Juliane Winkelmann

The paper identifies contmeQTLs linking childhood adversity to epigenetic changes in immune cells, which are associated with disease risk and inflammatory profiles.

The paper uses fibroblast RNA-seq to improve molecular diagnosis in dystonia patients by identifying RNA expression and splicing defects missed by genomic sequencing.

This study uses optical genome mapping to identify de novo and rare inherited structural variants in 57 patient-parent trios, finding 13 de novo SVs and 11 rare inherited SVs, some of which are pathogenic or candidate disease-causing.

This study uses machine learning on UK Biobank data to predict sleep health traits from brain imaging, finding limited predictive power despite extensive model optimization.

The paper identifies a variant in DSP associated with QRS interval and shows that DSP-AS1 regulates DSP expression through functional and Mendelian randomization analyses.

This study identifies novel and known genetic contributors to hypertension using RNA-seq and eQTL analyses, highlighting potential drug targets and pathways.

This study identifies genetic variants influencing brain geometry using GWAS on Laplace-Beltrami spectrum eigenvalues from UK Biobank data.

This study shows that alpha-Synuclein co-pathology in Alzheimer's Disease increases tau levels, linking AD and Parkinson's Disease pathogenesis.

The paper identifies de novo protein-coding gene variants in stuttering and highlights genetic links to neurodevelopmental disorders.

The paper shows that MEIS2 and DLX5 activate enhancers for projection neurons, while LHX6 represses them in interneurons, and a MEIS2 mutation linked to intellectual disability impairs this process.

The paper reports a cohort of 35 individuals with CUL3 variants causing a syndromic neurodevelopmental disorder, showing loss-of-function variants disrupt protein homeostasis by impairing proteasomal degradation of CUL3 substrates.

This study identifies a synaptic mechanism linking collagen VI to motor control through cannabinoid receptor interaction and shows that CB1R agonists can improve motor performance in a dystonia mouse model.

The paper identifies cell type-specific epigenetic features in a conserved MEIS1 intronic region associated with insomnia and restless legs syndrome, showing their role in MEIS1 regulation.

The paper describes the clinical, neuroimaging, and molecular features of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability, providing variant interpretation guidelines and carrier frequency estimates.

The paper identifies 57 genomic regions associated with insomnia symptoms, linking them to phototransduction, ubiquitination, and potential causal relationships with coronary heart disease and depression.

This study identifies genetic risk loci for narcolepsy, showing enrichment in immune cells and suggesting autoimmune modulation via T cell receptor chains and influenza-A infection.