Get quick answers to your questions about the article from our AI researcher chatbot
{'id': 'https://openalex.org/W2011146990', 'doi': 'https://doi.org/10.1016/j.ejmg.2013.05.006', 'title': 'Genotype–phenotype analysis of 18q12.1-q12.2 copy number variation in autism', 'display_name': 'Genotype–phenotype analysis of 18q12.1-q12.2 copy number variation in autism', 'publication_year': 2013, 'publication_date': '2013-05-29', 'ids': {'openalex': 'https://openalex.org/W2011146990', 'doi': 'https://doi.org/10.1016/j.ejmg.2013.05.006', 'mag': '2011146990', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/23727450'}, 'language': 'en', 'primary_location': {'is_oa': False, 'landing_page_url': 'https://doi.org/10.1016/j.ejmg.2013.05.006', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S160362754', 'display_name': 'European Journal of Medical Genetics', 'issn_l': '1769-7212', 'issn': ['1769-7212', '1878-0849'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320990', 'host_organization_name': 'Elsevier BV', 'host_organization_lineage': ['https://openalex.org/P4310320990'], 'host_organization_lineage_names': ['Elsevier BV'], 'type': 'journal'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}, 'type': 'review', '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/A5100756928', 'display_name': 'Peter Wang', 'orcid': 'https://orcid.org/0000-0002-0682-6861'}, 'institutions': [{'id': 'https://openalex.org/I141945490', 'display_name': 'University of British Columbia', 'ror': 'https://ror.org/03rmrcq20', 'country_code': 'CA', 'type': 'education', 'lineage': ['https://openalex.org/I141945490']}], 'countries': ['CA'], 'is_corresponding': False, 'raw_author_name': 'Peter Wang', 'raw_affiliation_strings': ['Department of Biochemistry and Molecular Biology, University of British Columbia, Vancouver, BC, Canada', 'Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada'], 'affiliations': [{'raw_affiliation_string': 'Department of Biochemistry and Molecular Biology, University of British Columbia, Vancouver, BC, Canada', 'institution_ids': ['https://openalex.org/I141945490']}, {'raw_affiliation_string': 'Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada', 'institution_ids': ['https://openalex.org/I141945490']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5047994864', 'display_name': 'Prescilla Carrion', 'orcid': 'https://orcid.org/0000-0003-4965-9175'}, 'institutions': [{'id': 'https://openalex.org/I141945490', 'display_name': 'University of British Columbia', 'ror': 'https://ror.org/03rmrcq20', 'country_code': 'CA', 'type': 'education', 'lineage': ['https://openalex.org/I141945490']}], 'countries': ['CA'], 'is_corresponding': False, 'raw_author_name': 'Prescilla Carrion', 'raw_affiliation_strings': ['Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada'], 'affiliations': [{'raw_affiliation_string': 'Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada', 'institution_ids': ['https://openalex.org/I141945490']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5014597565', 'display_name': 'Ying Qiao', 'orcid': 'https://orcid.org/0000-0002-4356-0927'}, 'institutions': [{'id': 'https://openalex.org/I141945490', 'display_name': 'University of British Columbia', 'ror': 'https://ror.org/03rmrcq20', 'country_code': 'CA', 'type': 'education', 'lineage': ['https://openalex.org/I141945490']}], 'countries': ['CA'], 'is_corresponding': False, 'raw_author_name': 'Ying Qiao', 'raw_affiliation_strings': ['Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada', 'Department of Pathology, University of British Columbia, Vancouver, BC, Canada'], 'affiliations': [{'raw_affiliation_string': 'Department of Pathology, University of British Columbia, Vancouver, BC, Canada', 'institution_ids': ['https://openalex.org/I141945490']}, {'raw_affiliation_string': 'Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada', 'institution_ids': ['https://openalex.org/I141945490']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5016675354', 'display_name': 'Christine Tyson', 'orcid': 'https://orcid.org/0000-0002-3556-2906'}, 'institutions': [{'id': 'https://openalex.org/I13328022', 'display_name': 'Royal Columbian Hospital', 'ror': 'https://ror.org/05ymyxj51', 'country_code': 