Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.

Autor: Delgado-Vega AM; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden. angelica.delgado.vega@ki.se.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden. angelica.delgado.vega@ki.se., Cederroth H; Wilhelm Foundation, Brottby, Sweden., Taylan F; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Ekholm K; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Ek M; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Thonberg H; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Jemt A; Science for Life Laboratory, Department of Microbiology, Tumor and Cell Biology, Karolinska Institutet, Stockholm, Sweden.; Genomic Medicine Center Karolinska, Karolinska University Hospital, Stockholm, Sweden., Nilsson D; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Science for Life Laboratory, Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Eisfeldt J; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Science for Life Laboratory, Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Bilgrav Saether K; Science for Life Laboratory, Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Höijer I; Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.; Science for Life Laboratory, Uppsala University, Uppsala, Sweden., Akgun-Dogan O; Division of Pediatric Genetics, Department of Pediatrics, School of Medicine, Acibadem University, Istanbul, Turkey.; ACURARE, Acibadem University Rare Diseases and Orphan Drugs Application and Research Center, Istanbul, Turkey.; Department of Medical Genetics, Acibadem University, Istanbul, Turkey., Asano Y; Swallow Design Studio, Tokyo, Japan., Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, the Netherlands., Batkovskyte D; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Baynam G; Rare Care Centre, Perth Children's Hospital, Perth, Western Australia, Australia.; Western Australian Register of Developmental Anomalies, Perth, Western Australia, Australia.; Undiagnosed Diseases Program, Genetic Health WA, King Edward Memorial Hospital, Perth, Western Australia, Australia.; Faculty of Medicine, Australian National University, Perth, Western Australia, Australia., Bodamer O; Department of Pediatrics, Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Chetruengchai W; Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand., Corcoran P; Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.; Science for Life Laboratory, Uppsala University, Uppsala, Sweden., Couse M; Centre for Computational Medicine, Hospital for Sick Children, Toronto, Ontario, Canada., Danis D; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA., Demidov G; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Dohi E; National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan., Erhardsson M; Department of Medical Biochemistry and Cell Biology, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden., Fernandez-Luna L; International Laboratory for Human Genome Research, Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México (UNAM), Querétaro, Mexico., Fujiwara T; Database Center for Life Science, Joint Support-Center for Data Science Research, Research Organization of Information and Systems, Chiba, Japan., Garg N; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India., Giugliani R; Casa dos Raros, Porto Alegre, Brazil.; Department of Genetics, Federal University of Rio Grande do Sul, Porto Alegre, Brazil.; Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil.; Dasa Genomica, São Paulo, Brazil., Gonzaga-Jauregui C; International Laboratory for Human Genome Research, Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México (UNAM), Querétaro, Mexico., Grigelioniene G; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Groza T; Rare Care Centre, Perth Children's Hospital, Perth, Western Australia, Australia.; SingHealth Duke-NUS Institute of Precision Medicine, Singapore, Singapore.; Telethon Kids Institute, Perth, Western Australia, Australia.; School of Electrical Engineering, Computing and Mathematical Sciences, Curtin University, Perth, Western Australia, Australia., Gunnarsson C; Department of Clinical Genetics, Department of Biomedical and Clinical Sciences, Centre for Rare Diseases in Southeast Region of Sweden, Linköping University, Linköping, Sweden., Hammarsjö A; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Hammond CK; Division of Pediatric Genetics, Department of Pediatrics, School of Medicine, Acibadem University, Istanbul, Turkey.; Department of Child Health, Komfo Anokye Teaching Hospital, Kwame Nkrumah University of Science and Technology, Kumasi, Ghana., Hatirnaz Ng Ö; ACURARE, Acibadem