{"entity": "researcher", "timestamp": "2026-09-23T15:31:13.017Z", "family": "Grigelioniene", "given": "Giedre", "initials": "G", "orcid": "0000-0001-9601-3137", "affiliations": ["Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, and Department of Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden."], "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/researcher/98ff8041f85c45129bc17513e239c672.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/researcher/98ff8041f85c45129bc17513e239c672"}}, "publications": [{"entity": "publication", "iuid": "e86e7a909eed42569bee02ea5ed91d6c", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/e86e7a909eed42569bee02ea5ed91d6c.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/e86e7a909eed42569bee02ea5ed91d6c"}}, "title": "Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.", "authors": [{"family": "Delgado-Vega", "given": "Angelica Maria", "initials": "AM", "orcid": "0000-0002-9865-0591", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f4b667f7b2e14e659932ec4a93a6bc8d.json"}}, {"family": "Cederroth", "given": "Helene", "initials": "H", "orcid": "0000-0002-5522-3418", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/6632cae65bf74c75bdfe334545824472.json"}}, {"family": "Taylan", "given": "Fulya", "initials": "F", "orcid": "0000-0002-2907-0235", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/fc9bc4b87d0f43b9a0528e936921e5ae.json"}}, {"family": "Ekholm", "given": "Katja", "initials": "K", "orcid": "0009-0005-8231-8876", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/55d01743439d457d9b581adf5d431c74.json"}}, {"family": "Ek", "given": 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"Pettersson", "given": "Maria", "initials": "M"}, {"family": "Pongpanich", "given": "Monnat", "initials": "M"}, {"family": "Posada de la Paz", "given": "Manuel", "initials": "M", "orcid": "0000-0002-8372-4180", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/85351b5ff15341eeb2897176d40c2855.json"}}, {"family": "Ramani", "given": "Arun", "initials": "A"}, {"family": "Romero", "given": "Juan Andres", "initials": "JA"}, {"family": "Romero", "given": "Vanessa I", "initials": "VI"}, {"family": "Rosenquist", "given": "Richard", "initials": "R", "orcid": "0000-0002-0211-8788", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/dc038c13a8cb44bd93f3552ed250a179.json"}}, {"family": "Saw", "given": "Aung Min", "initials": "AM"}, {"family": "Spencer", "given": "Matthew", "initials": "M"}, {"family": "Stattin", "given": "Eva-Lena", "initials": "EL"}, {"family": "Srichomthong", "given": "Chalurmpon", "initials": "C"}, {"family": 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"given": "Wendy A G", "initials": "WAG"}, {"family": "Verloes", "given": "Alain", "initials": "A", "orcid": "0000-0003-4819-0264", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/5b3048d5c34e4351a0798ceaab14d0c6.json"}}, {"family": "V\u00e4sterviga", "given": "Emma", "initials": "E"}, {"family": "Wang", "given": "Sailan", "initials": "S"}, {"family": "Yang", "given": "Rachel", "initials": "R", "orcid": "0009-0009-4487-6390", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/411c4a003fa046d9bf4cc24404831800.json"}}, {"family": "Yamamoto", "given": "Shinya", "initials": "S", "orcid": "0000-0003-2172-8036", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d6471176439643efbd7f3a9dbadd145e.json"}}, {"family": "Y\u00e9pez", "given": "Vicente A", "initials": "VA", "orcid": "0000-0001-7916-3643", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/7c84bab833da47e28bbbb3429c1d71c5.json"}}, {"family": "Zhang", "given": "Qing", "initials": "Q"}, {"family": "Shotelersuk", "given": "Vorasuk", "initials": "V", "orcid": "0000-0002-1856-0589", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/6bbeaa10c71b42279813a42b442261f1.json"}}, {"family": "Wiafe", "given": "Samuel Agyei", "initials": "SA"}, {"family": "Alanay", "given": "Yasemin", "initials": "Y"}, {"family": "Botto", "given": "Lorenzo