CORDIS provides links to public deliverables and publications of HORIZON projects.
Links to deliverables and publications from FP7 projects, as well as links to some specific result types such as dataset and software, are dynamically retrieved from OpenAIRE .
Deliverables
Other lead beneficiaries ANR 11 FFRD 12 and ISCIII 44Public Call documents JTC20192022 call text guidelines for applicants proposal templates due at month 35
First Report on processed genome-phenome datasets and multi-omics use cases analysed, including description of new cloud and online analysis functionalities and toolsOther lead beneficiary UMCG (35) First Report on processed genome-phenome datasets and multi-omics use cases analysed, including description of new cloud and online analysis functionalities and tools due at month 12
Third Report on processed genome-phenome datasets and multi-omics use cases analysed, including description of new cloud and online analysis functionalities and toolsOther lead beneficiary UMCG 35Third Report on processed genomephenome datasets and multiomics use cases analysed including description of new cloud and online analysis functionalities and tools due at month 36
First Report on course on interpretation of genetic variants and quality standardsFirst Report on course on interpretation of genetic variants and quality standards due at month 12
Fourth Analysis of national state of play and alignment process with EJP RDOther lead beneficiary MUW 38Analysis of national state of play and alignment process with EJP RD due at month 55
Second Public Call documents JTC2019-2022: call text, guidelines for applicants, proposal templatesOther lead beneficiaries: ANR (11), FFRD (12) and ISCIII (44) Public Call documents JTC2019-2022: call text, guidelines for applicants, proposal templates due at month 11
First Report on ExPRESSFirst Report on ExPRESS EURORDIS Summer School due at month 12
Fifth report from the face-to-face ExCom and Policy Board meetingReport from the facetoface ExCom and Policy Board meeting due at month 55
Public Call document for Networking schemeOther lead beneficiary: CSO/MOH (78) Public Call document for Networking scheme
First Report on International course on undiagnosed diseasesFirst Report on International course on undiagnosed diseases due at month 24
Final list of prioritization criteriaOther lead beneficiary FTELE 25Final list of prioritization criteria
Second List of research and innovation needs requiring medium- or long-term approach and related Task ForcesList of research and innovation needs requiring medium- or long-term approach and related Task Forces due at month 18
Second Report on processed genome-phenome datasets and multi-omics use cases analysed, including description of new cloud and online analysis functionalities and toolsOther lead beneficiary UMCG (35) Second Report on processed genome-phenome datasets and multi-omics use cases analysed, including description of new cloud and online analysis functionalities and tools due at month 24
Third report from the face-to-face ExCom and Policy Board meetingReport from the face-to-face ExCom and Policy Board meeting due at Month 31
Second List of funded networks in Networking schemeList of funded networks in Networking scheme due at month 54
Fourth Annual strategic report and Action plan for Pillar 2, including: Systematic surveys reports, QMS of Pillar 2 description, GDPR compliance report and sustainability planning reportingAnnual strategic report and Action plan for Pillar 2 including Systematic surveys reports QMS of Pillar 2 description GDPR compliance report and sustainability planning reporting update at month 45
Second Report on training of patient representatives on scientific innovation and translational research in RDSecond Report on training of patient representatives on scientific innovation and translational research in RD due at month 60
Second Report on ExPRESSSecond Report on ExPRESS EURORDIS Summer School due at month 60
Collection of 20 curated (sub)Portal on WikiPathwaysCollection of 20 curated subPortal on WikiPathways
Third List of research and innovation needs requiring medium- or long-term approach and related Task ForcesList of research and innovation needs requiring medium or longterm approach and related Task Forces due at month 30
Report on core set of unified FAIR data standardsReport from the Kick-off meeting
Dynamic catalogue of EJP-RD sustainable resources including Service Roadmap Database
Dynamic catalogue of EJPRD sustainable resources including Service Roadmap Database Lead beneficiary INSERM RADICO
First RE(ACT) Congress reportFirst RE(ACT) Congress report due at M16
Second Annual reports on implementation of training programsSecond Annual reports on implementation of training programs due at month 60
List of first phase projects financedFirst List of research and innovation needs requiring medium- or long-term approach and related Task Forces
List of research and innovation needs requiring medium or longterm approach and related Task Forces due at month 6
Fourth Scoping paperOther lead beneficiaries ISCIII 44 and INSERM 1Scoping paper due at month 43
Draft content of the online academic courseSet of template agreements for EJP RD website
Second Report on EURORDIS' Leadership Programme
Second Report on EURORDIS’ Leadership Programme due at month 48
Third Analysis of national state of play and alignment process with EJP RDOther lead beneficiary MUW 38Analysis of national state of play and alignment process with EJP RD due at month 32
Third Public Call documents JTC2019-2022: call text, guidelines for applicants, proposal templatesOther lead beneficiaries: ANR (11), FFRD (12) and ISCIII (44) Public Call documents JTC2019-2022: call text, guidelines for applicants, proposal templates due at mont 23
Training plan for paediatric patients' in the EJPOther beneficiary FSJDTraining plan for paediatric patients in the EJP
First Report on sample data management training workshopsFirst Report on sample data management training workshops due at month 12
EJP RD ERN training programmesFirst Public Call documents JTC2019-2022: call text, guidelines for applicants, proposal templates
Other lead beneficiaries: ANR (11), FFRD (12) and ISCIII (44) Public Call documents JTC2019-2022: call text, guidelines for applicants, proposal templates due at month 1
Call documents for validationSecond Analysis of national state of play and alignment process with EJP RD
Other lead beneficiary MUW (38) Analysis of national state of play and alignment process with EJP RD due at month 21
First Scoping paperOther lead beneficiaries: ISCIII (44) and INSERM (1) Scoping paper due at Month 7
Fourth Report on processed genome-phenome datasets and multi-omics use cases analysed, including description of new cloud and online analysis functionalities and toolsOther lead beneficiary UMCG 35Fourth Report on processed genomephenome datasets and multiomics use cases analysed including description of new cloud and online analysis functionalities and tools due at month 48
Second Annual strategic report and Action plan for Pillar 2, including: Systematic surveys reports, QMS of Pillar 2 description, GDPR compliance report and sustainability planning reportingAnnual strategic report and Action plan for Pillar 2, including: Systematic surveys reports, QMS of Pillar 2 description, GDPR compliance report and sustainability planning reporting update at month 21
Completed pathway analysis workflow (data analysis including both types of genetic variant linking and network creation)Completed pathway analysis workflow data analysis including both types of genetic variant linking and network creation
Fourth report from the face-to-face ExCom and Policy Board meetingReport from the facetoface ExCom and Policy Board meeting due at Month 43
Results of survey on preferences, needs and resources from the ERNs ecosystemReport on paediatric patients' experts training courses
Other beneficiary: FSJDReport on paediatric patients’ experts training courses
First Report on core set of FAIR software tools and on extended set of unified FAIR data standards, applied in EJP RDFirst Report on core set of FAIR software tools and on extended set of unified FAIR data standards applied in EJP RD due at month 30
Second Report on sample data management training workshopsSecond Report on sample data management training workshops due at month 60
First Report of Orphanet nomenclature training for trainers and national trainingsFirst Report of Orphanet nomenclature training for trainers and national trainings due at month 14
First Report from strategic workshop with national policy makersOther lead beneficiary MUW 38Report from strategic workshop with national policy makers due at month 34
Third Annual strategic report and Action plan for Pillar 2, including: Systematic surveys reports, QMS of Pillar 2 description, GDPR compliance report and sustainability planning reportingAnnual strategic report and Action plan for Pillar 2 including Systematic surveys reports QMS of Pillar 2 description GDPR compliance report and sustainability planning reporting update at month 33
Prioritization scheme including decision-making processOther lead beneficiary FTELE 25Prioritization scheme including decisionmaking process
Second RE(ACT) Congress reportSecond REACT Congress report due at Month 30
Report on the State of the Art of existing resourcesFirst List of funded networks in Networking scheme
List of funded networks in Networking scheme due at month 21
First Analysis of national state of play and alignment process with EJP RDOther lead beneficiary MUW (38) Analysis of national state of play and alignment process with EJP RD due at Month 9
First Report on International course on Rare Disease Registries and FAIRification of data at sourceFirst Report on International course on Rare Disease Registries and FAIRification of data at source due at month 12
Second Report of Orphanet nomenclature training for trainers and national trainingsSecond Report of Orphanet nomenclature training for trainers and national trainings due at month 60
Fifth Scoping paperOther lead beneficiaries ISCIII (44) and INSERM (1)Scoping paper due at month 55
Second Scoping paperOther lead beneficiaries ISCIII (44) and INSERM (1) Scoping paper due at month 19
Second Report on course on interpretation of genetic variants and quality standardsSecond Report on course on interpretation of genetic variants and quality standards due at month 60
Second Report on International course on Rare Disease Registries and FAIRification of data at sourceSecond Report on International course on Rare Disease Registries and FAIRification of data at source due at month 60
First Annual strategic report and Action plan for Pillar 2, including: Systematic surveys reports, QMS of Pillar 2 description, GDPR compliance report and sustainability planning reportingAnnual strategic report and Action plan for Pillar 2, including: Systematic surveys reports, QMS of Pillar 2 description, GDPR compliance report and sustainability planning reporting due at M9
First Annual report on implementation of training programsFirst Annual reports on implementation of training programs due at month 13
Second Report from strategic workshop with national policy makersOther lead beneficiary MUW 38Report from strategic workshop with national policy makers due at month 58
Second Report on core set of FAIR software tools and on extended set of unified FAIR data standards, applied in EJP RDSecond Report on core set of FAIR software tools and on extended set of unified FAIR data standards applied in EJP RD due at month 48
