Robin Dawn Clark

Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders

The paper identifies biallelic FLVCR1 variants causing a range of neurodevelopmental and neurodegenerative disorders, linking them to choline and ethanolamine transport dysfunction.

Missense variants affecting the actin-binding domains of PLS3 cause X-linked congenital diaphragmatic hernia and body wall defects

The paper identifies missense variants in PLS3 causing X-linked congenital diaphragmatic hernia and body wall defects through genetic analysis and functional studies.

ANKLE2, a target of Zika virus, controls asymmetric cell division of neuroblasts and uncovers a novel microcephaly pathway

This study identifies ANKLE2 as a Zika virus target that regulates neuroblast asymmetric division, linking it to microcephaly and motor neuron disease through interactions with VRK1 and LLGL1.