{"entity": "publication", "iuid": "e0ff192973e442a6be45914098bfbafe", "timestamp": "2026-09-26T23:33:03.126Z", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/e0ff192973e442a6be45914098bfbafe.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/e0ff192973e442a6be45914098bfbafe"}}, "title": "Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability.", "authors": [{"family": "Thuresson", "given": "Ann-Charlotte", "initials": "AC", "orcid": "0000-0002-4018-5551", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/bec23259b4834998952ec6aa9a44a778.json"}}, {"family": "Soussi Zander", "given": "Cecilia", "initials": "C"}, {"family": "Zhao", "given": "Jin J", "initials": "JJ"}, {"family": "Halvardson", "given": "Jonatan", "initials": "J"}, {"family": "Maqbool", "given": "Khurram", "initials": "K", "orcid": "0000-0003-2981-2582", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ae3c7cd13b74462da918d013a96c7e3f.json"}}, {"family": "M\u00e5nsson", "given": "Else", "initials": "E"}, {"family": "Stenninger", "given": "Eric", "initials": "E"}, {"family": "Holmlund", "given": "Ulrika", "initials": "U"}, {"family": "\u00d6hrner", "given": "Ylva", "initials": "Y"}, {"family": "Feuk", "given": "Lars", "initials": "L"}], "type": "letter", "published": "2019-03-00", "journal": {"title": "Clin. Genet.", "issn": "1399-0004", "volume": "95", "issue": "3", "pages": "436-439", "issn-l": "0009-9163"}, "abstract": "[Image: see text]", "doi": "10.1111/cge.13470", "pmid": "30525197", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC6392105"}], "notes": [], "created": "2026-09-23T12:09:26.458Z", "modified": "2026-09-23T12:09:26.527Z"}