John Walter

Novel mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy

Robert W. Taylor, D. Turnbull, G. Hudson, 2008, Neuromuscular Disorders.

Multiple F-Box Proteins Collectively Regulate Cell Development and Pathogenesis in the Human Pathogen Cryptococcus neoformans

C. Xue, Yina Wang, Chengjun Cao, 2022, Journal of fungi.

A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.

D. Misceo, S. Ferdinandusse, H. Waterham, 2015, Human molecular genetics.

An unusual phenotype of X‐linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene

H. Waterham, R. Caswell, C. Tysoe, 2014, American journal of medical genetics. Part A.