University Rare Diseases and Orphan Drugs Application and Research Center, Istanbul, Turkey.; Department of Medical Genetics, Acibadem University, Istanbul, Turkey.; Department of Medical Biology, School of Medicine, Acibadem University, Istanbul, Turkey., Hesketh S; Oxford Nanopore Technologies, Oxford, UK., Hettiarachchi D; Department of Anatomy, Genetics and Biomedical Informatics, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka., Johansson Soller M; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Kirmani UA; Karachi Grammar School, Karachi, Pakistan., Kjellberg M; KTH Royal Institute of Technology, Stockholm, Sweden., Kvarnung M; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Kvlividze O; School of Medicine, New Vision University, Tbilisi, Georgia.; Georgian Foundation for Genetic and Rare Diseases, Tbilisi, Georgia., Lagerstedt-Robinson K; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Lasko P; Department of Biology, McGill University, Montreal, Quebec, Canada., Lassmann T; Telethon Kids Institute, University of Western Australia, Perth, Western Australia, Australia., Lau LYS; Genome Diagnostic, The Hospital for Sick Children, Toronto, Ontario, Canada., Laurie S; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain., Lim WK; SingHealth Duke-NUS Institute of Precision Medicine, Singapore, Singapore.; Cancer & Stem Cell Biology Program, Duke-NUS Medical School, Singapore, Singapore.; SingHealth Duke-NUS Genomic Medicine Centre, Singapore, Singapore.; Genome Institute of Singapore, Agency for Science, Technology and Research (A*STAR), Singapore, Singapore., Liu Z; Baylor College of Medicine, One Baylor Plaza, Houston, TX, USA., Lysenkova Wiklander M; Science for Life Laboratory, Uppsala University, Uppsala, Sweden.; Department of Medical Sciences, Uppsala University, Uppsala, Sweden., Makay P; Centre for Human Genetics, University of Kinshasa, Kinshasa, DR, Congo., Maiga AB; Faculté de Médecine et d'Odontostomatologie, Université des Sciences, des Techniques et des Technologies de Bamako, Bamako, Mali., Maya-González C; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Meyn MS; Center for Human Genomics and Precision Medicine, University of Wisconsin-Madison, Madison, WI, USA.; Department of Pediatrics, University of Wisconsin-Madison, Madison, WI, USA., Neethiraj R; Science for Life Laboratory, Department of Microbiology, Tumor and Cell Biology, Karolinska Institutet, Stockholm, Sweden.; School of Engineering Science in Chemistry, Biotechnology and Health, KTH Royal Institute of Technology, Stockholm, Sweden., Nigro V; Department of Precision Medicine, Università della Campania Luigi Vanvitelli, Naples, Italy.; TIGEM (Telethon Institute of Genetics and Medicine), Naples, Italy., Nordgren F; Department of Management and Engineering, Linköping University, Linköping, Sweden., Nordlund J; Science for Life Laboratory, Uppsala University, Uppsala, Sweden.; Department of Medical Sciences, Uppsala University, Uppsala, Sweden., Orrsjö S; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden.; Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden., Ottosson J; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden.; Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden., Ozbek U; ACURARE, Acibadem University Rare Diseases and Orphan Drugs Application and Research Center, Istanbul, Turkey.; Rare and Undiagnosed Disease Platform-RUDiP, Izmir Biomedicine and Genome Center-IBG, Izmir, Turkey., Özdemir Ö; ACURARE, Acibadem University Rare Diseases and Orphan Drugs Application and Research Center, Istanbul, Turkey.; Department of Medical Biology, School of Medicine, Acibadem University, Istanbul, Turkey., Partin C; Medicine, Emory Healthcare, Emory University, Atlanta, GA, USA.; Emory Special Diagnostic Services Clinic, Emory University School of Medicine, Atlanta, GA, USA., Pearce DA; Sanford Research, Sioux Falls, SD, USA.; Sanford Health, Sioux Falls, SD, USA.; Department of Pediatrics, Sanford School of Medicine, University of South Dakota, Sioux Falls, SD, USA.; International Rare Disease Research Consortium (IRDiRC)., Peck R; Clarion I, London, UK., Pedersen A; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden.; Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden., Pettersson M; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Pongpanich M; Department of Mathematics and Computer Science, Faculty of Science, Chulalongkorn University, Bangkok, Thailand.; Omics Sciences and Bioinformatics Center, Faculty of Science, Chulalongkorn University, Bangkok, Thailand., Posada de la Paz M; SpainUDP, Rare Diseases Research Institute, Instituto de Salud Carlos