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

Autor: 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

Publikováno v: PLoS ONE, Vol 18, Iss 11, p e0293503 (2023)

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 pr

Externí odkaz: https://doaj.org/article/b1398ce8c27f41afbbe124544bb3d5b6

TiCoNE 2: A Composite Clustering Model for Robust Cluster Analyses on Noisy Data

Autor: Christian Wiwie, Richard Roettger, Jan Baumbach

Publikováno v: University of Southern Denmark
Wiwie, C, Röttger, R & Baumbach, J 2019, ' TiCoNE 2: A Composite Clustering Model for Robust Cluster Analyses on Noisy Data ', arxiv.org . < https://arxiv.org/pdf/1904.12353 >

Identifying groups of similar objects using clustering approaches is one of the most frequently employed first steps in exploratory biomedical data analysis. Many clustering methods have been developed that pursue different strategies to identify the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ce414eb4f97b7052637a30ee26bfaa8
http://arxiv.org/abs/1904.12353

DiMmeR: Discovery of Multiple Differentially Methylated Regions

Autor: Diogo Marinho Almeida, Ida Skov, Artur Silva, Fabio Vandin, Qihua Tan, Richard Roettger, Jan Baumbach

Publikováno v: Almeida, D M, Skov, I, Silva, A, Vandin, F, Tan, Q, Röttger, R & Baumbach, J 2016, ' DiMmeR: Discovery of Multiple Differentially Methylated Regions ', The German Conference on Bioinformatics, Berlin, Germany, 12/09/2016-15/09/2016 .
University of Southern Denmark

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::0926cc52f6067d855ce2d1f507e83da6
https://portal.findresearcher.sdu.dk/da/publications/90e983ed-c5ad-4344-824b-b9e69e52e112

Inexpensive Near-IR Sun Photometer for Measuring Total Column Water Vapor

Autor: Richard Roettger, Forrest M. Mims, David R. Brooks

Publikováno v: Journal of Atmospheric and Oceanic Technology. 24:1268-1276

An inexpensive two-channel near-IR sun photometer for measuring total atmospheric column water vapor (precipitable water) has been developed for use by the Global Learning and Observations to Benefit the Environment (GLOBE) environmental science and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0f9732b5e4109b51419cd4219d49d497
https://doi.org/10.1175/jtech2048.1

TRANSESOPHAGEAL ECHOCARDIOGRAPHY FOR DIAGNOSING AORTIC INJURY

Autor: Sharanda Jairam, Richard Roettger, Richard N. Messersmith, Luis G. Fernandez, Kristine Y. Lain, Scott H. Norwood, Robert T. Gordon, Manoj Shah

Publikováno v: The Journal of Trauma: Injury, Infection, and Critical Care. 36:877-880

Early diagnosis and rapid treatment of lethal aortic injuries associated with blunt trauma remain a challenge for trauma surgeons. The following case demonstrates the use of transesophageal echocardiography for definitive diagnosis of an aortic injur

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::59bba4377ee8b1265e6367b5831f4f46
https://doi.org/10.1097/00005373-199406000-00020