Sue Povey

发表论文 196 篇 · 总被引 12798 次 · h-index 49

代表论文

• Tuberous Sclerosis Complex Diagnostic Criteria Update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference (2013 · Pediatric Neurology · 被引 1524)
• Tuberous Sclerosis Complex Surveillance and Management: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference (2013 · Pediatric Neurology · 被引 867)
• Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel (2015 · Nature Communications · 被引 387)
• Renaming the DSCR1 / Adapt78 gene family as RCAN : regulators of calcineurin (2007 · The FASEB Journal · 被引 168)
• Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations (2013 · Nephron Physiology · 被引 106)
• Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure (2018 · Journal of the American Society of Nephrology · 被引 99)