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Ezrin deficiency triggers glial fibrillary acidic protein upregulation and a distinct reactive astrocyte phenotype

2022 . Schacke, Stephan | Kirkpatrick, Joanna | Stocksdale, Amy | Bauer, Reinhard | Hagel, Christian | Riecken, Lars Björn | Morrison, Helen

Genomic basis for skin phenotype and cold adaptation in the extinct Steller’s sea cow

Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3—a subgroup of K+ channelopathies

Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer

2021 . Wagener, Rabea | Taeubner, Julia | Walter, Carolin | Yasin, Layal | Alzoubi, Deya | Bartenhagen, Christoph | Attarbaschi, Andishe | Classen, Carl-Friedrich | Kontny, Udo | Hauer, Julia | Fischer, Ute | Dugas, Martin | Kuhlen, Michaela | Borkhardt, Arndt | Brozou, Triantafyllia

Whole-genome sequencing identifies functional noncoding variation in SEMA3C that cosegregates with dyslexia in a multigenerational family

2021 . Carrion-Castillo, Amaia | B. Estruch, Sara | Maassen, Ben | Franke, Barbara | Francks, Clyde | Fisher, Simon

No evidence for preferential X-chromosome inactivation as the main cause of divergent phenotypes in sisters with X-linked hypohidrotic ectodermal dysplasia

2021 . Körber, Laura | Schneider, Holm | Fleischer, Nicole | Maier-Wohlfart, Sigrun

SWI/SNF-deficient undifferentiated/rhabdoid carcinoma of the gallbladder carrying a POLE mutation in a 30-year-old woman: a case report

2021 . Gerber, Tiemo S. | Agaimy, Abbas | Hartmann, Arndt | Habekost, Michael | Roth, Wilfried | Stenzinger, Albrecht | Schirmacher, Peter | Straub, Beate K.

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

NMDAR1 autoantibodies amplify behavioral phenotypes of genetic white matter inflammation: a mild encephalitis model with neuropsychiatric relevance

The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype

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