{"id":"https://openalex.org/W3000401282","doi":"https://doi.org/10.1002/ajmg.a.61477","title":"Morphological characterization of newborns in Kinshasa, DR Congo: Common variants, minor, and major anomalies","display_name":"Morphological characterization of newborns in Kinshasa, DR Congo: Common variants, minor, and major anomalies","publication_year":2020,"publication_date":"2020-01-07","ids":{"openalex":"https://openalex.org/W3000401282","doi":"https://doi.org/10.1002/ajmg.a.61477","mag":"3000401282","pmid":"https://pubmed.ncbi.nlm.nih.gov/31912658"},"language":"en","primary_location":{"id":"doi:10.1002/ajmg.a.61477","doi":"https://doi.org/10.1002/ajmg.a.61477","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ajmg.a.61477","pdf_url":null,"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,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-3","vabb-shw"],"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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American Journal of Medical Genetics Part A","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5049677201","display_name":"Gerrye Lumbono Mubungu","orcid":"https://orcid.org/0000-0002-8870-0575","observed_orcids":["https://orcid.org/0000-0002-8870-0575"]},"institutions":[{"id":"https://openalex.org/I2800231306","display_name":"Universitair Ziekenhuis Leuven","ror":"https://ror.org/0424bsv16","country_code":"BE","type":"healthcare","lineage":["https://openalex.org/I2800231306"]},{"id":"https://openalex.org/I34942010","display_name":"University of Kinshasa","ror":"https://ror.org/05rrz2q74","country_code":"CD","type":"education","lineage":["https://openalex.org/I34942010"]},{"id":"https://openalex.org/I99464096","display_name":"KU Leuven","ror":"https://ror.org/05f950310","country_code":"BE","type":"education","lineage":["https://openalex.org/I99464096"]}],"countries":["BE","CD"],"is_corresponding":false,"raw_author_name":"Gerrye Mubungu","raw_affiliation_strings":["Centre for Human Genetics, University Hospitals University of Leuven  Leuven Belgium","Faculty of Medicine, Centre for Human Genetics University of Kinshasa  Kinshasa DR Congo","Faculty of Medicine, Department of Pediatrics University of Kinshasa  Kinshasa DR Congo","Centre for Human Genetics, University Hospitals, University of Leuven, Leuven, Belgium","Faculty of Medicine, Centre for Human Genetics, University of Kinshasa, Kinshasa, DR Congo","Faculty of Medicine, Department of Pediatrics, University of Kinshasa, Kinshasa, DR Congo"],"raw_orcid":"https://orcid.org/0000-0002-8870-0575","affiliations":[{"raw_affiliation_string":"Centre for Human Genetics, University Hospitals University of Leuven  Leuven Belgium","institution_ids":["https://openalex.org/I2800231306","https://openalex.org/I99464096"]},{"raw_affiliation_string":"Faculty of Medicine, Centre for Human Genetics University of Kinshasa  Kinshasa DR Congo","institution_ids":["https://openalex.org/I34942010"]},{"raw_affiliation_string":"Faculty of Medicine, Department of Pediatrics University of Kinshasa  Kinshasa DR Congo","institution_ids":["https://openalex.org/I34942010"]},{"raw_affiliation_string":"Centre for Human Genetics, University Hospitals, University of Leuven, Leuven, Belgium","institution_ids":["https://openalex.org/I99464096"]},{"raw_affiliation_string":"Faculty of Medicine, Centre for Human Genetics, University of Kinshasa, Kinshasa, DR Congo","institution_ids":["https://openalex.org/I34942010"]},{"raw_affiliation_string":"Faculty of Medicine, Department of Pediatrics, University of Kinshasa, Kinshasa, DR Congo","institution_ids":["https://openalex.org/I34942010"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5024006244","display_name":"Aim\u00e9 Zola Lumaka","orcid":"https://orcid.org/0000-0002-5468-8678","observed_orcids":["https://orcid.org/0000-0002-5468-8678"]},"institutions":[{"id":"https://openalex.org/I157674565","display_name":"University of Li\u00e8ge","ror":"https://ror.org/00afp2z80","country_code":"BE","type":"education","lineage":["https://openalex.org/I157674565"]},{"id":"https://openalex.org/I34942010","display_name":"University