Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature (“FILS syndrome”)

Decreased osteoclastogenesis in serotonin-deficient mice

(2012) Y. Chabbi-Achengli et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Studies on Human DNA Polymerase ϵ and GINS Complex and Their Role in DNA Replication

(2011) Vladimir P. Bermudez et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome

(2011) Carine Le Goff et al.   NATURE GENETICS

Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells

(2009) Marjorie Côte et al.   JOURNAL OF CLINICAL INVESTIGATION

DNA polymerase   and   proofreading suppress discrete mutator and cancer phenotypes in mice

(2009) T. M. Albertson et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

DNA polymerases and human disease

(2008) Lawrence A. Loeb et al.   NATURE REVIEWS GENETICS