Anna Dı́az-Font
Great Ormond Street Hospital(GB)University College London(GB)
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Genetic and Kidney Cyst Diseases, Glycosylation and Glycoproteins Research, Genetic Syndromes and Imprinting, Cellular transport and secretion
Most-Cited Works
- → Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome(2008)395 cited
- → A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies(2009)267 cited
- → Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome(2011)257 cited
- → Bardet–Biedl syndrome proteins control the cilia length through regulation of actin polymerization(2013)116 cited
- → COLEC10 is mutated in 3MC patients and regulates early craniofacial development(2017)76 cited
- → Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping(2009)71 cited
- → A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity(2005)48 cited
- → Perinatal lethal phenotype with generalized ichthyosis in a type 2 Gaucher disease patient with the [L444P;E326K]/P182L genotype: Effect of the E326K change in neonatal and classic forms of the disease(2005)36 cited
- → RNAi-mediated inhibition of the glucosylceramide synthase (GCS) gene: A preliminary study towards a therapeutic strategy for Gaucher disease and other glycosphingolipid storage diseases(2006)23 cited
- → Clinical and mutational characterization of three patients with multiple sulfatase deficiency: Report of a new splicing mutation(2005)19 cited