Kelly, Deirdre Anne K.

Top Publications

Top Publications Authored or Co-Authored by "Kelly, Deirdre Anne K."

• The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat

  Nature Genetics, Volume 38, No. 2, Year 2006, Citations 286
• Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study

  Hepatology, Volume 77, No. 2, Year 2023, Citations 93
• Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency

  JHEP Reports, Volume 5, No. 2, Article 100626, Year 2023, Citations 72
• Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency

  Hepatology, Volume 74, No. 2, Year 2021, Citations 71
• Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene

  European Journal of Human Genetics, Volume 22, No. 2, Year 2014, Citations 65