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

Resultado final

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

Publicaciones

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

Autores: Georgi Iskrov, Ralitsa Raycheva, Kostadin Kostadinov, Sandra Gillner, Carl Rudolf Blankart, Edith Sky Gross, Gulcin Gumus, Elena Mitova, Stefan Stefanov, Georgi Stefanov, Rumen Stefanov
Publicado en: Orphanet Journal of Rare Diseases, Edición 19, 2024, ISSN 1750-1172
Editor: 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

Autores: Sandra Gillner
Publicado en: Social Science & Medicine, 2023, ISSN 0277-9536
Editor: Pergamon Press Ltd.

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

Autores: 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
Publicado en: Social Science & Medicine, 2024, ISSN 0168-8510
Editor: Elsevier BV

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

Autores: Markus, M. Andrea; Ferrari, Daniele P.; Alves, Frauke; Ramos-Gomes, Fernanda
Publicado en: Optica Publishing Group, Edición Vol. 14, Edición 8, 2023, Página(s) 3988-4002, ISSN 2156-7085
Editor: 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

Autores: 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
Publicado en: Orphanet Journal of Rare Diseases, Edición 18, 2023, ISSN 1750-1172
Editor: 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

Autores: Ralitsa Raycheva, Kostadin Kostadinov, Elena Mitova, Nataliya Bogoeva, Georgi Iskrov, Georgi Stefanov, Rumen Stefanov
Publicado en: Frontiers in Public Health, 2023, Página(s) 11, ISSN 2296-2565
Editor: Frontiers in Public Health
DOI: 10.3389/fpubh.2023.1214766

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

Autores: 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
Publicado en: JAMA Pediatrics, Edición 178(6):540-547, 2024, ISSN 2168-6203
Editor: 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

Autores: 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
Publicado en: PLOS ONE, Edición 18, 2023, Página(s) e0293503, ISSN 1932-6203
Editor: 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

Autores: 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
Publicado en: Orphanet Journal of Rare Diseases, Edición 147 (2024), 2024, ISSN 1750-1172
Editor: 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

Autores: 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
Publicado en: Nature Communications, Edición 15(1):7843, 2024, ISSN 2041-1723
Editor: Nature Publishing Group
DOI: 10.21203/rs.3.rs-3731485/v1

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

Autores: 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
Publicado en: BMJ Open, 2024, ISSN 2044-6055
Editor: BMJ Publishing Group

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

Autores: Ute Spiekerkoetter, David Bick, Richard Scott, Henrietta Hopkins, Tanja Krones, Edith Sky Gross, James R. Bonham
Publicado en: Journal of Inherited Metabolic Disease, 2023, Página(s) 759-1003, ISSN 1573-2665
Editor: John Wiley & Sons Ltd
DOI: 10.1002/jimd.12650

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

Autores: 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)
Publicado en: medRxiv [Preprint], Edición 2024 Sep 16:2024.03.24.24304797, 2024, ISSN 2692-8205
Editor: Cold Spring Harbor Laboratory

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

Autores: Hübner M, Nyoungui E, Gazzero E, Hassoun L, Zschüntzsch J, Krefting D, Schepers J, Röttgerd R.
Publicado en: Studies in Health Technology and Informatics, Edición 316:1418-1419, 2024, ISSN 0926-9630
Editor: IOS Press

Newborn Screening by Genomic Sequencing: Opportunities and Challenges

Autores: 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
Publicado en: Int. J. Neonatal Screening, 2022
Editor: Int. J. Neonatal Screening
DOI: 10.3390/ijns8030040

Resultado final

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