Bethan E. Hoskins

机构：Great Ormond Street Hospital for Children NHS Foundation Trust

发表论文 33 篇 · 总被引 4641 次 · h-index 21

代表论文

• Basal body dysfunction is a likely cause of pleiotropic Bardet–Biedl syndrome (2003 · Nature · 被引 704)
• Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder (2001 · Science · 被引 668)
• Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible (2006 · Nature Genetics · 被引 568)
• The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression (2004 · Nature Genetics · 被引 406)
• Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse (2004 · Nature Genetics · 被引 368)
• Genetic Interaction of BBS1 Mutations with Alleles at Other BBS Loci Can Result in Non-Mendelian Bardet-Biedl Syndrome (2003 · The American Journal of Human Genetics · 被引 267)