{"entity": "researcher", "timestamp": "2026-06-09T02:14:14.964Z", "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.scilifelab.se/researcher/684864357acd490cb627f38fed3b82a4.json"}, "display": {"href": "https://publications.scilifelab.se/researcher/684864357acd490cb627f38fed3b82a4"}}, "publications": [{"entity": "publication", "iuid": "abaf1e9bf72441a4a14b06619ce812b3", "links": {"self": {"href": "https://publications.scilifelab.se/publication/abaf1e9bf72441a4a14b06619ce812b3.json"}, "display": {"href": "https://publications.scilifelab.se/publication/abaf1e9bf72441a4a14b06619ce812b3"}}, "title": "Genome sequencing in a cohort of 32 fetuses with genetic skeletal disorders.", "authors": [{"family": "Lindel\u00f6f", "given": "Hillevi", "initials": "H"}, {"family": "Hammarsj\u00f6", "given": "Anna", "initials": "A"}, {"family": "Voss", "given": "Ulrika", "initials": "U"}, {"family": "Gaetana Piticchio", "given": "Serena", "initials": "S"}, {"family": "Conner", "given": "Peter", "initials": "P"}, {"family": "Papadogiannakis", "given": "Nikos", "initials": "N"}, {"family": "Batkovskyte", "given": "Dominyka", "initials": "D", "orcid": "0000-0002-0492-1259", "researcher": {"href": "https://publications.scilifelab.se/researcher/017749b78ac540a6b2a36303130606f2.json"}}, {"family": "Orellana", "given": "Laura", "initials": "L", "orcid": "0000-0003-1927-555X", "researcher": {"href": "https://publications.scilifelab.se/researcher/c614cf477d9044e28ae901600cc84e7d.json"}}, {"family": "Kvarnung", "given": "Malin", "initials": "M"}, {"family": "Malmgren", "given": "Helena", "initials": "H"}, {"family": "Lagerstedt Robinson", "given": "Kristina", "initials": "K"}, {"family": "Nordgren", "given": "Ann", "initials": "A", "orcid": "0000-0003-3285-4281", "researcher": {"href": "https://publications.scilifelab.se/researcher/08e74c6ddc27493696beca0883027cdd.json"}}, {"family": "Lindstrand", "given": "Anna", "initials": "A", "orcid": "0000-0003-0806-5602", "researcher": {"href": "https://publications.scilifelab.se/researcher/07f3e6152da043d38c7a81974fcf8c23.json"}}, {"family": "Nishimura", "given": "Gen", "initials": "G"}, {"family": "Grigelioniene", "given": "Giedre", "initials": "G", "orcid": "0000-0001-9601-3137", "researcher": {"href": "https://publications.scilifelab.se/researcher/684864357acd490cb627f38fed3b82a4.json"}}], "type": "journal article", "published": "2025-11-00", "journal": {"title": "Eur. J. Hum. Genet.", "issn": "1476-5438", "volume": "33", "issue": "11", "pages": "1474-1483", "issn-l": "1018-4813"}, "abstract": "Approximately 200 genetic skeletal disorders can present prenatally, detectable through ultrasound abnormalities during pregnancy. Severe forms are typically identified during the first or second trimester, whereas milder phenotypes are recognized later, in the third trimester. Diagnosing skeletal dysplasia prenatally is challenging due to the large number of disorders and the overlapping clinical findings that can be detected by ultrasound. This study, conducted at Karolinska University Hospital between 2015 and 2022, examines the genetic and radiographic findings in 32 fetuses (14 female and 18 male, from unrelated families) with skeletal abnormalities detected on prenatal ultrasound and confirmed by radiographs at birth or after pregnancy termination. Fetal DNA samples from all 32 fetuses underwent singleton genome sequencing using an in silico skeletal dysplasia gene panel. As a second step, for six fetuses with molecularly unsolved diagnoses, trio genome sequencing analysis involving the fetus and both parents was performed. The diagnostic yield of genome sequencing was 72%, with pathogenic or likely pathogenic