Get quick answers to your questions about the article from our AI researcher chatbot
{'id': 'https://openalex.org/W2549393891', 'doi': None, 'title': 'to the Clinical Manifestations of the Williams-Beuren Syndrome', 'display_name': 'to the Clinical Manifestations of the Williams-Beuren Syndrome', 'publication_year': 2012, 'publication_date': '2012-01-01', 'ids': {'openalex': 'https://openalex.org/W2549393891', 'mag': '2549393891'}, 'language': 'en', 'primary_location': {'is_oa': False, 'landing_page_url': 'https://www.cell.com/ajhg/pdf/S0002-9297(12)00253-4.pdf', 'pdf_url': None, 'source': None, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}, 'type': 'article', 'type_crossref': 'journal-article', 'indexed_in': [], '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/A5005620097', 'display_name': 'Geert Vandeweyer', 'orcid': 'https://orcid.org/0000-0002-6262-6522'}, 'institutions': [], 'countries': [], 'is_corresponding': False, 'raw_author_name': 'Geert Vandeweyer', 'raw_affiliation_strings': [], 'affiliations': []}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5112340328', 'display_name': 'Nathalie Van der Aa', 'orcid': None}, 'institutions': [], 'countries': [], 'is_corresponding': False, 'raw_author_name': 'Nathalie Van der Aa', 'raw_affiliation_strings': [], 'affiliations': []}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5086624624', 'display_name': 'Edwin Reyniers', 'orcid': None}, 'institutions': [], 'countries': [], 'is_corresponding': False, 'raw_author_name': 'Edwin Reyniers', 'raw_affiliation_strings': [], 'affiliations': []}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5073485583', 'display_name': 'R. Frank Kooy', 'orcid': 'https://orcid.org/0000-0003-2024-0485'}, 'institutions': [], 'countries': [], 'is_corresponding': False, 'raw_author_name': 'R. Frank Kooy', 'raw_affiliation_strings': [], 'affiliations': []}], 'institution_assertions': [], 'countries_distinct_count': 0, 'institutions_distinct_count': 0, 'corresponding_author_ids': [], 'corresponding_institution_ids': [], 'apc_list': None, 'apc_paid': None, 'fwci': 0.0, 'has_fulltext': False, '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': 64}, 'biblio': {'volume': None, 'issue': None, 'first_page': None, 'last_page': None}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T13258', 'display_name': 'Williams Syndrome Research', 'score': 0.9998, 'subfield': {'id': 'https://openalex.org/subfields/2806', 'display_name': 'Developmental Neuroscience'}, 'field': {'id': 'https://openalex.org/fields/28', 'display_name': 'Neuroscience'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}, 'topics': [{'id': 'https://openalex.org/T13258', 'display_name': 'Williams Syndrome Research', 'score': 0.9998, 'subfield': {'id': 'https://openalex.org/subfields/2806', 'display_name': 'Developmental Neuroscience'}, 'field': {'id': 'https://openalex.org/fields/28', 'display_name': 'Neuroscience'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}, {'id': 'https://openalex.org/T11677', 'display_name': 'Congenital heart defects research', 'score': 0.9166, '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/williams-syndrome', 'display_name': 'Williams Syndrome', 'score': 0.97003627}, {'id': 'https://openalex.org/keywords/haploinsufficiency', 'display_name': 'Haploinsufficiency', 'score': 0.8816558}, {'id': 'https://openalex.org/keywords/neurodevelopmental-disorder', 'display_name': 'Neurodevelopmental disorder', 'score': 0.5069735}, {'id': 'https://openalex.org/keywords/supravalvular-aortic-stenosis', 'display_name': 'Supravalvular aortic stenosis', 'score': 0.456022}], 'concepts': [{'id': 'https://openalex.org/C2781240822', 