Browsing Department of Clinical Medicine by Journals "Genome Medicine"
Now showing items 1-2 of 2
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Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders
(Journal article; Peer reviewed, 2021)Background: We aimed to define the clinical and variant spectrum and to provide novel molecular insights into the DHX30-associated neurodevelopmental disorder. Methods: Clinical and genetic data from affected individuals ... -
Not every estimate counts – evaluation of cell composition estimation approaches in brain bulk tissue data
(Journal article; Peer reviewed, 2023-06-07)Background: Variation in cell composition can dramatically impact analyses in bulk tissue samples. A commonly employed approach to mitigate this issue is to adjust statistical models using estimates of cell abundance derived ...