Veronica van Heyningen

机构：Institute of Genetics and Cancer, University College London, University of Edinburgh · ORCID：0000-0003-0359-0141

发表论文 331 篇 · 总被引 23889 次 · h-index 78

代表论文

• Disruption of Autoregulatory Feedback by a Mutation in a Remote, Ultraconserved PAX6 Enhancer Causes Aniridia (2013 · The American Journal of Human Genetics · 被引 209)
• SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome (2017 · Nature Genetics · 被引 164)
• Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa (2016 · The American Journal of Human Genetics · 被引 132)
• Heterozygous Loss-of-Function Mutations in YAP1 Cause Both Isolated and Syndromic Optic Fissure Closure Defects (2014 · The American Journal of Human Genetics · 被引 116)
• Identification of Novel Craniofacial Regulatory Domains Located far Upstream ofSOX9and Disrupted in Pierre Robin Sequence (2014 · Human Mutation · 被引 115)
• A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect (2016 · The American Journal of Human Genetics · 被引 104)