variants identified in 23 of the 32 fetuses. Additionally, four variants of uncertain significance, strongly suspected to be causative based on clinical and radiographic features, as well as structural protein analyses, were identified in four fetuses with autosomal recessive conditions. The diagnoses of five fetuses remain molecularly unsolved. In conclusion, by combining detailed phenotypic data with singleton genome sequencing we were able to reach a genetic diagnosis in 72% of 32 fetal genetic skeletal disorder cases investigated at the Karolinska University Hospital.", "doi": "10.1038/s41431-025-01886-x", "pmid": "40500351", "labels": {"Clinical Genomics Stockholm": "Service", "Clinical Genomics": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC12583725"}, {"db": "pii", "key": "10.1038/s41431-025-01886-x"}], "notes": [], "created": "2025-11-18T20:45:58.654Z", "modified": "2025-11-28T18:04:38.525Z"}, {"entity": "publication", "iuid": "02e4a96bd1644591b971594bf5ff25ed", "links": {"self": {"href": "https://publications.scilifelab.se/publication/02e4a96bd1644591b971594bf5ff25ed.json"}, "display": {"href": "https://publications.scilifelab.se/publication/02e4a96bd1644591b971594bf5ff25ed"}}, "title": "Unclassifiable short-rib thoracic dysplasia diagnosed using targeted gene panel sequencing.", "authors": [{"family": "Nakajima", "given": "Erika", "initials": "E"}, {"family": "Yokohama", "given": "Yuko", "initials": "Y"}, {"family": "Sugiyama", "given": "Saori", "initials": "S"}, {"family": "Taketazu", "given": "Mio", "initials": "M"}, {"family": "Mitsube", "given": "Kenrokuro", "initials": "K"}, {"family": "Yamada", "given": "Takahiro", "initials": "T"}, {"family": "Hammarsj\u00f6", "given": "Anna", "initials": "A"}, {"family": "Grigelioniene", "given": "Giedre", "initials": "G", "orcid": "0000-0001-9601-3137", "researcher": {"href": "https://publications.scilifelab.se/researcher/684864357acd490cb627f38fed3b82a4.json"}}, {"family": "Nishimura", "given": "Gen", "initials": "G"}, {"family": "Makita", "given": "Yoshio", "initials": "Y", "orcid": "0000-0002-0341-5709", "researcher": {"href": "https://publications.scilifelab.se/researcher/8b88cf49376c48abb48eb26f0f53f299.json"}}], "type": "journal article", "published": "2024-12-03", "journal": {"title": "Hum Genome Var", "issn": "2054-345X", "volume": "11", "issue": "1", "pages": "44", "issn-l": "2054-345X"}, "abstract": "We report a case of a fetus with short-rib thoracic dysplasia (SRTD) with polydactyly that also presented with atypical severe acro-mesomelic ossification defects. Genetic analysis using massively parallel sequencing of a skeletal dysplasia panel revealed compound heterozygous variants in DYNC2H1. This clinical report highlights the challenges associated with diagnosing the diverse phenotypes in the SRTD group and emphasizes the importance of genetic surveillance with a targeted gene panel for accurate diagnosis.", "doi": "10.1038/s41439-024-00302-y", "pmid": "39622812", "labels": {"Clinical Genomics Stockholm": "Service", "Clinical Genomics": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC11612155"}, {"db": "pii", "key": "10.1038/s41439-024-00302-y"}], "notes": [], "created": "2025-11-18T20:43:14.534Z", "modified": "2025-11-18T20:44:50.388Z"}, {"entity": "publication", "iuid": "46b3ed67f2a843ca94d9f62dbdd2fa42", "links": {"self": {"href": "https://publications.scilifelab.se/publication/46b3ed67f2a843ca94d9f62dbdd2fa42.json"}, "display": {"href": "https://publications.scilifelab.se/publication/46b3ed67f2a843ca94d9f62dbdd2fa42"}}, "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.scilifelab.se/researcher/e5e5d5e55948460d964544438d221c34.json