Third Scoping paperOther lead beneficiaries ISCIII (44) and INSERM (1) Scoping paper due at month 31
Completed network analysis workflow (active node detection, lifestyle factor network evaluation and extended network analysis for drugs and toxic compounds)Completed network analysis workflow active node detection lifestyle factor network evaluation and extended network analysis for drugs and toxic compounds
Fourth List of research and innovation needs requiring medium- or long-term approach and related Task ForcesList of research and innovation needs requiring medium or longterm approach and related Task Forces due at month 42
First report from the face-to-face ExCom and Policy Board meetingReport from the face-to-face ExCom and Policy Board meeting due at M7
First Report on EURORDIS’ Leadership ProgrammeFirst Report on EURORDIS’ Leadership Programme due at month 12
Final Report of funded demonstration projectsOther lead beneficiaries: AP-HP (54), IOR (61) and ERN EpiCAREFinal Report of funded demonstration projects
First Report on training of patient representatives on scientific innovation and translational research in RDFirst Report on training of patient representatives on scientific innovation and translational research in RD due at month 24
Second report from the face-to-face ExCom and Policy Board meetingReport from the face-to-face ExCom and Policy Board meeting due at M19
Third update of the Virtual platform of RD resources annotated with EJP ontological model due at month 48
Second update Virtual platform of RD resources annotated with EJP ontological modelSecond update of the Virtual platform of RD resources annotated with EJP ontological model due at month 36
EJP RD websiteEJP RD Newsletter
Virtual platform of RD resources annotated with EJP ontological model
First version of the Virtual platform of RD resources annotated with EJP ontological model due at month 12
First update Virtual platform of RD resources annotated with EJP ontological modelFirst update of the Virtual platform of RD resources annotated with EJP ontological model due at month 24
Other lead beneficiary: ELIXIR (76)Fourth version of the Additional facilities integrated to resources regarding data deposition and access, including user guidelines and documentation due at month 48
First Ontological model of resources metadataFirst Ontological model of resources metadata due at mont 12
First version of Additional facilities integrated to resources regarding data deposition and access, including user guidelines and documentationOther lead beneficiary ELIXIR (76) First version of Additional facilities integrated to resources regarding data deposition and access, including user guidelines and documentation due at month 12
Fifth version Additional facilities integrated to resources regarding data deposition and access, including user guidelines and documentationOther lead beneficiary: ELIXIR (76)Fifth version of the Additional facilities integrated to resources regarding data deposition and access, including user guidelines and documentation due at month 60
Third version Additional facilities integrated to resources regarding data deposition and access, including user guidelines and documentationOther lead beneficiary ELIXIR 76Third version of Additional facilities integrated to resources regarding data deposition and access including user guidelines and documentation due at month 36
Content of the first 5 online modulesContent of the full online course
Fifth Ontological model of resources metadata
Fifth Ontological model of resources metadata due at month 60
Second version Additional facilities integrated to resources regarding data deposition and access, including user guidelines and documentationOther lead beneficiary: ELIXIR (76) Second version of Additional facilities integrated to resources regarding data deposition and access, including user guidelines and documentation due at month 24
Fourth Ontological model of resources metadataFourth Ontological model of resources metadata due at month 48
Second Ontological model of resources metadataSecond Ontological model of resources metadata due at month 24
Third Ontological model of resources metadataThird Ontological model of resources metadata due at month 36
Publications
Author(s):
Alessandra Scaravilli, Mario Tranfa, Giuseppe Pontillo, Bernard Brais, Giovanna De Michele, Roberta La Piana, Francesco Saccà, Filippo Maria Santorelli, Matthis Synofzik, Arturo Brunetti, Sirio Cocozza
Published in:
The Cerebellum, 2024, ISSN 1473-4230
Publisher:
Springer Nature
DOI:
10.1007/s12311-024-01677-y
Author(s):
Maria del Carmen Sanchez Gonzalez, Pim Kamerling, Mariapia Iermito, Sara Casati, Umar Riaz, Colin D. Veal, Monika Maini, Francis Jeanson, Oussama Mohammed Benhamed, Esther van Enckevort, Annalisa Landi, Yanis Mimouni, Clèmence Le Cornec, Domenico A. Coviello, Tiziana Franchin, Francesca Fusco, Jose Antonio Ramírez García, Loes F. M. van der Zanden, Alexander Bernier, Mark D. Wilkinson, Heimo Mu
Published in:
Scientific Data, Issue 11, 2024, ISSN 2052-4463
Publisher:
Springer Nature
DOI:
10.1038/s41597-024-03279-z
Author(s):
Tiago Prince Sales, Pedro Paulo F. Barcelos, Claudenir M. Fonseca, Isadora Valle Souza, Elena Romanenko, César Henrique Bernabé, Luiz Olavo Bonino da Silva Santos, Mattia Fumagalli, Joshua Kritz, João Paulo A. Almeida, Giancarlo Guizzardi
Published in:
Data & Knowledge Engineering, Issue 147, 2023, Page(s) 102210, ISSN 0169-023X
Publisher:
Elsevier BV
DOI:
10.1016/j.datak.2023.102210
Author(s):
Arman Çakar; Gulandam Bagırova; Hacer Durmuş; Oya Uyguner; Yeşim Parman
Published in:
Journal of the peripheral nervous system., 2023, ISSN 1529-8027
Publisher:
-
DOI:
10.1111/jns.12581
Author(s):
Ivana Dzinovic, Matej Škorvánek, Petra Pavelekova, Chen Zhao, Boris Keren, Sandra Whalen, Somayeh Bakhtiari, Sheng Chih Jin, Michael C. Kruer, Robert Jech, Juliane Winkelmann, Michael Zech
Published in:
Annals of Clinical and Translational Neurology, 2021, ISSN 2328-9503
Publisher:
Wiley
DOI:
10.1002/acn3.51335
Author(s):
Ingrid D.C. van Balkom, Monica Burdeus-Olavarrieta, Jennifer Cooke, A. Graciela de Cuba, Alison Turner, Annick Vogels, Anna Maruani
Published in:
European Journal of Medical Genetics, Issue 66, 2024, Page(s) 104770, ISSN 1769-7212
Publisher:
Elsevier BV
DOI:
10.1016/j.ejmg.2023.104770
Author(s):
Rima Nabbout, Ralf-Dieter Hilgers
Published in:
Orphanet Journal of Rare Diseases, Issue 19, 2024, ISSN 1750-1172
Publisher:
BioMed Central
DOI:
10.1186/s13023-024-03189-8
Author(s):
Imke M.E. Schuurmans, Ka M. Wu, Clara D.M. van Karnebeek, Nael Nadif Kasri, Alejandro Garanto
Published in:
Stem Cell Research, Issue 71, 2024, Page(s) 103173, ISSN 1873-5061
Publisher:
Elsevier
DOI:
10.1016/j.scr.2023.103173
Author(s):
Matti Koenig, William B. Dobyns, Nataliya Di Donato
Published in:
European Journal of Paediatric Neurology, Issue 35, 2022, Page(s) 147-152, ISSN 1090-3798
Publisher:
W. B. Saunders Co., Ltd.
DOI:
10.1016/j.ejpn.2021.09.013
Author(s):
Denise N. Slenter, Irene M. G. M. Hemel, Chris T. Evelo, Jörgen Bierau, Egon L. Willighagen, Laura K. M. Steinbusch
Published in:
Orphanet Journal of Rare Diseases, Issue 18, 2023, ISSN 1750-1172
Publisher:
BioMed Central
DOI:
10.1186/s13023-023-02683-9
Author(s):
Peter W Harrison, M Ridwan Amode, Olanrewaju Austine-Orimoloye, Andrey G Azov, Matthieu Barba, If Barnes, Arne Becker, Ruth Bennett, Andrew Berry, Jyothish Bhai, Simarpreet Kaur Bhurji, Sanjay Boddu, Paulo R Branco Lins, Lucy Brooks, Shashank Budhanuru Ramaraju, Lahcen I Campbell, Manuel Carbajo Martinez, Mehrnaz Charkhchi, Kapeel Chougule, Alexander Cockburn, Claire Davidson, Nishadi H De S
Published in:
Nucleic Acids Research, Issue 52, 2024, Page(s) D891-D899, ISSN 0305-1048
Publisher:
Oxford University Press
DOI:
10.1093/nar/gkad1049
Author(s):
Alberto Corvò, Leslie Matalonga, Dylan Spalding, Alexander Senf, Steven Laurie, Daniel Picó-Amador, Marcos Fernandez-Callejo, Ida Paramonov, Anna Foix Romero, Emilio Garcia-Rios, Jorge Izquierdo Ciges, Anand Mohan, Coline Thomas, Andres Felipe Silva Valencia, Csaba Halmagyi, Mallory Ann Freeberg, Ana Töpf, Rita Horvath, Gary Saunders, Ivo Gut, Thomas Keane, Davide Piscia, Sergi Beltran
Published in:
Cell Genomics, Issue 3, 2023, Page(s) 100246, ISSN 2666-979X
Publisher:
Elsevier Inc.
DOI:
10.1016/j.xgen.2022.100246
Author(s):
Elisabetta Indelicato, Luigi Michele Romito, Philip Harrer, Nico Golfrè Andreasi, Isabel Colangelo, Robert Kopajtich, Juliane Winkelmann, Holger Prokisch, Barbara Garavaglia, Michael Zech
Published in:
Movement Disorders, Issue 39, 2024, Page(s) 1237-1238, ISSN 0885-3185
Publisher:
John Wiley & Sons Inc.
DOI:
10.1002/mds.29797
Author(s):
Gijs A. C. Franken, Dominik Müller, Cyril Mignot, Boris Keren, Jonathan Lévy, Anne‐Claude Tabet, David Germanaud, María‐Isabel Tejada, Hester Y. Kroes, Rutger A. J. Nievelstein, Elise Brimble, Maria Ruzhnikov, Felix Claverie‐Martin, Maria Szczepańska, Martin Ćuk, Femke Latta, Martin Konrad, Luis A. Martínez‐Cruz, René J. M. Bindels, Joost G. J. Hoenderop, Karl‐Peter Schlingmann, J
Published in:
Human Mutation, 2021, ISSN 1059-7794
Publisher:
John Wiley & Sons Inc.
DOI:
10.1002/humu.24182
Author(s):
Michael Schön, Pablo Lapunzina, Julián Nevado, Teresa Mattina, Cecilia Gunnarsson, Kinga Hadzsiev, Chiara Verpelli, Thomas Bourgeron, Sarah Jesse, Conny M.A. van Ravenswaaij-Arts, Raoul C. Hennekam
Published in:
European Journal of Medical Genetics, Issue 66, 2023, Page(s) 104754, ISSN 1769-7212
Publisher:
Elsevier BV
DOI:
10.1016/j.ejmg.2023.104754
Author(s):
Mark D. Wilkinson, Michel Dumontier, Susanna-Assunta Sansone, Luiz Olavo Bonino da Silva Santos, Mario Prieto, Dominique Batista, Peter McQuilton, Tobias Kuhn, Philippe Rocca-Serra, Mercѐ Crosas, Erik Schultes
Published in:
Scientific Data, Issue 6/1, 2019, ISSN 2052-4463
Publisher:
Nature
DOI:
10.1038/s41597-019-0184-5
Author(s):
Rabia Basharat, Kim Rodenburg, María Rodríguez-Hidalgo, Afeefa Jarral, Ehsan Ullah, Jordi Corominas, Christian Gilissen, Syeda Tatheer Zehra, Usman Hameed, Muhammad Ansar, Suzanne E. de Bruijn
Published in:
Genes, Issue 14, 2023, Page(s) 1573, ISSN 2073-4425
Publisher:
Multidisciplinary Digital Publishing Institute (MDPI)
DOI:
10.3390/genes14081573
Author(s):
Kevin L Howe, Premanand Achuthan, James Allen, Jamie Allen, Jorge Alvarez-Jarreta, M Ridwan Amode, Irina M Armean, Andrey G Azov, Ruth Bennett, Jyothish Bhai, Konstantinos Billis, Sanjay Boddu, Mehrnaz Charkhchi, Carla Cummins, Luca Da Rin Fioretto, Claire Davidson, Kamalkumar Dodiya, Bilal El Houdaigui, Reham Fatima, Astrid Gall, Carlos Garcia Giron, Tiago Grego, Cristina Guijarro-Clarke, Lea
Published in:
Nucleic Acids Research, Issue 49/D1, 2020, Page(s) D884-D891, ISSN 0305-1048
Publisher:
Oxford University Press
DOI:
10.1093/nar/gkaa942
Author(s):
Fiona Cunningham, James E Allen, Jamie Allen, Jorge Alvarez-Jarreta, M Ridwan Amode, Irina M Armean, Olanrewaju Austine-Orimoloye, Andrey G Azov, If Barnes, Ruth Bennett, Andrew Berry, Jyothish Bhai, Alexandra Bignell, Konstantinos Billis, Sanjay Boddu, Lucy Brooks, Mehrnaz Charkhchi, Carla Cummins, Luca Da Rin Fioretto, Claire Davidson, Kamalkumar Dodiya, Sarah Donaldson, Bilal El Houdaigui
Published in:
Nucleic Acids Research, Issue 50, 2023, Page(s) D988-D995, ISSN 0305-1048
Publisher:
Oxford University Press
DOI:
10.1093/nar/gkab1049
Author(s):
Martin Geroldinger, Johan Verbeeck, Konstantin E. Thiel, Geert Molenberghs, Arne C. Bathke, Martin Laimer, Georg Zimmermann
Published in:
Biometrical Journal, Issue 66, 2024, ISSN 0323-3847
Publisher:
John Wiley & Sons Ltd.
