Michael T. Zimmermann

机构：Medical College of Wisconsin · ORCID：0000-0001-7073-0525

发表论文 214 篇 · 总被引 5648 次 · h-index 36

代表论文

Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy (2023 · The American Journal of Human Genetics · 被引 37)
MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway (2024 · The American Journal of Human Genetics · 被引 20)
An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser (2025 · Genome Medicine · 被引 14)
Cancer-associated polybromo-1 bromodomain 4 missense variants variably impact bromodomain ligand binding and cell growth suppression (2024 · Journal of Biological Chemistry · 被引 10)
RAG genomic variation causes autoimmune diseases through specific structure-based mechanisms of enzyme dysregulation (2023 · iScience · 被引 10)
Type I interferon signaling promotes radioresistance in head and neck cancer (2024 · Translational Cancer Research · 被引 8)