{"id":"https://openalex.org/W2773613245","doi":"https://doi.org/10.1038/s41431-017-0035-9","title":"Early speech development in Koolen de Vries syndrome limited by oral praxis and hypotonia","display_name":"Early speech development in Koolen de Vries syndrome limited by oral praxis and hypotonia","publication_year":2017,"publication_date":"2017-11-30","ids":{"openalex":"https://openalex.org/W2773613245","doi":"https://doi.org/10.1038/s41431-017-0035-9","mag":"2773613245","pmid":"https://pubmed.ncbi.nlm.nih.gov/29225339","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/5839037"},"language":"en","primary_location":{"id":"doi:10.1038/s41431-017-0035-9","doi":"https://doi.org/10.1038/s41431-017-0035-9","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s41431-017-0035-9","pdf_url":"https://www.nature.com/articles/s41431-017-0035-9.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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"European Journal of Human Genetics","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://www.nature.com/articles/s41431-017-0035-9.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5066731786","display_name":"Angela Tamsin Morgan","orcid":"https://orcid.org/0000-0003-1147-7405","observed_orcids":["https://orcid.org/0000-0003-1147-7405","https://orcid.org/0000-0002-1117-8782"]},"institutions":[{"id":"https://openalex.org/I1321649718","display_name":"Royal Children's Hospital","ror":"https://ror.org/02rktxt32","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I1321649718"]},{"id":"https://openalex.org/I165779595","display_name":"The University of Melbourne","ror":"https://ror.org/01ej9dk98","country_code":"AU","type":"education","lineage":["https://openalex.org/I165779595"]},{"id":"https://openalex.org/I4210150290","display_name":"Murdoch Children's Research Institute","ror":"https://ror.org/048fyec77","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I4210150290"]}],"countries":["AU"],"is_corresponding":true,"raw_author_name":"Angela T. Morgan","raw_affiliation_strings":["Department of Speech Pathology and Audiology, University of Melbourne, Melbourne, Australia. angela.morgan@mcri.edu.au","Murdoch Childrens Research Institute, Melbourne, Australia. angela.morgan@mcri.edu.au","Royal Children's Hospital, Melbourne, Australia. angela.morgan@mcri.edu.au","Murdoch Childrens Research Institute, Melbourne, Australia"],"raw_orcid":"https://orcid.org/0000-0003-1147-7405","affiliations":[{"raw_affiliation_string":"Department of Speech Pathology and Audiology, University of Melbourne, Melbourne, Australia. angela.morgan@mcri.edu.au","institution_ids":["https://openalex.org/I165779595"]},{"raw_affiliation_string":"Murdoch Childrens Research Institute, Melbourne, Australia. angela.morgan@mcri.edu.au","institution_ids":["https://openalex.org/I4210150290"]},{"raw_affiliation_string":"Royal Children's Hospital, Melbourne, Australia. angela.morgan@mcri.edu.au","institution_ids":["https://openalex.org/I1321649718"]},{"raw_affiliation_string":"Murdoch Childrens Research Institute, Melbourne, Australia","institution_ids":["https://openalex.org/I4210150290"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013631730","display_name":"Leenke van Haaften","orcid":"https://orcid.org/0000-0001-9515-0455","observed_orcids":["https://orcid.org/0000-0001-9515-0455"]},"institutions":[{"id":"https://openalex.org/I145872427","display_name":"Radboud University Nijmegen","ror":"https://ror.org/016xsfp80","country_code":"NL","type":"education","lineage":["https://openalex.org/I145872427"]},{"id":"https://openalex.org/I2802934949","display_name":"Radboud University Medical Center","ror":"https://ror.org/05wg1m734","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2802934949"]},{"id":"https://openalex.org/I4405261326","display_name":"Donders Centre for Neuroscience","ror":"https://ror.org/0546zz821","country_code":"NL","type":"facility","lineage":["https://openalex.org/I145872427","https://openalex.org/I4405261313","https://openalex.org/I4405261326"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Leenke van Haaften","raw_affiliation_strings":["Donders Centre for Neuroscience, Department of Rehabilitation, Radboud University Medical Centre, Nijmegen, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Donders Centre for Neuroscience, Department of Rehabilitation, Radboud University Medical Centre, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I145872427","https://openalex.org/I2802934949","https://openalex.org/I4405261326"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5081690934","display_name":"Karen van Hulst","orcid":"https://orcid.org/0000-0001-9456-3450","observed_orcids":["https://orcid.org/0000-0001-9456-3450"]},"institutions":[{"id":"https://openalex.org/I145872427","display_name":"Radboud University Nijmegen","ror":"https://ror.org/016xsfp80","country_code":"NL","type":"education","lineage":["https://openalex.org/I145872427"]},{"id":"https://openalex.org/I2802934949","display_name":"Radboud University Medical