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A novel pathogenic CACNA1A variant causing episodic ataxia type 2 (EA2) spectrum phenotype in four family members and a novel combined therapy

2020 . Penkava, Josef | Ledderose, S. | Chahrokh-Zadeh, S. | Munzig, A. | Eulenburg, zu | Huppert, D. | Strupp, M. | Becker-Bense, S.

Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important

2020 . Eggermann, Thomas | Brück, Johanna | Knopp, Cordula | Fekete, György | Kratz, Christian | Tasic, Velibor | Kurth, Ingo | Elbracht, Miriam | Eggermann, Katja | Begemann, Matthias

Whole genome sequencing and phylogenetic classification of Tunisian SARS-CoV-2 strains from patients of the Military Hospital in Tunis

2020 . Handrick, Susann | Bestehorn-Willmann, Malena | Eckstein, Simone | Walter, Mathias C. | Antwerpen, Markus H. | Naija, Habiba | Stoecker, Kilian | Wölfel, Roman | Ben Moussa, Mohamed

First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery

Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis

Cultural variation impacts paternal and maternal genetic lineages of the Hmong-Mien and Sino-Tibetan groups from Thailand

2020 . Kutanan, Wibhu | Shoocongdej, Rasmi | Srikummool, Metawee | Hübner, Alexander | Suttipai, Thanatip | Srithawong, Suparat | Kampuansai, Jatupol | Stoneking, Mark

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