Basel-Vanagaite, Lina

Top Publications

Top Publications Authored or Co-Authored by "Basel-Vanagaite, Lina"

• Impaired glycosylation and cutis laxa caused by mutations in the vesicular H⁺-ATPase subunit ATP6V0A2

  Nature Genetics, Volume 40, No. 1, Year 2008, Citations 340
• 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
• Ethnically diverse causes of walker-warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the middle east

  Human Mutation, Volume 29, No. 11, Year 2008, Citations 69
• Deficiency for the ubiquitin ligase ube3b in a blepharophimosis-ptosis- intellectual-disability syndrome

  American Journal of Human Genetics, Volume 91, No. 6, Year 2012, Citations 36
• Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23

  American Journal of Human Genetics, Volume 100, No. 2, Year 2017, Citations 30