Center","ror":"https://ror.org/05wg1m734","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2802934949"]},{"id":"https://openalex.org/I4405261326","display_name":"Donders Centre for Neuroscience","ror":"https://ror.org/0546zz821","country_code":"NL","type":"facility","lineage":["https://openalex.org/I145872427","https://openalex.org/I4405261313","https://openalex.org/I4405261326"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Karen van Hulst","raw_affiliation_strings":["Donders Centre for Neuroscience, Department of Rehabilitation, Radboud University Medical Centre, Nijmegen, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Donders Centre for Neuroscience, Department of Rehabilitation, Radboud University Medical Centre, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I145872427","https://openalex.org/I2802934949","https://openalex.org/I4405261326"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5035853800","display_name":"Carol Edley","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210090149","display_name":"Cook Children's Medical Center","ror":"https://ror.org/009z5t729","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210090149","https://openalex.org/I4210102753"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Carol Edley","raw_affiliation_strings":["Cook Children's Medical Centre, Fort Worth, TX, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cook Children's Medical Centre, Fort Worth, TX, USA","institution_ids":["https://openalex.org/I4210090149"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010264820","display_name":"Cristina Mei","orcid":"https://orcid.org/0000-0002-6765-8064","observed_orcids":["https://orcid.org/0000-0002-6765-8064"]},"institutions":[{"id":"https://openalex.org/I4210150290","display_name":"Murdoch Children's Research Institute","ror":"https://ror.org/048fyec77","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I4210150290"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Cristina Mei","raw_affiliation_strings":["Murdoch Childrens Research Institute, Melbourne, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Murdoch Childrens Research Institute, Melbourne, Australia","institution_ids":["https://openalex.org/I4210150290"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5049989599","display_name":"Tiong Yang Tan","orcid":"https://orcid.org/0000-0001-8455-7778","observed_orcids":["https://orcid.org/0000-0001-8455-7778"]},"institutions":[{"id":"https://openalex.org/I165779595","display_name":"The University of Melbourne","ror":"https://ror.org/01ej9dk98","country_code":"AU","type":"education","lineage":["https://openalex.org/I165779595"]},{"id":"https://openalex.org/I4210109019","display_name":"Victorian Clinical Genetics Services","ror":"https://ror.org/01mmz5j21","country_code":"AU","type":"facility","lineage":["https://openalex.org/I4210109019","https://openalex.org/I4210150290"]},{"id":"https://openalex.org/I4210150290","display_name":"Murdoch Children's Research Institute","ror":"https://ror.org/048fyec77","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I4210150290"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Tiong Yang Tan","raw_affiliation_strings":["Department of Paediatrics, University of Melbourne, Melbourne, Australia","Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Melbourne, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatrics, University of Melbourne, Melbourne, Australia","institution_ids":["https://openalex.org/I165779595"]},{"raw_affiliation_string":"Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Melbourne, Australia","institution_ids":["https://openalex.org/I4210109019","https://openalex.org/I4210150290"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5079377834","display_name":"David J. Amor","orcid":"https://orcid.org/0000-0001-7191-8511","observed_orcids":["https://orcid.org/0000-0001-7191-8511"]},"institutions":[{"id":"https://openalex.org/I165779595","display_name":"The University of Melbourne","ror":"https://ror.org/01ej9dk98","country_code":"AU","type":"education","lineage":["https://openalex.org/I165779595"]},{"id":"https://openalex.org/I4210150290","display_name":"Murdoch Children's Research Institute","ror":"https://ror.org/048fyec77","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I4210150290"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"David Amor","raw_affiliation_strings":["Department of Paediatrics, University of Melbourne, Melbourne, Australia","Murdoch Childrens Research Institute, Melbourne, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatrics, University of Melbourne, Melbourne, Australia","institution_ids":["https://openalex.org/I165779595"]},{"raw_affiliation_string":"Murdoch Childrens Research Institute, Melbourne, Australia","institution_ids":["https://openalex.org/I4210150290"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082524516","display_name":"Simon E. Fisher","orcid":"https://orcid.org/0000-0002-3132-1996","observed_orcids":["https://orcid.org/0000-0002-3132-1996"]},"institutions":[{"id":"https://openalex.org/I145872427","display_name":"Radboud