{"id":"https://openalex.org/W1969937019","doi":"https://doi.org/10.1038/ejhg.2011.135","title":"Fine-grained facial phenotype\u2013genotype analysis in Wolf\u2013Hirschhorn syndrome","display_name":"Fine-grained facial phenotype\u2013genotype analysis in Wolf\u2013Hirschhorn syndrome","publication_year":2011,"publication_date":"2011-07-27","ids":{"openalex":"https://openalex.org/W1969937019","doi":"https://doi.org/10.1038/ejhg.2011.135","mag":"1969937019","pmid":"https://pubmed.ncbi.nlm.nih.gov/21792232","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/3234504"},"language":"en","primary_location":{"id":"doi:10.1038/ejhg.2011.135","doi":"https://doi.org/10.1038/ejhg.2011.135","is_oa":true,"landing_page_url":"https://doi.org/10.1038/ejhg.2011.135","pdf_url":"https://www.nature.com/articles/ejhg2011135.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","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://www.nature.com/articles/ejhg2011135.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5065396629","display_name":"Peter Hammond","orcid":"https://orcid.org/0000-0003-3208-4459","observed_orcids":["https://orcid.org/0000-0003-3208-4459","https://orcid.org/0000-0003-1125-3612","https://orcid.org/0000-0001-5762-1084"]},"institutions":[{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":true,"raw_author_name":"Peter Hammond","raw_affiliation_strings":["Molecular Medicine Unit, UCL Institute of Child Health, London, UK. p.hammond@ucl.ac.uk","Molecular Medicine Unit, UCL Institute of Child Health, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Molecular Medicine Unit, UCL Institute of Child Health, London, UK. p.hammond@ucl.ac.uk","institution_ids":["https://openalex.org/I45129253"]},{"raw_affiliation_string":"Molecular Medicine Unit, UCL Institute of Child Health, London, UK","institution_ids":["https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5054200018","display_name":"Femke Hannes","orcid":null,"observed_orcids":[]},"institutions":[{"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":false,"raw_author_name":"Femke Hannes","raw_affiliation_strings":["Centre for Human-Genetics, University of Leuven, Leuven, Belgium"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre for Human-Genetics, University of Leuven, Leuven, Belgium","institution_ids":["https://openalex.org/I99464096"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5068855641","display_name":"Michael Suttie","orcid":"https://orcid.org/0000-0002-5538-8431","observed_orcids":["https://orcid.org/0000-0002-5538-8431"]},"institutions":[{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Michael Suttie","raw_affiliation_strings":["Molecular Medicine Unit, UCL Institute of Child Health, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Molecular Medicine Unit, UCL Institute of Child Health, London, UK","institution_ids":["https://openalex.org/I45129253"]}]},{"author_position":"middle","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/I99464096","display_name":"KU Leuven","ror":"https://ror.org/05f950310","country_code":"BE","type":"education","lineage":["https://openalex.org/I99464096"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"Koen Devriendt","raw_affiliation_strings":["Centre for Human-Genetics, University of Leuven, Leuven, Belgium"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre for Human-Genetics, University of Leuven, Leuven, Belgium","institution_ids":["https://openalex.org/I99464096"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5074427420","display_name":"Joris Robert Vermeesch","orcid":"https://orcid.org/0000-0002-3071-1191","observed_orcids":["https://orcid.org/0000-0002-3071-1191","https://orcid.org/0000-0002-4777-5802"]},"institutions":[{"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":false,"raw_author_name":"Joris Robert Vermeesch","raw_affiliation_strings":["Centre for Human-Genetics, University of Leuven, Leuven, Belgium"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre for Human-Genetics, University of Leuven, Leuven, Belgium","institution_ids":["https://openalex.org/I99464096"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100974037","display_name":"Francesca Faravelli","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I3018768319","display_name":"Ente Ospedaliero Ospedali Galliera","ror":"https://ror.org/05bs6ak67","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I3018768319","https://openalex.org/I4405264730"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Francesca Faravelli","raw_affiliation_strings":["SC Genetica Umana, EO Ospedali Galliera, Genova, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"SC Genetica Umana, EO Ospedali Galliera, Genova, Italy","institution_ids":["https://openalex.org/I3018768319"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5037962041","display_name":"Francesca Forzano","orcid":"https://orcid.org/0000-0001-5632-0052","observed_orcids":["https://orcid.org/0000-0001-5632-0052"]},"institutions":[{"id":"https://openalex.org/I3018768319","display_name":"Ente Ospedaliero Ospedali Galliera","ror":"https://ror.org/05bs6ak67","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I3018768319","https://openalex.org/I4405264730"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Francesca Forzano","raw_affiliation_strings":["SC Genetica Umana, EO