DOI:
10.1002/bimj.202200236
Author(s):
Galliano Zanello, Diego Ardigò, Florence Guillot, Anneliene H. Jonker, Oxana Iliach, Hervé Nabarette, Daniel O’Connor, Virginie Hivert
Published in:
Rare Disease and Orphan Drugs Journal, Issue 2, 2024, Page(s) 9, ISSN 2771-2893
Publisher:
OAE Publishing Inc.
DOI:
10.20517/rdodj.2023.04
Author(s):
Caroline Merckx, Jana Zschüntzsch, Stefanie Meyer, Robrecht Raedt, Hanne Verschuere, Jens Schmidt, Boel De Paepe, Jan L. De Bleecker
Published in:
International Journal of Molecular Sciences, Issue 23, 2024, Page(s) 9567, ISSN 1422-0067
Publisher:
Multidisciplinary Digital Publishing Institute (MDPI)
DOI:
10.3390/ijms23179567
Author(s):
Carlo Wilke, David Mengel, Ludger Schöls, Holger Hengel, Maria Rakowicz, Thomas Klockgether, Alexandra Durr, Alessandro Filla, Bela Melegh, Rebecca Schüle, Kathrin Reetz, Heike Jacobi, Matthis Synofzik
Published in:
Neurology, Issue 98, 2024, ISSN 0028-3878
Publisher:
Lippincott Williams & Wilkins Ltd.
DOI:
10.1212/wnl.0000000000200257
Author(s):
Hassanin, Emadeldin; Spier, Isabel; Bobbili, Dheeraj R.; Aldisi, Rana; Klinkhammer, Hannah; David, Friederike; Dueñas, Nuria; Hüneburg, Robert; Perne, Claudia; Brunet, Joan; Capella, Gabriel; Nöthen, Markus M.; Forstner, Andreas J.; Mayr, Andreas; Krawitz, Peter; May, Patrick; Aretz, Stefan; Maj, Carlo
Published in:
BMC Medical Genomics, Issue 1, 2023, ISSN 1755-8794
Publisher:
BioMed Central
DOI:
10.6084/m9.figshare.22620470.v1
Author(s):
Groenen, Karlijn H. J.; Jacobsen, Annika; Kersloot, Martijn G.; dos Santos Vieira, Bruna; van Enckevort, Esther; Kaliyaperumal, Rajaram; Arts, Derk L.; ‘t Hoen, Peter A. C.; Cornet, Ronald; Roos, Marco; Kool, Leo Schultze
Published in:
Orphanet Journal of Rare Diseases, Issue 1, 2021, ISSN 1750-1172
Publisher:
BioMed Central
DOI:
10.6084/m9.figshare.16570885
Author(s):
P. Laššuthová, R. Mazanec, D. Staněk, L. Sedláčková, B. Plevová, J. Haberlová, P. Seeman
Published in:
Scientific Reports, Issue 11, 2022, ISSN 2045-2322
Publisher:
Nature Publishing Group
DOI:
10.1038/s41598-021-86857-0
Author(s):
Ilaria Rosso, Fabrizio d’Adda di Fagagna
Published in:
International Journal of Molecular Sciences, Issue 21/24, 2020, Page(s) 9774, ISSN 1422-0067
Publisher:
Multidisciplinary Digital Publishing Institute (MDPI)
DOI:
10.3390/ijms21249774
Author(s):
Jumamurat R. Bayjanov, Cenna Doornbos, Ozan Ozisik, Woosub Shin, Núria Queralt-Rosinach, Daphne Wijnbergen, Jean-Sébastien Saulnier-Blache, Joost P. Schanstra, Bénédicte Buffin-Meyer, Julie Klein, José M. Fernández, Rajaram Kaliyaperumal, Anaïs Baudot, Peter A. C. ’t Hoen, Friederike Ehrhart
Published in:
Scientific Reports, Issue 14, 2024, ISSN 2045-2322
Publisher:
Nature Publishing Group
DOI:
10.1038/s41598-024-71721-8
Author(s):
Ozan Ozisik, Morgane Térézol, Anaı̈s Baudot
Published in:
BMC Bioinformatics, Issue 23(1), 2022, Page(s) 293, ISSN 1471-2105
Publisher:
BioMed Central
DOI:
10.1186/s12859-022-04828-2
Author(s):
Bruna dos Santos Vieira, César H. Bernabé, Shuxin Zhang, Haitham Abaza, Nirupama Benis, Alberto Cámara, Ronald Cornet, Clémence M. A. Le Cornec, Peter A. C. ’t Hoen, Franz Schaefer, K. Joeri van der Velde, Morris A. Swertz, Mark D. Wilkinson, Annika Jacobsen & Marco Roos
Published in:
Orphanet Journal of Rare Diseases, 2022, ISSN 1750-1172
Publisher:
BioMed Central
DOI:
10.1186/s13023-022-02558-5
Author(s):
Shuxin Zhang, Nirupama Benis, Ronald Cornet
Published in:
Journal of Biomedical Semantics, Issue 14, 2023, ISSN 2041-1480
Publisher:
BioMed Central
DOI:
10.1186/s13326-023-00299-3
Author(s):
César H. Bernabé, Lieze Thielemans, Rajaram Kaliyaperumal, Claudio Carta, Shuxin Zhang, Celia W.G. van Gelder, Nirupama Benis, Luiz Olavo Bonino da Silva Santos, Ronald Cornet, Bruna dos Santos Vieira, Nawel Lalout, Ines Henriques, Alberto Cámara Ballesteros, Kees Burger, Martijn G. Kersloot, Friederike Ehrhart, Esther van Enckevort, Chris T. Evelo, Alasdair J. G. Gray, Marc Hanauer, Kristina H
Published in:
Data Intelligence, Issue 6, 2024, Page(s) 429-456, ISSN 2641-435X
Publisher:
The MIT Press
DOI:
10.1162/dint_a_00236
Author(s):
Yaffa R Rubinstein, Peter N Robinson, William A Gahl, Paul Avillach, Gareth Baynam, Helene Cederroth, Rebecca M Goodwin, Stephen C Groft, Mats G Hansson, Nomi L Harris, Vojtech Huser, Deborah Mascalzoni, Julie A McMurry, Matthew Might, Christoffer Nellaker, Barend Mons, Dina N Paltoo, Jonathan Pevsner, Manuel Posada, Alison P Rockett-Frase, Marco Roos, Tamar B Rubinstein, Domenica Taruscio, Esther
Published in:
JAMIA Open, Issue 3/3, 2020, Page(s) 472-486, ISSN 2574-2531
Publisher:
Oxford Academic
DOI:
10.1093/jamiaopen/ooaa030
Author(s):
Elisabetta Indelicato, Sylvia Boesch, Niccolo' E. Mencacci, Daniele Ghezzi, Holger Prokisch, Juliane Winkelmann, Michael Zech
Published in:
Movement Disorders, Issue 39, 2024, Page(s) 29-35, ISSN 0885-3185
Publisher:
John Wiley & Sons Inc.
DOI:
10.1002/mds.29657
Author(s):
Casper de Visser, Lennart F. Johansson, Purva Kulkarni, Hailiang Mei, Pieter Neerincx, K. Joeri van der Velde, Péter Horvatovich, Alain J. van Gool, Morris A. Swertz, Peter A. C. ‘t Hoen, Anna Niehues
Published in:
PLOS Computational Biology, Issue 19, 2023, Page(s) e1011369, ISSN 1553-7358
Publisher:
San Francisco, CA Public Library of Science
DOI:
10.1371/journal.pcbi.1011369
Author(s):
Elisabetta Indelicato, Sylvia Boesch, Michael Zech
Published in:
Movement Disorders, Issue 39, 2024, Page(s) 631-632, ISSN 0885-3185
Publisher:
John Wiley & Sons Inc.
