Cirak, Sebahattin

Top Publications

Top Publications Authored or Co-Authored by "Cirak, Sebahattin"

• Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

  Nature Communications, Volume 6, Article 8111, Year 2015, Citations 335
• A Homozygous Mutation in Human PRICKLE1 Causes an Autosomal-Recessive Progressive Myoclonus Epilepsy-Ataxia Syndrome

  American Journal of Human Genetics, Volume 83, No. 5, Year 2008, Citations 208
• Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan

  American Journal of Human Genetics, Volume 92, No. 3, Year 2013, Citations 170
• Rare variants in NR2F2 cause congenital heart defects in humans

  American Journal of Human Genetics, Volume 94, No. 4, Year 2014, Citations 147
• 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