Vincent, John B.

Top Publications

Top Publications Authored or Co-Authored by "Vincent, John B."

• Novel insights into the genetics of smoking behaviour, lung function, and chronic obstructive pulmonary disease (UK BiLEVE): A genetic association study in UK Biobank

  The Lancet Respiratory Medicine, Volume 3, No. 10, Year 2015, Citations 343
• CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290

  American Journal of Human Genetics, Volume 83, No. 5, Year 2008, Citations 226
• A reference panel of 64,976 haplotypes for genotype imputation

  Nature Genetics, Volume 48, No. 10, Year 2016, Citations 100
• Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features

  American Journal of Human Genetics, Volume 99, No. 4, Year 2016, Citations 68
• Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein formin 2, cause nonsyndromic autosomal-recessive intellectual disability

  American Journal of Human Genetics, Volume 95, No. 6, Year 2014, Citations 58