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RareLink: scalable REDCap-based framework for rare disease interoperability linking international registries to FHIR and Phenopackets.

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Title: RareLink: scalable REDCap-based framework for rare disease interoperability linking international registries to FHIR and Phenopackets.
Authors: Graefe ASL; Berlin Institute of Health at Charité‒Universitätsmedizin Berlin, Berlin, Germany. adam.graefe@charite.de.; Institute for Biomedical Informatics, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany. adam.graefe@charite.de., Rehburg F; Berlin Institute of Health at Charité‒Universitätsmedizin Berlin, Berlin, Germany., Alkarkoukly S; Medical Data Integration Center (MeDIC), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Danis D; Berlin Institute of Health at Charité‒Universitätsmedizin Berlin, Berlin, Germany., Grönke A; Medical Data Integration Center (MeDIC), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Hübner MR; Berlin Institute of Health at Charité‒Universitätsmedizin Berlin, Berlin, Germany., Bartschke A; Berlin Institute of Health at Charité‒Universitätsmedizin Berlin, Berlin, Germany., Debertshäuser T; Berlin Institute of Health at Charité‒Universitätsmedizin Berlin, Berlin, Germany., Klopfenstein SAI; Berlin Institute of Health at Charité‒Universitätsmedizin Berlin, Berlin, Germany., Saß J; Berlin Institute of Health at Charité‒Universitätsmedizin Berlin, Berlin, Germany., Fleck J; Center for Rare Diseases, Medical Faculty, RWTH Aachen University, Aachen, Germany., Rehberg M; Department of Pediatrics and Adolescent Medicine, Faculty of Medicine and University Hospital Cologne University of Cologne Cologne Germany, Cologne, Germany., Zschüntzsch J; Department of Neurology, University Medical Center Goettingen, Goettingen, Germany., Nyoungui EF; Department of Medical Informatics, University Medical Center Goettingen, Goettingen, Germany., Kalashnikova T; Section of Hematology and Immunology, Alberta Children's Hospital, Calgary, Canada.; University of Calgary, Calgary, Canada., Murguía-Favela L; Section of Hematology and Immunology, Alberta Children's Hospital, Calgary, Canada.; University of Calgary, Calgary, Canada., Derfalvi B; Department of Pediatrics, Division of Immunology, Dalhousie University, IWK Health, Halifax, NS, Canada., Wright NAM; Section of Hematology and Immunology, Alberta Children's Hospital, Calgary, Canada.; University of Calgary, Calgary, Canada., Moosa S; Division of Molecular Biology and Human Genetics, Stellenbosch University, Cape Town, South Africa.; Medical Genetics, Tygerberg Hospital, Cape Town, South Africa., Ogishima S; INGEM, Tohoku University, Sendai, Miyagi, Japan.; Department of Informatics for Genomic Medicine, ToMMo, Tohoku University, Sendai, Miyagi, Japan., Semler O; Department of Pediatrics and Adolescent Medicine, Faculty of Medicine and University Hospital Cologne University of Cologne Cologne Germany, Cologne, Germany., Wiegand S; Department of Pediatric Endocrinology and Diabetology, Charité University Hospital, Berlin, Germany.; Center for Chronically Sick Children, Charité Universitätsmedizin Berlin, Berlin, Germany., Kühnen P; Department of Pediatric Endocrinology and Diabetology, Charité University Hospital, Berlin, Germany.; Berlin Center for Rare Diseases-Charité University Hospital, Berlin, Germany.; Deutsches Zentrum für Kinder- und Jugendgesundheit (DZKJ), partner site Berlin, Berlin, Germany., Mungall CJ; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA., Haendel MA; Department of Genetics, University of North Carolina Chapel Hill, Chapel Hill, NC, USA., Robinson PN; Berlin Institute of Health at Charité‒Universitätsmedizin Berlin, Berlin, Germany.; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA., Thun S; Berlin Institute of Health at Charité‒Universitätsmedizin Berlin, Berlin, Germany., Beyan O; Institute for Biomedical Informatics, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.; Fraunhofer Institute for Applied Information Technology, Sankt Augustin, Germany.
Source: NPJ genomic medicine [NPJ Genom Med] 2025 Nov 18; Vol. 10 (1), pp. 72. Date of Electronic Publication: 2025 Nov 18.
Publication Type: Journal Article
Journal Info: Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: RareLink: scalable REDCap-based framework for rare disease interoperability linking international registries to FHIR and Phenopackets.