University Nijmegen","ror":"https://ror.org/016xsfp80","country_code":"NL","type":"education","lineage":["https://openalex.org/I145872427"]},{"id":"https://openalex.org/I4210089003","display_name":"Max Planck Institute for Psycholinguistics","ror":"https://ror.org/00671me87","country_code":"NL","type":"facility","lineage":["https://openalex.org/I149899117","https://openalex.org/I4210089003"]},{"id":"https://openalex.org/I4405261313","display_name":"Donders Institute for Brain, Cognition and Behaviour","ror":"https://ror.org/053sba816","country_code":"NL","type":"facility","lineage":["https://openalex.org/I145872427","https://openalex.org/I4405261313"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Simon E. Fisher","raw_affiliation_strings":["Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands","Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I145872427","https://openalex.org/I4405261313"]},{"raw_affiliation_string":"Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I4210089003"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5024574359","display_name":"David A. Koolen","orcid":"https://orcid.org/0000-0002-2152-4626","observed_orcids":["https://orcid.org/0000-0002-2152-4626"]},"institutions":[{"id":"https://openalex.org/I2802934949","display_name":"Radboud University Medical Center","ror":"https://ror.org/05wg1m734","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2802934949"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"David A. Koolen","raw_affiliation_strings":["Department of Human Genetics, Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I2802934949"]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":10,"corresponding_author_ids":["https://openalex.org/A5066731786"],"corresponding_institution_ids":["https://openalex.org/I1321649718","https://openalex.org/I165779595","https://openalex.org/I4210150290"],"apc_list":{"value":2790,"currency":"USD","value_usd":2790},"apc_paid":null,"fwci":6.6206,"has_fulltext":true,"cited_by_count":37,"citation_normalized_percentile":{"value":0.96244131,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":93,"max":98},"biblio":{"volume":"26","issue":"1","first_page":"75","last_page":"84"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10730","display_name":"Language Development and Disorders","score":0.9550999999046326,"subfield":{"id":"https://openalex.org/subfields/3204","display_name":"Developmental and Educational Psychology"},"field":{"id":"https://openalex.org/fields/32","display_name":"Psychology"},"domain":{"id":"https://openalex.org/domains/2","display_name":"Social Sciences"}},"topics":[{"id":"https://openalex.org/T10730","display_name":"Language Development and Disorders","score":0.9550999999046326,"subfield":{"id":"https://openalex.org/subfields/3204","display_name":"Developmental and Educational Psychology"},"field":{"id":"https://openalex.org/fields/32","display_name":"Psychology"},"domain":{"id":"https://openalex.org/domains/2","display_name":"Social Sciences"}},{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.014100000262260437,"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":0.00839999970048666,"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/koolen-de-vries-syndrome","display_name":"Koolen-de Vries syndrome","score":0.996999979019165},{"id":"https://openalex.org/keywords/kansl1","display_name":"KANSL1","score":0.9629999995231628},{"id":"https://openalex.org/keywords/speech-development","display_name":"speech development","score":0.6940000057220459},{"id":"https://openalex.org/keywords/apraxia-of-speech","display_name":"apraxia of speech","score":0.7760000228881836},{"id":"https://openalex.org/keywords/dysarthria","display_name":"dysarthria","score":0.9670000076293945},{"id":"https://openalex.org/keywords/hypotonia","display_name":"hypotonia","score":0.8960000276565552},{"id":"https://openalex.org/keywords/language-delay","display_name":"language delay","score":0.7070000171661377},{"id":"https://openalex.org/keywords/literacy-deficits","display_name":"literacy deficits","score":0.734000027179718},{"id":"https://openalex.org/keywords/pragmatic-language-disorders","display_name":"pragmatic language impairment","score":0.6959999799728394},{"id":"https://openalex.org/keywords/stuttering","display_name":"stuttering","score":0.8100000023841858},{"id":"https://openalex.org/keywords/sign-language","display_name":"sign language","score":0.7250000238418579},{"id":"https://openalex.org/keywords/speech-therapy","display_name":"speech therapy","score":0.8420000076293945}],"concepts":[{"id":"https://openalex.org/C2777639682","wikidata":"https://www.wikidata.org/wiki/Q225957","display_name":"Dysarthria","level":2,"score":0.6724646687507629},{"id":"https://openalex.org/C2781371259","wikidata":"https://www.wikidata.org/wiki/Q186676","display_name":"Stuttering","level":2,"score":0.669586181640625},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.6515659689903259},{"id":"https://openalex.org/C2776818353","wikidata":"https://www.wikidata.org/wiki/Q498916","display_name":"Apraxia","level":3,"score":0.6228366494178772},{"id":"https://openalex.org/C2779546488","wikidata":"https://www.wikidata.org/wiki/Q1753547","display_name":"Hypotonia","level":2,"score":0.5851365327835083},{"id":"https://openalex.org/C138496976","wikidata":"https://www.wikidata.org/wiki/Q175002","display_name":"Developmental