Full Text Journal Articles by
Author Olaf Riess

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The Interdisciplinary Diagnosis of Rare Diseases-Results of the Translate-NAMSE Project.

Franziska Rillig, Annette Grüters, Tobias Bäumer, Georg F Hoffmann, Daniela Choukair, Reinhard Berner, Min Ae Lee-Kirsch, Martin Mücke, Corinna Grasemann, Annekatrin Ripke, Lena Zeltner, Gabriele Müller, Monika Glauch, Holm Graessner, Fabian Hauck, Christoph Klein, Markus M Nöthen, Olaf Riess, Stefan Mundlos, Thomas Meitinger, Tobias Kurt, Kerstin L Wainwright, Jochen Schmitt, Christoph Schramm, Heiko Krude,

<h4>Background</h4>Patients with rare diseases often undergo a diagnostic odyssey that can last many years until the diagnosis is definitively established. To improve the diagnosis and treatment of these patients, the German National Task Force for Patients With Rare Diseases (Nationales Aktionsbündnis für Menschen mit Seltenen Erkrankungen, NAMSE) has recommended the ... Read more >>

Dtsch Arztebl Int (Deutsches Arzteblatt international)
[2022, (Forthcoming):arztebl.m2022.0219]

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The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.

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 Béroud, Virginie Bros-Facer, Orion J Buske, Andrés Cañada-Pallarés, José M Fernández, Mats G Hansson, Rita Horvath, Julius O B Jacobsen, Rajaram Kaliyaperumal, Séverine Lair-Préterre, Luana Licata, Pedro Lopes, Estrella López-Martín, Deborah Mascalzoni, Lucia Monaco, Luis A Pérez-Jurado, Manuel Posada de la Paz, Jordi Rambla, Ana Rath, Olaf Riess, Peter N Robinson, David Salgado, Damian Smedley, Dylan Spalding, Peter A C 't Hoen, Ana Töpf, Irina Zaharieva, Holm Graessner, Ivo G Gut, Hanns Lochmüller, Sergi Beltran,

Rare disease patients are more likely to receive a rapid molecular diagnosis nowadays thanks to the wide adoption of next-generation sequencing. However, many cases remain undiagnosed even after exome or genome analysis, because the methods used missed the molecular cause in a known gene, or a novel causative gene could ... Read more >>

Hum Mutat (Human mutation)
[2022, 43(6):717-733]

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