DOI:
10.1002/mds.29727
Author(s):
Paulina Cunha, Emilien Petit, Marie Coutelier, Giulia Coarelli, Caterina Mariotti, Jennifer Faber, Judith Van Gaalen, Joana Damasio, Zofia Fleszar, Michele Tosi, Clarissa Rocca, Giovanna De Michele, Martina Minnerop, Claire Ewenczyk, Filippo M. Santorelli, Anna Heinzmann, Thomas Bird, Matthias Amprosi, Elisabetta Indelicato, Alberto Benussi, Perrine Charles, Claudia Stendel, Silvia Romano, Marina
Published in:
The American Journal of Human Genetics, Issue 110, 2024, Page(s) 1098-1109, ISSN 0002-9297
Publisher:
University of Chicago Press
DOI:
10.1016/j.ajhg.2023.05.009
Author(s):
Martin FJ et al
Published in:
Nucleic Acids Research, 2022, ISSN 0305-1048
Publisher:
Oxford University Press
DOI:
10.1093/nar/gkac958
Author(s):
Jane Murphy, Claire W. Kirk, Deborah M. Lambert, Catherine McGorrian, Roddy Walsh, Terri P. McVeigh, Terence Prendiville, Deirdre Ward, Joseph Galvin, Sally Ann Lynch
Published in:
Irish Journal of Medical Science (1971 -), Issue 193, 2024, Page(s) 1775-1785, ISSN 0021-1265
Publisher:
Royal Academy of Medicine in Ireland
DOI:
10.1007/s11845-024-03650-4
Author(s):
Claudia Fuchs, Peter A. C. ‘t Hoen, Annelieke R. Müller, Friederike Ehrhart, Clara D. M. Van Karnebeek
Published in:
Frontiers in Medicine, Issue 11, 2024, ISSN 2296-858X
Publisher:
Frontiers
DOI:
10.3389/fmed.2024.1425038
Author(s):
Galliano Zanello; Chun-Hung Chan; David A. Pearce; IRDiRC Working Group
Published in:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022), Issue 1, 2022, ISSN 1750-1172
Publisher:
BioMed Central
DOI:
10.1186/s13023-022-02337-2
Author(s):
Rima Nabbout, Galliano Zanello, Dixie Baker, Lora Black, Isabella Brambilla, Orion J. Buske, Laurie S. Conklin, Elin Haf Davies, Daria Julkowska, Yeonju Kim, Thomas Klopstock, Harumasa Nakamura, Kim G. Nielsen, Anne R. Pariser, Jose Carlos Pastor, Maurizio Scarpa, Maureen Smith, Domenica Taruscio, Stephen Groft
Published in:
Orphanet Journal of Rare Diseases, Issue 18, 2023, ISSN 1750-1172
Publisher:
BioMed Central
DOI:
10.1186/s13023-023-02650-4
Author(s):
Sylvia A. Koza, Anne C. Tabet, Maria C. Bonaglia, Stephanie Andres, Britt-Marie. Anderlid, Emmelien Aten, Dominique Stiefsohn, D. Gareth Evans, Conny M.A. van Ravenswaaij-Arts, Sarina G. Kant
Published in:
European Journal of Medical Genetics, Issue 66, 2023, Page(s) 104773, ISSN 1769-7212
Publisher:
Elsevier BV
DOI:
10.1016/j.ejmg.2023.104773
Author(s):
Lisa Rauschenberger, Jennifer Behnke, Alexander Grotemeyer, Susanne Knorr, Jens Volkmann, Chi Wang Ip
Published in:
Neurobiology of Disease, Issue 171, 2024, Page(s) 105798, ISSN 0969-9961
Publisher:
Academic Press
DOI:
10.1016/j.nbd.2022.105798
Author(s):
Ibraheem Al-Dhamari, Hammam Abu Attieh, Fabian Prasser
Published in:
Orphanet Journal of Rare Diseases, Issue 19, 2024, ISSN 1750-1172
Publisher:
BioMed Central
DOI:
10.1186/s13023-024-03254-2
Author(s):
Yanis Mimouni, Juliane Halftermeyer, Yanna Petton, Pauline Adam, Clément Moreau, Ana Rath, Roseline Favresse, Birute Tumiene, Daria Julkowska
Published in:
Rare Disease and Orphan Drugs Journal, Issue 3, 2024, ISSN 2771-2893
Publisher:
OAE Publishing Inc
DOI:
10.20517/rdodj.2024.06
Author(s):
Robert Peach, Maximilian Friedrich, Lara Fronemann, Muthuraman Muthuraman, Sebastian R. Schreglmann, Daniel Zeller, Christoph Schrader, Joachim K. Krauss, Alfons Schnitzler, Matthias Wittstock, Ann-Kristin Helmers, Steffen Paschen, Andrea Kühn, Inger Marie Skogseid, Wilhelm Eisner, Joerg Mueller, Cordula Matthies, Martin Reich, Jens Volkmann, Chi Wang Ip
Published in:
npj Digital Medicine, Issue 7, 2024, ISSN 2398-6352
Publisher:
Springer Nature
DOI:
10.1038/s41746-024-01140-6
Author(s):
César H. Bernabé; Núria Queralt-Rosinach; Vítor E. Silva Souza; Luiz Olavo Bonino da Silva Santos; Barend Mons; Annika Jacobsen; Marco Roos
Published in:
Journal of Biomedical Semantics, Vol 14, Iss 1, Pp 1-14 (2023), Issue 8, 2023, ISSN 2041-1480
Publisher:
Biomed Central
DOI:
10.1186/s13326-023-00300-z
Author(s):
Libor Pastika, Arunashis Sau, Konstantinos Patlatzoglou, Ewa Sieliwonczyk, Antônio H. Ribeiro, Kathryn A. McGurk, Sadia Khan, Danilo Mandic, William R. Scott, James S. Ware, Nicholas S. Peters, Antonio Luiz P. Ribeiro, Daniel B. Kramer, Jonathan W. Waks, Fu Siong Ng
Published in:
npj Digital Medicine, Issue 7, 2024, ISSN 2398-6352
Publisher:
Nature
DOI:
10.1038/s41746-024-01170-0
Author(s):
Ousamma Mohammed Benhamed1, Kees Burger2, Rajaram Kaliyaperumal2, Luiz Olavo Bonino da Silva Santos2,3, Marek Suchánek4, Jan Slifka4, Mark D Wilkinson1*
Published in:
Data Intelligence, 2022, ISSN 2641-435X
Publisher:
MIT Press
DOI:
10.1162/dint_a_00161
Author(s):
Theresa Brunet, Robert Jech, Melanie Brugger, Reka Kovacs, Bader Alhaddad, Gloria Leszinski, Korbinian M. Riedhammer, Dominik S. Westphal, Isabella Mahle, Katharina Mayerhanser, Matej Skorvanek, Sandrina Weber, Elisabeth Graf, Riccardo Berutti, Ján Necpál, Petra Havránková, Petra Pavelekova, Maja Hempel, Urania Kotzaeridou, Georg F. Hoffmann, Steffen Leiz, Christine Makowski, Timo Roser, Sebas
Published in:
Clinical Genetics, 2021, ISSN 0009-9163
Publisher:
Blackwell Publishing Inc.
DOI:
10.1111/cge.13946
Author(s):
Emadeldin Hassanin; Isabel Spier; Dheeraj R. Bobbili; Rana Aldisi; Hannah Klinkhammer; Friederike David; Nuria Dueñas; Robert Hüneburg; Claudia Perne; Joan Brunet; Gabriel Capella; Markus M. Nöthen; Andreas J. Forstner; Andreas Mayr; Peter Krawitz; Patrick May; Stefan Aretz; Carlo Maj
Published in:
BMC Medical Genomics, 2023, ISSN 1755-8794
Publisher:
BioMed Central
DOI:
10.1101/2022.01.20.22269585
Author(s):
Marvin Martens, Ammar Ammar, Anders Riutta, Andra Waagmeester, Denise N Slenter, Kristina Hanspers, Ryan A. Miller, Daniela Digles, Elisson N Lopes, Friederike Ehrhart, Lauren J Dupuis, Laurent A Winckers, Susan L Coort, Egon L Willighagen, Chris T Evelo, Alexander R Pico, Martina Kutmon
Published in:
Nucleic Acids Research, Issue 49/D1, 2020, Page(s) D613-D621, ISSN 0305-1048
Publisher:
Oxford University Press
DOI:
10.1093/nar/gkaa1024
Author(s):
Woosub Shin, Martina Kutmon, Eleni Mina, Therese van Amelsvoort, Chris T Evelo, Friederike Ehrhart
Published in:
Orphanet Journal of Rare Diseases, Issue 18, 2023, ISSN 1750-1172
Publisher:
BioMed Central
DOI:
10.1186/s13023-023-02953-6
Author(s):
Simon Loose, Annette Lischka, Samuel Kuehs, Carla Nau, Stefan H. Heinemann, Ingo Kurth, Enrico Leipold
Published in:
Pflügers Archiv - European Journal of Physiology, Issue 475, 2023, Page(s) 1343-1355, ISSN 0031-6768
Publisher:
Springer Verlag
DOI:
10.1007/s00424-023-02856-2
Author(s):
Caroline Merckx, Gwenny Cosemans, Jana Zschüntzsch, Robrecht Raedt, Jens Schmidt, Boel De Paepe, Jan L. De Bleecker
Published in:
International Journal of Molecular Sciences, Issue 23, 2024, Page(s) 3251, ISSN 1422-0067
Publisher:
Multidisciplinary Digital Publishing Institute (MDPI)
DOI:
10.3390/ijms23063251
Author(s):
Renee Salz, Nuno Saraiva-Agostinho, Emil Vorsteveld, Caspar I. van der Made, Simone Kersten, Merel Stemerdink, Jamie Allen, Pieter-Jan Volders, Sarah E. Hunt, Alexander Hoischen, Peter A.C. ’t Hoen
Published in:
BMC Genomics, Issue 24, 2023, ISSN 1471-2164
Publisher:
BioMed Central
DOI:
10.1186/s12864-023-09391-5
Author(s):
Chris T. Evelo; Alberto Mantovani; Anaı̈s Baudot; Friederike Ehrhart; Ozan Ozisik
Published in:
F1000Research, Vol 10 (2022), Issue 1, 2021, ISSN 2046-1402
Publisher:
F1000 Research Ltd.
Author(s):
Jana Sajovic, Andrej Meglič, Zelia Corradi, Mubeen Khan, Aleš Maver, Martina Jarc Vidmar, Marko Hawlina, Frans P. M. Cremers, Ana Fakin
Published in:
Investigative Opthalmology & Visual Science, Issue 64, 2023, Page(s) 33, ISSN 1552-5783
Publisher:
ARVO Journals
DOI:
10.1167/iovs.64.12.33
Author(s):
Luiz Olavo Bonino da Silva Santos, Kees Burger, Rajaram Kaliyaperumal, Mark D. Wilkinson
Published in:
Data Intelligence, 2022, ISSN 2641-435X
Publisher:
MIT Press
DOI:
10.1162/dint_a_00160
Author(s):
Dieter Hayn, Karl Kreiner, Emanuel Sandner, Martin Baumgartner, Bernhard Jammerbund, Markus Falgenhauer, Vanessa Düster, Priyanka Devi-Marulkar, Gudrun Schleiermacher, Ruth Ladenstein, Guenter Schreier
Published in:
Cancers, Issue 16, 2024, Page(s) 2696, ISSN 2072-6694
Publisher:
Multidisciplinary Digital Publishing Institute (MDPI)
DOI:
10.3390/cancers16152696
Author(s):
Corinna Grasemann, Marina Mordenti, Inês Alves, Rebecca Skarberg, Ondrej Soucek, Marco Roos, M. Kassim Javaid, S. Faisal Ahmed, Agnès Lignart, Klaus Mohnike, Wolfgang Högler, Luca Sangiorgi, Natasha M. Appelman-Dijkstra
Published in:
Bone Reports, Issue 13, 2020, Page(s) 100318, ISSN 2352-1872
Publisher:
Elsevier Inc.
