Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndromeLore Pottie, Bert Callewaert, Piyanoot Tapaneeyaphan et al.|The American Journal of Human Genetics|2021Cited by 33
Loss of zebrafish atp6v1e1b, encoding a subunit of vacuolar ATPase, recapitulates human ARCL type 2C syndrome and identifies multiple pathobiological signaturesLore Pottie, Bert Callewaert|PLoS Genetics|2021Cited by 10
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndromeLore Pottie, Bert Callewaert, Shazia Maqbool et al.|The American Journal of Human Genetics|2021Cited by 6
Loss of a subunit of vacuolar ATPase identifies unexpected biological signatures of reduced organelle acidification <i>in vivo</i>Lore Pottie, Bert Callewaert|bioRxiv (Cold Spring Harbor Laboratory)|2020Cited by 0