{"id":"https://openalex.org/W2014945217","doi":"https://doi.org/10.1038/ejhg.2014.150","title":"De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females","display_name":"De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females","publication_year":2014,"publication_date":"2014-08-06","ids":{"openalex":"https://openalex.org/W2014945217","doi":"https://doi.org/10.1038/ejhg.2014.150","mag":"2014945217","pmid":"https://pubmed.ncbi.nlm.nih.gov/25099252","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/4402627"},"language":"en","primary_location":{"id":"doi:10.1038/ejhg.2014.150","doi":"https://doi.org/10.1038/ejhg.2014.150","is_oa":true,"landing_page_url":"https://doi.org/10.1038/ejhg.2014.150","pdf_url":"https://www.nature.com/articles/ejhg2014150.pdf","source":{"id":"https://openalex.org/S121703463","display_name":"European Journal of Human Genetics","issn_l":"1018-4813","issn":["1018-4813","1476-5438"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":"cc-by-nc-sa","license_id":"https://openalex.org/licenses/cc-by-nc-sa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"European Journal of Human Genetics","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","datacite","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://www.nature.com/articles/ejhg2014150.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5067753808","display_name":"Bernt Popp","orcid":"https://orcid.org/0000-0002-3679-1081","observed_orcids":["https://orcid.org/0000-0002-3679-1081"]},"institutions":[{"id":"https://openalex.org/I181369854","display_name":"Friedrich-Alexander-Universit\u00e4t Erlangen-N\u00fcrnberg","ror":"https://ror.org/00f7hpc57","country_code":"DE","type":"education","lineage":["https://openalex.org/I181369854"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Bernt Popp","raw_affiliation_strings":["Institute of Human Genetics, Friedrich-Alexander-Universit\u00e4t Erlangen-N\u00fcrnberg, Erlangen, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Human Genetics, Friedrich-Alexander-Universit\u00e4t Erlangen-N\u00fcrnberg, Erlangen, Germany","institution_ids":["https://openalex.org/I181369854"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027097671","display_name":"Svein\u00a0Isungset St\u00f8ve","orcid":"https://orcid.org/0000-0002-4329-3961","observed_orcids":["https://orcid.org/0000-0002-4329-3961"]},"institutions":[{"id":"https://openalex.org/I2800740805","display_name":"Haukeland University Hospital","ror":"https://ror.org/03np4e098","country_code":"NO","type":"healthcare","lineage":["https://openalex.org/I2800740805"]},{"id":"https://openalex.org/I4432739","display_name":"University of Bergen","ror":"https://ror.org/03zga2b32","country_code":"NO","type":"education","lineage":["https://openalex.org/I4432739"]}],"countries":["NO"],"is_corresponding":false,"raw_author_name":"Svein I St\u00f8ve","raw_affiliation_strings":["1] Department of Molecular Biology, University of Bergen, Bergen, Norway [2] Department of Surgery, Haukeland University Hospital, Bergen, Norway"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1] Department of Molecular Biology, University of Bergen, Bergen, Norway [2] Department of Surgery, Haukeland University Hospital, Bergen, Norway","institution_ids":["https://openalex.org/I2800740805","https://openalex.org/I4432739"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5076433794","display_name":"Sabine U. Endele","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I181369854","display_name":"Friedrich-Alexander-Universit\u00e4t Erlangen-N\u00fcrnberg","ror":"https://ror.org/00f7hpc57","country_code":"DE","type":"education","lineage":["https://openalex.org/I181369854"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Sabine Endele","raw_affiliation_strings":["Institute of Human Genetics, Friedrich-Alexander-Universit\u00e4t Erlangen-N\u00fcrnberg, Erlangen, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Human Genetics, Friedrich-Alexander-Universit\u00e4t Erlangen-N\u00fcrnberg, Erlangen, Germany","institution_ids":["https://openalex.org/I181369854"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069005496","display_name":"Line Merethe Myklebust","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4432739","display_name":"University of