TY  - JOUR
AU  - Schüle-Freyer, Rebecca
AU  - Timmann, Dagmar
AU  - Erasmus, Corrie E
AU  - Reichbauer, Jennifer
AU  - Wayand, Melanie
AU  - van de Warrenburg, Bart
AU  - Schöls, Ludger
AU  - Wilke, Carlo
AU  - Bevot, Andrea
AU  - Zuchner, Stephan
AU  - Beltran, Sergi
AU  - Laurie, Steven
AU  - Matalonga, Leslie
AU  - Graessner, Holm
AU  - Synofzik, Matthis
TI  - Solving unsolved rare neurological diseases-a Solve-RD viewpoint.
JO  - European journal of human genetics
VL  - 29
IS  - 9
SN  - 1476-5438
CY  - Basingstoke
PB  - Stockton Press
M1  - DZNE-2021-00744
SP  - 1332-1336
PY  - 2021
AB  - 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
KW  - Datasets as Topic
KW  - Genetic Testing: methods
KW  - Genetic Testing: standards
KW  - Genomics: methods
KW  - Genomics: standards
KW  - Humans
KW  - Nervous System Diseases: genetics
KW  - Nervous System Diseases: pathology
KW  - Practice Guidelines as Topic
KW  - Rare Diseases: genetics
KW  - Rare Diseases: pathology
KW  - Exome Sequencing: methods
KW  - Exome Sequencing: standards
LB  - PUB:(DE-HGF)16
C2  - pmc:PMC8440537
C6  - pmid:33972714
DO  - DOI:10.1038/s41431-021-00901-1
UR  - https://pub.dzne.de/record/155566
ER  -