'wikidata': 'https://www.wikidata.org/wiki/Q558077', 'display_name': 'Williams syndrome', 'level': 3, 'score': 0.97003627}, {'id': 'https://openalex.org/C68838962', 'wikidata': 'https://www.wikidata.org/wiki/Q852654', 'display_name': 'Haploinsufficiency', 'level': 4, 'score': 0.8816558}, {'id': 'https://openalex.org/C169900460', 'wikidata': 'https://www.wikidata.org/wiki/Q2200417', 'display_name': 'Cognition', 'level': 2, 'score': 0.6784705}, {'id': 'https://openalex.org/C551499885', 'wikidata': 'https://www.wikidata.org/wiki/Q183560', 'display_name': 'Intellectual disability', 'level': 2, 'score': 0.5158919}, {'id': 'https://openalex.org/C2779388368', 'wikidata': 'https://www.wikidata.org/wiki/Q3450985', 'display_name': 'Neurodevelopmental disorder', 'level': 3, 'score': 0.5069735}, {'id': 'https://openalex.org/C2781290252', 'wikidata': 'https://www.wikidata.org/wiki/Q16874615', 'display_name': 'Supravalvular aortic stenosis', 'level': 3, 'score': 0.456022}, {'id': 'https://openalex.org/C127716648', 'wikidata': 'https://www.wikidata.org/wiki/Q104053', 'display_name': 'Phenotype', 'level': 3, 'score': 0.44905782}, {'id': 'https://openalex.org/C15744967', 'wikidata': 'https://www.wikidata.org/wiki/Q9418', 'display_name': 'Psychology', 'level': 0, 'score': 0.42827195}, {'id': 'https://openalex.org/C71924100', 'wikidata': 'https://www.wikidata.org/wiki/Q11190', 'display_name': 'Medicine', 'level': 0, 'score': 0.35795254}, {'id': 'https://openalex.org/C54355233', 'wikidata': 'https://www.wikidata.org/wiki/Q7162', 'display_name': 'Genetics', 'level': 1, 'score': 0.28686076}, {'id': 'https://openalex.org/C169760540', 'wikidata': 'https://www.wikidata.org/wiki/Q207011', 'display_name': 'Neuroscience', 'level': 1, 'score': 0.25888842}, {'id': 'https://openalex.org/C104317684', 'wikidata': 'https://www.wikidata.org/wiki/Q7187', 'display_name': 'Gene', 'level': 2, 'score': 0.22764185}, {'id': 'https://openalex.org/C126322002', 'wikidata': 'https://www.wikidata.org/wiki/Q11180', 'display_name': 'Internal medicine', 'level': 1, 'score': 0.19338796}, {'id': 'https://openalex.org/C138496976', 'wikidata': 'https://www.wikidata.org/wiki/Q175002', 'display_name': 'Developmental psychology', 'level': 1, 'score': 0.19223604}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.18320557}, {'id': 'https://openalex.org/C205778803', 'wikidata': 'https://www.wikidata.org/wiki/Q38404', 'display_name': 'Autism', 'level': 2, 'score': 0.16125289}, {'id': 'https://openalex.org/C118552586', 'wikidata': 'https://www.wikidata.org/wiki/Q7867', 'display_name': 'Psychiatry', 'level': 1, 'score': 0.15234122}, {'id': 'https://openalex.org/C2780007028', 'wikidata': 'https://www.wikidata.org/wiki/Q2343082', 'display_name': 'Stenosis', 'level': 2, 'score': 0.0}], 'mesh': [], 'locations_count': 1, 'locations': [{'is_oa': False, 'landing_page_url': 'https://www.cell.com/ajhg/pdf/S0002-9297(12)00253-4.pdf', 'pdf_url': None, 'source': None, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}], 'best_oa_location': None, 'sustainable_development_goals': [{'id': 'https://metadata.un.org/sdg/4', 'display_name': 'Quality education', 'score': 0.79}], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 46, 'referenced_works': ['https://openalex.org/W1965521081', 'https://openalex.org/W1976003876', 'https://openalex.org/W1982764920', 'https://openalex.org/W1983144305', 'https://openalex.org/W1988578949', 'https://openalex.org/W1992407084', 'https://openalex.org/W1992502425', 'https://openalex.org/W2002387747', 'https://openalex.org/W2007364430', 'https://openalex.org/W2009233191', 'https://openalex.org/W2012203722', 'https://openalex.org/W2013293473', 