Publications
Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations. Hum Genet 137, 921-939 (2018).
ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes. Hum Mutat 39, 255-265 (2018).