DOI:
10.1016/j.bonr.2020.100318
Author(s):
Steven Laurie, Davide Piscia, Leslie Matalonga, Alberto Corvó, Marcos Fernández-Callejo, Carles Garcia-Linares, Carles Hernandez-Ferrer, Cristina Luengo, Inés Martínez, Anastasios Papakonstantinou, Daniel Picó-Amador, Joan Protasio, Rachel Thompson, Raul Tonda, Mònica Bayés, Gemma Bullich, Jordi Camps-Puchadas, Ida Paramonov, Jean-Rémi Trotta, Angel Alonso, Marcella Attimonelli, Christophe
Published in:
Human Mutation, Issue Volume 43, Issue 6, 2022, Page(s) Pages 717-733, ISSN 1098-1004
Publisher:
Hindawi
DOI:
10.1002/humu.24353
Author(s):
Francis Jeanson, Spencer J. Gibson, Pinar Alper, Alexander Bernier, J. Patrick Woolley, Daniel Mietchen, Andrzej Strug, Regina Becker, Pim Kamerling, Maria del Carmen Sanchez Gonzalez, Nancy Mah, Ann Novakowski, Mark D. Wilkinson, Oussama Mohammed Benhamed, Annalisa Landi, Georg Philip Krog, Heimo Müller, Umar Riaz, Colin Veal, Petr Holub, Esther van Enckevort, Anthony J. Brookes
Published in:
Scientific Data, Issue 11, 2024, ISSN 2052-4463
Publisher:
Springer Nature
DOI:
10.1038/s41597-024-03280-6
Author(s):
Friederike Ehrhart, Annika Jacobsen, Maria Rigau, Mattia Bosio, Rajaram Kaliyaperumal, Jeroen F. J. Laros, Egon L. Willighagen, Alfonso Valencia, Marco Roos, Salvador Capella-Gutierrez, Leopold M. G. Curfs, Chris T. Evelo
Published in:
Scientific Data, Issue 8/1, 2021, Page(s) 10, ISSN 2052-4463
Publisher:
Nature
DOI:
10.1038/s41597-020-00794-7
Author(s):
Galliano Zanello; Macarena Garrido‐Estepa; Ana Crespo; Daniel O'Connor; Rima Nabbout; Christina Waters; Anthony Hall; Maurizio Taglialatela; Chun‐Hung Chan; David A Pearce; Marc Dooms; Philip John Brooks
Published in:
EMBO Molecular Medicine, Vol 15, Iss 7, Pp n/a-n/a (2023), Issue 6, 2023, ISSN 1757-4684
Publisher:
Wiley Europe
DOI:
10.15252/emmm.202217159
Author(s):
Philip van Damme; Pablo Alarcón Moreno; César H. Bernabé; Alberto Cámara Ballesteros; Clémence M. A. Le Cornec; Bruna Dos Santos Vieira; K. Joeri van der Velde; Shuxin Zhang; Claudio Carta; Ronald Cornet; Peter A.C. ’t Hoen; Annika Jacobsen; Morris A. Swertz; Marco Roos; Nirupama Benis
Published in:
instname:Consejo Superior de Investigaciones Científicas (CSIC), Issue 8, 2023, ISSN 1683-1470
Publisher:
Committee on Data for Science and Technology (CODATA) International Council for Science (ICSU)
DOI:
10.5334/dsj-2023-012
Author(s):
Ausra Matuleviciene; Kamile Siauryte; Els Kuiper; Andreas M. Grabrucker
Published in:
European Journal of Medical Genetics, Issue 8, 2023, ISSN 1769-7212
Publisher:
Elsevier BV
DOI:
10.1016/j.ejmg.2023.104763
Author(s):
Annika Jacobsen, Rajaram Kaliyaperumal, Luiz Olavo Bonino da Silva Santos, Barend Mons, Erik Schultes, Marco Roos, Mark Thompson
Published in:
Data Intelligence, Issue 2/1-2, 2020, Page(s) 56-65, ISSN 2641-435X
Publisher:
The MIT PressJournals
DOI:
10.1162/dint_a_00028
Author(s):
Annika Jacobsen, Ricardo de Miranda Azevedo, Nick Juty, Dominique Batista, Simon Coles, Ronald Cornet, Mélanie Courtot, Mercè Crosas, Michel Dumontier, Chris T. Evelo, Carole Goble, Giancarlo Guizzardi, Karsten Kryger Hansen, Ali Hasnain, Kristina Hettne, Jaap Heringa, Rob W.W. Hooft, Melanie Imming, Keith G. Jeffery, Rajaram Kaliyaperumal, Martijn G. Kersloot, Christine R. Kirkpatrick, Tobias K
Published in:
Data Intelligence, Issue 2/1-2, 2020, Page(s) 10-29, ISSN 2641-435X
Publisher:
The MIT PressJournals
DOI:
10.1162/dint_r_00024
Author(s):
K. Joeri Velde, Sander Hoek, Freerk Dijk, Dennis Hendriksen, Cleo C. Diemen, Lennart F. Johansson, Kristin M. Abbott, Patrick Deelen, Birgit Sikkema‐Raddatz, Morris A. Swertz
Published in:
Advanced Genetics, Issue 1/1, 2020, Page(s) e10023, ISSN 2641-6573
Publisher:
Wiley
DOI:
10.1002/ggn2.10023
Author(s):
Ozan Ozisik, Svetlana Gorokhova, Mathieu Cerino, Marc Bartoli, Anaïs Baudot
Published in:
Scientific Reports, Issue 14, 2024, ISSN 2045-2322
Publisher:
Nature Publishing Group
DOI:
10.1038/s41598-024-60761-9
Author(s):
Pablo Alarcon, Ian Braun, Emily Hartley, Daniel Olson, Nirupama Benis, Ronald Cornet, Mark Wilkinson, Ramona L. Walls
Published in:
Journal of the Society for Clinical Data Management, Issue 2, 2023, ISSN 2694-1473
Publisher:
McLean VA
DOI:
10.47912/jscdm.130
Author(s):
Jon Landa, Ana Beatriz Serafim, Mercedes Alba, Estibaliz Maudes, Laura Molina-Porcel, Anna Garcia-Serra, Francesco Mannara, Josep Dalmau, Francesc Graus, Lidia Sabater
Published in:
Frontiers in Immunology, Issue 15, 2024, ISSN 1664-3224
Publisher:
Frontiers Media SA
DOI:
10.3389/fimmu.2024.1347948
Author(s):
Marcus Grobe-Einsler, Arian Taheri Amin, Jennifer Faber, Hartmut Völkel, Matthis Synofzik, Thomas Klockgether
Published in:
The Cerebellum, Issue 23, 2024, Page(s) 877-880, ISSN 1473-4230
Publisher:
Springer Nature
DOI:
10.1007/s12311-023-01543-3
Author(s):
Johan Verbeeck; Maya Dirani; Johann W. Bauer; Ralf-Dieter Hilgers; Geert Molenberghs; Rima Nabbout
Published in:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-11 (2023), Issue 8, 2023, ISSN 1750-1172
Publisher:
BioMed Central
DOI:
10.1186/s13023-023-02819-x
Author(s):
Jannis Körner, Natja Haag, Ingo Kurth, Angelika Lampert
Published in:
Neuroforum, Issue 28, 2023, Page(s) 67-75, ISSN 0947-0875
Publisher:
Spektrum Akademischer Verlag GmbH
DOI:
10.1515/nf-2021-0035
Author(s):
Nabbout, Rima; Zanello, Galliano; Baker, Dixie; Black, Lora; Brambilla, Isabella; Buske, Orion J.; Conklin, Laurie S.; Davies, Elin Haf; Julkowska, Daria; Kim, Yeonju; Klopstock, Thomas; Nakamura, Harumasa; Nielsen, Kim G.; Pariser, Anne R.; Pastor, Jose Carlos; Scarpa, Maurizio; Smith, Maureen; Taruscio, Domenica; Groft, Stephen
Published in:
Orphanet Journal of Rare Diseases, Issue 1, 2023, ISSN 1750-1172
Publisher:
BioMed Central
DOI:
10.6084/m9.figshare.22792857.v1
Author(s):
Ugo Sorrentino, Sylvia Boesch, Diane Doummar, Claudia Ravelli, Tereza Serranova, Elisabetta Indelicato, Juliane Winkelmann, Lydie Burglen, Robert Jech, Michael Zech
Published in:
Journal of Neurology, Issue 271, 2024, Page(s) 2859-2865, ISSN 0340-5354
Publisher:
Dr. Dietrich Steinkopff Verlag
DOI:
10.1007/s00415-024-12271-x
Author(s):
Willem Bosman, Joost G. J. Hoenderop, Jeroen H. F. de Baaij
Published in:
Proceedings of the Nutrition Society, Issue 80, 2023, Page(s) 327-338, ISSN 0029-6651
Publisher:
CABI Publishing
DOI:
10.1017/s0029665121000926
Author(s):
Maartje E Meier, Emese Vágó, Bo Abrahamsen, Olaf M Dekkers, Erzsébet Horváth-Puhó, Lars Rejnmark, Natasha M Appelman-Dijkstra
Published in:
The Journal of Clinical Endocrinology & Metabolism, Issue 109, 2024, Page(s) 1423-1432, ISSN 0021-972X
Publisher:
The Endocrine Society
DOI:
10.1210/clinem/dgad744
Author(s):
Lisa Rauschenberger, Chi Wang Ip
Published in:
Dystonia, Issue 3, 2024, ISSN 2813-2106
Publisher:
Frontiers Media SA
DOI:
10.3389/dyst.2024.11793
Author(s):
Margreet Walinga, Sarah Jesse, Norma Alhambra, Griet Van Buggenhout
Published in:
European Journal of Medical Genetics, Issue 66, 2023, Page(s) 104726, ISSN 1769-7212
Publisher:
Elsevier BV
DOI:
10.1016/j.ejmg.2023.104726
Author(s):
Nicolas Matentzoglu, James P Balhoff, Susan M Bello, Chris Bizon, Matthew Brush, Tiffany J Callahan, Christopher G Chute, William D Duncan, Chris T Evelo, Davera Gabriel, John Graybeal, Alasdair Gray, Benjamin M Gyori, Melissa Haendel, Henriette Harmse, Nomi L Harris, Ian Harrow, Harshad B Hegde, Amelia L Hoyt, Charles T Hoyt, Dazhi Jiao, Ernesto Jiménez-Ruiz, Simon Jupp, Hyeongsik Kim, Sebastian
Published in:
Database, Issue 2022, 2022, ISSN 1758-0463
Publisher:
Oxford University Press
DOI:
10.1093/database/baac035
Author(s):
Susanne Knorr, Lisa Rauschenberger, Tami Lang, Jens Volkmann, Chi Wang Ip
Published in:
Journal of Visualized Experiments, 2024, ISSN 1940-087X
Publisher:
MYJoVE Corporation
DOI:
10.3791/62606-v
Author(s):
Zuzana Matusova; Zuzana Matusova; Elly M. Hol; Milos Pekny; Milos Pekny; Milos Pekny; Mikael Kubista; Mikael Kubista; Lukas Valihrach; Lukas Valihrach
Published in:
Frontiers in Cellular Neuroscience, Vol 17 (2023), Issue 2, 2023, ISSN 1662-5102
Publisher:
Frontiers Research Foundation
DOI:
10.3389/fncel.2023.1212975
Author(s):