"}}, {"family": "Cederroth", "given": "Helene", "initials": "H", "orcid": "0000-0002-5522-3418", "researcher": {"href": "https://publications.scilifelab.se/researcher/bcdb1f50435a4fce8814882e22a69b37.json"}}, {"family": "Taylan", "given": "Fulya", "initials": "F", "orcid": "0000-0002-2907-0235", "researcher": {"href": "https://publications.scilifelab.se/researcher/c250909cc40f42ff9d6e2f640d12451b.json"}}, {"family": "Ekholm", "given": "Katja", "initials": "K", "orcid": "0009-0005-8231-8876", "researcher": {"href": "https://publications.scilifelab.se/researcher/d36170b3e310492f8a3d6a70edbe8f24.json"}}, {"family": "Ek", "given": "Marlene", "initials": "M"}, {"family": "Thonberg", "given": "H\u00e5kan", "initials": "H"}, {"family": "Jemt", "given": "Anders", "initials": "A", "orcid": "0000-0002-2219-0197", "researcher": {"href": "https://publications.scilifelab.se/researcher/5cc562a42048411aa86ded8e0bd90852.json"}}, {"family": "Nilsson", "given": "Daniel", "initials": "D"}, {"family": "Eisfeldt", "given": "Jesper", "initials": "J"}, {"family": "Bilgrav Saether", "given": "Kristine", "initials": "K"}, {"family": "H\u00f6ijer", "given": "Ida", "initials": "I"}, {"family": "Akgun-Dogan", "given": "Ozlem", "initials": "O"}, {"family": "Asano", "given": "Yui", "initials": "Y"}, {"family": "Barakat", "given": "Tahsin Stefan", "initials": "TS", "orcid": "0000-0003-1231-1562", "researcher": {"href": "https://publications.scilifelab.se/researcher/05636291c79b4835a863d66a221025c7.json"}}, {"family": "Batkovskyte", "given": "Dominyka", "initials": "D", "orcid": "0000-0002-0492-1259", "researcher": {"href": "https://publications.scilifelab.se/researcher/017749b78ac540a6b2a36303130606f2.json"}}, {"family": "Baynam", "given": "Gareth", "initials": "G", "orcid": "0000-0003-4920-9553", "researcher": {"href": "https://publications.scilifelab.se/researcher/bd6905ffc70041b980e4398d68eb114c.json"}}, {"family": "Bodamer", "given": "Olaf", "initials": "O", "orcid": "0000-0002-7847-552X", "researcher": {"href": "https://publications.scilifelab.se/researcher/0aa490ac1a9f44c0b73be02898f51212.json"}}, {"family": "Chetruengchai", "given": "Wanna", "initials": "W"}, {"family": "Corcoran", "given": "P\u00e1draic", "initials": "P"}, {"family": "Couse", "given": "Madeline", "initials": "M"}, {"family": "Danis", "given": "Daniel", "initials": "D", "orcid": "0000-0003-0900-3411", "researcher": {"href": "https://publications.scilifelab.se/researcher/6a25afd9229a48968ecb47d2315b964f.json"}}, {"family": "Demidov", "given": "German", "initials": "G", "orcid": "0000-0001-9075-4276", "researcher": {"href": "https://publications.scilifelab.se/researcher/4157231d1af64838a00ee99b9d0e6676.json"}}, {"family": "Dohi", "given": "Eisuke", "initials": "E", "orcid": "0000-0002-5365-4900", "researcher": {"href": 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"given": "Vincenzo", "initials": "V"}, {"family": "Nordgren", "given": "Felix", "initials": "F"}, {"family": "Nordlund", "given": "Jessica", "initials": "J", "orcid": "0000-0001-8699-9959", "researcher": {"href": "https://publications.scilifelab.se/researcher/ddf48c9262134821bcc6ce1180049753.json"}}, {"family": "Orrsj\u00f6", "given": "Sara", "initials": "S", "orcid": "0009-0008-9223-3923", "researcher": {"href": "https://publications.scilifelab.se/researcher/acd6e5385a7b4406b973a3adbed96245.json"}}, {"family": "Ottosson", "given": "Jesper", "initials": "J"}, {"family": "Ozbek", "given": "Ugur", "initials": "U", "orcid": "0000-0001-5319-0547", "researcher": {"href": "https://publications.scilifelab.se/researcher/a9f5f921edb64de6ac115abdd57e55d3.json"}}, {"family": "\u00d6zdemir", "given": "\u00d6zkan", "initials": "\u00d6"}, {"family": "Partin", "given": "Clyde", "initials": "C", "orcid": "0000-0003-3996-9604", "researcher": {"href": 