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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.

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

Need for psychiatric phenotyping in patients with rare genetic disorders

2021 . Degenhardt, Franziska | Gradl-Dietsch, Gertraud | Hebebrand, Johannes

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

Genetically Determined Chronic Low-Grade Inflammation and Hundreds of Health Outcomes in the UK Biobank and the FinnGen Population: A Phenome-Wide Mendelian Randomization Study

2021 . Si, Shucheng | Li, Jiqing | Tewara, Marlvin Anemey | Xue, Fuzhong

DGK and DZHK position paper on genome editing: basic science applications and future perspective

2021 . Brandes, Ralf | Dueck, Anne | Engelhardt, Stefan | Kaulich, Manuel | Kupatt, Christian | De Angelis, Maria Teresa | Leisegang, Matthias S. | le Noble, Ferdinand | Moretti, Alessandra | Müller, Oliver J. | Skryabin, Boris V. | Thum, Thomas | Wurst, Wolfgang

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

Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

A rare cause of sudden unexpected death syndrome (SUDS) in the first year of life: endomyocardial fibroelastosis (EFE) due to two compound heterozygous MYBPC3 mutations

2021 . Hartung, Benno | Tank, Anne | Dittmann, Sven | Ritz-Timme, Stefanie | Schulze-Bahr, Eric

Polygenic risk for coronary artery disease in the Scottish and English population

2021 . Yang, Chuhua | Starnecker, Fabian | Pang, Shichao | Chen, Zhifen | Güldener, Ulrich | Li, Ling | Heinig, Matthias | Schunkert, Heribert

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