%0 Journal Article
%A Schüle-Freyer, Rebecca
%A Timmann, Dagmar
%A Erasmus, Corrie E
%A Reichbauer, Jennifer
%A Wayand, Melanie
%A van de Warrenburg, Bart
%A Schöls, Ludger
%A Wilke, Carlo
%A Bevot, Andrea
%A Zuchner, Stephan
%A Beltran, Sergi
%A Laurie, Steven
%A Matalonga, Leslie
%A Graessner, Holm
%A Synofzik, Matthis
%T Solving unsolved rare neurological diseases-a Solve-RD viewpoint.
%J European journal of human genetics
%V 29
%N 9
%@ 1476-5438
%C Basingstoke
%I Stockton Press
%M DZNE-2021-00744
%P 1332-1336
%D 2021
%X Rare genetic neurological disorders (RND; ORPHA:71859) are a heterogeneous group of disorders comprising >1700 distinct genetic disease entities. However, genetic discoveries have not yet translated into dramatic increases of diagnostic yield and indeed rates of molecular genetic diagnoses have been stuck at about 30–50
%K Datasets as Topic
%K Genetic Testing: methods
%K Genetic Testing: standards
%K Genomics: methods
%K Genomics: standards
%K Humans
%K Nervous System Diseases: genetics
%K Nervous System Diseases: pathology
%K Practice Guidelines as Topic
%K Rare Diseases: genetics
%K Rare Diseases: pathology
%K Exome Sequencing: methods
%K Exome Sequencing: standards
%F PUB:(DE-HGF)16
%9 Journal Article
%2 pmc:PMC8440537
%$ pmid:33972714
%R 10.1038/s41431-021-00901-1
%U https://pub.dzne.de/record/155566