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  Data: <searchLink fieldCode="AU" term="%22Graefe+ASL%22">Graefe ASL</searchLink>; Berlin Institute of Health at Charité‒Universitätsmedizin Berlin, Berlin, Germany. adam.graefe@charite.de.; Institute for Biomedical Informatics, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany. adam.graefe@charite.de.<br /><searchLink fieldCode="AU" term="%22Rehburg+F%22">Rehburg F</searchLink>; Berlin Institute of Health at Charité‒Universitätsmedizin Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Alkarkoukly+S%22">Alkarkoukly S</searchLink>; Medical Data Integration Center (MeDIC), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.<br /><searchLink fieldCode="AU" term="%22Danis+D%22">Danis D</searchLink>; Berlin Institute of Health at Charité‒Universitätsmedizin Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Grönke+A%22">Grönke A</searchLink>; Medical Data Integration Center (MeDIC), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.<br /><searchLink fieldCode="AU" term="%22Hübner+MR%22">Hübner MR</searchLink>; Berlin Institute of Health at Charité‒Universitätsmedizin Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Bartschke+A%22">Bartschke A</searchLink>; Berlin Institute of Health at Charité‒Universitätsmedizin Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Debertshäuser+T%22">Debertshäuser T</searchLink>; Berlin Institute of Health at Charité‒Universitätsmedizin Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Klopfenstein+SAI%22">Klopfenstein SAI</searchLink>; Berlin Institute of Health at Charité‒Universitätsmedizin Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Saß+J%22">Saß J</searchLink>; Berlin Institute of Health at Charité‒Universitätsmedizin Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Fleck+J%22">Fleck J</searchLink>; Center for Rare Diseases, Medical Faculty, RWTH Aachen University, Aachen, Germany.<br /><searchLink fieldCode="AU" term="%22Rehberg+M%22">Rehberg M</searchLink>; Department of Pediatrics and Adolescent Medicine, Faculty of Medicine and University Hospital Cologne University of Cologne Cologne Germany, Cologne, Germany.<br /><searchLink fieldCode="AU" term="%22Zschüntzsch+J%22">Zschüntzsch J</searchLink>; Department of Neurology, University Medical Center Goettingen, Goettingen, Germany.<br /><searchLink fieldCode="AU" term="%22Nyoungui+EF%22">Nyoungui EF</searchLink>; Department of Medical Informatics, University Medical Center Goettingen, Goettingen, Germany.<br /><searchLink fieldCode="AU" term="%22Kalashnikova+T%22">Kalashnikova T</searchLink>; Section of Hematology and Immunology, Alberta Children's Hospital, Calgary, Canada.; University of Calgary, Calgary, Canada.<br /><searchLink fieldCode="AU" term="%22Murguía-Favela+L%22">Murguía-Favela L</searchLink>; Section of Hematology and Immunology, Alberta Children's Hospital, Calgary, Canada.; University of Calgary, Calgary, Canada.<br /><searchLink fieldCode="AU" term="%22Derfalvi+B%22">Derfalvi B</searchLink>; Department of Pediatrics, Division of Immunology, Dalhousie University, IWK Health, Halifax, NS, Canada.<br /><searchLink fieldCode="AU" term="%22Wright+NAM%22">Wright NAM</searchLink>; Section of Hematology and Immunology, Alberta Children's Hospital, Calgary, Canada.; University of Calgary, Calgary, Canada.<br /><searchLink fieldCode="AU" term="%22Moosa+S%22">Moosa S</searchLink>; Division of Molecular Biology and Human Genetics, Stellenbosch University, Cape Town, South Africa.; Medical Genetics, Tygerberg Hospital, Cape Town, South Africa.<br /><searchLink fieldCode="AU" term="%22Ogishima+S%22">Ogishima S</searchLink>; INGEM, Tohoku University, Sendai, Miyagi, Japan.; Department of Informatics for Genomic Medicine, ToMMo, Tohoku University, Sendai, Miyagi, Japan.<br /><searchLink fieldCode="AU" term="%22Semler+O%22">Semler O</searchLink>; Department of Pediatrics and Adolescent Medicine, Faculty of Medicine and University Hospital Cologne University of Cologne Cologne Germany, Cologne, Germany.<br /><searchLink fieldCode="AU" term="%22Wiegand+S%22">Wiegand S</searchLink>; Department of Pediatric Endocrinology and Diabetology, Charité University Hospital, Berlin, Germany.; Center for Chronically Sick Children, Charité Universitätsmedizin Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Kühnen+P%22">Kühnen P</searchLink>; Department of Pediatric Endocrinology and Diabetology, Charité University Hospital, Berlin, Germany.; Berlin Center for Rare Diseases-Charité University Hospital, Berlin, Germany.; Deutsches Zentrum für Kinder- und Jugendgesundheit (DZKJ), partner site Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Mungall+CJ%22">Mungall CJ</searchLink>; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA.<br /><searchLink fieldCode="AU" term="%22Haendel+MA%22">Haendel MA</searchLink>; Department of Genetics, University of North Carolina Chapel Hill, Chapel Hill, NC, USA.<br /><searchLink fieldCode="AU" term="%22Robinson+PN%22">Robinson PN</searchLink>; Berlin Institute of Health at Charité‒Universitätsmedizin Berlin, Berlin, Germany.; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.<br /><searchLink fieldCode="AU" term="%22Thun+S%22">Thun S</searchLink>; Berlin Institute of Health at Charité‒Universitätsmedizin Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Beyan+O%22">Beyan O</searchLink>; Institute for Biomedical Informatics, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.; Fraunhofer Institute for Applied Information Technology, Sankt Augustin, Germany.
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  Data: <searchLink fieldCode="JN" term="%22101685193%22">NPJ genomic medicine</searchLink> [NPJ Genom Med] 2025 Nov 18; Vol. 10 (1), pp. 72. <i>Date of Electronic Publication: </i>2025 Nov 18.
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