of Kinshasa","ror":"https://ror.org/05rrz2q74","country_code":"CD","type":"education","lineage":["https://openalex.org/I34942010"]},{"id":"https://openalex.org/I4210135018","display_name":"National Institute of Biomedical Research","ror":"https://ror.org/03qyfje32","country_code":"CD","type":"government","lineage":["https://openalex.org/I4210135018"]}],"countries":["BE","CD"],"is_corresponding":false,"raw_author_name":"Aim\u00e9 Lumaka","raw_affiliation_strings":["D\u00e9partement des Sciences Biom\u00e9dicales et Pr\u00e9cliniques, GIGA\u2010R, Laboratoire de G\u00e9n\u00e9tique Humaine University of Li\u00e8ge  Li\u00e8ge Belgium","Faculty of Medicine, Centre for Human Genetics University of Kinshasa  Kinshasa DR Congo","Faculty of Medicine, Department of Pediatrics University of Kinshasa  Kinshasa DR Congo","Institut National de Recherche Biom\u00e9dicale  Kinshasa DR Congo","Faculty of Medicine, Centre for Human Genetics, University of Kinshasa, Kinshasa, DR Congo","Faculty of Medicine, Department of Pediatrics, University of Kinshasa, Kinshasa, DR Congo"],"raw_orcid":"https://orcid.org/0000-0002-5468-8678","affiliations":[{"raw_affiliation_string":"D\u00e9partement des Sciences Biom\u00e9dicales et Pr\u00e9cliniques, GIGA\u2010R, Laboratoire de G\u00e9n\u00e9tique Humaine University of Li\u00e8ge  Li\u00e8ge Belgium","institution_ids":["https://openalex.org/I157674565"]},{"raw_affiliation_string":"Faculty of Medicine, Centre for Human Genetics University of Kinshasa  Kinshasa DR Congo","institution_ids":["https://openalex.org/I34942010"]},{"raw_affiliation_string":"Faculty of Medicine, Department of Pediatrics University of Kinshasa  Kinshasa DR Congo","institution_ids":["https://openalex.org/I34942010"]},{"raw_affiliation_string":"Institut National de Recherche Biom\u00e9dicale  Kinshasa DR Congo","institution_ids":["https://openalex.org/I4210135018"]},{"raw_affiliation_string":"Faculty of Medicine, Centre for Human Genetics, University of Kinshasa, Kinshasa, DR Congo","institution_ids":["https://openalex.org/I34942010"]},{"raw_affiliation_string":"Faculty of Medicine, Department of Pediatrics, University of Kinshasa, Kinshasa, DR Congo","institution_ids":["https://openalex.org/I34942010"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050260211","display_name":"Nono M. Mvuama","orcid":"https://orcid.org/0000-0003-2046-5836","observed_orcids":["https://orcid.org/0000-0003-2046-5836"]},"institutions":[{"id":"https://openalex.org/I4405259637","display_name":"Ecole de sant\u00e9 publique de Kinshasa","ror":"https://ror.org/02g0e3a49","country_code":"CD","type":"education","lineage":["https://openalex.org/I34942010","https://openalex.org/I4405259637"]}],"countries":["CD"],"is_corresponding":false,"raw_author_name":"Nono Mvuama","raw_affiliation_strings":["Department of Health Environment Kinshasa School of Public Health  Kinshasa DR Congo","Department of Health Environment, Kinshasa School of Public Health, Kinshasa, DR Congo"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Health Environment Kinshasa School of Public Health  Kinshasa DR Congo","institution_ids":["https://openalex.org/I4405259637"]},{"raw_affiliation_string":"Department of Health Environment, Kinshasa School of Public Health, Kinshasa, DR Congo","institution_ids":["https://openalex.org/I4405259637"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085230483","display_name":"Dahlie Tshika","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I34942010","display_name":"University of Kinshasa","ror":"https://ror.org/05rrz2q74","country_code":"CD","type":"education","lineage":["https://openalex.org/I34942010"]}],"countries":["CD"],"is_corresponding":false,"raw_author_name":"Dahlie Tshika","raw_affiliation_strings":["Faculty of Medicine, Centre for Human Genetics University of Kinshasa  Kinshasa DR Congo","Faculty of Medicine, Department of Pediatrics University of Kinshasa  Kinshasa DR Congo","Faculty of Medicine, Centre for Human Genetics, University of Kinshasa, Kinshasa, DR