'CA', 'type': 'healthcare', 'lineage': ['https://openalex.org/I1308729876', 'https://openalex.org/I13328022', 'https://openalex.org/I178133122']}], 'countries': ['CA'], 'is_corresponding': False, 'raw_author_name': 'Christine Tyson', 'raw_affiliation_strings': ['Department of Pathology, Cytogenetic Laboratory, Royal Columbian Hospital, New Westminster, BC, Canada'], 'affiliations': [{'raw_affiliation_string': 'Department of Pathology, Cytogenetic Laboratory, Royal Columbian Hospital, New Westminster, BC, Canada', 'institution_ids': ['https://openalex.org/I13328022']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5013413062', 'display_name': 'Monica Hrynchak', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I13328022', 'display_name': 'Royal Columbian Hospital', 'ror': 'https://ror.org/05ymyxj51', 'country_code': 'CA', 'type': 'healthcare', 'lineage': ['https://openalex.org/I1308729876', 'https://openalex.org/I13328022', 'https://openalex.org/I178133122']}], 'countries': ['CA'], 'is_corresponding': False, 'raw_author_name': 'Monica Hrynchak', 'raw_affiliation_strings': ['Department of Pathology, Cytogenetic Laboratory, Royal Columbian Hospital, New Westminster, BC, Canada'], 'affiliations': [{'raw_affiliation_string': 'Department of Pathology, Cytogenetic Laboratory, Royal Columbian Hospital, New Westminster, BC, Canada', 'institution_ids': ['https://openalex.org/I13328022']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5011056085', 'display_name': 'Kristina Calli', 'orcid': 'https://orcid.org/0000-0002-8632-983X'}, 'institutions': [{'id': 'https://openalex.org/I141945490', 'display_name': 'University of British Columbia', 'ror': 'https://ror.org/03rmrcq20', 'country_code': 'CA', 'type': 'education', 'lineage': ['https://openalex.org/I141945490']}], 'countries': ['CA'], 'is_corresponding': False, 'raw_author_name': 'Kristina Calli', 'raw_affiliation_strings': ['Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada'], 'affiliations': [{'raw_affiliation_string': 'Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada', 'institution_ids': ['https://openalex.org/I141945490']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5051252060', 'display_name': 'Elena Lopez‐Rangel', 'orcid': 'https://orcid.org/0000-0002-1201-7278'}, 'institutions': [{'id': 'https://openalex.org/I141945490', 'display_name': 'University of British Columbia', 'ror': 'https://ror.org/03rmrcq20', 'country_code': 'CA', 'type': 'education', 'lineage': ['https://openalex.org/I141945490']}], 'countries': ['CA'], 'is_corresponding': False, 'raw_author_name': 'Elena Lopez-Rangel', 'raw_affiliation_strings': ['Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada'], 'affiliations': [{'raw_affiliation_string': 'Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada', 'institution_ids': ['https://openalex.org/I141945490']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5067863333', 'display_name': 'Joris Andrieux', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I4210104040', 'display_name': 'Hôpital Jeanne de Flandre', 'ror': 'https://ror.org/01e8kn913', 'country_code': 'FR', 'type': 'healthcare', 'lineage': ['https://openalex.org/I3018718406', 'https://openalex.org/I4210104040']}], 'countries': ['FR'], 'is_corresponding': False, 'raw_author_name': 'Joris Andrieux', 'raw_affiliation_strings': ['Medical Genetics Laboratory, Hôpital Jeanne de Flandre, Centre Hospitalier Régional Universitaire de Lille, Lille, France'], 'affiliations': [{'raw_affiliation_string': 'Medical Genetics Laboratory, Hôpital Jeanne de Flandre, Centre Hospitalier Régional Universitaire de Lille, Lille, France', 'institution_ids': ['https://openalex.org/I4210104040']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5009629864', 'display_name': 'Bruno Delobel', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I4210137780', 'display_name': "Groupe Hospitalier de l'Institut Catholique de Lille", 'ror': 'https://ror.org/03wr2ty35', 'country_code': 'FR', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210137780']}], 'countries': ['FR'], 'is_corresponding': False, 'raw_author_name': 'Bruno Delobel', 'raw_affiliation_strings': ["Department of Cytogenetics-Medical Genetics, Centre