Aligianis, Irene A.

Top Publications

Top Publications Authored or Co-Authored by "Aligianis, Irene A."

• 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
• Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

  Nature Genetics, Volume 37, No. 3, Year 2005, Citations 222
• Loss-of-function mutations in TBC1d20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans

  American Journal of Human Genetics, Volume 93, No. 6, Year 2013, Citations 119
• Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and Genotype-Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome

  Human Mutation, Volume 34, No. 5, Year 2013, Citations 116
• Loss of aldh18a1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3a and warburg micro syndrome

  Molecular Genetics and Genomic Medicine, Volume 2, No. 4, Year 2014, Citations 20