Ospedali Galliera, Genova, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"SC Genetica Umana, EO Ospedali Galliera, Genova, Italy","institution_ids":["https://openalex.org/I3018768319"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5007723107","display_name":"Susan Parekh","orcid":"https://orcid.org/0000-0001-8866-0262","observed_orcids":["https://orcid.org/0000-0001-8866-0262"]},"institutions":[{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Susan Parekh","raw_affiliation_strings":["UCL Eastman Dental Institute, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"UCL Eastman Dental Institute, London, UK","institution_ids":["https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Steve Williams","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210164839","display_name":"Sheffield Children's Hospital","ror":"https://ror.org/05mshxb09","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I4210121472","https://openalex.org/I4210164839"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Steve Williams","raw_affiliation_strings":["Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, UK","institution_ids":["https://openalex.org/I4210164839"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020896155","display_name":"Dominic J. McMullan","orcid":"https://orcid.org/0000-0002-3980-7595","observed_orcids":["https://orcid.org/0000-0002-3980-7595"]},"institutions":[{"id":"https://openalex.org/I4210099987","display_name":"Birmingham Women's Hospital","ror":"https://ror.org/00xe5zs60","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I4210099987","https://openalex.org/I4210155225"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Dominic McMullan","raw_affiliation_strings":["Department of Cytogenetics, Birmingham Women's Hospital, Birmingham, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cytogenetics, Birmingham Women's Hospital, Birmingham, UK","institution_ids":["https://openalex.org/I4210099987"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003907612","display_name":"Sarah T. South","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I223532165","display_name":"University of Utah","ror":"https://ror.org/03r0ha626","country_code":"US","type":"education","lineage":["https://openalex.org/I223532165"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Sarah T South","raw_affiliation_strings":["Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, UT, USA","Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, UT, USA","institution_ids":["https://openalex.org/I223532165"]},{"raw_affiliation_string":"Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, USA","institution_ids":["https://openalex.org/I223532165"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5012216196","display_name":"John C. Carey","orcid":"https://orcid.org/0000-0002-6007-8518","observed_orcids":["https://orcid.org/0000-0002-6007-8518"]},"institutions":[{"id":"https://openalex.org/I223532165","display_name":"University of Utah","ror":"https://ror.org/03r0ha626","country_code":"US","type":"education","lineage":["https://openalex.org/I223532165"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"John C Carey","raw_affiliation_strings":["Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, UT, USA","Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, UT, USA","institution_ids":["https://openalex.org/I223532165"]},{"raw_affiliation_string":"Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, USA","institution_ids":["https://openalex.org/I223532165"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5085558998","display_name":"Oliver Quarrell","orcid":"https://orcid.org/0000-0002-3818-9051","observed_orcids":["https://orcid.org/0000-0002-3818-9051"]},"institutions":[{"id":"https://openalex.org/I4210164839","display_name":"Sheffield Children's Hospital","ror":"https://ror.org/05mshxb09","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I4210121472","https://openalex.org/I4210164839"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Oliver Quarrell","raw_affiliation_strings":["Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, UK","institution_ids":["https://openalex.org/I4210164839"]}]}],"institutions":[],"countries_distinct_count":4,"institutions_distinct_count":6,"corresponding_author_ids":["https://openalex.org/A5065396629"],"corresponding_institution_ids":["https://openalex.org/I45129253"],"apc_list":{"value":2790,"currency":"USD","value_usd":2790},"apc_paid":null,"fwci":4.7111,"has_fulltext":true,"cited_by_count":70,"citation_normalized_percentile":{"value":0.95614965,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":99},"biblio":{"volume":"20","issue":"1","first_page":"33","last_page":"40"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.8320000171661377,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.8320000171661377,"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/T11448","display_name":"Face recognition and analysis","score":0.03020000085234642,"subfield":{"id":"https://openalex.org/subfields/1707","display_name":"Computer Vision and Pattern Recognition"},"field":{"id":"https://openalex.org/fields/17","display_name":"Computer Science"},"domain":{"id":"https://openalex.org/domains/3","display_name":"Physical Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.02800000086426735,"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/wolf-hirschhorn-syndrome","display_name":"Wolf-Hirschhorn