Dennis W. Bartholomew

Dennis W. Bartholomew's research focuses on rare genetic conditions caused by mutations in specific genes, including Noonan syndrome and Costello syndrome, which are developmental disorders linked to the RAS-MAPK cell signaling pathway. His work examines how particular gene mutations (such as in NF1 and HRAS) relate to physical and clinical features seen in affected patients, an approach known as genotype-phenotype correlation. This research is relevant to students interested in medical genetics, rare disease diagnosis, and how DNA changes translate into observable traits.

Publication output has been low and irregular over the last decade, with occasional single-year bursts (e.g., 2020, 2024) separated by multi-year gaps.

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