Luísa Coutinho-Santos

Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD

A. Fulton, D. Sharon, C. Rivolta, 2021, npj Genomic Medicine.

Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice

C. Rivolta, E. Tucker, V. Ramamurthy, 2019, PLoS genetics.

Early onset non-syndromic retinal degeneration due to variants in INPP5E: phenotypic expansion of the ciliary gene previously associated with Joubert syndrome

A. Fulton, D. Sharon, C. Rivolta, 2020, medRxiv.