McEntagart, Meriel E.

Top Publications

Top Publications Authored or Co-Authored by "McEntagart, Meriel E."

• 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
• Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies

  Brain, Volume 133, No. 6, Year 2010, Citations 103
• Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia

  Genetics in Medicine, Volume 25, No. 1, Year 2023, Citations 100
• Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

  Nature Communications, Volume 14, No. 1, Article 4109, Year 2023, Citations 100
• Whole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical features

  Nature Genetics, Volume 54, No. 11, Year 2022, Citations 100