psychology","level":1,"score":0.4556763768196106},{"id":"https://openalex.org/C548259974","wikidata":"https://www.wikidata.org/wiki/Q569965","display_name":"Audiology","level":1,"score":0.4298570454120636},{"id":"https://openalex.org/C2777102477","wikidata":"https://www.wikidata.org/wiki/Q10469820","display_name":"Language disorder","level":3,"score":0.4206976890563965},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.30640482902526855},{"id":"https://openalex.org/C180747234","wikidata":"https://www.wikidata.org/wiki/Q23373","display_name":"Cognitive psychology","level":1,"score":0.20245814323425293},{"id":"https://openalex.org/C2779422653","wikidata":"https://www.wikidata.org/wiki/Q2836","display_name":"Aphasia","level":2,"score":0.1863538920879364},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.1478903889656067},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.1342185139656067},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.09643548727035522},{"id":"https://openalex.org/C169900460","wikidata":"https://www.wikidata.org/wiki/Q2200417","display_name":"Cognition","level":2,"score":0.08495458960533142}],"mesh":[{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D000293","descriptor_name":"Adolescent","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":"D001072","descriptor_name":"Apraxias","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D001072","descriptor_name":"Apraxias","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002872","descriptor_name":"Chromosome Deletion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002886","descriptor_name":"Chromosomes, Human, Pair 17","qualifier_ui":"Q000235","qualifier_name":"genetics","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":"D007223","descriptor_name":"Infant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007804","descriptor_name":"Language Development","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D009123","descriptor_name":"Muscle Hypotonia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009123","descriptor_name":"Muscle Hypotonia","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D009687","descriptor_name":"Nuclear Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":8,"locations":[{"id":"doi:10.1038/s41431-017-0035-9","doi":"https://doi.org/10.1038/s41431-017-0035-9","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s41431-017-0035-9","pdf_url":"https://www.nature.com/articles/s41431-017-0035-9.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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"European Journal of Human Genetics","raw_type":"journal-article"},{"id":"pmh:oai:europepmc.org:5284685","doi":null,"is_oa":true,"landing_page_url":"http://europepmc.org/pmc/articles/PMC5839037","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"","raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:5839037","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/5839037","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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Eur J Hum Genet","raw_type":"Text"},{"id":"pmid:29225339","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/29225339","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":"Journal Article"},{"id":"pmh:oai:escidoc.org:escidoc:2517998","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/11858/00-001M-0000-002E-96B1-0","pdf_url":null,"source":{"id":"https://openalex.org/S7407052962","display_name":"Max Planck Digital Library","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210088280","host_organization_name":"Max Planck Digital Library","host_organization_lineage":["https://openalex.org/I4210088280"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:pure.mpg.de:item_2517998","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/11858/00-001M-0000-002E-96B1-0","pdf_url":null,"source":{"id":"https://openalex.org/S4306400654","display_name":"MPG.PuRe (Max Planck Society)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I149899117","host_organization_name":"Max Planck Society","host_organization_lineage":["https://openalex.org/I149899117"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","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:repository.ubn.ru.nl:2066/183842","doi":null,"is_oa":false,"landing_page_url":"https://hdl.handle.net/2066/183842","pdf_url":null,"source":{"id":"https://openalex.org/S4306401067","display_name":"Radboud Repository (Radboud University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I145872427","host_organization_name":"Radboud University