de Génétique Chromosomique, Groupe Hospitalier de l'Institut Catholique de Lille, Lille, France"], 'affiliations': [{'raw_affiliation_string': "Department of Cytogenetics-Medical Genetics, Centre de Génétique Chromosomique, Groupe Hospitalier de l'Institut Catholique de Lille, Lille, France", 'institution_ids': ['https://openalex.org/I4210137780']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5004966333', 'display_name': 'Bénédicte Duban‐Bedu', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I4210137780', 'display_name': "Groupe Hospitalier de l'Institut Catholique de Lille", 'ror': 'https://ror.org/03wr2ty35', 'country_code': 'FR', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210137780']}], 'countries': ['FR'], 'is_corresponding': False, 'raw_author_name': 'Bénédicte Duban-Bedu', 'raw_affiliation_strings': ["Department of Cytogenetics-Medical Genetics, Centre de Génétique Chromosomique, Groupe Hospitalier de l'Institut Catholique de Lille, Lille, France"], 'affiliations': [{'raw_affiliation_string': "Department of Cytogenetics-Medical Genetics, Centre de Génétique Chromosomique, Groupe Hospitalier de l'Institut Catholique de Lille, Lille, France", 'institution_ids': ['https://openalex.org/I4210137780']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5031832846', 'display_name': 'Ann‐Charlotte Thuresson', 'orcid': 'https://orcid.org/0000-0002-4018-5551'}, 'institutions': [{'id': 'https://openalex.org/I123387679', 'display_name': 'Uppsala University', 'ror': 'https://ror.org/048a87296', 'country_code': 'SE', 'type': 'education', 'lineage': ['https://openalex.org/I123387679']}], 'countries': ['SE'], 'is_corresponding': False, 'raw_author_name': 'Ann-Charlotte Thuresson', 'raw_affiliation_strings': ['Department of Immunology, Genetics & Pathology, The Rudbeck Laboratory, Uppsala University, Uppsala, Sweden'], 'affiliations': [{'raw_affiliation_string': 'Department of Immunology, Genetics & Pathology, The Rudbeck Laboratory, Uppsala University, Uppsala, Sweden', 'institution_ids': ['https://openalex.org/I123387679']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5000436755', 'display_name': 'Göran Annerén', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I123387679', 'display_name': 'Uppsala University', 'ror': 'https://ror.org/048a87296', 'country_code': 'SE', 'type': 'education', 'lineage': ['https://openalex.org/I123387679']}], 'countries': ['SE'], 'is_corresponding': False, 'raw_author_name': 'Göran Annerén', 'raw_affiliation_strings': ['Department of Immunology, Genetics & Pathology, The Rudbeck Laboratory, Uppsala University, Uppsala, Sweden'], 'affiliations': [{'raw_affiliation_string': 'Department of Immunology, Genetics & Pathology, The Rudbeck Laboratory, Uppsala University, Uppsala, Sweden', 'institution_ids': ['https://openalex.org/I123387679']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5100354480', 'display_name': 'Xudong Liu', 'orcid': 'https://orcid.org/0000-0001-5700-9303'}, 'institutions': [{'id': 'https://openalex.org/I204722609', 'display_name': "Queen's University", 'ror': 'https://ror.org/02y72wh86', 'country_code': 'CA', 'type': 'education', 'lineage': ['https://openalex.org/I204722609']}], 'countries': ['CA'], 'is_corresponding': False, 'raw_author_name': 'Xudong Liu', 'raw_affiliation_strings': ["Department of Psychiatry, Queen's University, Kingston, Ontario, Canada"], 'affiliations': [{'raw_affiliation_string': "Department of Psychiatry, Queen's University, Kingston, Ontario, Canada", 'institution_ids': ['https://openalex.org/I204722609']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5019249853', 'display_name': 'Evica Rajcan‐Separovic', 'orcid': 'https://orcid.org/0000-0002-4528-7135'}, 'institutions': [{'id': 'https://openalex.org/I141945490', 'display_name': 'University of British Columbia', 'ror': 'https://ror.org/03rmrcq20', 'country_code': 'CA', 'type': 'education', 'lineage': ['https://openalex.org/I141945490']}], 'countries': ['CA'], 'is_corresponding': False, 'raw_author_name': 'Evica Rajcan-Separovic', 'raw_affiliation_strings': ['Department of Pathology, University of British Columbia, Vancouver, BC, Canada'], 'affiliations': [{'raw_affiliation_string': 'Department of