Sheffield Children's Hospital

Top Publications

Top Publications Authored or Co-Authored in "Sheffield Children's Hospital"

• Enzyme-replacement therapy in life-threatening hypophosphatasia

  New England Journal of Medicine, Volume 366, No. 10, Year 2012, Citations 443
• Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

  PLoS Genetics, Volume 9, No. 3, Article e1003212, Year 2013, Citations 405
• Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

  Nature Genetics, Volume 48, No. 9, Year 2016, Citations 329
• Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

  Nature Genetics, Volume 49, No. 5, Year 2017, Citations 251
• Evaluation of polygenic risk scores for breast and ovarian cancer risk prediction in BRCA1 and BRCA2 mutation carriers

  Journal of the National Cancer Institute, Volume 109, No. 7, Year 2017, Citations 232