Nijmegen","host_organization_lineage":["https://openalex.org/I145872427"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Article / Letter to editor"},{"id":"pmh:ru:oai:repository.ubn.ru.nl:2066/183842","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/2066/183842","pdf_url":null,"source":{"id":"https://openalex.org/S4306401067","display_name":"Radboud Repository (Radboud University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I145872427","host_organization_name":"Radboud University Nijmegen","host_organization_lineage":["https://openalex.org/I145872427"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"European Journal of Human Genetics, 26, 75 - 84","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":{"id":"doi:10.1038/s41431-017-0035-9","doi":"https://doi.org/10.1038/s41431-017-0035-9","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s41431-017-0035-9","pdf_url":"https://www.nature.com/articles/s41431-017-0035-9.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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"European Journal of Human Genetics","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.9476000070571899,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[{"id":"https://openalex.org/G1577766369","display_name":"Centre for Research Excellence in Speech and Language Neurobiology (CRE-SLANG)","funder_award_id":"1116976","funder_id":"https://openalex.org/F4320334705","funder_display_name":"National Health and Medical Research Council"},{"id":"https://openalex.org/G2466482649","display_name":"Neurobiology of childhood speech and language disorders: advancing diagnosis, prognosis and management","funder_award_id":"1105008","funder_id":"https://openalex.org/F4320334705","funder_display_name":"National Health and Medical Research Council"},{"id":"https://openalex.org/G821825806","display_name":null,"funder_award_id":"Practitioner Fellowship #1105008","funder_id":"https://openalex.org/F4320334705","funder_display_name":"National Health and Medical Research Council"},{"id":"https://openalex.org/G989572646","display_name":"Neurobiology of childhood speech disorders: improving detection, diagnosis and clinical care","funder_award_id":"1127144","funder_id":"https://openalex.org/F4320334705","funder_display_name":"National Health and Medical Research Council"}],"funders":[{"id":"https://openalex.org/F4320322858","display_name":"State Government of Victoria","ror":"https://ror.org/02xvc5r05"},{"id":"https://openalex.org/F4320334626","display_name":"Medical Research Council","ror":"https://ror.org/03x94j517"},{"id":"https://openalex.org/F4320334705","display_name":"National Health and Medical Research Council","ror":"https://ror.org/011kf5r70"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2773613245.pdf","grobid_xml":"https://content.openalex.org/works/W2773613245.grobid-xml"},"referenced_works_count":42,"referenced_works":["https://openalex.org/W153682708","https://openalex.org/W185996218","https://openalex.org/W1571868942","https://openalex.org/W1594988171","https://openalex.org/W1672818023","https://openalex.org/W1914170761","https://openalex.org/W1980137099","https://openalex.org/W2012007744","https://openalex.org/W2015510738","https://openalex.org/W2030667868","https://openalex.org/W2034243550","https://openalex.org/W2037948274","https://openalex.org/W2045138478","https://openalex.org/W2045543760","https://openalex.org/W2058601962","https://openalex.org/W2064472111","https://openalex.org/W2068913902","https://openalex.org/W2073254356","https://openalex.org/W2086144640","https://openalex.org/W2098502603","https://openalex.org/W2124295489","https://openalex.org/W2141743586","https://openalex.org/W2144589949","https://openalex.org/W2147459324","https://openalex.org/W2161409513","https://openalex.org/W2162805839","https://openalex.org/W2167009007","https://openalex.org/W2167087209","https://openalex.org/W2177523845","https://openalex.org/W2208406885","https://openalex.org/W2277883525","https://openalex.org/W2336526731","https://openalex.org/W2508440210","https://openalex.org/W2528035916","https://openalex.org/W2570994193","https://openalex.org/W2588120838","https://openalex.org/W2916586225","https://openalex.org/W3102993074","https://openalex.org/W3172342943","https://openalex.org/W4230579509","https://openalex.org/W4285719527","https://openalex.org/W6759389942"],"related_works":["https://openalex.org/W4311933169","https://openalex.org/W2588120838","https://openalex.org/W3082675619","https://openalex.org/W1672818023","https://openalex.org/W4405171540","https://openalex.org/W3205783728","https://openalex.org/W2767120098","https://openalex.org/W4295956527","https://openalex.org/W4391362730","https://openalex.org/W2255660422"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":3},{"year":2024,"cited_by_count":5},{"year":2023,"cited_by_count":5},{"year":2022,"cited_by_count":5},{"year":2021,"cited_by_count":5},{"year":2020,"cited_by_count":6},{"year":2019,"cited_by_count":4},{"year":2018,"cited_by_count":2}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2017-12-22T00:00:00"}