Bergen","ror":"https://ror.org/03zga2b32","country_code":"NO","type":"education","lineage":["https://openalex.org/I4432739"]}],"countries":["NO"],"is_corresponding":false,"raw_author_name":"Line M Myklebust","raw_affiliation_strings":["Department of Molecular Biology, University of Bergen, Bergen, Norway"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Biology, University of Bergen, Bergen, Norway","institution_ids":["https://openalex.org/I4432739"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5033033652","display_name":"Juliane Hoyer","orcid":"https://orcid.org/0000-0002-9368-0767","observed_orcids":["https://orcid.org/0000-0002-9368-0767"]},"institutions":[{"id":"https://openalex.org/I181369854","display_name":"Friedrich-Alexander-Universit\u00e4t Erlangen-N\u00fcrnberg","ror":"https://ror.org/00f7hpc57","country_code":"DE","type":"education","lineage":["https://openalex.org/I181369854"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Juliane Hoyer","raw_affiliation_strings":["Institute of Human Genetics, Friedrich-Alexander-Universit\u00e4t Erlangen-N\u00fcrnberg, Erlangen, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Human Genetics, Friedrich-Alexander-Universit\u00e4t Erlangen-N\u00fcrnberg, Erlangen, Germany","institution_ids":["https://openalex.org/I181369854"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5065393453","display_name":"Heinrich Sticht","orcid":"https://orcid.org/0000-0001-5644-045X","observed_orcids":["https://orcid.org/0000-0001-5644-045X"]},"institutions":[{"id":"https://openalex.org/I181369854","display_name":"Friedrich-Alexander-Universit\u00e4t Erlangen-N\u00fcrnberg","ror":"https://ror.org/00f7hpc57","country_code":"DE","type":"education","lineage":["https://openalex.org/I181369854"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Heinrich Sticht","raw_affiliation_strings":["Institute of Biochemistry, Universit\u00e4t Erlangen-N\u00fcrnberg, Erlangen, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Biochemistry, Universit\u00e4t Erlangen-N\u00fcrnberg, Erlangen, Germany","institution_ids":["https://openalex.org/I181369854"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039221142","display_name":"Silvia Azzarello\u2010Burri","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I202697423","display_name":"University of Zurich","ror":"https://ror.org/02crff812","country_code":"CH","type":"education","lineage":["https://openalex.org/I202697423"]}],"countries":["CH"],"is_corresponding":false,"raw_author_name":"Silvia Azzarello-Burri","raw_affiliation_strings":["Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland","institution_ids":["https://openalex.org/I202697423"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5041254013","display_name":"Anita M. Rauch","orcid":"https://orcid.org/0000-0003-2930-3163","observed_orcids":["https://orcid.org/0000-0003-2930-3163"]},"institutions":[{"id":"https://openalex.org/I202697423","display_name":"University of Zurich","ror":"https://ror.org/02crff812","country_code":"CH","type":"education","lineage":["https://openalex.org/I202697423"]}],"countries":["CH"],"is_corresponding":false,"raw_author_name":"Anita Rauch","raw_affiliation_strings":["Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland","institution_ids":["https://openalex.org/I202697423"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5032682346","display_name":"Thomas Arnesen","orcid":"https://orcid.org/0000-0002-3005-147X","observed_orcids":["https://orcid.org/0000-0002-3005-147X"]},"institutions":[{"id":"https://openalex.org/I2800740805","display_name":"Haukeland University Hospital","ror":"https://ror.org/03np4e098","country_code":"NO","type":"healthcare","lineage":["https://openalex.org/I2800740805"]},{"id":"https://openalex.org/I4432739","display_name":"University of Bergen","ror":"https://ror.org/03zga2b32","country_code":"NO","type":"education","lineage":["https://openalex.org/I4432739"]}],"countries":["NO"],"is_corresponding":false,"raw_author_name":"Thomas Arnesen","raw_affiliation_strings":["1] Department of Molecular Biology, University of Bergen, Bergen, Norway [2] Department of Surgery, Haukeland University Hospital, Bergen, Norway"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1] Department of Molecular Biology, University of Bergen, Bergen, Norway [2] Department of