Pathology, University of British Columbia, Vancouver, BC, Canada', 'institution_ids': ['https://openalex.org/I141945490']}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5102005914', 'display_name': 'M. E. Suzanne Lewis', 'orcid': 'https://orcid.org/0000-0002-6300-5381'}, 'institutions': [{'id': 'https://openalex.org/I141945490', 'display_name': 'University of British Columbia', 'ror': 'https://ror.org/03rmrcq20', 'country_code': 'CA', 'type': 'education', 'lineage': ['https://openalex.org/I141945490']}], 'countries': ['CA'], 'is_corresponding': True, 'raw_author_name': 'M.E. Suzanne Lewis', 'raw_affiliation_strings': ['Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada'], 'affiliations': [{'raw_affiliation_string': 'Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada', 'institution_ids': ['https://openalex.org/I141945490']}]}], 'institution_assertions': [], 'countries_distinct_count': 3, 'institutions_distinct_count': 6, 'corresponding_author_ids': ['https://openalex.org/A5102005914'], 'corresponding_institution_ids': ['https://openalex.org/I141945490'], 'apc_list': {'value': 3190, 'currency': 'USD', 'value_usd': 3190, 'provenance': 'doaj'}, 'apc_paid': None, 'fwci': 0.207, 'has_fulltext': True, 'fulltext_origin': 'ngrams', 'cited_by_count': 11, 'citation_normalized_percentile': {'value': 0.302326, 'is_in_top_1_percent': False, 'is_in_top_10_percent': False}, 'cited_by_percentile_year': {'min': 86, 'max': 87}, 'biblio': {'volume': '56', 'issue': '8', 'first_page': '420', 'last_page': '425'}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T11213', 'display_name': 'Genomic Rearrangements and Copy Number Variations', '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/T11213', 'display_name': 'Genomic Rearrangements and Copy Number Variations', '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/T10106', 'display_name': 'Autism Spectrum Disorders', 'score': 0.9986, 'subfield': {'id': 'https://openalex.org/subfields/2805', 'display_name': 'Cognitive 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': 'Molecular Mechanisms of Cardiac Development and Regeneration', 'score': 0.9983, '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/speech-delay', 'display_name': 'Speech delay', 'score': 0.68681395}, {'id': 'https://openalex.org/keywords/copy-number-variation', 'display_name': 'Copy Number Variation', 'score': 0.499679}, {'id': 'https://openalex.org/keywords/comparative-genomic-hybridization', 'display_name': 'Comparative genomic hybridization', 'score': 0.49443388}, {'id': 'https://openalex.org/keywords/global-developmental-delay', 'display_name': 'Global developmental delay', 'score': 0.47191265}], 'concepts': [{'id': 'https://openalex.org/C205778803', 'wikidata': 'https://www.wikidata.org/wiki/Q38404', 'display_name': 'Autism', 'level': 2, 'score': 0.837742}, {'id': 'https://openalex.org/C120821319', 'wikidata': 'https://www.wikidata.org/wiki/Q1501491', 'display_name': 'Copy-number variation', 'level': 4, 'score': 0.77716756}, {'id': 'https://openalex.org/C7602840', 'wikidata': 'https://www.wikidata.org/wiki/Q746284', 'display_name': 'Gene duplication', 'level': 3, 'score': 0.70822775}, {'id': 'https://openalex.org/C2779688443', 'wikidata': 'https://www.wikidata.org/wiki/Q2301465', 'display_name': 'Speech delay', 'level': 2, 'score': 0.68681395}, {'id': 'https://openalex.org/C54355233', 'wikidata': 'https://www.wikidata.org/wiki/Q7162', 'display_name': 'Genetics', 'level': 1, 'score': 0.6330397}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.5472675}, {'id': 'https://openalex.org/C2777871287', 'wikidata': 'https://www.wikidata.org/wiki/Q7502090', 'display_name': 'Short stature', 'level': 2, 'score': 0.54603684}, {'id': 'https://openalex.org/C551499885', 'wikidata': 'https://www.wikidata.org/wiki/Q183560', 'display_name': 'Intellectual disability', 'level': 2, 'score': 0.5156313}, {'id': 'https://openalex.org/C124942203', 'wikidata': 'https://www.wikidata.org/wiki/Q656638', 'display_name': 'Comparative genomic hybridization', 'level': 4, 'score': 0.49443388}, {'id': 'https://openalex.org/C2779674439', 'wikidata': 'https://www.wikidata.org/wiki/Q25312637', 'display_name': 'Global developmental delay', 'level': 4, 'score': 