Publications
A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis. Am J Med Genet A 176, 1015-1022 (2018).
Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS). J Med Genet 58, 41-47 (2021).
Perturbations of BMP/TGF-β and VEGF/VEGFR signalling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM). J Med Genet 55, 675-684 (2018).
Predicting human genes susceptible to genomic instability associated with /-mediated rearrangements. Genome Res 28, 1228-1242 (2018).
TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease. Hum Mutat 41, 182-195 (2020).