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"orcid": "0000-0003-2172-8036", "researcher": {"href": "https://publications.scilifelab.se/researcher/90c060c592574ce58cda8bf0339281d7.json"}}, {"family": "Y\u00e9pez", "given": "Vicente A", "initials": "VA", "orcid": "0000-0001-7916-3643", "researcher": {"href": "https://publications.scilifelab.se/researcher/661e0ca688574056bc9952c2ccdd19a4.json"}}, {"family": "Zhang", "given": "Qing", "initials": "Q"}, {"family": "Shotelersuk", "given": "Vorasuk", "initials": "V", "orcid": "0000-0002-1856-0589", "researcher": {"href": "https://publications.scilifelab.se/researcher/645f2ef9414e4301af16d3fd7841b4a2.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.scilifelab.se/researcher/604f009096d94902a984f0dcef8ea9a4.json"}}, {"family": "Palmer", "given": "Elizabeth Emma", "initials": "EE", "orcid": "0000-0003-1844-215X", "researcher": {"href": "https://publications.scilifelab.se/researcher/14a2059bb4314217bdf97310285da941.json"}}, {"family": "Puri", "given": "Ratna Dua", "initials": "RD", "orcid": "0000-0003-2694-6147", "researcher": {"href": "https://publications.scilifelab.se/researcher/be27a5b2e8924201be34b890b479878d.json"}}, {"family": "Wirta", "given": "Valtteri", "initials": "V"}, {"family": "Lindstrand", "given": "Anna", "initials": "A", "orcid": "0000-0003-0806-5602", "researcher": {"href": "https://publications.scilifelab.se/researcher/07f3e6152da043d38c7a81974fcf8c23.json"}}, {"family": "Buske", "given": "Orion J", "initials": "OJ", "orcid": "0000-0002-9064-092X", "researcher": {"href": "https://publications.scilifelab.se/researcher/4bff68f288e34d81a1412ce98556d8f2.json"}}, {"family": "Cederroth", "given": "Mikk", "initials": "M"}, {"family": "Nordgren", "given": "Ann", "initials": "A", "orcid": "0000-0003-3285-4281", "researcher": {"href": "https://publications.scilifelab.se/researcher/08e74c6ddc27493696beca0883027cdd.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": {"NGI Uppsala (SNP&SEQ Technology Platform)": "Collaborative", "National Genomics Infrastructure": "Service", "Clinical Genomics Gothenburg": "Service", "NGI Uppsala (Uppsala Genome Center)": "Service", "NGI Long read": "Service", "Clinical Genomics Stockholm": "Service", "Clinical Genomics Uppsala": "Collaborative", "Bioinformatics Support for Computational Resources": "Service", "Clinical Genomics": "Service"}, "xrefs": [{"db": "mid", "key": "NIHMS2083970"}, {"db": "pmc", "key": "PMC12198426"}, {"db": "pii", "key": "10.1038/s41588-024-01941-1"}], "notes": [], "created": "2024-10-22T07:24:36.866Z", "modified": "2025-11-20T20:34:52.025Z"}, {"entity": "publication", "iuid": "af488245ad1b47a38b9e0689bb99e1f7", "links": {"self": {"href": "https://publications.scilifelab.se/publication/af488245ad1b47a38b9e0689bb99e1f7.json"}, "display": {"href": "https://publications.scilifelab.se/publication/af488245ad1b47a38b9e0689bb99e1f7"}}, "title": "Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders.", "authors": [{"family": "Batkovskyte", "given": "Dominyka", "initials": "D"}, {"family": "McKenzie", "given": "Fiona", "initials": "F"}, {"family": "Taylan", "given": "Fulya", "initials": "F", "orcid": "0000-0002-2907-0235", "researcher": {"href": "https://publications.scilifelab.se/researcher/c250909cc40f42ff9d6e2f640d12451b.json"}}, {"family": "Simsek-Kiper", "given": "Pelin Ozlem", "initials": "PO"}, {"family": "Nikkel", "given": "Sarah M", "initials": "SM"}, {"family": "Ohashi", "given": "Hirofumi", "initials": "H"}, {"family": "Stevenson", "given": "Roger