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GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses

Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum

2021 . Buelow, Markus | Süßmuth, David | Smith, Laurie D. | Aryani, Omid | CASTIGLIONI, CLAUDIA | Stenzel, Werner | Bertini, Enrico | Schuelke, Markus | Knierim, Ellen

Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability

Bi-allelic loss of function variants in SLC30A5 as cause of perinatal lethal cardiomyopathy

2021 . Lieberwirth, Johann Kaspar | Joset, Pascal | Heinze, Anja | Hentschel, Julia | Stein, Anja | Iannaccone, Antonella | Steindl, Katharina | Kuechler, Alma | Abou Jamra, Rami

A novel missense variant in the EML1 gene associated with bilateral ribbon-like subcortical heterotopia leads to ciliary defects

2021 . Markus, Fenja | Kannengießer, Annika | Näder, Patricia | Atigbire, Paul | Scholten, Alexander | Vössing, Christine | Bültmann, Eva | Korenke, G. Christoph | Owczarek-Lipska, Marta | Neidhardt, John

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

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