Congo","Faculty of Medicine, Department of Pediatrics, University of Kinshasa, Kinshasa, DR Congo"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Faculty of Medicine, Centre for Human Genetics University of Kinshasa  Kinshasa DR Congo","institution_ids":["https://openalex.org/I34942010"]},{"raw_affiliation_string":"Faculty of Medicine, Department of Pediatrics University of Kinshasa  Kinshasa DR Congo","institution_ids":["https://openalex.org/I34942010"]},{"raw_affiliation_string":"Faculty of Medicine, Centre for Human Genetics, University of Kinshasa, Kinshasa, DR Congo","institution_ids":["https://openalex.org/I34942010"]},{"raw_affiliation_string":"Faculty of Medicine, Department of Pediatrics, University of Kinshasa, Kinshasa, DR Congo","institution_ids":["https://openalex.org/I34942010"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5018273638","display_name":"Prince Makay","orcid":"https://orcid.org/0000-0002-2910-9590","observed_orcids":["https://orcid.org/0000-0002-2910-9590"]},"institutions":[{"id":"https://openalex.org/I34942010","display_name":"University of Kinshasa","ror":"https://ror.org/05rrz2q74","country_code":"CD","type":"education","lineage":["https://openalex.org/I34942010"]}],"countries":["CD"],"is_corresponding":false,"raw_author_name":"Prince Makay","raw_affiliation_strings":["Faculty of Medicine, Centre for Human Genetics University of Kinshasa  Kinshasa DR Congo","Faculty of Medicine, Department of Pediatrics University of Kinshasa  Kinshasa DR Congo","Faculty of Medicine, Centre for Human Genetics, University of Kinshasa, Kinshasa, DR Congo","Faculty of Medicine, Department of Pediatrics, University of Kinshasa, Kinshasa, DR Congo"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Faculty of Medicine, Centre for Human Genetics University of Kinshasa  Kinshasa DR Congo","institution_ids":["https://openalex.org/I34942010"]},{"raw_affiliation_string":"Faculty of Medicine, Department of Pediatrics University of Kinshasa  Kinshasa DR Congo","institution_ids":["https://openalex.org/I34942010"]},{"raw_affiliation_string":"Faculty of Medicine, Centre for Human Genetics, University of Kinshasa, Kinshasa, DR Congo","institution_ids":["https://openalex.org/I34942010"]},{"raw_affiliation_string":"Faculty of Medicine, Department of Pediatrics, University of Kinshasa, Kinshasa, DR Congo","institution_ids":["https://openalex.org/I34942010"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5046736618","display_name":"Prosper Lukusa-Tshilobo","orcid":"https://orcid.org/0000-0002-5414-2915","observed_orcids":["https://orcid.org/0000-0002-5414-2915"]},"institutions":[{"id":"https://openalex.org/I2800231306","display_name":"Universitair Ziekenhuis Leuven","ror":"https://ror.org/0424bsv16","country_code":"BE","type":"healthcare","lineage":["https://openalex.org/I2800231306"]},{"id":"https://openalex.org/I34942010","display_name":"University of Kinshasa","ror":"https://ror.org/05rrz2q74","country_code":"CD","type":"education","lineage":["https://openalex.org/I34942010"]},{"id":"https://openalex.org/I4210135018","display_name":"National Institute of Biomedical Research","ror":"https://ror.org/03qyfje32","country_code":"CD","type":"government","lineage":["https://openalex.org/I4210135018"]},{"id":"https://openalex.org/I99464096","display_name":"KU Leuven","ror":"https://ror.org/05f950310","country_code":"BE","type":"education","lineage":["https://openalex.org/I99464096"]}],"countries":["BE","CD"],"is_corresponding":false,"raw_author_name":"Prosper Lukusa Tshilobo","raw_affiliation_strings":["Centre for Human Genetics, University Hospitals University of Leuven  Leuven Belgium","Faculty of Medicine, Centre for Human Genetics University of Kinshasa  Kinshasa DR Congo","Faculty of Medicine, Department of Pediatrics University of Kinshasa  Kinshasa DR Congo","Institut National de Recherche Biom\u00e9dicale  Kinshasa DR Congo","Centre for Human Genetics, University Hospitals, University of Leuven, Leuven, Belgium","Faculty of Medicine, Centre for Human Genetics, University of Kinshasa, Kinshasa, DR