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

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

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Since 72% of rare diseases are genetic in origin and mostly paediatrics, genetic newborn screening represents a diagnostic "window of opportunity". Therefore, many gNBS initiatives started in different European countries. Screen4Care is a research project, which resulted of a joint effort...

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Main Authors: 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 Martinez-Fresno, Shirlene Badger, Rudolf Walther van Olden, Robert Rothmann, Patrick Lehner, Christof Tschohl, Ludovic Baillon, Gulcin Gumus, Edith Gross, Rumen Stefanov, Georgi Iskrov, Ralitsa Raycheva, Kostadin Kostadinov, Elena Mitova, Moshe Einhorn, Yaron Einhorn, Josef Schepers, Miriam Hübner, Frauke Alves, Rowan Iskandar, Rudolf Mayer, Alessandra Renieri, Aneta Piperkova, Ivo Gut, Sergi Beltran, Mads Emil Matthiesen, Marion Poetz, Mats Hansson, Regina Trollmann, Emanuele Agolini, Silvia Ottombrino, Antonio Novelli, Enrico Bertini, Rita Selvatici, Marianna Farnè, Fernanda Fortunato, Alessandra Ferlini
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2023-01-01
Series:PLoS ONE
Online Access:https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0293503&type=printable

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