E", "initials": "RE"}, {"family": "Ha", "given": "Thuong", "initials": "T"}, {"family": "Cavalcanti", "given": "Denise P", "initials": "DP"}, {"family": "Miyahara", "given": "Hiroyuki", "initials": "H"}, {"family": "Skinner", "given": "Steven A", "initials": "SA"}, {"family": "Aguirre", "given": "Miguel A", "initials": "MA"}, {"family": "Ak\u00e7\u00f6ren", "given": "Z\u00fchal", "initials": "Z"}, {"family": "Utine", "given": "Gulen Eda", "initials": "GE"}, {"family": "Chiu", "given": "Tillie", "initials": "T"}, {"family": "Shimizu", "given": "Kenji", "initials": "K", "orcid": "0000-0002-2732-8722", "researcher": {"href": "https://publications.scilifelab.se/researcher/3ed999c64ff94fe4826ce8379029a1b2.json"}}, {"family": "Hammarsj\u00f6", "given": "Anna", "initials": "A"}, {"family": "Boduroglu", "given": "Koray", "initials": "K"}, {"family": "Moore", "given": "Hannah W", "initials": "HW"}, {"family": "Louie", "given": "Raymond J", "initials": "RJ"}, {"family": "Arts", "given": "Peer", "initials": "P"}, {"family": "Merrihew", "given": "Allie N", "initials": "AN"}, {"family": "Babic", "given": "Milena", "initials": "M"}, {"family": "Jackson", "given": "Matilda R", "initials": "MR"}, {"family": "Papadogiannakis", "given": "Nikos", "initials": "N"}, {"family": "Lindstrand", "given": "Anna", "initials": "A"}, {"family": "Nordgren", "given": "Ann", "initials": "A"}, {"family": "Barnett", "given": "Christopher P", "initials": "CP"}, {"family": "Scott", "given": "Hamish S", "initials": "HS", "orcid": "0000-0002-5813-631X", "researcher": {"href": "https://publications.scilifelab.se/researcher/dabd7f9a75aa49a0856cd3f697739a11.json"}}, {"family": "Chagin", "given": "Andrei S", "initials": "AS"}, {"family": "Nishimura", "given": "Gen", "initials": "G"}, {"family": "Grigelioniene", "given": "Giedre", "initials": "G", "orcid": "0000-0001-9601-3137", "researcher": {"href": "https://publications.scilifelab.se/researcher/684864357acd490cb627f38fed3b82a4.json"}}], "type": "journal article", "published": "2023-05-00", "journal": {"title": "J. Bone Miner. Res.", "issn": "1523-4681", "volume": "38", "issue": "5", "pages": "692-706", "issn-l": "0884-0431"}, "abstract": "Lethal short-limb skeletal dysplasia Al-Gazali type (OMIM %601356), also called dysplastic cortical hyperostosis, Al-Gazali type, is an ultra-rare disorder previously reported in only three unrelated individuals. The genetic etiology for Al-Gazali skeletal dysplasia has up until now been unknown. Through international collaborative efforts involving seven clinical centers worldwide, a cohort of nine patients with clinical and radiographic features consistent with short-limb skeletal dysplasia Al-Gazali type was collected. The affected individuals presented with moderate intrauterine growth restriction, relative macrocephaly, hypertrichosis, large anterior fontanelle, short neck, short and stiff limbs with small hands and feet, severe brachydactyly, and generalized bone sclerosis with mild platyspondyly. Biallelic disease-causing variants in ADAMTSL2 were detected using massively parallel sequencing (MPS) and Sanger sequencing techniques. Six individuals were compound heterozygous and one individual was homozygous for pathogenic variants in ADAMTSL2. In one of the families, pathogenic variants were detected in parental samples only. Overall, this study sheds light on the genetic cause of Al-Gazali skeletal dysplasia and identifies it as a semi-lethal part of the spectrum of ADAMTSL2-related disorders. Furthermore, we highlight the importance of meticulous analysis of the pseudogene region of ADAMTSL2 where disease-causing variants might be located. \u00a9 2023 The Authors. Journal of Bone and Mineral