syndrome","score":0.9990000128746033},{"id":"https://openalex.org/keywords/facial-phenotype","display_name":"facial phenotype","score":0.7409999966621399},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.9359999895095825},{"id":"https://openalex.org/keywords/4p16-3-deletion","display_name":"4p16.3 deletion","score":0.777999997138977},{"id":"https://openalex.org/keywords/hypertelorism","display_name":"hypertelorism","score":0.843999981880188},{"id":"https://openalex.org/keywords/facial-morphology","display_name":"facial morphology","score":0.48899999260902405},{"id":"https://openalex.org/keywords/unbalanced-translocation","display_name":"unbalanced translocation","score":0.6890000104904175},{"id":"https://openalex.org/keywords/atypical-genotypes","display_name":"atypical genotypes","score":0.44200000166893005}],"concepts":[{"id":"https://openalex.org/C2779286207","wikidata":"https://www.wikidata.org/wiki/Q1641128","display_name":"Hypertelorism","level":2,"score":0.8761706352233887},{"id":"https://openalex.org/C206936463","wikidata":"https://www.wikidata.org/wiki/Q634179","display_name":"Breakpoint","level":4,"score":0.7180776596069336},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.6971347332000732},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6382090449333191},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6318270564079285},{"id":"https://openalex.org/C2778544681","wikidata":"https://www.wikidata.org/wiki/Q1075671","display_name":"Glabella","level":3,"score":0.6069674491882324},{"id":"https://openalex.org/C2781205058","wikidata":"https://www.wikidata.org/wiki/Q152092","display_name":"Philtrum","level":3,"score":0.5796683430671692},{"id":"https://openalex.org/C134068817","wikidata":"https://www.wikidata.org/wiki/Q836605","display_name":"Chromosome 4","level":4,"score":0.46526479721069336},{"id":"https://openalex.org/C200844832","wikidata":"https://www.wikidata.org/wiki/Q5533517","display_name":"Genotype-phenotype distinction","level":4,"score":0.4130544364452362},{"id":"https://openalex.org/C138626823","wikidata":"https://www.wikidata.org/wiki/Q916504","display_name":"Chromosomal translocation","level":3,"score":0.36518803238868713},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.34606093168258667},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.27032822370529175},{"id":"https://openalex.org/C105702510","wikidata":"https://www.wikidata.org/wiki/Q514","display_name":"Anatomy","level":1,"score":0.16560086607933044},{"id":"https://openalex.org/C2780208632","wikidata":"https://www.wikidata.org/wiki/Q15173","display_name":"Upper lip","level":2,"score":0.0},{"id":"https://openalex.org/C2780446394","wikidata":"https://www.wikidata.org/wiki/Q41055","display_name":"Forehead","level":2,"score":0.0}],"mesh":[{"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":"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":"D002894","descriptor_name":"Chromosomes, Human, Pair 4","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005146","descriptor_name":"Facial Asymmetry","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D005146","descriptor_name":"Facial Asymmetry","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"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":"D006972","descriptor_name":"Hypertelorism","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D007091","descriptor_name":"Image Processing, Computer-Assisted","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":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010363","descriptor_name":"Pattern Recognition, Automated","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D014178","descriptor_name":"Translocation, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016014","descriptor_name":"Linear Models","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016022","descriptor_name":"Case-Control Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D025341","descriptor_name":"Principal Component Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051500","descriptor_name":"Receptor, Fibroblast Growth Factor, Type 5","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D054877","descriptor_name":"Wolf-Hirschhorn Syndrome","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D054877","descriptor_name":"Wolf-Hirschhorn Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D055815","descriptor_name":"Young Adult","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}],"locations_count":9,"locations":[{"id":"doi:10.1038/ejhg.2011.135","doi":"https://doi.org/10.1038/ejhg.2011.135","is_oa":true,"landing_page_url":"https://doi.org/10.1038/ejhg.2011.135","pdf_url":"https://www.nature.com/articles/ejhg2011135.