'https://openalex.org/W2025159391', 'https://openalex.org/W2027211272', 'https://openalex.org/W2034209061', 'https://openalex.org/W2041123326', 'https://openalex.org/W2044732552', 'https://openalex.org/W2062811638', 'https://openalex.org/W2065419442', 'https://openalex.org/W2073895292', 'https://openalex.org/W2075168304', 'https://openalex.org/W2076788657', 'https://openalex.org/W2079693422', 'https://openalex.org/W2083702249', 'https://openalex.org/W2088587295', 'https://openalex.org/W2097106481', 'https://openalex.org/W2102929757', 'https://openalex.org/W2104097622', 'https://openalex.org/W2107774326', 'https://openalex.org/W2110182011', 'https://openalex.org/W2110815266', 'https://openalex.org/W2110886936', 'https://openalex.org/W2118522871', 'https://openalex.org/W2127036150', 'https://openalex.org/W2139773267', 'https://openalex.org/W2141023911', 'https://openalex.org/W2141475257', 'https://openalex.org/W2142568242', 'https://openalex.org/W2146629868', 'https://openalex.org/W2151523001', 'https://openalex.org/W2152004560', 'https://openalex.org/W2153893194', 'https://openalex.org/W2156526807', 'https://openalex.org/W2162735782', 'https://openalex.org/W2165014900', 'https://openalex.org/W2170357921'], 'related_works': ['https://openalex.org/W3005707999', 'https://openalex.org/W2997046783', 'https://openalex.org/W2913021037', 'https://openalex.org/W2625580461', 'https://openalex.org/W2594079088', 'https://openalex.org/W2494130048', 'https://openalex.org/W2492957623', 'https://openalex.org/W2316123568', 'https://openalex.org/W2184249581', 'https://openalex.org/W2116008846', 'https://openalex.org/W2110892690', 'https://openalex.org/W2104034278', 'https://openalex.org/W2071542196', 'https://openalex.org/W2068019311', 'https://openalex.org/W2058764646', 'https://openalex.org/W2012957975', 'https://openalex.org/W1992575979', 'https://openalex.org/W1973380088', 'https://openalex.org/W1963634727', 'https://openalex.org/W1934116284'], 'abstract_inverted_index': {'bilities,': [0], 'and': [1, 55, 101, 166, 217, 259, 279, 309, 335, 368, 386, 393], 'a': [2, 26, 43, 74, 186, 218, 249, 260], 'severe': [3, 261, 274], 'visual-spatial': [4, 262, 277], 'constructive': [5, 263], 'impairment.': [6, 264], 'Atypical': [7], 'deletions': [8, 23], 'in': [9, 29, 52, 59, 73, 154, 232, 276, 282, 295, 401], 'the': [10, 30, 53, 69, 86, 91, 105, 121, 127, 135, 145, 162, 169, 173, 225, 233, 239, 283, 296, 307, 321, 325, 353, 358, 366, 372, 390, 398], 'region': [11, 32], 'have': [12, 33], 'helped': [13], 'to': [14, 120, 134, 144, 196, 305, 315, 361, 379], 'establish': [15], 'genotype-phenotype': [16], 'correlations.': [17], 'So': [18], 'far,': [19], 'however,': [20], 'hardly': [21], 'any': [22, 84], 'affecting': [24], 'only': [25], 'single': [27], 'gene': [28, 67], 'disease': [31], 'been': [34, 63, 269, 289], 'described.': [35], 'We': [36], 'present': [37], 'here': [38], 'two': [39], 'healthy': [40], 'siblings': [41, 80], 'with': [42, 90, 156, 177, 190], 'pure,': [44], 'hemizygous': [45], 'deletion': [46], 'of': [47, 71, 85, 104, 126, 142, 194, 224, 236, 299, 324, 345, 371], 'CLIP2.': [48], 'A': [49], 'putative': [50], 'role': [51], 'cognitive': [54, 108, 124, 138, 174, 220, 242, 341, 343], 'behavioral': [56], 'abnormalities': [57], 'seen': [58], 'Williams-Beuren': [60, 128, 178, 180], 'patients': [61, 313, 347, 405], 'has': [62, 268, 287], 'suggested': [64], 'for': [65, 99], 'this': [66], 'on': [68, 352, 365, 383], 'basis': [70], 'observations': [72], 'knock-out': [75], 'mouse': [76], 'model.': [77], 'The': [78, 198, 266], 'presented': [79], 'did': [81], 'not': [82, 118], 'show': [83], 'clinical': [87], 