Research published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research (ASBMR).", "doi": "10.1002/jbmr.4799", "pmid": "36896612", "labels": {"Clinical Genomics Stockholm": "Service", "Bioinformatics Support for Computational Resources": "Service", "Clinical Genomics": "Service"}, "xrefs": [], "notes": [], "created": "2023-12-04T11:30:24.900Z", "modified": "2024-01-16T13:48:33.517Z"}, {"entity": "publication", "iuid": "cf455f938530449ea97efa2baec43961", "links": {"self": {"href": "https://publications.scilifelab.se/publication/cf455f938530449ea97efa2baec43961.json"}, "display": {"href": "https://publications.scilifelab.se/publication/cf455f938530449ea97efa2baec43961"}}, "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.scilifelab.se/researcher/10b111d2b20a447a88a3a95af425cf14.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.scilifelab.se/researcher/8b3be1c4b2174983a06b8e69e339bca9.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.scilifelab.se/researcher/73f2da34809a40ffbbc77e47e786baa2.json"}}, {"family": "Horemuzova", "given": "Eva", "initials": "E"}, {"family": "Hyodo", "given": "Hironobu", "initials": "H", "orcid": "0000-0002-1859-7525", "researcher": {"href": "https://publications.scilifelab.se/researcher/f4cacab0283346f083200ac21d749de6.json"}}, {"family": "Kor\u0146ejeva", "given": "Liene", "initials": "L"}, {"family": "Lagerstedt-Robinson", "given": "Kristina", "initials": "K", "orcid": "0000-0001-9848-0468", "researcher": {"href": "https://publications.scilifelab.se/researcher/63d275105d9b4253944abaa311c986ee.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.scilifelab.se/researcher/c250909cc40f42ff9d6e2f640d12451b.json"}}, {"family": "Traberg", "given": "Rasa", "initials": "R"}, {"family": "Voss", "given": "Ulrika", "initials": "U"}, {"family": "Wirta", "given": "Valtteri", "initials": "V", "orcid": "0000-0003-3811-5439", "researcher": {"href": "https://publications.scilifelab.se/researcher/cba024b2e3c347f6b981922d984ad2d6.json"}}, {"family": "Nordgren", "given": "Ann", "initials": "A", "orcid": "0000-0003-3285-4281", "researcher": {"href": "https://publications.scilifelab.se/researcher/08e74c6ddc27493696beca0883027cdd.json"}}, {"family": "Nishimura", "given": "Gen", "initials": "G"}, {"family": "Lindstrand", "given": "Anna", "initials": "A", "orcid": "0000-0003-0806-5602", "researcher": {"href": "https://publications.scilifelab.se/researcher/07f3e6152da043d38c7a81974fcf8c23.json"}}, {"family": "Grigelioniene", "given": "Giedre", "initials": "G", "orcid": "0000-0001-9601-3137", "researcher": {"href": "https://publications.scilifelab.se/researcher/684864357acd490cb627f38fed3b82a4.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": {"Clinical Genomics Stockholm": "Service", "NGI Stockholm (Genomics Production)": null, "NGI Stockholm (Genomics Applications)": null, "National Genomics Infrastructure": null, "Bioinformatics Support for Computational Resources": "Service", "Clinical Genomics": "Service"}, "xrefs": [{"db": "pii", "key": "10.1038/s10038-021-00925-x"}, {"db": "pmc", "key": "PMC8472897"}], "notes": [], "created": "2021-04-26T21:54:07.828Z", "modified": "2024-01-16T13:48:38.399Z"}, {"entity": "publication", "iuid": "4aafa04d605d452eacd2d3a16fef0c5d", "links": {"self": {"href": "https://publications.scilifelab.se/publication/4aafa04d605d452eacd2d3a16fef0c5d.json"}, "display": {"href": "https://publications.scilifelab.se/publication/4aafa04d605d452eacd2d3a16fef0c5d"}}, "title": "A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach\u2013Nishimura skeletal dysplasia due to pathogenic variants in ALG9", "authors": [{"family": "Tham", "given": "Emma", "initials": "E"}, {"family": "Eklund", "given": "Erik A", "initials": "EA"}, {"family": "Hammarsj\u00f6", "given": "Anna", "initials": "A"}, {"family": "Bengtson", "given": "Per", "initials": "P"}, {"family": "Geiberger", "given": "Stefan", "initials": "S"}, {"family": "Lagerstedt-Robinson", "given": "Kristina", "initials": "K", "orcid": "0000-0001-9848-0468", "researcher": {"href": "https://publications.scilifelab.se/researcher/63d275105d9b4253944abaa311c986ee.json"}}, {"family": "Malmgren", "given": "Helena", "initials": "H"}, {"family": "Nilsson", "given": "Daniel", "initials": "D"}, {"family": "Grigelionis", "given": "Gintautas", "initials": "G"}, {"family": "Conner", "given": "Peter", "initials": "P"}, {"family": "Lindgren", "given": "Peter", "initials": "P"}, {"family": "Lindstrand", "given": "Anna", "initials": "A"}, {"family": "Wedell", "given": "Anna", "initials": "A", "orcid": "0000-0002-2612-6301", "researcher": {"href": "https://publications.scilifelab.se/researcher/15f660ec95994b6a83d540e48c9b7610.json"}}, {"family": "Alb\u00e5ge", "given": "Margareta", "initials": "M"}, {"family": "Zielinska", "given": "Katarzyna", "initials": "K"}, {"family": "Nordgren", "given": "Ann", "initials": "A"}, {"family": "Papadogiannakis", "given": "Nikos", "initials": "N"}, {"family": "Nishimura", "given": "Gen", "initials": "G"}, {"family": "Grigelioniene", "given": "Giedre", "initials": "G", "orcid": "0000-0001-9601-3137", "researcher": {"href": "https://publications.scilifelab.se/researcher/684864357acd490cb627f38fed3b82a4.json"}}], "type": "journal-article", "published": "2016-02-00", "journal": {"volume": "24", "issn": "1018-4813", "issue": "2", "pages": "198-207", "title": "Eur J Hum Genet", "issn-l": "1018-4813"}, "abstract": "A rare lethal autosomal recessive syndrome with skeletal dysplasia, polycystic kidneys and multiple malformations was first described by Gillessen-Kaesbach et al and subsequently by Nishimura et al. The skeletal features uniformly comprise a round pelvis, mesomelic shortening of the upper limbs and defective ossification of the cervical spine. We studied two unrelated families including three affected fetuses with Gillessen-Kaesbach-Nishimura syndrome using whole-exome and Sanger sequencing, comparative genome hybridization and homozygosity mapping. All affected patients were shown to have a novel homozygous splice variant NM_024740.2: c.1173+2T>A in the ALG9 gene, encoding alpha-1,2-mannosyltransferase, involved in the formation of the lipid-linked oligosaccharide precursor of N-glycosylation. RNA analysis demonstrated skipping of exon 10, leading to shorter RNA. Mass spectrometric analysis showed an increase in monoglycosylated transferrin as compared with control tissues, confirming that this is a congenital disorder of glycosylation (CDG). Only three liveborn children with ALG9-CDG have been previously reported, all with missense variants. All three suffered from intellectual disability, muscular hypotonia, microcephaly and renal cysts, but none had skeletal dysplasia. Our study shows that some pathogenic variants in ALG9 can present as a lethal skeletal dysplasia with visceral malformations as the most severe phenotype. The skeletal features overlap with that previously reported for ALG3- and ALG12-CDG, suggesting that this subset of glycosylation disorders constitutes a new diagnostic group of skeletal dysplasias.", "doi": "10.1038/ejhg.2015.91", "pmid": "25966638", "labels": {"Clinical Genomics Stockholm": null, "Clinical Genomics": null}, "xrefs": [{"db": "pmc", "key": "PMC4717212"}, {"db": "pii", "key": "ejhg201591"}], "notes": [], "created": "2017-05-02T12:58:45.616Z", "modified": "2023-06-19T11:58:10.737Z"}]}