Surgery, Haukeland University Hospital, Bergen, Norway","institution_ids":["https://openalex.org/I2800740805","https://openalex.org/I4432739"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5082130600","display_name":"Andr\u00e9 Reis","orcid":"https://orcid.org/0000-0002-6301-6363","observed_orcids":["https://orcid.org/0000-0002-6301-6363"]},"institutions":[{"id":"https://openalex.org/I181369854","display_name":"Friedrich-Alexander-Universit\u00e4t Erlangen-N\u00fcrnberg","ror":"https://ror.org/00f7hpc57","country_code":"DE","type":"education","lineage":["https://openalex.org/I181369854"]}],"countries":["DE"],"is_corresponding":true,"raw_author_name":"Andr\u00e9 Reis","raw_affiliation_strings":["Institute of Human Genetics, Friedrich-Alexander-Universit\u00e4t Erlangen-N\u00fcrnberg, Erlangen, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Human Genetics, Friedrich-Alexander-Universit\u00e4t Erlangen-N\u00fcrnberg, Erlangen, Germany","institution_ids":["https://openalex.org/I181369854"]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5082130600"],"corresponding_institution_ids":["https://openalex.org/I181369854"],"apc_list":{"value":2790,"currency":"USD","value_usd":2790},"apc_paid":{"value":2790,"currency":"USD","value_usd":2790},"fwci":4.2145,"has_fulltext":true,"cited_by_count":89,"citation_normalized_percentile":{"value":0.94924056,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":99},"biblio":{"volume":"23","issue":"5","first_page":"602","last_page":"609"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.6553000211715698,"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":0.6553000211715698,"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/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.3425000011920929,"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.0003000000142492354,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/naa10","display_name":"NAA10","score":0.9319999814033508},{"id":"https://openalex.org/keywords/de-novo-missense-variant","display_name":"de novo missense variant","score":0.7509999871253967},{"id":"https://openalex.org/keywords/non-syndromic-intellectual-disability","display_name":"non-syndromic intellectual disability","score":0.9490000009536743},{"id":"https://openalex.org/keywords/global-developmental-delay","display_name":"global developmental delay","score":0.9700000286102295},{"id":"https://openalex.org/keywords/n-terminal-acetylation","display_name":"N-terminal acetylation","score":0.9610000252723694},{"id":"https://openalex.org/keywords/hypomorphic-variants","display_name":"hypomorphic variants","score":0.6499999761581421},{"id":"https://openalex.org/keywords/phenotypic-severity","display_name":"phenotypic severity","score":0.699999988079071},{"id":"https://openalex.org/keywords/x-linked-disorders","display_name":"X-linked disorders","score":0.7139999866485596},{"id":"https://openalex.org/keywords/catalytic-activity","display_name":"catalytic activity","score":0.6759999990463257}],"concepts":[{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.8788554668426514},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.813123345375061},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7377955317497253},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6703851222991943},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.6069551706314087},{"id":"https://openalex.org/C10590036","wikidata":"https://www.wikidata.org/wiki/Q417664","display_name":"Exome","level":5,"score":0.5654104948043823},{"id":"https://openalex.org/C551499885","wikidata":"https://www.wikidata.org/wiki/Q183560","display_name":"Intellectual disability","level":2,"score":0.5379559993743896},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5101514458656311},{"id":"https://openalex.org/C2779649592","wikidata":"https://www.wikidata.org/wiki/Q2655970","display_name":"Acetyltransferase","level":4,"score":0.4412798285484314},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4227452874183655},{"id":"https://openalex.org/C2779674439","wikidata":"https://www.wikidata.org/wiki/Q25312637","display_name":"Global developmental delay","level":4,"score":0.41988837718963623},{"id":"https://openalex.org/C119157956","wikidata":"https://www.wikidata.org/wiki/Q796604","display_name":"Acetylation","level":3,"score":0.28436291217803955}],"mesh":[{"descriptor_ui":"D000595","descriptor_name":"Amino