Shortening the path to rare disease diagnosis by using newborn genetic screening and digital technologies

CORDIS oferuje możliwość skorzystania z odnośników do publicznie dostępnych publikacji i rezultatów projektów realizowanych w ramach programów ramowych HORYZONT.

Odnośniki do rezultatów i publikacji związanych z poszczególnymi projektami 7PR, a także odnośniki do niektórych konkretnych kategorii wyników, takich jak zbiory danych i oprogramowanie, są dynamicznie pobierane z systemu OpenAIRE .

Rezultaty

Project Website
Audio-visual material 1

Viable implementation of the metadata repository incl. report on data access right management

Initial Definition of the CDM

Publikacje

Are the European reference networks for rare diseases ready to embrace machine learning? A mixed-methods study

Autorzy: Georgi Iskrov, Ralitsa Raycheva, Kostadin Kostadinov, Sandra Gillner, Carl Rudolf Blankart, Edith Sky Gross, Gulcin Gumus, Elena Mitova, Stefan Stefanov, Georgi Stefanov, Rumen Stefanov
Opublikowane w: Orphanet Journal of Rare Diseases, Numer 19, 2024, ISSN 1750-1172
Wydawca: BioMed Central
DOI: 10.1186/s13023-024-03047-7

We're implementing AI now, so why not ask us what to do?–How AI providers perceive and navigate the spread of diagnostic AI in complex healthcare systems

Autorzy: Sandra Gillner
Opublikowane w: Social Science & Medicine, 2023, ISSN 0277-9536
Wydawca: Pergamon Press Ltd.

The Modernisation of Newborn Screening as a Pan-European Challenge–An International Delphi Study

Autorzy: Sandra Gillner, Gulcin Gumus, Edith Gross, Georgi Iskrov, Ralitsa Raycheva, Georgi Stefanov, Rumen Stefanov, Anne-Sophie Chalandon, Alicia Granados, Julian Nam, Andreas Clemens, Carl Rudolf Blankart
Opublikowane w: Social Science & Medicine, 2024, ISSN 0168-8510
Wydawca: Elsevier BV

Effect of tissue fixation on the optical properties of structural components assessed by non-linear microscopy imaging

Autorzy: Markus, M. Andrea; Ferrari, Daniele P.; Alves, Frauke; Ramos-Gomes, Fernanda
Opublikowane w: Optica Publishing Group, Numer Vol. 14, Numer 8, 2023, Strona(/y) 3988-4002, ISSN 2156-7085
Wydawca: The Optical Society
DOI: 10.1364/boe.488453

Rare diseases' genetic newborn screening as the gateway to future genomic medicine: the Screen4Care EU-IMI project

Autorzy: Alessandra Ferlini, Edith Sky Gross, Nicolas Garnier, null null, Joanne Berghout, Aldona Zygmunt, Deependra Singh, Kui A. Huang, Waltraud Kantz, Carl Rudolf Blankart, Sandra Gillner, Jiawei Zhao, Richard Roettger, Christina Saier, Jan Kirschner, Joern Schenk, Leon Atkins, Nuala Ryan, Kaja Zarakowska, Jana Zschüntzsch, Michela Zuccolo, Matthias Müllenborn, Yuen-Sum Man, Liz Goodman, Marie Trad Ly
Opublikowane w: Orphanet Journal of Rare Diseases, Numer 18, 2023, ISSN 1750-1172
Wydawca: BioMed Central
DOI: 10.1186/s13023-023-02916-x

Challenges in mapping European rare disease databases, relevant for ML-based screening technologies in terms of organizational, FAIR and legal principles: scoping review

Autorzy: Ralitsa Raycheva, Kostadin Kostadinov, Elena Mitova, Nataliya Bogoeva, Georgi Iskrov, Georgi Stefanov, Rumen Stefanov
Opublikowane w: Frontiers in Public Health, 2023, Strona(/y) 11, ISSN 2296-2565
Wydawca: Frontiers in Public Health
DOI: 10.3389/fpubh.2023.1214766

Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial

Autorzy: Oliver Schwartz, Katharina Vill, Michelle Pfaffenlehner, Max Behrens, Claudia Weiß, Jessika Johannsen, Johannes Friese, Andreas Hahn, Andreas Ziegler, Sabine Illsinger, Martin Smitka, Arpad von Moers, Heike Kölbel, Gudrun Schreiber, Nadja Kaiser, Ekkehard Wilichowski, Marina Flotats-Bastardas, Ralf A Husain, Matthias Baumann, Cornelia Köhler, Regina Trollmann, Annette Schwe
Opublikowane w: JAMA Pediatrics, Numer 178(6):540-547, 2024, ISSN 2168-6203
Wydawca: American Medical Association

Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe

Autorzy: Nicolas Garnier, Joanne Berghout, Aldona Zygmunt, Deependra Singh, Kui A. Huang, Waltraud Kantz, Carl Rudolf Blankart, Sandra Gillner, Jiawei Zhao, Richard Roettger, Christina Saier, Jan Kirschner, Joern Schenk, Leon Atkins, Nuala Ryan, Kaja Zarakowska, Jana Zschüntzsch, Michela Zuccolo, Matthias Müllenborn, Yuen-Sum Man, Liz Goodman, Marie Trad, Anne Sophie Chalandon, Stefaan Sansen, Maria Mart
Opublikowane w: PLOS ONE, Numer 18, 2023, Strona(/y) e0293503, ISSN 1932-6203
Wydawca: Public Library of Science
DOI: 10.1371/journal.pone.0293503

Landscape analysis of available European data sources amenable for machine learning and recommendations on usability for rare diseases screening

Autorzy: Ralitsa Raycheva, Kostadin Kostadinov, Elena Mitova, Georgi Iskrov, Georgi Stefanov, Merja Vakevainen, Kaisa Elomaa, Yuen-Sum Man, Edith Gross, Jana Zschüntzsch, Richard Röttger, Rumen Stefanov
Opublikowane w: Orphanet Journal of Rare Diseases, Numer 147 (2024), 2024, ISSN 1750-1172
Wydawca: BioMed Central
DOI: 10.21203/rs.3.rs-3448625/v1

Non-invasive optoacoustic imaging of glycogen-storage and muscle degeneration in Late-onset Pompe disease

Autorzy: Ferdinand Knieling, Lina Tan, Jana Zschüntzsch, Stefanie Meyer, Alica Stobbe, Hannah Bruex, Adrian Regensburger, Frauke Alves, Jörg Jüngert, Ulrich Rother, Yi Li, Vera Danko, Werner Lang, Matthias Türk, Sandy Schmidt, Matthias Vorgerd, Lara Schlaffke, Joachim Wölfle, Andreas Hahn, Alexander Mensch, Martin Winterholler, Regina Trollmann, Rafael Heiß, Alexandra Wagner, Roman Raming
Opublikowane w: Nature Communications, Numer 15(1):7843, 2024, ISSN 2041-1723
Wydawca: Nature Publishing Group
DOI: 10.21203/rs.3.rs-3731485/v1

Patient preferences in genetic newborn screening for rare diseases: study protocol

Autorzy: Sylvia MARTIN ,1 Emanuele Angolini,2 Jennifer Audi,3 Enrico Bertini,2 Lucia Pia Bruno,4,5 Joshua Coulter,6 Alessandra Ferlini,7 Fernanda Fortunato,7 Vera Frankova,8 Nicolas Garnier,6 Åsa Grauman,1 Edith Gross,9 Brett Hauber,6 Mats Hansson,1 Janbernd Kirschner ,10 Ferdinand Knieling,11 Gergana Kyosovksa,12 Silvia Ottombrino,2 Antonio Novelli,2 Roman Raming,11 Stefaan Sansen,13 Christina Saier,14 J
Opublikowane w: BMJ Open, 2024, ISSN 2044-6055
Wydawca: BMJ Publishing Group

Genomic newborn screening: Are we entering a new era of screening?

Autorzy: Ute Spiekerkoetter, David Bick, Richard Scott, Henrietta Hopkins, Tanja Krones, Edith Sky Gross, James R. Bonham
Opublikowane w: Journal of Inherited Metabolic Disease, 2023, Strona(/y) 759-1003, ISSN 1573-2665
Wydawca: John Wiley & Sons Ltd
DOI: 10.1002/jimd.12650

Data-driven prioritization of genetic disorders for global genomic newborn screening programs

Autorzy: Minten T, Gold NB, Bick S, Adelson S, Gehlenborg N, Amendola LM, Boemer F, Coffey AJ, Encina N, Ferlini A, Kirschner J, Russell BE, Servais L, Sund KL, Taft RJ, Tsipouras P, Zouk H; ICoNS Gene List Contributors; Bick D, Green RC; International Consortium on Newborn Sequencing (ICoNS)
Opublikowane w: medRxiv [Preprint], Numer 2024 Sep 16:2024.03.24.24304797, 2024, ISSN 2692-8205
Wydawca: Cold Spring Harbor Laboratory

Improving Clinical Documentation of Rare Neuromuscular Diseases: Development of a Standardised Information Model

Autorzy: Hübner M, Nyoungui E, Gazzero E, Hassoun L, Zschüntzsch J, Krefting D, Schepers J, Röttgerd R.
Opublikowane w: Studies in Health Technology and Informatics, Numer 316:1418-1419, 2024, ISSN 0926-9630
Wydawca: IOS Press

Newborn Screening by Genomic Sequencing: Opportunities and Challenges

Autorzy: Avid Bick, Arzoo Ahmed, Dasha Deen, Alessandra Ferlini, Nicolas Garnier, Dalia Kasperaviciute, Mathilde Leblond, Amanda Pichini, Augusto Rendon, Aditi Satija, Alice Tuff-Lacey and Richard H. Scott
Opublikowane w: Int. J. Neonatal Screening, 2022
Wydawca: Int. J. Neonatal Screening
DOI: 10.3390/ijns8030040

Wyszukiwanie danych OpenAIRE...

Rezultaty

Publikacje

Udostępnij tę stronę

Pobierz