303], 'Fallon,': [120, 304], 'Lee': [121, 305], 'Fallon': [122, 306], 'authorDavid': [139, 323], 'P.': [140, 143, 324, 327], 'Bick,': [141, 325], 'David': [142, 326], 'Bick': [144, 328], 'authorSusan': [161, 345], 'H.': [162, 165, 346, 349], 'Black,': [163, 347], 'Susan': [164, 348], 'Black': [166, 350], 'authorJoseph': [183, 367], 'D.': [184, 187, 368, 371], 'Schulman,': [185, 369], 'Joseph': [186, 370], 'Schulman': [188, 372], 'author': [205, 389], 'First': [390], 'published:': [391], '1': [392], 'December': [393, 476], '1994': [394], 'https://doi.org/10.1002/ajmg.1320530417Citations:': [395], '7AboutPDF': [396], 'ToolsRequest': [397], 'permissionExport': [398], 'citationAdd': [399], 'favoritesTrack': [401], 'citation': [402], 'ShareShare': [403], 'Give': [404], 'accessShare': [405, 408], 'full': [406], 'text': [407], 'full-text': [409, 424, 448], 'accessPlease': [410], 'review': [411], 'our': [412], 'Terms': [413, 436], 'and': [414, 418, 430, 437, 456], 'Conditions': [415, 438], 'Use': [417], 'check': [419], 'box': [420], 'below': [421, 444], 'share': [423, 446], 'version': [425, 449], 'article.I': [427], 'have': [428], 'read': [429], 'accept': [431], 'Wiley': [433], 'Online': [434], 'Library': [435], 'UseShareable': [440], 'LinkUse': [441], 'link': [443], 'a': [447, 462], 'article': [452], 'with': [453], 'your': [454], 'friends': [455], 'colleagues.': [457], 'Learn': [458], 'more.Copy': [459], 'URL': [460], 'Share': [461], 'linkShare': [463], 'onFacebookTwitterLinked': [464], 'InRedditWechat': [465], 'No': [466], 'abstract': [467], 'available': [469], 'article.Citing': [472], 'Literature': [473], 'Volume53,': [474], 'Issue41': [475], '1994Pages': [477], 'RelatedInformation': [479]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W2739583036', 'counts_by_year': [], 'updated_date': '2024-12-09T10:49:49.209731', 'created_date': '2017-08-08'}