Publication Information

{'id': 'https://openalex.org/W2049492238', 'doi': 'https://doi.org/10.1002/ajmg.a.31067', 'title': 'Novel clinical features in a child with partial deletion of chromosome 11 [del(11)(q24.2)]: Further evidence for phenotypic heterogeneity', 'display_name': 'Novel clinical features in a child with partial deletion of chromosome 11 [del(11)(q24.2)]: Further evidence for phenotypic heterogeneity', 'publication_year': 2006, 'publication_date': '2006-01-12', 'ids': {'openalex': 'https://openalex.org/W2049492238', 'doi': 'https://doi.org/10.1002/ajmg.a.31067', 'mag': '2049492238', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/16411193'}, 'language': 'en', 'primary_location': {'is_oa': False, 'landing_page_url': 'https://doi.org/10.1002/ajmg.a.31067', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S180901878', 'display_name': 'American Journal of Medical Genetics Part A', 'issn_l': '1552-4825', 'issn': ['1552-4825', '1552-4833'], '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/A5012494390', 'display_name': 'Philip F. Giampietro', 'orcid': 'https://orcid.org/0000-0003-2874-8064'}, 'institutions': [], 'countries': [], 'is_corresponding': False, 'raw_author_name': 'Philip F. Giampietro', 'raw_affiliation_strings': ['Marshfield Clinic'], 'affiliations': [{'raw_affiliation_string': 'Marshfield Clinic', 'institution_ids': []}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5064403950', 'display_name': 'Deepti Babu', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I154425047', 'display_name': 'University of Alberta', 'ror': 'https://ror.org/0160cpw27', 'country_code': 'CA', 'type': 'education', 'lineage': ['https://openalex.org/I154425047']}], 'countries': ['CA'], 'is_corresponding': False, 'raw_author_name': 'Deepti Babu', 'raw_affiliation_strings': ['University of Alberta'], 'affiliations': [{'raw_affiliation_string': 'University of Alberta', 'institution_ids': ['https://openalex.org/I154425047']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5080803247', 'display_name': 'Carrie Zabel', 'orcid': None}, 'institutions': [], 'countries': [], 'is_corresponding': False, 'raw_author_name': 'Carrie A. Zabel', 'raw_affiliation_strings': ['Department of Medical Genetic Services'], 'affiliations': [{'raw_affiliation_string': 'Department of Medical Genetic Services', 'institution_ids': []}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5043348852', 'display_name': 'Teresa Silberman', 'orcid': None}, 'institutions': [], 'countries': [], 'is_corresponding': False, 'raw_author_name': 'Teresa Silberman', 'raw_affiliation_strings': ['Marshfield Clinic'], 'affiliations': [{'raw_affiliation_string': 'Marshfield Clinic', 'institution_ids': []}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5033637368', 'display_name': 'Ivan E. Zador', 'orcid': None}, 'institutions': [], 'countries': [], 'is_corresponding': False, 'raw_author_name': 'Ivan Zador', 'raw_affiliation_strings': ['Marshfield Clinic'], 'affiliations': [{'raw_affiliation_string': 'Marshfield Clinic', 'institution_ids': []}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5024619416', 'display_name': 'David M. DeBauche', 'orcid': None}, 'institutions': [], 'countries': [], 'is_corresponding': False, 'raw_author_name': 'David DeBauche', 'raw_affiliation_strings': ['Genzyme Genetics'], 'affiliations': [{'raw_affiliation_string': 'Genzyme Genetics', 'institution_ids': []}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5013949573', 'display_name': 'J. Britt Ravnan', 'orcid': None}, 'institutions': [], 'countries': [], 'is_corresponding': False, 'raw_author_name': 'J. Britt Ravnan', 