Publications
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. Hum Mutat 39, 152-166 (2018).
IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome. Hum Mol Genet 25, 4012-4020 (2016).
MED resulting from recessively inherited mutations in the gene encoding calcium-activated nucleotidase CANT1. Am J Med Genet A 173, 2415-2421 (2017).
Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome. Nat Commun 6, 7092 (2015).
Opsismodysplasia resulting from an insertion mutation in the SH2 domain, which destabilizes INPPL1. Am J Med Genet A 164A, 2407-11 (2014).
A second locus for Schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1). Am J Med Genet A 167A, 2470-3 (2015).
Somatic mosaicism for a lethal TRPV4 mutation results in non-lethal metatropic dysplasia. Am J Med Genet A 170, 3298-3302 (2016).