Publications
Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice. Hum Mol Genet 29, 3662-3678 (2020).
Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis. Am J Hum Genet 107, 293-310 (2020).