A.M. van Eeghen, D. Stemkens, José Ramón Fernández-Fructuoso, A. Maruani, K. Hadzsiev, I.D.C. van Balkom, C.M.W. Gaasterland, M.J. Klein Haneveld, Klea Vyshka, A. Hugon, A.M. van Eeghen, Norma Alhambra, Britt-Marie Anderlid, Stephanie Andres, Emmelien Aten, Rui Barbosa Guedes, Maria C. Bonaglia, Thomas Bourgeron, Monica Burdeus-Olavarrieta, Maya J. Carbin, Jennifer Cooke, Robert J. Damstra, Ire
Published in:
European Journal of Medical Genetics, Issue 66, 2023, Page(s) 104747, ISSN 1769-7212
Publisher:
Elsevier BV
DOI:
10.1016/j.ejmg.2023.104747
Author(s):
Shuxin Zhang, Nirupama Benis, Ronald Cornet
Published in:
BMC Medical Informatics and Decision Making, Issue 23, 2024, ISSN 1472-6947
Publisher:
BioMed Central
DOI:
10.1186/s12911-023-02182-8
Author(s):
Jasper Ouwerkerk, Stephanie Feleus, Kasper F. van der Zwaan, Yunlei Li, Marco Roos, Willeke M. C. van Roon-Mom, Susanne T. de Bot, Katherine J. Wolstencroft, Eleni Mina
Published in:
Orphanet Journal of Rare Diseases, Issue 18, 2023, ISSN 1750-1172
Publisher:
BioMed Central
DOI:
10.1186/s13023-023-02785-4
Author(s):
Lisa Koole, Pilar Martinez-Martinez, Therese van Amelsvoort, Chris T. Evelo, Friederike Ehrhart
Published in:
The World Journal of Biological Psychiatry, Issue 25, 2024, Page(s) 116-129, ISSN 1562-2975
Publisher:
WFSBP
DOI:
10.1080/15622975.2023.2281514
Author(s):
Leslie Matalonga, Steven Laurie, Anastasios Papakonstantinou, Davide Piscia, Elisabetta Mereu, Gemma Bullich, Rachel Thompson, Rita Horvath, Luis Pérez-Jurado, Olaf Riess, Ivo Gut, Gert-Jan van Ommen, Hanns Lochmüller, Sergi Beltran, Alessandra Renieri, Ali Dursun, Antoni Matilla-Duenas, Bru Cormand, Carlo Rivolta, Carmen Ayuso, Carmen Espinós, Christian Scerri, Dilek Yalnizoglu, Doriette Soler
Published in:
The Journal of Molecular Diagnostics, Issue 22/9, 2020, Page(s) 1205-1215, ISSN 1525-1578
Publisher:
American Society for Investigative Pathology
DOI:
10.1016/j.jmoldx.2020.06.008
Author(s):
María Rodríguez-Hidalgo, Suzanne E. de Bruijn, Zelia Corradi, Kim Rodenburg, Araceli Lara-López, Alicia Valverde-Megías, Almudena Ávila-Fernández, Lidia Fernandez-Caballero, Marta Del Pozo-Valero, Jordi Corominas, Christian Gilissen, Cristina Irigoyen, Frans P. M. Cremers, Carmen Ayuso, Javier Ruiz-Ederra, Susanne Roosing
Published in:
Frontiers in Genetics, Issue 14, 2023, ISSN 1664-8021
Publisher:
Frontiers Media
DOI:
10.3389/fgene.2023.1234032
Author(s):
Dolores Pérez-Sala, María A. Pajares
Published in:
International Journal of Molecular Sciences, Issue 24, 2023, Page(s) 8059, ISSN 1422-0067
Publisher:
Multidisciplinary Digital Publishing Institute (MDPI)
DOI:
10.3390/ijms24098059
Author(s):
Colette Reinhold, Susanne Knorr, Rhonda L. McFleder, Lisa Rauschenberger, Muthuraman Muthuraman, Panagiota Arampatzi, Tom Gräfenhan, Andreas Schlosser, Michael Sendtner, Jens Volkmann, Chi Wang Ip
Published in:
Neurobiology of Disease, Issue 193, 2024, Page(s) 106453, ISSN 0969-9961
Publisher:
Academic Press
DOI:
10.1016/j.nbd.2024.106453
Author(s):
Joakim Nyberg, Andrew C. Hooker, Georg Zimmermann, Johan Verbeeck, Martin Geroldinger, Konstantin Emil Thiel, Geert Molenberghs, Martin Laimer, Verena Wally
Published in:
Computational Statistics & Data Analysis, Issue 199, 2024, Page(s) 108015, ISSN 0167-9473
Publisher:
Elsevier BV
DOI:
10.1016/j.csda.2024.108015
Author(s):
Ryan A. Miller, Friederike Ehrhart, Lars M. T. Eijssen, Denise N. Slenter, Leopold M. G. Curfs, Chris T. Evelo, Egon L. Willighagen, Martina Kutmon
Published in:
Frontiers in Genetics, Issue 10, 2019, ISSN 1664-8021
Publisher:
Frontiers Media
DOI:
10.3389/fgene.2019.00059
Author(s):
Martin Geroldinger; Johan Verbeeck; Andrew C. Hooker; Konstantin E. Thiel; Geert Molenberghs; Joakim Nyberg; Johann Bauer; Martin Laimer; Verena Wally; Arne C. Bathke; Georg Zimmermann
Published in:
Orphanet J Rare Dis, Issue 18(1):391, 2023, ISSN 1750-1172
Publisher:
BioMed Central
DOI:
10.1186/s13023-023-02990-1
Author(s):
Rajaram Kaliyaperumal; Mark D Wilkinson; Pablo Alarcón Moreno; Nirupama Benis; Ronald Cornet; Bruna dos Santos Vieira; Michel Dumontier; César Henrique Bernabé; Annika Jacobsen; Clémence M. A. Le Cornec; Mario Prieto Godoy; Núria Queralt-Rosinach; Leo J Schultze Kool; Morris A Swertz; Philip van Damme; Joeri K van der Velde; Nawel van Lin; Shuxin Zhang; Marco Roos
Published in:
Journal of Biomedical Semantics, 2022, ISSN 2041-1480
Publisher:
BioMed Central
DOI:
10.1186/s13326-022-00264-6
Author(s):
Mélanie Corcuff; Marc Garibal; Jean-Pierre Desvignes; Céline Guien; Coralie Grattepanche; Gwenaëlle Collod-Béroud; Estelle Ménoret; David Salgado; Christophe Béroud; Christophe Béroud
Published in:
Front Bioinform, 2023, ISSN 2673-7647
Publisher:
Frontiers Media S.A
DOI:
10.3389/fbinf.2023.1127341
Author(s):
Friederike Ehrhart, Ana Silva, Therese van Amelsvoort, Emma von Scheibler, Chris Evelo, David E.J Linden
Published in:
The World Journal of Biological Psychiatry, Issue 25, 2024, Page(s) 222-232, ISSN 1562-2975
Publisher:
WFSBP
DOI:
10.1080/15622975.2024.2327027
Author(s):
Renee Salz, Nuno Saraiva-Agostinho, Emil Vorsteveld, Caspar I. van der Made, Simone Kersten, Merel Stemerdink, Jamie Allen, Pieter-Jan Volders, Sarah E. Hunt, Alexander Hoischen, Peter A.C. ’t Hoen
Published in:
BARI RD conference, 2022
Publisher:
CSHL
DOI:
10.1101/2022.10.23.513417
Author(s):
Denise N. Slenter, Irene M.G.M. Hemel, Chris T. Evelo, Jörgen Bierau, Egon L. Willighagen, Laura K.M. Steinbusch
Published in:
medRxiv, 2022
Publisher:
Cold Spring Harbour Laboratory
DOI:
10.1101/2022.01.31.21265847
Author(s):
Rudolf Wittner; Cecilia Mascia; Matej Gallo; Francesca Frexia; Heimo Müller; Markus Plass; Jörg Geiger; Petr Holub
Published in:
Crossref, Issue 1, 2022
Publisher:
Sci Data
DOI:
10.1038/s41597-022-01537-6
Author(s):
Helle Høyer; Hilde T Hilmarsen; Raute Sunder-Plassmann; Geir J Braathen; Peter M Andersen; Christian Beetz; Sandra Hacker; Øystein L Holla; Ingo Kurth; Wolfgang N Löscher; Simone B C F Reiter; Sabine Rudnik-Schöneborn; Linda Strand; Reinhard Windhager; Martina Witsch-Baumgartner; Jan Senderek; Michaela Auer-Grumbach
Published in:
Crossref, Issue Oct;59(10):1024-1026, 2022
Publisher:
J Med Genet
DOI:
10.1136/jmedgenet-2021-108281
Author(s):
Giulia Ponterio; Gaia Faustini; Ilham El Atiallah; Giuseppe Sciamanna; Maria Meringolo; Annalisa Tassone; Paola Imbriani; Silvia Cerri; Giuseppina Martella; Paola Bonsi; Arianna Bellucci; Antonio Pisani
Published in:
Crossref, Issue 37(5):949-961, 2022
Publisher:
Mov Disord
DOI:
10.1002/mds.29024
Author(s):
Mallory A. Freeberg; Lauren A Fromont; Teresa D’Altri; Anna Foix Romero; Jorge Izquierdo Ciges; Aina Jene; Giselle Kerry; Mauricio Moldes; Roberto Ariosa; Silvia Bahena; Daniel Barrowdale; Marcos Casado Barbero; Dietmar Fernandez-Orth; Carles Garcia-Linares; Emilio Garcia-Rios; Frédéric Haziza; Bela Juhasz; Oscar Martinez Llobet; Gemma Milla; Anand Mohan; Manuel Rueda; Aravind Sankar; Dona Sha
Published in:
Nucleic Acids Research, Issue Volume 50, Issue D1, 7 January 2022, 2021, Page(s) Pages D980–D987
Publisher:
Oxford Academic
DOI:
10.1093/nar/gkab1059
Author(s):
te Paske, Iris B. A. W.; Garcia-Pelaez, José; Sommer, Anna K.; Matalonga, Leslie; Starzynska, Teresa; Jakubowska, Anna; Valle, Laura; Capella, Gabriel; Aretz, Stefan; Holinski-Feder, Elke; Steinke-Lange, Verena; Laner, Andreas; Schröck, Evelin; Rump, Andreas; Ligtenberg, Marjolijn; Hoischen, Alexander; Geverink, Nicoline; Evans, D. Gareth; Tischkowitz, Marc; Laurie, Steven; van der Post, Rachel
Published in:
European Journal of Human Genetics ,, Issue vol. 29 , no. 9, 2021, Page(s) pp. 1354-1358
Publisher:
European Journal of Genetics
DOI:
10.1038/s41431-021-00853-6
Author(s):
Samuel Kuehs; Laura Teege; Ann-Katrin Hellberg; Christina Stanke; Natja Haag; Ingo Kurth; Robert Blum; Carla Nau; Enrico Leipold
Published in:
Crossref, Issue 1, 2022
Publisher:
Front. Mol. Neurosci
DOI:
10.3389/fnmol.2022.1076187
Author(s):
Martijn G. Kersloot; Annika Jacobsen; Karlijn H. J. Groenen; Bruna dos Santos Vieira; Rajaram Kaliyaperumal; Ameen Abu-Hanna; Ronald Cornet; Peter A C 't Hoen; Marco Roos; Leo J. Schultze Kool; Derk L. Arts
Published in:
VOLUME=122;TITLE=Journal of Biomedical Informatics, Issue 1, 2021
Publisher:
Science direct
DOI:
10.1016/j.jbi.2021.103897
Author(s):
Dzinovic, I.; Škorvánek, M.; Pavelekova, P.; Zhao, C.; Keren, B.; Whalen, S.; Bakhtiari, S.; Chih Jin, S.; Kruer, M.C.; Jech, R.; Winkelmann, J.; Zech, M.