0.47191265}, {'id': 'https://openalex.org/C2778186239', 'wikidata': 'https://www.wikidata.org/wiki/Q41571', 'display_name': 'Epilepsy', 'level': 2, 'score': 0.4710279}, {'id': 'https://openalex.org/C2779546488', 'wikidata': 'https://www.wikidata.org/wiki/Q1753547', 'display_name': 'Hypotonia', 'level': 2, 'score': 0.4296848}, {'id': 'https://openalex.org/C2778538070', 'wikidata': 'https://www.wikidata.org/wiki/Q1436063', 'display_name': 'Autism spectrum disorder', 'level': 3, 'score': 0.42779565}, {'id': 'https://openalex.org/C104317684', 'wikidata': 'https://www.wikidata.org/wiki/Q7187', 'display_name': 'Gene', 'level': 2, 'score': 0.40595114}, {'id': 'https://openalex.org/C127716648', 'wikidata': 'https://www.wikidata.org/wiki/Q104053', 'display_name': 'Phenotype', 'level': 3, 'score': 0.40146756}, {'id': 'https://openalex.org/C71924100', 'wikidata': 'https://www.wikidata.org/wiki/Q11190', 'display_name': 'Medicine', 'level': 0, 'score': 0.20567918}, {'id': 'https://openalex.org/C141231307', 'wikidata': 'https://www.wikidata.org/wiki/Q7020', 'display_name': 'Genome', 'level': 3, 'score': 0.18450221}, {'id': 'https://openalex.org/C134018914', 'wikidata': 'https://www.wikidata.org/wiki/Q162606', 'display_name': 'Endocrinology', 'level': 1, 'score': 0.088630825}, {'id': 'https://openalex.org/C169760540', 'wikidata': 'https://www.wikidata.org/wiki/Q207011', 'display_name': 'Neuroscience', 'level': 1, 'score': 0.08649686}, {'id': 'https://openalex.org/C118552586', 'wikidata': 'https://www.wikidata.org/wiki/Q7867', 'display_name': 'Psychiatry', 'level': 1, 'score': 0.07057586}], 'mesh': [{'descriptor_ui': 'D002659', 'descriptor_name': 'Child Development Disorders, Pervasive', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D056915', 'descriptor_name': 'DNA Copy Number Variations', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D056726', 'descriptor_name': 'Genetic Association Studies', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D014314', 'descriptor_name': 'Trisomy', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D002648', 'descriptor_name': 'Child', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D002659', 'descriptor_name': 'Child Development Disorders, Pervasive', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D002659', 'descriptor_name': 'Child Development Disorders, Pervasive', 'qualifier_ui': 'Q000175', 'qualifier_name': 'diagnosis', 'is_major_topic': False}, {'descriptor_ui': 'D002887', 'descriptor_name': 'Chromosomes, Human, Pair 18', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D055028', 'descriptor_name': 'Comparative Genomic Hybridization', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D019066', 'descriptor_name': 'Facies', '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': '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/10.1016/j.ejmg.2013.05.006', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S160362754', 'display_name': 'European Journal of Medical Genetics', 'issn_l': '1769-7212', 'issn': ['1769-7212', '1878-0849'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320990', 'host_organization_name': 'Elsevier BV', 'host_organization_lineage': ['https://openalex.org/P4310320990'], 'host_organization_lineage_names': ['Elsevier BV'], '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/23727450', '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': 'Quality education', 'score': 0.41, 'id': 'https://metadata.un.org/sdg/4'}], 'grants': [{'funder': 'https://openalex.org/F4320334506', 'funder_display_name': 'Canadian Institutes of Health Research', 'award_id': None}], 'datasets': [], 'versions': [], 'referenced_works_count': 25, 'referenced_works': ['https://openalex.org/W1964358779', 'https://openalex.org/W1970848271', 'https://openalex.org/W1971321176', 'https://openalex.org/W1984120803', 'https://openalex.org/W1996007286', 'https://openalex.org/W2019756741', 'https://openalex.org/W2026528260', 'https://openalex.org/W2036841261', 'https://openalex.org/W2039507753', 'https://openalex.org/W2043223259', 'https://openalex.org/W2052401787', 'https://openalex.org/W2052628586', 'https://openalex.org/W2057126702', 'https://openalex.org/W2073062083', 'https://openalex.org/W2080287250', 