'raw_affiliation_strings': ['Genzyme Genetics'], 'affiliations': [{'raw_affiliation_string': 'Genzyme Genetics', 'institution_ids': []}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5055923908', 'display_name': 'Bhavana J. Davé', 'orcid': 'https://orcid.org/0000-0002-2904-9161'}, 'institutions': [], 'countries': [], 'is_corresponding': False, 'raw_author_name': 'Bhavana J. Dave', 'raw_affiliation_strings': ['Cytogenetics'], 'affiliations': [{'raw_affiliation_string': 'Cytogenetics', 'institution_ids': []}]}], 'institution_assertions': [], 'countries_distinct_count': 1, 'institutions_distinct_count': 1, 'corresponding_author_ids': [], 'corresponding_institution_ids': [], 'apc_list': None, 'apc_paid': None, 'fwci': None, 'has_fulltext': True, 'fulltext_origin': 'ngrams', 'cited_by_count': 8, 'citation_normalized_percentile': {'value': 0.780007, 'is_in_top_1_percent': False, 'is_in_top_10_percent': False}, 'cited_by_percentile_year': {'min': 80, 'max': 81}, 'biblio': {'volume': '140A', 'issue': '4', 'first_page': '385', 'last_page': '387'}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T12150', 'display_name': 'Intestinal Malrotation and Obstruction Disorders', 'score': 0.9993, 'subfield': {'id': 'https://openalex.org/subfields/2746', 'display_name': 'Surgery'}, '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/T12150', 'display_name': 'Intestinal Malrotation and Obstruction Disorders', 'score': 0.9993, 'subfield': {'id': 'https://openalex.org/subfields/2746', 'display_name': 'Surgery'}, '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/T11213', 'display_name': 'Genomic variations and chromosomal abnormalities', 'score': 0.9976, '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/T12460', 'display_name': 'Pediatric Hepatobiliary Diseases and Treatments', 'score': 0.9932, 'subfield': {'id': 'https://openalex.org/subfields/2746', 'display_name': 'Surgery'}, '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/medical-genetics', 'display_name': 'Medical genetics', 'score': 0.42871192}], 'concepts': [{'id': 'https://openalex.org/C64474127', 'wikidata': 'https://www.wikidata.org/wiki/Q1071953', 'display_name': 'Medical genetics', 'level': 3, 'score': 0.42871192}, {'id': 'https://openalex.org/C161191863', 'wikidata': 'https://www.wikidata.org/wiki/Q199655', 'display_name': 'Library science', 'level': 1, 'score': 0.41995132}, {'id': 'https://openalex.org/C71924100', 'wikidata': 'https://www.wikidata.org/wiki/Q11190', 'display_name': 'Medicine', 'level': 0, 'score': 0.3865841}, {'id': 'https://openalex.org/C512399662', 'wikidata': 'https://www.wikidata.org/wiki/Q3505712', 'display_name': 'Family medicine', 'level': 1, 'score': 0.35975707}, {'id': 'https://openalex.org/C54355233', 'wikidata': 'https://www.wikidata.org/wiki/Q7162', 'display_name': 'Genetics', 'level': 1, 'score': 0.27812237}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.19142923}, {'id': 'https://openalex.org/C41008148', 'wikidata': 'https://www.wikidata.org/wiki/Q21198', 'display_name': 'Computer science', 'level': 0, 'score': 0.1682435}, {'id': 'https://openalex.org/C104317684', 'wikidata': 'https://www.wikidata.org/wiki/Q7187', 'display_name': 'Gene', 'level': 2, 'score': 0.116505116}], 'mesh': [{'descriptor_ui': 'D000015', 'descriptor_name': 'Abnormalities, Multiple', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D002872', 'descriptor_name': 'Chromosome Deletion', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D002880', 'descriptor_name': 'Chromosomes, Human, Pair 11', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D000015', 'descriptor_name': 'Abnormalities, Multiple', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D001851', 