Published in:
Annals of Clinical and Translational Neurology, Vol 8, Iss 4, Pp 951-955 (2021), Issue 1, 2021
Publisher:
Ann Clin Transl Neurol
Author(s):
Annalisa Tassone; Giuseppina Martella; Maria Meringolo; Valentina Vanni; Giuseppe Sciamanna; Giulia Ponterio; Paola Imbriani; Paola Bonsi; Antonio Pisani
Published in:
Movement disorders, Issue 1, 2021
Publisher:
Movement disorders
DOI:
10.1002/mds.28698
Author(s):
K. Joeri van der Velde; Gurnoor Singh; Rajaram Kaliyaperumal; XiaoFeng Liao; Sander de Ridder; Susanne Rebers; Hindrik H. D. Kerstens; Fernanda de Andrade; Jeroen van Reeuwijk; Fini E. De Gruyter; Saskia Hiltemann; Maarten Ligtvoet; Marjan M. Weiss; Hanneke W. M. van Deutekom; Anne M. L. Jansen; Andrew P. Stubbs; Lisenka E. L. M. Vissers; Jeroen F. J. Laros; Esther van Enckevort; Daphne Stemkens;
Published in:
van der Velde , K J , Singh , G , Kaliyaperumal , R , Liao , X , de Ridder , S , Rebers , S , Kerstens , H H D , de Andrade , F , van Reeuwijk , J , de Gruyter , F E , Hiltemann , S , Ligtvoet , M , Weiss , M M , van Deutekom , H W M , Jansen , A M L , Stubbs , A P , Vissers , L E L M , Laros , J F J , van Enckevort , E , Stemkens , D , ‘t Hoen , P A C , Beliën , J A M , van Gijn , M E & Swertz, Issue 1, 2022
Publisher:
Scientific data
DOI:
10.1038/s41597-022-01265-x
Author(s):
Friederike Ehrhart, Chris T. Evelo
Published in:
Data Science, Issue 5(1), 2022, Page(s) 25-27
Publisher:
IOS Press
DOI:
10.3233/ds-210041
Author(s):
Zeinab Fadaie; Kornelia Neveling; Tuomo Mantere; Ronny Derks; Lonneke Haer-Wigman; Amber den Ouden; Michael Kwint; Luke O’Gorman; Dyon Valkenburg; Carel B. Hoyng; Christian Gilissen; Lisenka E.L.M. Vissers; Marcel R. Nelen; Frans P.M. Cremers; Alexander Hoischen; Susanne Roosing
Published in:
HGG Advances, 2, 1 - 11, Issue 1, 2022
Publisher:
Science direct
DOI:
10.1016/j.xhgg.2021.100046
Author(s):
Marvin Martens; Franziska Kreidl; Friederike Ehrhart; Didier Jean; Merlin Mei; Holly M. Mortensen; Alistair Nash; Penny Nymark; Chris T. Evelo; Ferdinando Cerciello
Published in:
"Frontiers in Oncology, Frontiers, 2022, 12, pp.849640. ⟨10.3389/fonc.2022.849640⟩", Issue 1, 2022
Publisher:
Frontiers in oncology
DOI:
10.3389/fonc.2022.849640
Author(s):
Jordi Rambla; Michael Baudis; Roberto Ariosa; Tim Beck; Lauren A. Fromont; Arcadi Navarro; Rahel Paloots; Manuel Rueda; Gary Saunders; Babita Singh; John D. Spalding; Juha Törnroos; Claudia Vasallo; Colin D. Veal; Anthony J. Brookes
Published in:
instname:, Issue 1, 2022
Publisher:
Zurich Open Repository and Archive, University of Zurich
DOI:
10.1002/humu.24369
Author(s):
Daan H H M Viering; Karl-Peter Schlingmann; Marguerite Hureaux; Tom Nijenhuis; Andrew Mallett; Melanie Chan; André P van Beek; Albertien M. van Eerde; Jean-Marie Coulibaly; Marion Vallet; Stéphane Decramer; Solenne Pelletier; Günter Klaus; Martin Kömhoff; Rolf Beetz; Chirag Patel; Mohan Shenoy; Eric J. Steenbergen; Glenn Anderson; Ernie M.H.F. Bongers; Carsten Bergmann; Daan M. Panneman; Richa
Published in:
VOLUME=33;STARTPAGE=305;ENDPAGE=325;ISSN=1046-6673;TITLE=Journal of the American Society of Nephrology, Issue 1, 2022
Publisher:
JASN
DOI:
10.1681/asn.2021050596
Author(s):
Gemma Bullich; Leslie Matalonga; Montserrat Pujadas; Anastasios Papakonstantinou; Davide Piscia; Raúl Tonda; Rafael Artuch; Pia Gallano; Glòria Garrabou; Juan R. González; Daniel Grinberg; Míriam Guitart; Steven Laurie; Conxi Lázaro; Cristina Luengo; Ramon Martí; Montserrat Milà; David Ovelleiro; Genís Parra; Aurora Pujol; Eduardo Tizzano; Alfons Macaya; Francesc Palau; Antònia Ribes; Lui
Published in:
reponame:r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau, Issue 1, 2022
Publisher:
The journal of molecular diagnostics
DOI:
10.1016/j.jmoldx.2022.02.003
Author(s):
Johannes N. Greve; Frederic V. Schwäbe; Thomas Pokrant; Jan Faix; Nataliya Di Donato; Manuel H. Taft; Dietmar J. Manstein
Published in:
Crossref, Issue 1, 2022
Publisher:
Elsevier GmbH
DOI:
10.1016/j.ejcb.2022.151216
Author(s):
Bernab��, C��sar Henrique; Jacobsen, Annika; Queralt Rosinach, N��ria; Bonino da Silva Santos, Luiz Olavo; Silva Souza, V��tor E.; Mons, Barend; Roos, Marco
Published in:
Zenodo, Issue 1, 2021
Publisher:
Zenodo
DOI:
10.5281/zenodo.5784628
Author(s):
Hooft, Rob; Roos, Marco
Published in:
Issue 5, 2023
Publisher:
Zenodo
DOI:
10.5281/zenodo.7949903
Author(s):
Bruna dos Santos Vieira, Karlijn Groenen, P.A.C. ‘t Hoen, Annika Jacobsen, Marco Roos, Rajaram Kaliyaperumal, Martijn Kersloot, Ronald Cornet, Leo Schultze Kool
Published in:
Studies in Health Technology and Informatics, Issue Volume 271: dHealth 2020 – Biomedical Informatics for Health and Care, 2020, Page(s) 115 - 116, ISSN 0926-9630
Publisher:
IOS Press
DOI:
10.3233/shti200085
Author(s):
Liao, Xiaofeng; de Jong, Milou; van Damme, Philip; Cornet, Ronald; Dos Santos Vieira, Bruna; Lutomski, Jennifer; Brullemans-Spansier, Mirjam; 't Hoen, Peter
Published in:
Zenodo, Issue 1, 2022
Publisher:
Zenodo
DOI:
10.5281/zenodo.7029267
Author(s):
Friederike Ehrhart, Ana Silva, Therese van Amelsvoort, Emma von Scheibler, Chris Evelo, David E.J. Linden
Published in:
bioRxiv, 2022, Page(s) United States
Publisher:
Cold Spring Harbour Laboratory
DOI:
10.1101/2022.02.07.479370
Author(s):
Birute Tumiene 1, Harm Peters 2 3, Bela Melegh 4, Borut Peterlin 5, Algirdas Utkus 1 3, Natalja Fatkulina 6, György Pfliegler 7, Holm Graessner 8 9, Sanja Hermanns 8 9, Maurizio Scarpa 10, Jean-Yves Blay 11, Sharon Ashton 12, Lucy McKay 13, Gareth Baynam 14 15 16
Published in:
Orphanet Journal of Rare disease, Issue 19;17(1):441, 2022
Publisher:
BMC
DOI:
10.1186/s13023-022-02527-y
Author(s):
Inês Henriques; Bruna dos Santos Vieira; César Henriques Bernabé; Shuxin Zhang; Alberto Cámara Ballesteros; Jose Antonio Ramírez García; Joeri van der Velde; Nirupama Benis; Peter 't Hoen; Marco Roos; Annika Jacobsen; Ronald Cornet; Mark Wilkinson; Franz Schaefer; Morris Swertz
Published in:
Issue 9, 2023
Publisher:
Zenodo
DOI:
10.5281/zenodo.7915232
Author(s):
Matalonga, Leslie; Hernández-Ferrer, Carles; Piscia, Davide; Schüle, Rebecca; Synofzik, Matthis; Töpf, Ana; Vissers, Lisenka E. L. M.; de Voer, Richarda; Tonda, Raul; Laurie, Steven; Fernandez-Callejo, Marcos; Picó, Daniel; Garcia-Linares, Carles; Papakonstantinou, Anastasios; Corvó, Alberto; Joshi, Ricky; Diez, Hector; Gut, Ivo; Hoischen, Alexander; Graessner, Holm; Beltran, Sergi; Cohen, En
Published in:
European journal of human genetics, Issue 1, 2021
Publisher:
Eur J Hum Genet
DOI:
10.1038/s41431-021-00852-7
Author(s):
Jeroen Kerstens, Maarten J. Titulaer
Published in:
Handbook of Clinical Neurology, Paraneoplastic Neurologic Disorders, 2024, Page(s) 97-112, ISSN 0072-9752
Publisher:
Elsevier
DOI:
10.1016/b978-0-12-823912-4.00015-3
Author(s):
Dieter Hayn, Emanuel Sandner, Abishaa Vengadeswaran, Elena-Alexandra Tãtaru, Mark Wilkinson, Marc Hanauer, Karl Kreiner, Guenter Schreier
Published in:
Studies in Health Technology and Informatics, Digital Health and Informatics Innovations for Sustainable Health Care Systems, 2024
Publisher:
IOS Press
DOI:
10.3233/shti240683
Author(s):
Philip van Damme; Jesualdo Tomás Fernández-Breis; Nirupama Benis; Jose Antonio Miñarro-Gimenez; Nicolette F. de Keizer; Ronald Cornet
Published in:
Journal of Biomedical Semantics, 13(1):19. BioMed Central Ltd., Issue 1, 2022, ISSN 2041-1480
Publisher:
Journal of biomedical semantics
DOI:
10.1186/s13326-022-00273-5
Author(s):
Schüle, Rebecca; Timmann, Dagmar; Erasmus, Corrie E.; Reichbauer, Jennifer; Wayand, Melanie; van de Warrenburg, Bart; Schöls, Ludger; Wilke, Carlo; Bevot, Andrea; Zuchner, Stephan; Beltran, Sergi; Laurie, Steven; Matalonga, Leslie; Graessner, Holm; Synofzik, Matthis; Baets, Jonathan; Balicza, Peter; Chinnery, Patrick; Dürr, Alexandra; Haack, Tobias; Hengel, Holger; Horvath, Rita; Houlden, Henry
Published in:
European journal of human genetics, Issue 1, 2021, ISSN 1476-5438
Publisher:
European Journal of Human Genetics
DOI:
10.1038/s41431-021-00901-1
Author(s):
