Gregory Dziaduch

Compound heterozygous splicing variants expand the genotypic spectrum of EMC1‐related disorders

L. Waddell, G. O'grady, F. Evesson, 2023, Clinical genetics.

Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders

C. Zaidman, L. Waddell, L. Adès, 2023, Human molecular genetics.