Congo","Faculty of Medicine, Department of Pediatrics, University of Kinshasa, Kinshasa, DR Congo"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre for Human Genetics, University Hospitals University of Leuven  Leuven Belgium","institution_ids":["https://openalex.org/I2800231306","https://openalex.org/I99464096"]},{"raw_affiliation_string":"Faculty of Medicine, Centre for Human Genetics University of Kinshasa  Kinshasa DR Congo","institution_ids":["https://openalex.org/I34942010"]},{"raw_affiliation_string":"Faculty of Medicine, Department of Pediatrics University of Kinshasa  Kinshasa DR Congo","institution_ids":["https://openalex.org/I34942010"]},{"raw_affiliation_string":"Institut National de Recherche Biom\u00e9dicale  Kinshasa DR Congo","institution_ids":["https://openalex.org/I4210135018"]},{"raw_affiliation_string":"Centre for Human Genetics, University Hospitals, University of Leuven, Leuven, Belgium","institution_ids":["https://openalex.org/I99464096"]},{"raw_affiliation_string":"Faculty of Medicine, Centre for Human Genetics, University of Kinshasa, Kinshasa, DR Congo","institution_ids":["https://openalex.org/I34942010"]},{"raw_affiliation_string":"Faculty of Medicine, Department of Pediatrics, University of Kinshasa, Kinshasa, DR Congo","institution_ids":["https://openalex.org/I34942010"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5073467702","display_name":"Koenraad Devriendt","orcid":"https://orcid.org/0000-0002-3651-2548","observed_orcids":["https://orcid.org/0000-0002-3651-2548"]},"institutions":[{"id":"https://openalex.org/I2800231306","display_name":"Universitair Ziekenhuis Leuven","ror":"https://ror.org/0424bsv16","country_code":"BE","type":"healthcare","lineage":["https://openalex.org/I2800231306"]},{"id":"https://openalex.org/I99464096","display_name":"KU Leuven","ror":"https://ror.org/05f950310","country_code":"BE","type":"education","lineage":["https://openalex.org/I99464096"]}],"countries":["BE"],"is_corresponding":true,"raw_author_name":"Koenraad Devriendt","raw_affiliation_strings":["Centre for Human Genetics, University Hospitals University of Leuven  Leuven Belgium","Centre for Human Genetics, University Hospitals, University of Leuven, Leuven, Belgium"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre for Human Genetics, University Hospitals University of Leuven  Leuven Belgium","institution_ids":["https://openalex.org/I2800231306","https://openalex.org/I99464096"]},{"raw_affiliation_string":"Centre for Human Genetics, University Hospitals, University of Leuven, Leuven, Belgium","institution_ids":["https://openalex.org/I99464096"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":6,"corresponding_author_ids":["https://openalex.org/A5073467702"],"corresponding_institution_ids":["https://openalex.org/I2800231306","https://openalex.org/I99464096"],"apc_list":{"value":3600,"currency":"USD","value_usd":3600},"apc_paid":null,"fwci":0.3921,"has_fulltext":false,"cited_by_count":5,"citation_normalized_percentile":{"value":0.5548633,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":95},"biblio":{"volume":"182","issue":"4","first_page":"632","last_page":"639"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.41940000653266907,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.41940000653266907,"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/T12716","display_name":"Congenital Anomalies and Fetal Surgery","score":0.3977000117301941,"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/T13107","display_name":"Congenital limb and hand anomalies","score":0.04639999940991402,"subfield":{"id":"https://openalex.org/subfields/1309","display_name":"Developmental 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/newborns","display_name":"neonates","score":0.6019999980926514},{"id":"https://openalex.org/keywords/minor-physical-anomalies","display_name":"minor physical anomalies","score":0.8040000200271606},{"id":"https://openalex.org/keywords/morphological-variants","display_name":"morphological