Acid Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002658","descriptor_name":"Developmental Disabilities","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D002658","descriptor_name":"Developmental Disabilities","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005091","descriptor_name":"Exons","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":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008958","descriptor_name":"Models, Molecular","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011487","descriptor_name":"Protein Conformation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016415","descriptor_name":"Sequence Alignment","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019066","descriptor_name":"Facies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D056426","descriptor_name":"Genetic Loci","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056726","descriptor_name":"Genetic Association Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D063209","descriptor_name":"N-Terminal Acetyltransferase A","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D063209","descriptor_name":"N-Terminal Acetyltransferase A","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D063213","descriptor_name":"N-Terminal Acetyltransferase E","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D063213","descriptor_name":"N-Terminal Acetyltransferase E","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false}],"locations_count":7,"locations":[{"id":"doi:10.1038/ejhg.2014.150","doi":"https://doi.org/10.1038/ejhg.2014.150","is_oa":true,"landing_page_url":"https://doi.org/10.1038/ejhg.2014.150","pdf_url":"https://www.nature.com/articles/ejhg2014150.pdf","source":{"id":"https://openalex.org/S121703463","display_name":"European Journal of Human Genetics","issn_l":"1018-4813","issn":["1018-4813","1476-5438"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":"cc-by-nc-sa","license_id":"https://openalex.org/licenses/cc-by-nc-sa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"European Journal of Human Genetics","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:4402627","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4402627","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"cc-by-nc-sa","license_id":"https://openalex.org/licenses/cc-by-nc-sa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Eur J Hum Genet","raw_type":"Text"},{"id":"pmid:25099252","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/25099252","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":"European journal of human genetics : EJHG","raw_type":"Case Reports"},{"id":"pmh:oai:www.zora.uzh.ch:99944","doi":null,"is_oa":true,"landing_page_url":"https://www.zora.uzh.ch/id/eprint/99944/1/Popp%20et%20al%2C%20De%20novo%20missense.pdf","pdf_url":"https://www.zora.uzh.ch/id/eprint/99944/1/Popp%20et%20al%2C%20De%20novo%20missense.pdf","source":{"id":"https://openalex.org/S4306401281","display_name":"Zurich Open Repository and Archive (University of Zurich)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I202697423","host_organization_name":"University of Zurich","host_organization_lineage":["https://openalex.org/I202697423"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"Popp, Bernt; St\u00f8ve, Svein I; Endele, Sabine; Myklebust, Line M; Hoyer, Juliane; Sticht, Heinrich; Azzarello-Burri, Silvia; Rauch, Anita; Arnesen, Thomas; Reis, Andr\u00e9 (2015). De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females. European Journal of Human Genetics, 23(5):602-609.","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:bora.uib.no:1956/10243","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/1956/10243","pdf_url":null,"source":{"id":"https://openalex.org/S7407064446","display_name":"NORA - Norwegian Open Research Archives","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":"cc-by-nc-sa","license_id":"https://openalex.org/licenses/cc-by-nc-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"European Journal of Human Genetics","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:www.zora.uzh.ch:20.500.14742/108159","doi":null,"is_oa":true,"landing_page_url":"https://www.zora.uzh.ch/handle/20.500.14742/108159","pdf_url":null,"source":{"id":"https://openalex.org/S4306401281","display_name":"Zurich