Bicknell, Louise S.

Top Publications

Top Publications Authored or Co-Authored by "Bicknell, Louise S."

• Mutations in the pre-replication complex cause Meier-Gorlin syndrome

  Nature Genetics, Volume 43, No. 4, Year 2011, Citations 249
• CEP152 is a genome maintenance protein disrupted in Seckel syndrome

  Nature Genetics, Volume 43, No. 1, Year 2011, Citations 233
• Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

  European Journal of Human Genetics, Volume 20, No. 6, Year 2012, Citations 102
• Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis

  American Journal of Human Genetics, Volume 99, No. 1, Year 2016, Citations 93
• Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg anophthalmia) syndrome in humans and mice

  PLoS Genetics, Volume 7, No. 7, Article e1002114, Year 2011, Citations 83