Sheffield Children's Nhs Foundation Trust

Top Publications

Top Publications Authored or Co-Authored in "Sheffield Children's Nhs Foundation Trust"

• The UK10K project identifies rare variants in health and disease

  Nature, Volume 526, No. 7571, Year 2015, Citations 971
• Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

  Genetics in Medicine, Volume 13, No. 3, Year 2011, Citations 303
• Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

  Nature Genetics, Volume 44, No. 3, Year 2012, Citations 246
• The worldwide antibiotic resistance and prescribing in european children (ARPEC) point prevalence survey: Developing hospital-quality indicators of antibiotic prescribing for children

  Journal of Antimicrobial Chemotherapy, Volume 71, No. 4, Year 2016, Citations 236
• Enhanced interpretation of newborn screening results without analyte cutoff values

  Genetics in Medicine, Volume 14, No. 7, Year 2012, Citations 115