Area of research
Genetics · Molecular Biology
Research interest
Research focused on Genetics and Sphingolipid, with related work in Prioritization, Leukodystrophy, Fibrosis. Notable publications include 'Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy', 'Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations', and 'IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease'.
An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser
COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis
Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations
IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease
Pathogenic alleles in microtubule, secretory granule and extracellular matrix-related genes in familial keratoconus
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7
Heterozygous loss of <i>WBP11</i> function causes multiple congenital defects in humans and mice
Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy