{"entity": "researcher", "timestamp": "2026-09-23T15:34:07.281Z", "family": "Partin", "given": "Clyde", "initials": "C", "orcid": "0000-0003-3996-9604", "affiliations": ["Medicine, Emory Healthcare, Emory University, Atlanta, GA, USA.", "Emory Special Diagnostic Services Clinic, Emory University School of Medicine, Atlanta, GA, USA."], "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/researcher/753737f5f9154b38ab235bcef081f6e3.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/researcher/753737f5f9154b38ab235bcef081f6e3"}}, "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": "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-affiliated.scilifelab.se/researcher/8d9219f15dbe483ea14a99e5225d18a0.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-affiliated.scilifelab.se/researcher/1f4dedd88e2e4e4f8074507a25c10d89.json"}}, {"family": "Batkovskyte", "given": "Dominyka", "initials": "D", "orcid": "0000-0002-0492-1259", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/28f4bcf0f3ac4879be01cec6236735e9.json"}}, {"family": "Baynam", "given": "Gareth", "initials": "G", "orcid": "0000-0003-4920-9553", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/7b5e5ebf7d8545f7b1778bdf8542849e.json"}}, {"family": "Bodamer", "given": "Olaf", "initials": "O", "orcid": "0000-0002-7847-552X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e191b20de9574907a2159d085541bf14.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-affiliated.scilifelab.se/researcher/296819a79ded46b8a265c14828286f3f.json"}}, {"family": "Demidov", "given": "German", "initials": "G", "orcid": "0000-0001-9075-4276", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/48aac25e194c4808bce80c799cccdd61.json"}}, {"family": "Dohi", "given": "Eisuke", "initials": "E", "orcid": "0000-0002-5365-4900", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/db967b3a403848b79a8e95a1fbd2a729.json"}}, {"family": "Erhardsson", "given": "Mattias", "initials": "M", "orcid": "0000-0002-5631-2033", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8b359c9e67e74365a135e6db8f16ff0b.json"}}, {"family": "Fernandez-Luna", "given": "Luis", "initials": "L"}, {"family": "Fujiwara", "given": "Toyofumi", "initials": "T"}, {"family": "Garg", "given": "Neha", "initials": "N"}, {"family": "Giugliani", "given": "Roberto", "initials": "R"}, {"family": "Gonzaga-Jauregui", "given": "Claudia", "initials": "C", "orcid": "0000-0002-4667-3679", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f7f714b5451b47219ea0795f5cc78b5a.json"}}, {"family": "Grigelioniene", "given": "Giedre", "initials": "G", "orcid": "0000-0001-9601-3137", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/98ff8041f85c45129bc17513e239c672.json"}}, {"family": "Groza", "given": "Tudor", "initials": "T"}, {"family": "Gunnarsson", "given": "Cecilia", "initials": "C", "orcid": "0000-0001-9474-6820", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/6ec941f61b02439d8ca5e169ac4d5596.json"}}, {"family": "Hammarsj\u00f6", "given": "Anna", "initials": "A"}, {"family": "Hammond", "given": "Charles Kumi", "initials": "CK", "orcid": "0000-0002-1482-0419", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/70c0529ac68e4c90a27dfcd0e3147e2f.json"}}, {"family": "Hatirnaz Ng", "given": "\u00d6zden", "initials": "\u00d6", "orcid": "0000-0001-7728-6527", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/7f8ce84dc8e047688f4492307d6a3f3a.json"}}, {"family": "Hesketh", "given": "Sirisha", "initials": "S"}, {"family": "Hettiarachchi", "given": "Dineshani", "initials": "D"}, {"family": "Johansson Soller", "given": "Maria", "initials": "M"}, {"family": "Kirmani", "given": "Umn Ahmed", "initials": "UA"}, {"family": "Kjellberg", "given": "Martin", "initials": "M", "orcid": "0009-0004-4345-1503", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e6eb9bec3c654d68a66b339a25cf336f.json"}}, {"family": "Kvarnung", "given": "Malin", "initials": "M"}, {"family": "Kvlividze", "given": "Oleg", "initials": "O"}, {"family": "Lagerstedt-Robinson", "given": "Kristina", "initials": "K", "orcid": "0000-0001-9848-0468", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/be7aa52cf290424f8f544a0034a1543a.json"}}, {"family": "Lasko", "given": "Paul", "initials": "P", "orcid": "0000-0002-4037-3501", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e44a785c60af41f19dece5a76bf58976.json"}}, {"family": "Lassmann", "given": "Timo", "initials": "T", "orcid": "0000-0002-0138-2691", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/beba081afce44d78884a477a08401674.json"}}, {"family": "Lau", "given": "Lynette Y S", "initials": "LYS"}, {"family": "Laurie", "given": "Steven", "initials": "S", "orcid": "0000-0003-3913-5829", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/901f47037a534e7394a00a80e50f5fce.json"}}, {"family": "Lim", "given": "Weng Khong", "initials": "WK", "orcid": "0000-0003-4391-1130", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/48d5aa8592a94f89b705e94a7c10f140.json"}}, {"family": "Liu", "given": "Zhandong", "initials": "Z"}, {"family": "Lysenkova Wiklander", "given": "Mariya", "initials": "M", "orcid": "0000-0002-0012-2310", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/5453326e6e074eb29647c56af0068603.json"}}, {"family": "Makay", "given": "Prince", "initials": "P"}, {"family": "Maiga", "given": "Alassane Baneye", "initials": "AB"}, {"family": "Maya-Gonz\u00e1lez", "given": "Carolina", "initials": "C"}, {"family": "Meyn", "given": "M Stephen", "initials": "MS"}, {"family": "Neethiraj", "given": "Ramprasad", "initials": "R"}, {"family": "Nigro", "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-affiliated.scilifelab.se/researcher/27ee07e408e24eefa23105dcc6aa252b.json"}}, {"family": "Orrsj\u00f6", "given": "Sara", "initials": "S", "orcid": "0009-0008-9223-3923", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f0601b0c65ba4f24877ef146d0ceeffe.json"}}, {"family": "Ottosson", "given": "Jesper", "initials": "J"}, {"family": "Ozbek", "given": "Ugur", "initials": "U", "orcid": "0000-0001-5319-0547", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f04976059bd54a1e923fd8339e6e9ad0.json"}}, {"family": "\u00d6zdemir", "given": "\u00d6zkan", "initials": "\u00d6"}, {"family": "Partin", "given": "Clyde", "initials": "C", "orcid": "0000-0003-3996-9604", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/753737f5f9154b38ab235bcef081f6e3.json"}}, {"family": "Pearce", "given": "David A", "initials": "DA", "orcid": "0000-0002-0707-063X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/0f96fd8be4704f0090e1cfc10f7c5b1a.json"}}, {"family": "Peck", "given": "Raquel", "initials": "R"}, {"family": "Pedersen", "given": "Annie", "initials": "A"}, {"family": "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": "Tapia-Paez", "given": "Isabel", "initials": "I", "orcid": "0000-0002-0535-4233", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8ddcb84edd324ff4884e9c9f76926fe6.json"}}, {"family": "Taruscio", "given": "Domenica", "initials": "D", "orcid": "0000-0001-5403-233X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/5be965176a474fb2a5fdefea09b3fcf5.json"}}, {"family": "Taylor", "given": "Julie P", "initials": "JP"}, {"family": "Tkemaladze", "given": "Tinatin", "initials": "T", "orcid": "0000-0003-1924-6695", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/44fe1ff9df8246cc9728e574a8ec0203.json"}}, {"family": "Tully", "given": "Ian", "initials": "I"}, {"family": "T\u00fcmer", "given": "Zeynep", "initials": "Z", "orcid": "0000-0002-4777-5802", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d3074d6787d64909b07539af517506de.json"}}, {"family": "van Zelst-Stams", "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"}]}