D", "initials": "LD"}, {"family": "Kirmani", "given": "Salman", "initials": "S"}, {"family": "Lumaka", "given": "Aim\u00e9", "initials": "A", "orcid": "0000-0002-5468-8678", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/9d01c8d3a9a94cab954d3889cde905a4.json"}}, {"family": "Palmer", "given": "Elizabeth Emma", "initials": "EE", "orcid": "0000-0003-1844-215X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/4e3136bf7d7f48a295b456468f171fe6.json"}}, {"family": "Puri", "given": "Ratna Dua", "initials": "RD", "orcid": "0000-0003-2694-6147", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/27b6c53312dc40d49b3954ef047bf7a4.json"}}, {"family": "Wirta", "given": "Valtteri", "initials": "V"}, {"family": "Lindstrand", "given": "Anna", "initials": "A", "orcid": "0000-0003-0806-5602", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/3d28fb4cc61f4033b2ac525fed3d6b94.json"}}, {"family": "Buske", "given": "Orion J", "initials": "OJ", "orcid": "0000-0002-9064-092X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/be1bc4e4ae4041f6ada3656a3325ddc2.json"}}, {"family": "Cederroth", "given": "Mikk", "initials": "M"}, {"family": "Nordgren", "given": "Ann", "initials": "A", "orcid": "0000-0003-3285-4281", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/02de5158a75e4fa9a5c7b8bf417a8fea.json"}}], "type": "journal article", "published": "2024-11-00", "journal": {"title": "Nat. Genet.", "issn": "1546-1718", "volume": "56", "issue": "11", "pages": "2287-2294", "issn-l": "1061-4036"}, "abstract": "The first-ever Undiagnosed Hackathon was a groundbreaking event held by the Wilhelm Foundation, the Karolinska Undiagnosed Disease Program, and PhenoTips in collaboration with UDNI to solve medical mysteries and advance diagnostics for undiagnosed rare diseases. Nearly 100 healthcare professionals and researchers from 28 countries participated, working intensively for 48 hours to diagnose 10 families with undiagnosed rare diseases. This innovative approach to precision diagnostics highlighted the power of international, multidisciplinary collaboration and patient partnership, yielding promising results for patients seeking answers and benefiting the entire rare diseases community.", "doi": "10.1038/s41588-024-01941-1", "pmid": "39433890", "labels": [], "xrefs": [{"db": "mid", "key": "NIHMS2083970"}, {"db": "pmc", "key": "PMC12198426"}, {"db": "pii", "key": "10.1038/s41588-024-01941-1"}], "notes": [], "created": "2026-09-23T11:27:58.911Z", "modified": "2026-09-23T11:28:00.615Z"}, {"entity": "publication", "iuid": "1ed3f0e7984e4e87945fcb8f7c06e06b", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/1ed3f0e7984e4e87945fcb8f7c06e06b.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/1ed3f0e7984e4e87945fcb8f7c06e06b"}}, "title": "High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses.", "authors": [{"family": "Hammarsj\u00f6", "given": "Anna", "initials": "A", "orcid": "0000-0001-6585-0944", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/5427cabb69624daebdba4d7068c8be46.json"}}, {"family": "Pettersson", "given": "Maria", "initials": "M"}, {"family": "Chitayat", "given": "David", "initials": "D"}, {"family": "Handa", "given": "Atsuhiko", "initials": "A", "orcid": "0000-0001-6401-4629", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f52c14a1bd1c4d27a37cb80499030915.json"}}, {"family": "Anderlid", "given": "Britt-Marie", "initials": "BM"}, {"family": "Bartocci", "given": "Marco", "initials": "M"}, {"family": "Basel", "given": "Donald", "initials": "D"}, {"family": "Batkovskyte", "given": "Dominyka", "initials": "D"}, {"family": "Beleza-Meireles", "given": "Ana", "initials": "A"}, {"family": "Conner", "given": "Peter", "initials": "P"}, {"family": "Eisfeldt", "given": "Jesper", "initials": "J"}, {"family": "Girisha", "given": "Katta M", "initials": "KM"}, {"family": "Chung", "given": "Brian