{"entity": "publication", "iuid": "6606d7c3572e4f5499812f01ed3ae99d", "timestamp": "2026-09-28T23:06:03.182Z", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/6606d7c3572e4f5499812f01ed3ae99d.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/6606d7c3572e4f5499812f01ed3ae99d"}}, "title": "Loss of function, missense, and intronic variants in NOTCH1 confer different risks for left ventricular outflow tract obstructive heart defects in two European cohorts", "authors": [{"family": "Helle", "given": "Emmi", "initials": "E"}, {"family": "C\u00f3rdova-Palomera", "given": "Aldo", "initials": "A"}, {"family": "Ojala", "given": "Tiina", "initials": "T"}, {"family": "Saha", "given": "Priyanka", "initials": "P"}, {"family": "Potiny", "given": "Praneetha", "initials": "P"}, {"family": "Gustafsson", "given": "Stefan", "initials": "S"}, {"family": "Ingelsson", "given": "Erik", "initials": "E"}, {"family": "Bamshad", "given": "Michael", "initials": "M"}, {"family": "Nickerson", "given": "Deborah", "initials": "D"}, {"family": "Chong", "given": "Jessica X", "initials": "JX"}, {"family": "Ashley", "given": "Euan", "initials": "E"}, {"family": "Priest", "given": "James R", "initials": "JR"}], "type": "posted-content", "published": "2017-11-07", "journal": {"issn-l": null}, "abstract": null, "doi": "10.1101/215301", "pmid": null, "labels": [], "xrefs": [], "notes": [], "created": "2026-09-23T14:38:59.540Z", "modified": "2026-09-23T14:38:59.557Z"}