Publications

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Author Title [ Year(Asc)]
Filters: Author is Wortmann, Saskia B  [Clear All Filters]
2021
Klöckner, C. et al. De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy. Genet Med 23, 653-660 (2021).
2020
Lenz, D. et al. Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1. Genet Med 22, 1863-1873 (2020).
Zech, M. et al. Monogenic variants in dystonia: an exome-wide sequencing study. Lancet Neurol 19, 908-918 (2020).
2019
Paine, I. et al. Paralog Studies Augment Gene Discovery: DDX and DHX Genes. Am J Hum Genet 105, 302-316 (2019).