III, Madrid, Spain.; FCSAI, Madrid, Spain., Ramani A; Invitae, San Francisco, CA, USA., Romero JA; Universidad San Francisco de Quito, Quito, Ecuador., Romero VI; Universidad San Francisco de Quito, Quito, Ecuador., Rosenquist R; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Genomic Medicine Center Karolinska, Karolinska University Hospital, Stockholm, Sweden., Saw AM; The Syndrome Without A Name (SWAN) Clinic, University Hospital of Wales, Cardiff, UK.; Department of Neurology, University Hospital of Wales, Cardiff, UK., Spencer M; The Syndrome Without A Name (SWAN) Clinic, University Hospital of Wales, Cardiff, UK., Stattin EL; Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala University Hospital, Uppsala, Sweden., Srichomthong C; Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand., Tapia-Paez I; Division of Dermatology and Venereology, Department of Medicine, Solna, Karolinska Institutet, Stockholm, Sweden., Taruscio D; National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.; Study Centre KOS-Science, Art, Society, Rome, Italy., Taylor JP; Illumina Inc, San Diego, CA, USA., Tkemaladze T; Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia.; Department of Pediatrics, Givi Zhvania Pediatric Academic Clinic, Tbilisi State Medical University, Tbilisi, Georgia.; Center for Undiagnosed and Rare Diseases, Tbilisi State Medical University, Tbilisi, Georgia., Tully I; The Syndrome Without A Name (SWAN) Clinic, University Hospital of Wales, Cardiff, UK.; Department of Clinical Genetics, University Hospital of Wales, Cardiff, UK., Tümer Z; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Medicine and Health Sciences, University of Copenhagen, Copenhagen, Denmark., van Zelst-Stams WAG; Department of Human Genetics, Radboud Institute for Health Science, Radboud University Medical Center, Nijmegen, the Netherlands., Verloes A; ERN-ITHACA European Reference Network for Rare Malformation Syndromes, Intellectual and Other Neurodevelopmental Disorders.; Department of Clinical Genetics, Robert-Debré Hospital, Paris, France., Västerviga E; Bioinformatics and Data Centre, Gothenburg University, Gothenburg, Sweden.; Bioinformatics and Data Centre, Sahlgrenska University Hospital, Gothenburg, Sweden., Wang S; Division of Dermatology and Venereology, Department of Medicine, Solna, Karolinska Institutet, Stockholm, Sweden., Yang R; Rare Diseases Center, Zhongshan Hospital, Fudan University, Shanghai, China.; China Alliance for Rare Diseases, Beijing, China., Yamamoto S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA., Yépez VA; School of Computation, Information and Technology, Technical University of Munich, Garching, Germany., Zhang Q; Illumina Inc, San Diego, CA, USA., Shotelersuk V; Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand., Wiafe SA; Rare Disease Ghana Initiative, Accra, Ghana., Alanay Y; Division of Pediatric Genetics, Department of Pediatrics, School of Medicine, Acibadem University, Istanbul, Turkey.; ACURARE, Acibadem University Rare Diseases and Orphan Drugs Application and Research Center, Istanbul, Turkey.; Department of Medical Genetics, Acibadem University, Istanbul, Turkey., Botto LD; Division of Medical Genetics, Dept of Pediatrics, University of Utah, Salt Lake City, UT, USA., Kirmani S; Division of Women & Child Health, Aga Khan University, Karachi, Pakistan., Lumaka A; Centre for Human Genetics, University of Kinshasa, Kinshasa, DR, Congo.; Department of Pediatrics, Faculty of Medicine, University of Kinshasa, Kinshasa, DR, Congo.; African Rare Diseases Initiative., Palmer EE; Discipline of Paediatrics and Child Health, Faculty of Medicine and Health, UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Clinical Genetics, Sydney Children's Hospitals Network, Randwick, New South Wales, Australia., Puri RD; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.; Ganga Ram Institute of Postgraduate Medical Education and Research (GRIPMER), Sir Ganga Ram Hospital, New Delhi, India., Wirta V; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Science for Life Laboratory, Department of Microbiology, Tumor and Cell Biology, Karolinska Institutet, Stockholm, Sweden., Lindstrand A; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Buske OJ; PhenoTips, Toronto, Ontario, Canada., Cederroth M; Wilhelm Foundation, Brottby, Sweden., Nordgren A; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden. ann.nordgren@ki.se.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden. ann.nordgren@ki.se.; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden. ann.nordgren@ki.se.; Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden. ann.nordgren@ki.se.

