Ladda, Roger L.

Top Publications

Top Publications Authored or Co-Authored by "Ladda, Roger L."

• Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria

  American Journal of Human Genetics, Volume 87, No. 3, Year 2010, Citations 121
• Inheritance of an RNA splicing mutation (G+I IVS20) in the type III procollagen gene (COL3AI) in a family having aortic aneurysms and easy bruisability: Phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV

  American Journal of Human Genetics, Volume 47, No. 1, Year 1990, Citations 89
• Redefining the Etiologic Landscape of Cerebellar Malformations

  American Journal of Human Genetics, Volume 105, No. 3, Year 2019, Citations 57
• PIGG variant pathogenicity assessment reveals characteristic features within 19 families

  Genetics in Medicine, Volume 23, No. 10, Year 2021, Citations 51
• Three Single Base Mutations in Type III Procollagen Gene That Prevent Correct RNA Splicing in Variants of Ehlers‐Danlos Syndrome IV

  Annals of the New York Academy of Sciences, Volume 580, No. 1, Year 1990, Citations 2