Solving the unsolved rare diseases in Europe
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://www.nature.com/articles/s41431-021-00924-8.pdf
Reference6 articles.
1. Zurek B, Ellwanger K, Vissers L, Schüle R, Synofzik M, Töpf A, et al. Solve-RD: systematic Pan-European data sharing and collaborative analysis to solve rare diseases. Eur J Hum Genet. 2021. https://doi.org/10.1038/s41431-021-00859-0.
2. Matalonga L, Hernandez-Ferrer C, Piscia D, Solve-RD SNV-indel working group, Schüle R, Synofzik M, et al. Diagnosis of rare disease patients through programmatic reanalysis of genome-phenome data. Eur J Hum Genet. 2021. https://doi.org/10.1038/s41431-021-00852-7.
3. de Boer E, Ockeloen CW, Matalonga L, Horvath R, Solve-RD SNV-indel working group, Rodenburg RJ, et al. A pathogenic MT-TL1 variant identified by whole exome sequencing in an individual with unexplained intellectual disability, epilepsy and spastic tetraparesis. Eur J Hum Genet. 2021. https://doi.org/10.1038/s41431-021-00900-2.
4. Töpf A, Pyle A, Griffin H, Matalonga L, Schon K, Solve-RD SNV-indel working group, et al. Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1). Eur J Hum Genet. 2021. https://doi.org/10.1038/s41431-021-00851-8.
5. Te Paske I, Garcia-Pelaez J, Sommer AK, Matalonga L, Starzynska T, Jakubowska A, et al. A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report. Eur J Hum Genet. 2021. https://doi.org/10.1038/s41431-021-00853-6.
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