'features': [88], 'associated': [89, 176], 'syndrome.': [92, 179], 'Cognitive': [93], 'testing': [94, 328], 'showed': [95], 'an': [96, 191], 'average': [97], 'IQ': [98, 227], 'both': [100, 306], 'no': [102], 'indication': [103], 'Williams': [106, 136, 240], 'syndrome': [107, 137, 181, 241], 'profile.': [109, 139, 221], 'This': [110], 'shows': [111], 'that': [112, 164, 291], 'CLIP2': [113, 143], 'haploinsufficiency': [114], 'by': [115, 248], 'itself': [116], 'does': [117, 131], 'lead': [119, 133], 'physical': [122], 'or': [123], 'characteristics': [125], 'syndrome,': [129], 'nor': [130], 'it': [132, 151], 'Although': [140, 320], 'contribution': [141], 'phenotype': [146, 200], 'cannot': [147], 'be': [148], 'excluded': [149], 'when': [150, 312], 'is': [152, 185, 230, 245], 'deleted': [153], 'combination': [155], 'other': [157], 'genes,': [158], 'our': [159], 'results': [160], 'support': [161], 'hypothesis': [163], 'GTF2IRD1': [165], 'GTF2I': [167], 'are': [168], 'main': [170], 'genes': [171], 'causing': [172], 'defects': [175, 209, 293, 303], '(WBS': [182], '[MIM': [183], '194050])': [184], 'rare': [187], 'neurodevelopmental': [188], 'disorder': [189], 'estimated': [192], 'frequency': [193], '1/7,500': [195], '1/15,000.': [197], 'WBS': [199, 300, 346, 404], 'includes': [201], 'recognizable': [202], 'facial': [203], 'dysmorphisms,': [204], 'connective': [205], 'tissue': [206], 'abnormalities,': [207, 213], 'cardiac': [208], '(SVAS/PPS),': [210], 'structural': [211], 'brain': [212], 'transient': [214], 'infantile': [215], 'hypercalcemia,': [216], 'specific': [219, 292], '1‐3': [222], 'Independent': [223], 'global': [226, 399], 'level,': [228], 'which': [229], 'commonly': [231], 'mild': [234], 'range': [235], 'intellectual': [237], 'disability,': [238], 'profile': [243], '(WSCP)': [244], 'globally': [246], 'characterized': [247], 'better-than-expected': [250], 'auditory': [251], 'rote': [252], 'memory': [253, 298], 'ability,': [254], 'relatively': [255], 'spared': [256], 'language': [257], 'capabilities,': [258], '4': [265], 'WSCP': [267, 359], 'divided': [270], 'into': [271], 'sub-profiles': [272], 'involving': [273], 'impairments': [275], 'processing': [278, 336], 'better': [280], 'skills': [281], 'verbal': [284, 308, 373], 'domain.': [285], 'It': [286], 'further': [288], 'demonstrated': [290], 'exist': [294], 'working': [297, 331, 402], 'patients;': [301], 'these': [302], 'relate': [304], 'spatial': [310], 'domains': [311], 'need': [314], 'process': [316], 'stored': [317], 'information.': [318], '5': [319], 'four': [322], 'indices': [323], 'Wechsler': [326], 'intelligence': [327], '(verbal': [329], 'comprehension,': [330], 'memory,': [332, 403], 'perceptual': [333], 'organization,': [334], 'speed)': [337], 'specifically': [338], 'query': [339], 'discrete': [340], 'domains,': [342], 'profiling': [344], 'typically': [348], 'reveals': [349], 'subindex': [350], 'differences': [351], 'individual': [354], 'subtest': [355], 'scores.': [356], 'Specifically,': [357], 'translates': [360], 'significantly': [362, 380], 'higher': [363], 'scores': [364, 382], 'vocabulary': [367], 'similarities': [369], 'subtests': [370, 388], 'comprehension': [374], 'index,': [375], 'as': [376, 378], 'well': [377], 'lower': [381], 'arithmetic,': [384], 'digit-symbol,': [385], 'block-design': [387], 'from': [389], 'working-memory,': [391], 'processing-speed,': [392], 'perceptual-organization': [394], 'tests,': [395], 'respectively.': [396], 'Despite': [397], 'impairment': [400]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W2549393891', 'counts_by_year': [], 'updated_date': '2024-12-08T02:08:19.865484', 'created_date': '2016-11-30'}