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:2529034","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3234504","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":null,"raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:3234504","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3234504","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:21792232","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/21792232","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":"Comparative Study"},{"id":"pmh:oai:HAL:hal-00663395v1","doi":null,"is_oa":true,"landing_page_url":"https://hal.science/hal-00663395","pdf_url":null,"source":{"id":"https://openalex.org/S4306402512","display_name":"HAL","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4405252976","host_organization_name":"Centre pour la Communication Scientifique Directe","host_organization_lineage":["https://openalex.org/I4405252976"],"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, 2011, ⟨10.1038/ejhg.2011.135⟩","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:eprints.ucl.ac.uk.OAI2:1320858","doi":null,"is_oa":false,"landing_page_url":"http://discovery.ucl.ac.uk/1320858/","pdf_url":null,"source":{"id":"https://openalex.org/S4306400024","display_name":"UCL Discovery (University College London)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I45129253","host_organization_name":"University College London","host_organization_lineage":["https://openalex.org/I45129253"],"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 , 20 (1) pp. 33-40. (2012)","raw_type":"Article"},{"id":"pmh:oai:eprints.ucl.ac.uk.OAI2:1339935","doi":null,"is_oa":false,"landing_page_url":"http://discovery.ucl.ac.uk/1339935/","pdf_url":null,"source":{"id":"https://openalex.org/S4306400024","display_name":"UCL Discovery (University College London)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I45129253","host_organization_name":"University College London","host_organization_lineage":["https://openalex.org/I45129253"],"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 (2011)","raw_type":"Article"},{"id":"pmh:oai:lirias2repo.kuleuven.be:123456789/313392","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/21792232","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":"European Journal of Human Genetics, vol. 20 (1), (33-40)","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:tara.tcd.ie:2262/61850","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/2262/61850","pdf_url":null,"source":{"id":"https://openalex.org/S4306400387","display_name":"Trinity's Access to Research Output (TARA) (Trinity College Dublin)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I205274468","host_organization_name":"Trinity College Dublin","host_organization_lineage":["https://openalex.org/I205274468"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":null}],"best_oa_location":{"id":"doi:10.1038/ejhg.2011.135","doi":"https://doi.org/10.1038/ejhg.2011.135","is_oa":true,"landing_page_url":"https://doi.org/10.1038/ejhg.2011.135","pdf_url":"https://www.nature.com/articles/ejhg2011135.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":[{"id":"https://metadata.un.org/sdg/3","score":0.46810001134872437,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320316414","display_name":"Newlife the Charity for Disabled Children","ror":"https://ror.org/00yh11w37"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W1969937019.pdf","grobid_xml":"https://content.openalex.org/works/W1969937019.grobid-xml"},"referenced_works_count":41,"referenced_works":["https://openalex.org/W1582943038","https://openalex.org/W1825968114","https://openalex.org/W1969043166","https://openalex.org/W1977389552","https://openalex.org/W1980247331","https://openalex.org/W1987024037","https://openalex.org/W1990406329","https://openalex.org/W2014003639","https://openalex.org/W2026659004","https://openalex.org/W2027421096","https://openalex.org/W2028711199","https://openalex.org/W2032247740","https://openalex.org/W2051724873","https://openalex.org/W2056141342","https://openalex.org/W2058311420","https://openalex.org/W2064382418","https://openalex.org/W2080884159","https://openalex.org/W2082117900","https://openalex.org/W2082493066","https://openalex.org/W2090484383","https://openalex.org/W2096020629","https://openalex.org/W2097277854","https://openalex.org/W2098719447","https://openalex.org/W2100641579","https://openalex.org/W2104838801","https://openalex.org/W2112249265","https://openalex.org/W2112841851","https://openalex.org/W2121279837","https://openalex.org/W2128580422","https://openalex.org/W2129550075","https://openalex.org/W2129620440","https://openalex.org/W2137303374","https://openalex.org/W2138181458","https://openalex.org/W2138787629","https://openalex.org/W2139773267","https://openalex.org/W2148169908","https://openalex.org/W2149209915","https://openalex.org/W2150115611","https://openalex.org/W2151621937","https://openalex.org/W2162144054","https://openalex.org/W4390428221"],"related_works":["https://openalex.org/W2032247740","https://openalex.org/W2129620440","https://openalex.org/W2898685101","https://openalex.org/W1990406329","https://openalex.org/W2086779835","https://openalex.org/W2097277854","https://openalex.org/W2739950823","https://openalex.org/W1485217893","https://openalex.org/W2523696240","https://openalex.org/W2051724873"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":2},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":3},{"year":2021,"cited_by_count":5},{"year":2020,"cited_by_count":6},{"year":2019,"cited_by_count":3},{"year":2018,"cited_by_count":6},{"year":2017,"cited_by_count":5},{"year":2016,"cited_by_count":2},{"year":2015,"cited_by_count":5},{"year":2014,"cited_by_count":8},{"year":2013,"cited_by_count":12},{"year":2012,"cited_by_count":10}],"updated_date":"2026-11-09T13:22:03.289127","created_date":"2016-06-24T00:00:00"}