variants","score":0.6949999928474426},{"id":"https://openalex.org/keywords/dysmorphology","display_name":"dysmorphology","score":0.8339999914169312},{"id":"https://openalex.org/keywords/common-genetic-variants","display_name":"common genetic variants","score":0.4659999907016754},{"id":"https://openalex.org/keywords/human-phenotype-ontology","display_name":"Human Phenotype Ontology","score":0.7350000143051147},{"id":"https://openalex.org/keywords/kinshasa","display_name":"Kinshasa","score":0.7450000047683716}],"concepts":[{"id":"https://openalex.org/C2779760435","wikidata":"https://www.wikidata.org/wiki/Q5396169","display_name":"Minor (academic)","level":2,"score":0.6936168670654297},{"id":"https://openalex.org/C61511704","wikidata":"https://www.wikidata.org/wiki/Q1671857","display_name":"Incidence (geometry)","level":2,"score":0.5749220252037048},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3977510631084442},{"id":"https://openalex.org/C15708023","wikidata":"https://www.wikidata.org/wiki/Q80083","display_name":"Humanities","level":1,"score":0.11846283078193665},{"id":"https://openalex.org/C138885662","wikidata":"https://www.wikidata.org/wiki/Q5891","display_name":"Philosophy","level":0,"score":0.0},{"id":"https://openalex.org/C121332964","wikidata":"https://www.wikidata.org/wiki/Q413","display_name":"Physics","level":0,"score":0.0},{"id":"https://openalex.org/C120665830","wikidata":"https://www.wikidata.org/wiki/Q14620","display_name":"Optics","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003430","descriptor_name":"Cross-Sectional Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003430","descriptor_name":"Cross-Sectional Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003430","descriptor_name":"Cross-Sectional Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007231","descriptor_name":"Infant, Newborn","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007231","descriptor_name":"Infant, Newborn","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007231","descriptor_name":"Infant, Newborn","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010808","descriptor_name":"Physical Examination","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010808","descriptor_name":"Physical Examination","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010808","descriptor_name":"Physical Examination","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015023","descriptor_name":"Democratic Republic of the Congo","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D015023","descriptor_name":"Democratic Republic of the Congo","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D015023","descriptor_name":"Democratic Republic of the Congo","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D015994","descriptor_name":"Incidence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015994","descriptor_name":"Incidence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015994","descriptor_name":"Incidence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D055815","descriptor_name":"Young Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D055815","descriptor_name":"Young Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D055815","descriptor_name":"Young Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1002/ajmg.a.61477","doi":"https://doi.org/10.1002/ajmg.a.61477","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ajmg.a.61477","pdf_url":null,"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,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-3","vabb-shw"],"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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American Journal of Medical Genetics Part A","raw_type":"journal-article"},{"id":"pmid:31912658","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/31912658","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American journal of medical genetics. Part A","raw_type":"Journal Article"},{"id":"pmh:oai:lirias2repo.kuleuven.be:123456789/652141","doi":null,"is_oa":false,"landing_page_url":"https://lirias.kuleuven.be/bitstream/123456789/652141/2/Gerrye%20Mubungo%20Medical%20Genetics%20Wiley.pdf","pdf_url":null,"source":{"id":"https://openalex.org/S7407055369","display_name":"Lirias","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"American