Hauke S. Busch

This study identifies a CAG repeat expansion in EP400 as a novel cause of spinocerebellar ataxia in Serbian patients, with an inverse correlation between repeat number and age at onset.

This study identifies ceramide-driven lipotoxicity as a driver of calcific aortic valve disease and shows that SPT inhibition can reverse disease progression in vivo.

The paper demonstrates that ovarian cancer organoids derived from mesonephric-like adenocarcinoma can be used for functional precision medicine, showing sensitivity to binimetinib and resistance to standard chemotherapeutics.

The paper investigates how PD-L1 genomic gains in EBV-positive DLBCL alter spatial tumour-immune interactions, revealing immune evasion through fibroblast exclusion, metabolic suppression, and T-cell exhaustion.

This study uses UK Biobank data to analyze genetic overlap and comorbidity in autoimmune diseases through polygenic risk scores and pathway analysis.

This study compares long-read sequencing and optical genome mapping in detecting structural variants in Parkinson's disease, finding OGM better detects large variants while ONT provides high-resolution refinement.

This study uses exome sequencing to identify genetic variants in dystonia patients, finding 137 likely pathogenic variants in 51 genes and expanding the known phenotypic spectrum of dystonia-related genes.

The paper shows that in pemphigus, cell detachment, not autoantibody binding, causes long-term transcriptomic and proteomic changes associated with blister formation.

The paper uses scRNA-seq to identify aberrant differentiation in nasal epithelium of PCS patients, linking immune cell presence and inflammatory signaling to persistent symptoms.

The paper characterizes mitochondrial genetic variation in North and East Africa, identifying novel haplogroups and phylogenetic deviations.

This study shows that importin α7 deficiency in male mice causes infertility by disrupting spermatogenesis through impaired Sertoli cell function and defects in spermiogenesis.

The paper introduces MouseFM, a tool for in silico fine-mapping of genetic variants and genes using inbred mouse strain data, and demonstrates its application to identify candidate variants for specific phenotypes.

Qtlizer annotates GWAS variants with gene expression and protein abundance QTLs, revealing limitations of current cis-distance thresholds and enriching for housekeeping genes.

The paper evaluates Neanderthal genetic contributions to COVID-19 risk factors, showing deviations in Neanderthal sequences and population-specific differences affecting risk prediction in non-Europeans.

The paper presents the first de novo assembled Egyptian genome and population-based genetic variation data, highlighting differences in allele frequencies and linkage disequilibrium between Egyptians and Europeans.

The paper shows that structural variations at Xp21.2 disrupt a TAD boundary, leading to gonadal dysgenesis through altered gene regulation.

This study shows that a mutation in mt-Nd2, a mitochondrial complex I gene, reduces lifespan and increases glucose intolerance in mice by affecting tryptophan levels and aging pathways.

The paper develops a generative model to track cell organization changes during PC12 differentiation using static images and shape analysis.

This study shows that high mitochondrial heteroplasmy in mice reduces lifespan and impairs glucose metabolism.