'descriptor_name': 'Bone Diseases, Metabolic', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D001851', 'descriptor_name': 'Bone Diseases, Metabolic', 'qualifier_ui': 'Q000150', 'qualifier_name': 'complications', 'is_major_topic': False}, {'descriptor_ui': 'D001851', 'descriptor_name': 'Bone Diseases, Metabolic', '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': 'D002880', 'descriptor_name': 'Chromosomes, Human, Pair 11', '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': 'D005317', 'descriptor_name': 'Fetal Growth Retardation', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D005317', 'descriptor_name': 'Fetal Growth Retardation', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D034381', 'descriptor_name': 'Hearing Loss', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D034381', 'descriptor_name': 'Hearing Loss', 'qualifier_ui': 'Q000150', 'qualifier_name': 'complications', 'is_major_topic': False}, {'descriptor_ui': 'D034381', 'descriptor_name': 'Hearing Loss', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D006345', 'descriptor_name': 'Heart Septal Defects, Ventricular', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D006345', 'descriptor_name': 'Heart Septal Defects, Ventricular', 'qualifier_ui': 'Q000150', 'qualifier_name': 'complications', 'is_major_topic': False}, {'descriptor_ui': 'D006345', 'descriptor_name': 'Heart Septal Defects, Ventricular', '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': 'D017404', 'descriptor_name': 'In Situ Hybridization, Fluorescence', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D007621', 'descriptor_name': 'Karyotyping', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D010641', 'descriptor_name': 'Phenotype', '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.a.31067', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S180901878', 'display_name': 'American Journal of Medical Genetics Part A', 'issn_l': '1552-4825', 'issn': ['1552-4825', '1552-4833'], '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/16411193', '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': 5, 'referenced_works': ['https://openalex.org/W1509680984', 'https://openalex.org/W1978978873', 'https://openalex.org/W1981352611', 'https://openalex.org/W2063426414', 'https://openalex.org/W2330840057'], 'related_works': ['https://openalex.org/W4389568370', 'https://openalex.org/W3108674512', 'https://openalex.org/W3032375762', 'https://openalex.org/W3031052312', 'https://openalex.org/W2748952813', 'https://openalex.org/W2586801360', 'https://openalex.org/W2080531066', 'https://openalex.org/W1995515455', 'https://openalex.org/W1506200166', 'https://openalex.org/W1489783725'], 'abstract_inverted_index': {'American': [0], 'Journal': [1], 'of': [2, 23, 42, 48, 71, 89, 105, 121, 176, 198, 204, 227, 245, 261, 277, 332, 373, 383, 396, 407], 'Medical': [3, 43, 49, 72, 90, 178, 199, 205, 228, 246, 334], 'Genetics': [4, 172, 328], 'Part': [5], 'AVolume': [6], '140A,': [7], 'Issue': [8], '4': [9], 'p.': [10], '385-387': [11, 429], 'Research': [12], 'Letter': [13], 'Novel': [14], 'clinical': [15], 'features': [16], 'in': [17], 'a': [18, 404, 419], 'child': [19], 'with': [20, 410], 'partial': [21], 'deletion': [22], 'chromosome': [24], '11': [25], '[del(11)(q24.2)]:': [26], 'Further': [27], 'evidence': [28], 'for': [29, 61, 77, 95, 111, 127, 140, 157, 171, 182, 217, 233, 251, 267, 283, 296, 313, 327, 338], 'phenotypic': [30], 'heterogeneity': [31], 'Philip': [32, 37, 188, 193], 'F.': [33, 38, 189, 194], 'Giampietro,': [34, 190], 'Corresponding': [35, 191], 'Author': [36, 192], 'Giampietro': [39, 195], '[email