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Title:

Scoring Algorithm-Based Genomic Testing in Dystonia: A Prospective Validation Study.

Document type:
Article; Journal Article
Author(s):
Zech, Michael; Jech, Robert; Boesch, Sylvia; Škorvánek, Matej; Necpál, Ján; Švantnerová, Jana; Wagner, Matias; Sadr-Nabavi, Ariane; Distelmaier, Felix; Krenn, Martin; Serranová, Tereza; Rektorová, Irena; Havránková, Petra; Mosejová, Alexandra; Příhodová, Iva; Šarláková, Jana; Kulcsarová, Kristína; Ulmanová, Olga; Bechyně, Karel; Ostrozovičová, Miriam; Haň, Vladimír; Ventosa, Joaquim Ribeiro; Brunet, Theresa; Berutti, Riccardo; Shariati, Mohammad; Shoeibi, Ali; Schneider, Susanne A; Kuster, Alice...     »
Abstract:
BACKGROUND: Despite the established value of genomic testing strategies, practice guidelines for their use do not exist in many indications. OBJECTIVES: We sought to validate a recently introduced scoring algorithm for dystonia, predicting the diagnostic utility of whole-exome sequencing (WES) based on individual phenotypic aspects (age-at-onset, body distribution, presenting comorbidity). METHODS: We prospectively enrolled a set of 209 dystonia-affected families and obtained summary scores (0-5...     »
Journal title abbreviation:
Mov Disord
Year:
2021
Journal volume:
36
Journal issue:
8
Pages contribution:
1959-1964
Fulltext / DOI:
doi:10.1002/mds.28614
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/33949708
Print-ISSN:
0885-3185
TUM Institution:
617; Institut für Humangenetik; Klinik und Poliklinik für Kinder- und Jugendmedizin; Klinik und Poliklinik für Neurologie; Lehrstuhl für Neurogenetik (Prof. Winkelmann)
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