Open Repository and Archive (University of Zurich)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I202697423","host_organization_name":"University of Zurich","host_organization_lineage":["https://openalex.org/I202697423"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-sa","license_id":"https://openalex.org/licenses/cc-by-nc-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Popp, B., St\u00f8ve, S. I., Endele, S., Myklebust, L. M., Hoyer, J., Sticht, H., Azzarello, S., Rauch, A., Arnesen, T., & Reis, A. (2015). De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females. European Journal of Human Genetics, 23, 602\u2013609. https://doi.org/10.1038/ejhg.2014.150","raw_type":"Journal Article"},{"id":"doi:10.5167/uzh-99944","doi":"https://doi.org/10.5167/uzh-99944","is_oa":true,"landing_page_url":"https://doi.org/10.5167/uzh-99944","pdf_url":null,"source":{"id":"https://openalex.org/S4306401281","display_name":"Zurich Open Repository and Archive (University of Zurich)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I202697423","host_organization_name":"University of Zurich","host_organization_lineage":["https://openalex.org/I202697423"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"JournalArticle"}],"best_oa_location":{"id":"doi:10.1038/ejhg.2014.150","doi":"https://doi.org/10.1038/ejhg.2014.150","is_oa":true,"landing_page_url":"https://doi.org/10.1038/ejhg.2014.150","pdf_url":"https://www.nature.com/articles/ejhg2014150.pdf","source":{"id":"https://openalex.org/S121703463","display_name":"European Journal of Human Genetics","issn_l":"1018-4813","issn":["1018-4813","1476-5438"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":"cc-by-nc-sa","license_id":"https://openalex.org/licenses/cc-by-nc-sa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"European Journal of Human Genetics","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.8048999905586243,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[{"id":"https://openalex.org/G6601716273","display_name":"Identification of novel autosomal genes causing mental retardation","funder_award_id":"135669","funder_id":"https://openalex.org/F4320320924","funder_display_name":"Schweizerischer Nationalfonds zur F\u00f6rderung der Wissenschaftlichen Forschung"},{"id":"https://openalex.org/G880118091","display_name":null,"funder_award_id":"320030","funder_id":"https://openalex.org/F4320320924","funder_display_name":"Schweizerischer Nationalfonds zur F\u00f6rderung der Wissenschaftlichen Forschung"}],"funders":[{"id":"https://openalex.org/F4320306076","display_name":"National Science Foundation","ror":"https://ror.org/021nxhr62"},{"id":"https://openalex.org/F4320310758","display_name":"Kreftforeningen","ror":"https://ror.org/01925vb10"},{"id":"https://openalex.org/F4320320924","display_name":"Schweizerischer Nationalfonds zur F\u00f6rderung der Wissenschaftlichen Forschung","ror":"https://ror.org/00yjd3n13"},{"id":"https://openalex.org/F4320323299","display_name":"Norges Forskningsr\u00e5d","ror":"https://ror.org/00epmv149"},{"id":"https://openalex.org/F4320323898","display_name":"Bergens Forskningsstiftelse","ror":"https://ror.org/04efaep75"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2014945217.pdf","grobid_xml":"https://content.openalex.org/works/W2014945217.grobid-xml"},"referenced_works_count":54,"referenced_works":["https://openalex.org/W105392238","https://openalex.org/W158285355","https://openalex.org/W1967363545","https://openalex.org/W1980740976","https://openalex.org/W1984068087","https://openalex.org/W1988670106","https://openalex.org/W1989140262","https://openalex.org/W1997746607","https://openalex.org/W1998988663","https://openalex.org/W1999160620","https://openalex.org/W2004500138","https://openalex.org/W2006117889","https://openalex.org/W2008206202","https://openalex.org/W2026258231","https://openalex.org/W2029132704","https://openalex.org/W2033750217","https://openalex.org/W2036841261","https://openalex.org/W2045376151","https://openalex.org/W2046173010","https://openalex.org/W2074597391","https://openalex.org/W2083195949","https://openalex.org/W2092171209","https://openalex.org/W2092949245","https://openalex.org/W2097986534","https://openalex.org/W2099589970","https