Rosa Vargas-Poussou; Felix Claverie-Martin; Caroline Prot-Bertoye; Valentina Carotti; Jenny van der Wijst; Ana Perdomo-Ramirez; Gloria M Fraga-Rodriguez; Marguerite Hureaux; Caro Bos; Femke Latta; Pascal Houillier; Joost G J Hoenderop; Jeroen H F de Baaij
Published in:
reponame:r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau, Issue 1, 2022, ISSN 0931-0509
Publisher:
Oxford University Press
DOI:
10.1093/ndt/gfac182
Author(s):
Queralt Rosinach, N.; Kaliyaperumal, R.; Bernabe, C.H.; Long, Q.Q.; Joosten, S.A.; Wijk, H.J. van der; Flikkenschild, E.L.A.; Burger, K.; Jacobsen, A.; Mons, B.; Roos, M.; BEAT COVID Grp; COVID-19 LUMC Grp
Published in:
Journal of Biomedical Semantics, 13(1). BMC, Issue 1, 2022, ISSN 2041-1480
Publisher:
BMC
DOI:
10.1186/s13326-022-00263-7
Author(s):
I. Verhaart, P. 'tHoen, M. Roos, E. Vroom
Published in:
Neuromuscular Disorders, Issue 30, 2020, Page(s) S86, ISSN 0960-8966
Publisher:
Elsevier BV
DOI:
10.1016/j.nmd.2020.08.137
Author(s):
Karlijn H.J. Groenen, Annika Jacobsen, Martijn G. Kersloot, Bruna Vieira, Esther van Enckevort, Rajaram Kaliyaperumal, Derk L. Arts, Peter A.C. ‘t Hoen, Ronald Cornet, Marco Roos, Leo Schultze Kool
Published in:
Orphanet Journal of Rare Diseases, Issue 16(1), 2021, Page(s) 376, ISSN 1750-1172
Publisher:
BioMed Central
DOI:
10.1186/s13023-021-02004-y
Author(s):
Ryan A. Miller; Martina Kutmon; Anwesha Bohler; Andra Waagmeester; Chris T. Evelo; Egon Willighagen
Published in:
Plos one, Issue 1, 2022, ISSN 1932-6203
Publisher:
Public Library of Science
DOI:
10.1101/2020.07.31.230599
Author(s):
Annalisa Landi, Mark Thompson, Viviana Giannuzzi, Fedele Bonifazi, Ignasi Labastida, Luiz Olavo Bonino da Silva Santos, Marco Roos
Published in:
Data Intelligence, Issue 2/1-2, 2020, Page(s) 47-55, ISSN 2641-435X
Publisher:
The MIT PressJournals
DOI:
10.1162/dint_a_00027
Author(s):
Marco Roos, Mark D. Wilkinson, Ronald Cornet, Deborah Mascalzoni, Veronica Popa, Ian Harrow,Claudio Carta, Yaffa R. Rubinstein, Dipak Kalra, Ana Rath, Victoria Hedley, Gülçin Gümüş
Published in:
Orphanet Journal of Rare Diseases, Issue 15/S1, 2020, ISSN 1750-1172
Publisher:
BioMed Central
DOI:
10.1186/s13023-020-01550-1
Author(s):
Erika Souche Sergi Beltran, Erwin Brosens, John W Belmont, Magdalena Fossum, Olaf Riess, Christian Gilissen, Amin Ardeshirdavani, Gunnar Houge, Marielle van Gijn , Jill Clayton-Smith , Matthis Synofzik , Nicole de Leeuw, Zandra C Deans, Yasemin Dincer, Sebastian H Eck, Saskia van der Crabben, Meena Balasubramanian, Holm Graessner , Marc Sturm, Helen Firth, Alessandra Ferlini, Rima Nabbout, Elfrid
Published in:
Eur. J. Hum. Genet., Issue Sep;30(9), 2022, Page(s) 1017-1021, ISSN 1476-5438
Publisher:
European Journal of Human Genetics
DOI:
10.1038/s41431-022-01113-x
Author(s):
Zeinab Fadaie; Laura Whelan; Tamar Ben-Yosef; Adrian Dockery; Zelia Corradi; Christian Gilissen; Lonneke Haer-Wigman; Jordi Corominas; Galuh D.N. Astuti; Galuh D.N. Astuti; Laura de Rooij; L. Ingeborgh van den Born; Caroline C W Klaver; Caroline C W Klaver; Carel B. Hoyng; Niamh Wynne; Emma Duignan; Paul F. Kenna; Paul F. Kenna; Frans P.M. Cremers; G. Jane Farrar; Susanne Roosing
Published in:
NPJ Genomic Medicine, 6, Issue 1, 2021, ISSN 2056-7944
Publisher:
Genomic medicine
DOI:
10.1038/s41525-021-00261-1
Author(s):
Jonathan Lawson; Moran N. Cabili; Giselle Kerry; Tiffany Boughtwood; Adrian Thorogood; Adrian Thorogood; Pinar Alper; Sarion R. Bowers; Rebecca R. Boyles; Anthony J. Brookes; Matthew Brush; Tony Burdett; Hayley L. Clissold; Stacey Donnelly; Stephanie O. M. Dyke; Mallory A. Freeberg; Melissa Haendel; Chihiro Hata; Petr Holub; Francis Jeanson; Aina Jene; Minae Kawashima; Shuichi Kawashima; Melissa A
Published in:
Cell genome, Issue 1, 2021, ISSN 2666-979X
Publisher:
Cell genome
DOI:
10.1016/j.xgen.2021.100028
Author(s):
Federica Invernizzi; Andrea Legati; Alessia Nasca; Eleonora Lamantea; Barbara Garavaglia; Mirjana Gusic; Robert Kopajtich; Holger Prokisch; Massimo Zeviani; Costanza Lamperti; Daniele Ghezzi
Published in:
Brain, Issue Volume 144, Issue 9, 2021, Page(s) e74, ISSN 1460-2156
Publisher:
Oxford academic
DOI:
10.1093/brain/awab238
Author(s):
Sebastian M. Siegner; Laura Ugalde; Alexandra Clemens; Laura Garcia-Garcia; Juan A. Bueren; Paula Rio; Mehmet E. Karasu; Jacob E. Corn
Published in:
Nature Communications, 13 (1), Issue 1, 2022, ISSN 2041-1723
Publisher:
Nature Publishing Group
DOI:
10.3929/ethz-b-000582242
Author(s):
Marta del Álamo; Christoph Bührer; Dirk Fisher; Matthias Griese; Paul Lingor; Giovanni Palladini; Nicolas Sireau; Virginie Hivert; Luca Sangiorgi; Florence Guillot; Juliane Halftermeyer; Lenka Soucková; Kristýna Nosková; Regina Demlová
Published in:
Crossref, Issue 1, 2022, ISSN 1745-6215
Publisher:
BioMed Central
DOI:
10.1186/s13063-022-06713-y
Author(s):
Queralt-Rosinach, Núria; Schofield, Paul N.; Hoehndorf, Robert; Weiland, Claus; Schultes, Erik; Bernabé, César H.; Roos, Marco
Published in:
BioHackrXiv, Issue 6, 2021
Publisher:
BioHackrXiv
DOI:
10.37044/osf.io/n6tcz
Author(s):
Núria Queralt-Rosinach1, Mark Wilkinson2, Rajaram Kaliyaperumal1,César H. Bernabé1, Qinqin Long1, Michel Dumontier3, Paul N. Schofield4andMarco Roos
Published in:
CEUR Workshop Proceedings, 2021, ISSN 1613-0073
Publisher:
University of Cambridge
DOI:
10.17863/cam.77969
Author(s):
Queralt-Rosinach, Núria
Schofield, Paul
Hoehndorf, Robert
Weiland, Claus
Schultes, Erik
Bernabé, César
Roos, Marco
Published in:
ISMB 2021, 2021
Publisher:
Zenodo
Author(s):
Michael Clarkson; Allyson Egan; Mark A Little
Published in:
Zenodo, Issue 58, 2022
Publisher:
Zenodo
DOI:
10.5281/zenodo.7154405
Author(s):
null null, Oussama Mohammed Benhamed
Published in:
2024
Publisher:
Universidad Politecnica de Madrid - University Library
DOI:
10.20868/upm.thesis.81819
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Author(s): Bernabé, César H.; Queralt-Rosinach, Núria; Silva Souza, Vítor E.; Bonino da Silva Santos, Luiz Olavo; Jacobsen, Annika; Mons, Barend; Roos, Marco
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Author(s): dos Santos Vieira, Bruna; Bernabé, César H.; Zhang, Shuxin; Abaza, Haitham; Benis, Nirupama; Cámara, Alberto; Cornet, Ronald; Le Cornec, Clémence M. A.; ’t Hoen, Peter A. C.; Schaefer, Franz; van der Velde, K. Joeri; Swertz, Morris A.; Wilkinson, Mark D.; Jacobsen, Annika; Roos, Marco
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Author(s): Roos, Marco; Carta, Claudio; dos Santos Vieira, Bruna; Kaliyaperumal, Rajaram; Kersloot, Martijn; Jacobsen, Annika; Cornet, Ronald; Wilkinson, Mark; Hanauer, Marc; Benis, Nirupama; Lee Cellai, Laura; Bernabé, César Henrique; Taruscio, Domenica; 't Hoen, P.A.C.; Cámara Ballesteros, Alberto; de Oliveira Coelho Henriques, Ines; Ramírez García, Jose Antonio; Zhang, Shuxin; van der Velde, Joeri; Swertz, Morris A.
Published in: Zenodo
Author(s): Bernabé, César; Jacobsen, Annika; Santos, Luiz; Roos, Marco
Published in: Zenodo
Author(s): Cámara Ballesteros, Alberto; dos Santos Vieira, Bruna; Roos, Marco; Carta, Claudio; Bernabe, Cesar Henrique; Zhang, Shuxin; Benis, Nirupama; van der Velde, Joeri; Kaliyaperumal, Rajaram; Coelho de Oliveira Henriques, Ines
Published in: Zenodo
Author(s): Ozisik, Ozan; Kara, Nazli Sila; Abbassi-Daloii, Tooba; Térézol, Morgane; Queralt-Rosinach, Núria; Jacobsen, Annika; Sezerman, Osman Ugur; Roos, Marco; Evelo, Chris T.; Baudot, Anaïs; Ehrhart, Friederike; Mina, Eleni
Published in: Zenodo
Author(s): Liao, Xiaofeng; de Jong, Milou; van Damme, Philip; Cornet, Ronald; Dos Santos Vieira, Bruna; Lutomski, Jennifer; Brullemans-Spansier, Mirjam; 't Hoen, Peter
Published in: Zenodo
Author(s): Clarkson, Michael; Egan, Allyson; Little, Mark A
Published in: Zenodo
Author(s): Sara Sepe; Francesca Rossiello; Valeria Cancila; Fabio Iannelli; Valentina Matti; Giada Cicio; Matteo Cabrini; Eugenia Marinelli; Busola Alabi; Alessia di Lillo; Arianna Di Napoli; Jerry Shay; Claudio Tripodo; and Fabrizio d'Adda di Fagagna
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