'https://openalex.org/W2094453374', 'https://openalex.org/W2106982327', 'https://openalex.org/W2115316120', 'https://openalex.org/W2116753165', 'https://openalex.org/W2127139027', 'https://openalex.org/W2128016314', 'https://openalex.org/W2145055578', 'https://openalex.org/W2148468839', 'https://openalex.org/W2150565403', 'https://openalex.org/W4298357390'], 'related_works': ['https://openalex.org/W4390569840', 'https://openalex.org/W4378714350', 'https://openalex.org/W4310692000', 'https://openalex.org/W4296995089', 'https://openalex.org/W4205761507', 'https://openalex.org/W3201503548', 'https://openalex.org/W3094919214', 'https://openalex.org/W3040790123', 'https://openalex.org/W2588722059', 'https://openalex.org/W2134953621'], 'abstract_inverted_index': {'Autism': [0], 'Spectrum': [1], 'Disorders': [2], '(ASD)': [3], 'are': [4, 122], 'complex': [5, 182], 'neurodevelopmental': [6], 'conditions': [7], 'characterized': [8], 'by': [9], 'delays': [10], 'in': [11, 35, 136, 144, 207], 'social': [12], 'interactions': [13], 'and': [14, 37, 49, 70, 81, 92, 114, 120, 133, 139, 141, 177, 184, 189], 'communication': [15], 'as': [16, 18, 30], 'well': [17], 'displays': [19, 64], 'of': [20, 83, 88, 210], 'restrictive/repetitive': [21], 'interests.': [22], 'DNA': [23], 'copy': [24], 'number': [25], 'variants': [26], 'have': [27], 'been': [28], 'identified': [29, 95], 'a': [31, 44, 55], 'genomic': [32, 125], 'susceptibility': [33], 'factor': [34], 'ASDs': [36], 'imply': [38], 'significant': [39, 84], 'genetic': [40], 'heterogeneity.': [41], 'We': [42, 157], 'report': [43], '7-year-old': [45], 'female': [46], 'with': [47, 102, 124], 'ADOS-G': [48], 'ADI-R': [50], 'confirmed': [51], 'autistic': [52], 'disorder': [53], 'harbouring': [54], 'de': [56], 'novo': [57], '4': [58, 96], 'Mb': [59], 'duplication': [60, 137], '(18q12.1).': [61], 'Our': [62], 'subject': [63], 'severely': [65], 'deficient': [66], 'expressive': [67], 'language,': [68], 'stereotypic': [69], 'repetitive': [71], 'behaviours,': [72], 'mild': [73], 'intellectual': [74], 'disability': [75], '(ID),': [76], 'focal': [77], 'epilepsy,': [78], 'short': [79, 134], 'stature': [80, 135, 143], 'absence': [82], 'dysmorphic': [85, 149], 'features.': [86], 'Search': [87], 'the': [89, 154, 170, 208], 'PubMed': [90], 'literature': [91], 'DECIPHER': [93], 'database': [94], 'additional': [97], 'cases': [98], 'involving': [99], '18q12.1': [100, 195], 'associated': [101, 206], 'autism': [103, 119], 'and/or': [104], 'ID': [105, 121], 'that': [106, 197], 'overlap': [107], 'our': [108], 'case:': [109], 'one': [110, 115], 'duplication,': [111], 'two': [112], 'deletions': [113], 'balanced': [116], 'translocation.': [117], 'Notably,': [118], 'seen': [123], 'gain': [126], 'or': [127, 200], 'loss': [128], 'at': [129], '18q12.1,': [130, 165], 'plus': [131], 'epilepsy': [132], 'cases,': [138], 'hypotonia': [140], 'tall': [142], 'deletion': [145], 'cases.': [146, 156], 'No': [147], 'consistent': [148], 'features': [150, 191], 'were': [151], 'noted': [152], 'amongst': [153], 'reviewed': [155], 'review': [158], 'prospective': [159], 'ASD/ID': [160], 'candidate': [161], 'genes': [162], 'integral': [163], 'to': [164, 193], 'including': [166], 'those': [167], 'coding': [168], 'for': [169], 'desmocollin/desmoglein': [171], 'cluster,': [172], 'ring': [173], 'finger': [174], 'proteins': [175], '125': [176], '138,': [178], 'trafficking': [179], 'protein': [180], 'particle': [181], '8': [183], 'dystrobrevin-alpha.': [185], 'The': [186], 'collective': [187], 'clinical': [188], 'molecular': [190], 'common': [192], 'microduplication': [194], 'suggest': [196], 'dosage-sensitive,': [198], 'position': [199], 'contiguous': [201], 'gene': [202], 'effects': [203], 'may': [204], 'be': [205], 'etiopathogenesis': [209], 'this': [211], 'autism-ID-epilepsy': [212], 'syndrome.': [213]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W2011146990', 'counts_by_year': [{'year': 2023, 'cited_by_count': 2}, {'year': 2021, 'cited_by_count': 1}, {'year': 2020, 'cited_by_count': 1}, {'year': 2017, 'cited_by_count': 2}, {'year': 2015, 'cited_by_count': 4}, {'year': 2014, 'cited_by_count': 1}], 'updated_date': '2024-09-17T08:30:05.898971', 'created_date': '2016-06-24'}