Hon-Yin", "initials": "BH", "orcid": "0000-0002-7044-5916", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/3e093350c7ef4b26b0f52f95115b3c58.json"}}, {"family": "Horemuzova", "given": "Eva", "initials": "E"}, {"family": "Hyodo", "given": "Hironobu", "initials": "H", "orcid": "0000-0002-1859-7525", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8ca49f6a6c264436b5ad614f2aa18169.json"}}, {"family": "Kor\u0146ejeva", "given": "Liene", "initials": "L"}, {"family": "Lagerstedt-Robinson", "given": "Kristina", "initials": "K", "orcid": "0000-0001-9848-0468", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/be7aa52cf290424f8f544a0034a1543a.json"}}, {"family": "Lin", "given": "Angela E", "initials": "AE"}, {"family": "Magnusson", "given": "M\u00e5ns", "initials": "M"}, {"family": "Moosa", "given": "Shahida", "initials": "S"}, {"family": "Nayak", "given": "Shalini S", "initials": "SS"}, {"family": "Nilsson", "given": "Daniel", "initials": "D"}, {"family": "Ohashi", "given": "Hirofumi", "initials": "H"}, {"family": "Ohashi-Fukuda", "given": "Naoko", "initials": "N"}, {"family": "Stranneheim", "given": "Henrik", "initials": "H"}, {"family": "Taylan", "given": "Fulya", "initials": "F", "orcid": "0000-0002-2907-0235", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/fc9bc4b87d0f43b9a0528e936921e5ae.json"}}, {"family": "Traberg", "given": "Rasa", "initials": "R"}, {"family": "Voss", "given": "Ulrika", "initials": "U"}, {"family": "Wirta", "given": "Valtteri", "initials": "V"}, {"family": "Nordgren", "given": "Ann", "initials": "A", "orcid": "0000-0003-3285-4281", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/02de5158a75e4fa9a5c7b8bf417a8fea.json"}}, {"family": "Nishimura", "given": "Gen", "initials": "G"}, {"family": "Lindstrand", "given": "Anna", "initials": "A", "orcid": "0000-0003-0806-5602", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/3d28fb4cc61f4033b2ac525fed3d6b94.json"}}, {"family": "Grigelioniene", "given": "Giedre", "initials": "G", "orcid": "0000-0001-9601-3137", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/98ff8041f85c45129bc17513e239c672.json"}}], "type": "journal article", "published": "2021-10-00", "journal": {"title": "J. Hum. Genet.", "issn": "1435-232X", "volume": "66", "issue": "10", "pages": "995-1008", "issn-l": "1434-5161"}, "abstract": "Skeletal ciliopathies are a heterogenous group of disorders with overlapping clinical and radiographic features including bone dysplasia and internal abnormalities. To date, pathogenic variants in at least 30 genes, coding for different structural cilia proteins, are reported to cause skeletal ciliopathies. Here, we summarize genetic and phenotypic features of 34 affected individuals from 29 families with skeletal ciliopathies. Molecular diagnostic testing was performed using massively parallel sequencing (MPS) in combination with copy number variant (CNV) analyses and in silico filtering for variants in known skeletal ciliopathy genes. We identified biallelic disease-causing variants in seven genes: DYNC2H1, KIAA0753, WDR19, C2CD3, TTC21B, EVC, and EVC2. Four variants located in non-canonical splice sites of DYNC2H1, EVC, and KIAA0753 led to aberrant splicing that was shown by sequencing of cDNA. Furthermore, CNV analyses showed an intragenic deletion of DYNC2H1 in one individual and a 6.7 Mb de novo deletion on chromosome 1q24q25 in another. In five unsolved cases, MPS was performed in family setting. In one proband we identified a de novo variant in PRKACA and in another we found a homozygous intragenic deletion of IFT74, removing the first coding exon and leading to expression of a shorter message predicted to result in loss of 40 amino acids at the N-terminus. These findings establish IFT74 as a new skeletal ciliopathy gene. In conclusion, combined single nucleotide variant, CNV and cDNA analyses lead to a high yield of genetic diagnoses (90%) in a cohort of patients with skeletal ciliopathies.", "doi": "10.1038/s10038-021-00925-x", "pmid": "33875766", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC8472897"}, {"db": "pii", "key": "10.1038/s10038-021-00925-x"}], "notes": [], "created": "2026-09-23T09:52:38.119Z", "modified": "2026-09-23T10:26:37.144Z"}]}