Meiner, Vardiella L.

Top Publications

Top Publications Authored or Co-Authored by "Meiner, Vardiella L."

• Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration

  Brain, Volume 131, No. 3, Year 2008, Citations 213
• A common lithuanian mutation causing familial hypercholesterolemia in Ashkenazi jews

  American Journal of Human Genetics, Volume 49, No. 2, Year 1991, Citations 98
• Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia

  Annals of Neurology, Volume 92, No. 2, Year 2022, Citations 65
• Recent origin and spread of a common lithuanian mutation, G197del LDLR, causing familial hypercholesterolemia: Positive selection is not always necessary to account for disease incidence among Ashkenazi Jews

  American Journal of Human Genetics, Volume 68, No. 5, Year 2001, Citations 50
• A nonsense mutation in the LDL receptor gene leads to familial hypercholesterolemia in the druze sect

  American Journal of Human Genetics, Volume 50, No. 2, Year 1992, Citations 33