Publikováno v: Nature genetics [Nat Genet] 2024 Nov; Vol. 56 (11), pp. 2287-2294.

Liver, Pancreas and Kidney Transplantation for the Treatment of Wolcott–Rallison Syndrome

Autor: Tzakis, A.G. ^*, Nunnelley, M.J., Tekin, A., Buccini, L.D., Garcia, J., Uchida, K., Neville, H.L., Nares, M.A., Ruiz, P., Bodamer, O.

Publikováno v: In American Journal of Transplantation February 2015 15(2):565-567

Magnetic resonance spectroscopy in patients with Fabry and Gaucher disease

Autor: Gruber, S., Bogner, W., Stadlbauer, A., Krssak, M., Bodamer, O.

Publikováno v: In European Journal of Radiology 2011 79(2):295-298

Characterizing the molecular impact of KMT2D variants on the epigenetic and transcriptional landscapes in Kabuki syndrome.

Autor: Jung YL; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA., Hung C; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA., Choi J; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA., Lee EA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA., Bodamer O; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA.; Broad Institute of Harvard University and MIT, Cambridge, MA 02142, USA.

Publikováno v: Human molecular genetics [Hum Mol Genet] 2023 Jun 19; Vol. 32 (13), pp. 2251-2261.

Correction to ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

Autor: Carapito, R. (Raphaël), Ivanova, E. (Ekaterina), Morlon, A. (Aurore), Meng, L. (Linyan), Molitor, A. (Anne), Erdmann, E. (Eva), Kieffer, B. (Bruno), Pichot, A. (Angélique), Naegely, L. (Lydie), Kolmer, A. (Aline), Paul, N. (Nicodème), Hanauer, A. (Antoine), Tran Mau-Them, F. (Frédéric), Jean-Marçais, N. (Nolwenn), Hiatt, S. (Susan), Cooper, G. (Gregory), Tvrdik, T. (Tatiana), Muir, A. (Alison), Dimartino, C. (Clémantine), Chopra, M. (Maya), Amiel, J. (Jeanne), Gordon, C. (Christopher), Dutreux, F. (Fabien), Garde, A. (Aurore), Thauvin-Robinet, C. (Christel), Wang, X. (Xia), Leduc, M. (Magalie), Phillips, M. (Meredith), Crawford, H. (Heather), Kukolich, M. (Mary), Hunt, D. (David), Harrison, V. (Victoria), Kharbanda, M. (Mira), Smigiel, R. (Robert), Gold, N. (Nina), Hung, C. (Christina), Viskochil, D. (David), Dugan, S. (Sarah), Bayrak-Toydemir, P. (Pinar), Joly-Helas, G. (Géraldine), Guerrot, A. (Anne-Marie), Schluth-Bolard, C. (Caroline), Rio, M. (Marlène), Wentzensen, Ingrid M., McWalter, K. (Kirsty), Schnur, R. (Rhonda), Lewis, A. (Andrea), Lalani, S. (Seema), Mensah-Bonsu, N. (Noël), Céraline, J. (Jocelyn), Sun, Z. (Zijie), Ploski, R. (Rafal), Bacino, C. (Carlos), Mefford, H. (Heather), Faivre, L. (Laurence), Bodamer, O. (Olaf), Chelly, J. (Jamel), Isidor, B. (Bertrand), Bahram, S. (Seiamak)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______4060::c3c64080c6a722d41a512a8e66c1d3da
https://linkinghub.elsevier.com/retrieve/pii/S0002929719304355