Journal Of Medical Genetics Part A, vol. 182 (4), (632-639)","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:orbi.ulg.ac.be:2268/243861","doi":null,"is_oa":false,"landing_page_url":"https://orbi.uliege.be/handle/2268/243861","pdf_url":null,"source":{"id":"https://openalex.org/S4306400651","display_name":"Open Repository and Bibliography (University of Li\u00e8ge)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I157674565","host_organization_name":"University of Li\u00e8ge","host_organization_lineage":["https://openalex.org/I157674565"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"American Journal of Medical Genetics. Part A (2020)","raw_type":"http://purl.org/coar/resource_type/c_6501"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9391000270843506,"id":"https://metadata.un.org/sdg/3"}],"sustainable_development_goals_aurora":[],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320322308","display_name":"KU Leuven","ror":"https://ror.org/05f950310"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":20,"referenced_works":["https://openalex.org/W73919983","https://openalex.org/W105623059","https://openalex.org/W1616732986","https://openalex.org/W1987681493","https://openalex.org/W2015619132","https://openalex.org/W2038812644","https://openalex.org/W2043379997","https://openalex.org/W2058120450","https://openalex.org/W2125614047","https://openalex.org/W2133045998","https://openalex.org/W2312873702","https://openalex.org/W2417742178","https://openalex.org/W2741378515","https://openalex.org/W2795657693","https://openalex.org/W2901332105","https://openalex.org/W3000401282","https://openalex.org/W3024003242","https://openalex.org/W4244801809","https://openalex.org/W4253702755","https://openalex.org/W6826455034"],"related_works":["https://openalex.org/W2748952813","https://openalex.org/W3031052312","https://openalex.org/W4389568370","https://openalex.org/W3032375762","https://openalex.org/W1995515455","https://openalex.org/W2080531066","https://openalex.org/W3108674512","https://openalex.org/W1506200166","https://openalex.org/W1489783725","https://openalex.org/W2148612803"],"abstract_inverted_index":{"The":[0,132],"evaluation":[1],"of":[2,19,36,45,63,78,85,92,116,126,134],"minor":[3,20,97,106],"physical":[4,21],"variation":[5,143],"is":[6,27],"crucial":[7],"in":[8,23,47,51,65,144],"a":[9,32],"dysmorphological":[10],"examination.":[11],"Currently,":[12],"data":[13],"on":[14],"the":[15,41,61,93,114,123,129],"spectrum":[16],"and":[17,69,102],"incidence":[18,115],"variants":[22,82],"Central":[24,145],"African":[25,146],"newborns":[26,38],"lacking.":[28],"We":[29],"therefore":[30],"conducted":[31],"cross-sectional":[33],"descriptive":[34],"study":[35,136],"722":[37],"recruited":[39],"within":[40,128],"first":[42],"24":[43],"hr":[44],"life,":[46],"two":[48],"large":[49],"maternities":[50],"Kinshasa,":[52],"DR":[53,130],"Congo.":[54,131],"Minor":[55],"anomalies":[56,118],"were":[57,83,88,111],"defined":[58],"according":[59],"to":[60,120,140],"series":[62],"articles":[64],"AJMG":[66],"Part":[67],"A":[68,76],"coded":[70],"as":[71],"human":[72],"phenotype":[73],"ontology":[74],"terms.":[75],"total":[77],"97":[79],"different":[80],"morphological":[81,142],"recorded":[84],"which":[86],"13":[87],"common.":[89],"About":[90],"34.8%":[91],"newborn":[94],"carried":[95],"one":[96],"anomaly,":[98],"11.6%":[99],"had":[100,104],"two,":[101],"4.3%":[103],"three":[105],"anomalies.":[107],"No":[108],"gender":[109],"differences":[110],"observed,":[112],"but":[113],"specific":[117],"appeared":[119],"vary":[121],"with":[122],"geographical":[124],"origin":[125],"parents":[127],"results":[133],"this":[135],"will":[137],"aid":[138],"clinicians":[139],"interpret":[141],"newborns.":[147]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2020,"cited_by_count":2}],"updated_date":"2026-10-14T16:39:01.820549","created_date":"2025-10-10T00:00:00"}