://openalex.org/W2101516240","https://openalex.org/W2102467876","https://openalex.org/W2108234281","https://openalex.org/W2109027544","https://openalex.org/W2109372707","https://openalex.org/W2115236912","https://openalex.org/W2115558586","https://openalex.org/W2115930136","https://openalex.org/W2117131162","https://openalex.org/W2118200955","https://openalex.org/W2118961319","https://openalex.org/W2128016314","https://openalex.org/W2134949162","https://openalex.org/W2138033133","https://openalex.org/W2144362290","https://openalex.org/W2144756522","https://openalex.org/W2150352169","https://openalex.org/W2150662736","https://openalex.org/W2159952364","https://openalex.org/W2160050995","https://openalex.org/W2161633633","https://openalex.org/W2167810407","https://openalex.org/W2168133698","https://openalex.org/W2168195691","https://openalex.org/W2168623385","https://openalex.org/W2314905147","https://openalex.org/W2404451866","https://openalex.org/W4300196896","https://openalex.org/W7096257995"],"related_works":["https://openalex.org/W2804337574","https://openalex.org/W3170750324","https://openalex.org/W4417279803","https://openalex.org/W4414801755","https://openalex.org/W3165547008","https://openalex.org/W2259202917","https://openalex.org/W2286945771","https://openalex.org/W2338607927","https://openalex.org/W3045442093","https://openalex.org/W2883510079"],"abstract_inverted_index":{"Recent":[0],"studies":[1],"revealed":[2],"the":[3,73,77,129,142,145,149,156,165,169,175,178,181,189,203,208],"power":[4],"of":[5,76,144],"whole-exome":[6,48],"sequencing":[7],"to":[8,56,127],"identify":[9],"mutations":[10],"in":[11,25,27,64,81,97,120,134,155,168,177,188],"sporadic":[12],"cases":[13],"with":[14,36,94,148,171,202],"non-syndromic":[15],"intellectual":[16,172],"disability.":[17],"We":[18,193],"now":[19],"identified":[20],"de":[21,51],"novo":[22,52],"missense":[23,88],"variants":[24,53,63],"NAA10":[26],"two":[28,102],"unrelated":[29],"individuals,":[30],"a":[31,34,111,161],"boy":[32,170],"and":[33,59,118],"girl,":[35],"severe":[37,183],"global":[38,115],"developmental":[39,116],"delay":[40,117],"but":[41],"without":[42],"any":[43],"major":[44],"dysmorphism":[45],"by":[46,110],"trio":[47],"sequencing.":[49],"Both":[50],"were":[54],"predicted":[55],"be":[57],"deleterious,":[58],"we":[60,132],"excluded":[61],"other":[62],"this":[65],"gene.":[66],"This":[67,105],"X-linked":[68],"gene":[69],"encodes":[70],"N-alpha-acetyltransferase":[71],"10,":[72],"catalytic":[74,151,205],"subunit":[75],"NatA":[78],"complex":[79],"involved":[80],"multiple":[82],"cellular":[83],"processes.":[84],"A":[85],"single":[86],"hypomorphic":[87],"variant":[89,154,176],"p.(Ser37Pro)":[90],"was":[91,180],"previously":[92],"associated":[93],"Ogden":[95,157],"syndrome":[96,158],"eight":[98],"affected":[99],"males":[100],"from":[101],"different":[103],"families.":[104],"rare":[106],"disorder":[107],"is":[108,199],"characterized":[109],"highly":[112],"recognizable":[113],"phenotype,":[114,131],"results":[119],"death":[121],"during":[122],"infancy.":[123],"In":[124],"an":[125],"attempt":[126],"explain":[128],"discrepant":[130],"used":[133],"vitro":[135],"N-terminal":[136,196],"acetylation":[137,190],"assays":[138,191],"which":[139],"suggested":[140],"that":[141,195],"severity":[143],"phenotype":[146],"correlates":[147],"remaining":[150],"activity.":[152],"The":[153],"patients":[159],"exhibited":[160],"lower":[162],"activity":[163,187,206],"than":[164],"one":[166],"seen":[167],"disability,":[173],"while":[174],"girl":[179],"most":[182],"exhibiting":[184],"only":[185],"residual":[186],"used.":[192],"propose":[194],"acetyltransferase":[197],"deficiency":[198],"clinically":[200],"heterogeneous":[201],"overall":[204],"determining":[207],"phenotypic":[209],"severity.":[210]},"counts_by_year":[{"year":2026,"cited_by_count":3},{"year":2025,"cited_by_count":5},{"year":2024,"cited_by_count":9},{"year":2023,"cited_by_count":4},{"year":2022,"cited_by_count":4},{"year":2021,"cited_by_count":8},{"year":2020,"cited_by_count":8},{"year":2019,"cited_by_count":9},{"year":2018,"cited_by_count":14},{"year":2017,"cited_by_count":8},{"year":2016,"cited_by_count":9},{"year":2015,"cited_by_count":7},{"year":2014,"cited_by_count":1}],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2016-06-24T00:00:00"}