Diana Rajan

1. Distinct Effects of Allelic NFIX Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome
   2010/07/31 by Valérie Malan, Diana Rajan, Sophie Thomas +21 · 27 citations
   Biochemistry, Genetics and Molecular Biology · #Genetic Syndromes and Imprinting #RNA Research and Splicing #RNA modifications and cancer
2. Not all SCN1A epileptic encephalopathies are Dravet syndrome
   2017/08/09 by Lynette G. Sadleir, Emily I. Mountier, Emily Mountier +354 · 3 citations
   Medicine · Biochemistry, Genetics and Molecular Biology · #Epilepsy research and treatment #Genomics and Rare Diseases #Genetics and Neurodevelopmental Disorders
3. Whole-genome sequencing of 490,640 UK Biobank participants
   2025/08/06 by Manuscript Writing Group, Keren Carss, Bjarni V. Halldórsson +97 · 1 voice · 7 citations
   Biochemistry, Genetics and Molecular Biology · #Genomics and Rare Diseases #Genetic Associations and Epidemiology #Cancer Genomics and Diagnostics