Boustred, Christopher R.

Top Publications

Top Publications Authored or Co-Authored by "Boustred, Christopher R."

• The UK10K project identifies rare variants in health and disease

  Nature, Volume 526, No. 7571, Year 2015, Citations 971
• Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

  Nature Communications, Volume 6, Article 8111, Year 2015, Citations 335
• X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

  Nature Communications, Volume 8, Article 14279, Year 2017, Citations 124
• A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans

  Nature Communications, Volume 5, Article 4871, Year 2014, Citations 100
• Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia

  Genetics in Medicine, Volume 25, No. 1, Year 2023, Citations 100