protected]': [40, 196], 'Department': [41, 70, 88, 104, 120, 197, 226, 244, 260, 276], 'Genetic': [44, 50, 73, 91, 200, 206, 229, 247], 'Services,': [45, 51, 74, 92, 201, 207, 230, 248], 'Marshfield,': [46, 58, 75, 93, 109, 125, 202, 214, 231, 249, 265, 281], 'WisconsinDepartment': [47, 203], 'Marshfield': [52, 107, 123, 208, 263, 279], 'Clinic,': [53, 108, 124, 209, 264, 280], '1000': [54, 210], 'North': [55, 211], 'Oak': [56, 212], 'Avenue,': [57, 213], 'WI': [59, 215], '54449.Search': [60, 216], 'more': [62, 78, 96, 112, 128, 141, 158, 183, 218, 234, 252, 268, 284, 297, 314, 339], 'papers': [63, 79, 97, 113, 129, 142, 159, 184, 219, 235, 253, 269, 285, 298, 315, 340], 'by': [64, 80, 98, 114, 130, 143, 160, 185, 220, 236, 254, 270, 286, 299, 316, 341], 'this': [65, 81, 99, 115, 131, 144, 161, 186, 221, 237, 255, 271, 287, 300, 317, 342, 408], 'authorDeepti': [66, 222], 'Babu,': [67, 223], 'Deepti': [68, 224], 'Babu': [69, 225], 'WisconsinSearch': [76, 94, 110, 126, 232, 250, 266, 282], 'authorCarrie': [82, 238], 'A.': [83, 86, 239, 242], 'Zabel,': [84, 240], 'Carrie': [85, 241], 'Zabel': [87, 243], 'authorTeresa': [100, 256], 'Silberman,': [101, 257], 'Teresa': [102, 258], 'Silberman': [103, 259], 'Pediatrics,': [106, 122, 262, 278], 'authorIvan': [116, 272], 'Zador,': [117, 273], 'Ivan': [118, 274], 'Zador': [119, 275], 'authorDavid': [132, 288], 'DeBauche,': [133, 289], 'David': [134, 290], 'DeBauche': [135, 291], 'Genzyme': [136, 151, 292, 307], 'Genetics,': [137, 152, 293, 308], 'Tampa,': [138, 294], 'FloridaSearch': [139, 295], 'authorJ.': [145, 301], 'Britt': [146, 149, 302, 305], 'Ravnan,': [147, 303], 'J.': [148, 163, 166, 304, 319, 322], 'Ravnan': [150, 306], 'Sante': [153, 309], 'Fe,': [154, 310], 'New': [155, 311], 'MexicoSearch': [156, 312], 'authorBhavana': [162, 318], 'Dave,': [164, 320], 'Bhavana': [165, 321], 'Dave': [167, 323], 'Munroe': [168, 324], 'Meyer': [169, 325], 'Institute': [170, 326], 'and': [173, 329, 371, 375, 387, 394, 413], 'Rehabilitation,': [174, 330], 'University': [175, 331], 'Nebraska': [177, 333], 'Center,': [179, 335], 'Omaha,': [180, 336], 'NebraskaSearch': [181, 337], 'author': [187, 343], 'First': [344], 'published:': [345], '12': [346], 'January': [347], '2006': [348], 'https://doi.org/10.1002/ajmg.a.31067Citations:': [349], '7Read': [350], 'the': [351, 389, 399], 'full': [352, 363], 'textAboutPDF': [353], 'ToolsRequest': [354], 'permissionExport': [355], 'citationAdd': [356], 'to': [357, 379, 402], 'favoritesTrack': [358], 'citation': [359], 'ShareShare': [360], 'Give': [361], 'accessShare': [362, 365], 'text': [364], 'full-text': [366, 381, 405], 'accessPlease': [367], 'review': [368], 'our': [369], 'Terms': [370, 393], 'Conditions': [372, 395], 'Use': [374], 'check': [376], 'box': [377], 'below': [378, 401], 'share': [380, 403], 'version': [382, 406], 'article.I': [384], 'have': [385], 'read': [386], 'accept': [388], 'Wiley': [390], 'Online': [391], 'Library': [392], 'UseShareable': [397], 'LinkUse': [398], 'link': [400], 'article': [409], 'your': [411], 'friends': [412], 'colleagues.': [414], 'Learn': [415], 'more.Copy': [416], 'URL': [417], 'Share': [418], 'linkShare': [420], 'onFacebookTwitterLinked': [421], 'InRedditWechat': [422], 'Citing': [423], 'Literature': [424], 'Volume140A,': [425], 'Issue415': [426], 'February': [427], '2006Pages': [428], 'RelatedInformation': [430]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W2049492238', 'counts_by_year': [{'year': 2022, 'cited_by_count': 1}, {'year': 2017, 'cited_by_count': 1}, {'year': 2015, 'cited_by_count': 1}], 'updated_date': '2024-12-14T07:13:44.602139', 'created_date': '2016-06-24'}